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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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August 2016; 2 (4)

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A

  1. Ahmed, Syeda

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)
  2. Alfredsson, Lars

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Aljaafari, Danah

    1. Open Access
      Progressive myoclonus epilepsy associated with SACS gene mutations
      Fábio A. Nascimento, Laura Canafoglia, Danah Aljaafari, Mikko Muona, Anna-Elina Lehesjoki, Samuel F. Berkovic, Silvana Franceschetti, Danielle M. Andrade
      • Full Text
      • Full Text (PDF)
  4. Almqvist, Håkan

    1. Open Access
      Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene
      Martin Paucar, Håkan Almqvist, Ahmed Saeed, Gösta Bergendal, Jan Ygge, Staffan Holmin, Ingemar Björkhem, Per Svenningsson
      • Full Text
      • Full Text (PDF)
  5. Anderson, Christopher D.

    1. Open Access
      APOE polymorphisms influence longitudinal lipid trends preceding intracerebral hemorrhage
      Chia-Ling Phuah, Miriam R. Raffeld, Alison M. Ayres, M. Edip Gurol, Anand Viswanathan, Steven M. Greenberg, Alessandro Biffi, Jonathan Rosand, Christopher D. Anderson
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Andrade, Danielle M.

    1. Open Access
      Progressive myoclonus epilepsy associated with SACS gene mutations
      Fábio A. Nascimento, Laura Canafoglia, Danah Aljaafari, Mikko Muona, Anna-Elina Lehesjoki, Samuel F. Berkovic, Silvana Franceschetti, Danielle M. Andrade
      • Full Text
      • Full Text (PDF)
  7. Ayres, Alison M.

    1. Open Access
      APOE polymorphisms influence longitudinal lipid trends preceding intracerebral hemorrhage
      Chia-Ling Phuah, Miriam R. Raffeld, Alison M. Ayres, M. Edip Gurol, Anand Viswanathan, Steven M. Greenberg, Alessandro Biffi, Jonathan Rosand, Christopher D. Anderson
      • Abstract
      • Full Text
      • Full Text (PDF)

B

  1. Barcellos, Lisa F.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Bennett, David A.

    1. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Bergendal, Gösta

    1. Open Access
      Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene
      Martin Paucar, Håkan Almqvist, Ahmed Saeed, Gösta Bergendal, Jan Ygge, Staffan Holmin, Ingemar Björkhem, Per Svenningsson
      • Full Text
      • Full Text (PDF)
  4. Berkovic, Samuel F.

    1. Open Access
      Progressive myoclonus epilepsy associated with SACS gene mutations
      Fábio A. Nascimento, Laura Canafoglia, Danah Aljaafari, Mikko Muona, Anna-Elina Lehesjoki, Samuel F. Berkovic, Silvana Franceschetti, Danielle M. Andrade
      • Full Text
      • Full Text (PDF)
  5. Bermingham, Niamh

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)
  6. Bernstein, Allan

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  7. Bettinson, Karen

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  8. Bharucha-Goebel, Diana X.

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  9. Biffi, Alessandro

    1. Open Access
      APOE polymorphisms influence longitudinal lipid trends preceding intracerebral hemorrhage
      Chia-Ling Phuah, Miriam R. Raffeld, Alison M. Ayres, M. Edip Gurol, Anand Viswanathan, Steven M. Greenberg, Alessandro Biffi, Jonathan Rosand, Christopher D. Anderson
      • Abstract
      • Full Text
      • Full Text (PDF)
  10. Björkhem, Ingemar

    1. Open Access
      Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene
      Martin Paucar, Håkan Almqvist, Ahmed Saeed, Gösta Bergendal, Jan Ygge, Staffan Holmin, Ingemar Björkhem, Per Svenningsson
      • Full Text
      • Full Text (PDF)
  11. Bladen, Catherine L.

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  12. Blakely, Emma L.

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)
  13. Blamire, Andrew M.

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  14. Boeve, Bradley F.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  15. Boneschi, Filippo Martinelli

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  16. Bos, Steffan D.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  17. Bove, Riley

    1. Open Access
      Complex relation of HLA-DRB1*1501, age at menarche, and age at multiple sclerosis onset
      Riley Bove, Alicia S. Chua, Zongqi Xia, Lori Chibnik, Philip L. De Jager, Tanuja Chitnis
      • Abstract
      • Full Text
      • Full Text (PDF)
  18. Bradshaw, Elizabeth M.

    1. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)
  19. Bravver, Elena

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  20. Briggs, Farren B.S.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  21. Bushby, Kate

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)

C

  1. Caillier, Stacy J.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Canafoglia, Laura

    1. Open Access
      Progressive myoclonus epilepsy associated with SACS gene mutations
      Fábio A. Nascimento, Laura Canafoglia, Danah Aljaafari, Mikko Muona, Anna-Elina Lehesjoki, Samuel F. Berkovic, Silvana Franceschetti, Danielle M. Andrade
      • Full Text
      • Full Text (PDF)
  3. Carlier, Pierre G.

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Celius, Elisabeth G.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Chan, Gail

    1. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Chibnik, Lori

    1. Open Access
      Complex relation of HLA-DRB1*1501, age at menarche, and age at multiple sclerosis onset
      Riley Bove, Alicia S. Chua, Zongqi Xia, Lori Chibnik, Philip L. De Jager, Tanuja Chitnis
      • Abstract
      • Full Text
      • Full Text (PDF)
  7. Chibnik, Lori B.

    1. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)
  8. Chitnis, Tanuja

    1. Open Access
      Complex relation of HLA-DRB1*1501, age at menarche, and age at multiple sclerosis onset
      Riley Bove, Alicia S. Chua, Zongqi Xia, Lori Chibnik, Philip L. De Jager, Tanuja Chitnis
      • Abstract
      • Full Text
      • Full Text (PDF)
  9. Chua, Alicia S.

    1. Open Access
      Complex relation of HLA-DRB1*1501, age at menarche, and age at multiple sclerosis onset
      Riley Bove, Alicia S. Chua, Zongqi Xia, Lori Chibnik, Philip L. De Jager, Tanuja Chitnis
      • Abstract
      • Full Text
      • Full Text (PDF)
  10. Cimpean, Maria

    1. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)
  11. Cnaan, Avital

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  12. Cree, Bruce A.C.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  13. Cuerdon, Nicole E.

    1. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)

D

  1. D'Alfonso, Sandra

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Day, John W.

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. De Jager, Philip L.

    1. Open Access
      Complex relation of HLA-DRB1*1501, age at menarche, and age at multiple sclerosis onset
      Riley Bove, Alicia S. Chua, Zongqi Xia, Lori Chibnik, Philip L. De Jager, Tanuja Chitnis
      • Abstract
      • Full Text
      • Full Text (PDF)
    2. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)
    3. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Díaz-Manera, Jordi

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Dickson, Dennis W.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  6. Dougan, Charlotte F.

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)

E

  1. Eagle, Michelle

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Ertekin-Taner, Nilüfer

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)

F

  1. Falkous, Gavin

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)
  2. Ferman, Tanis J.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  3. Franceschetti, Silvana

    1. Open Access
      Progressive myoclonus epilepsy associated with SACS gene mutations
      Fábio A. Nascimento, Laura Canafoglia, Danah Aljaafari, Mikko Muona, Anna-Elina Lehesjoki, Samuel F. Berkovic, Silvana Franceschetti, Danielle M. Andrade
      • Full Text
      • Full Text (PDF)

G

  1. George, Michaela F.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Gianfrancesco, Milena A.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Glick, Laura R.

    1. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Gomez, Refujia

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Gorman, Grainne S.

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)
  6. Graff-Radford, Jonathan

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  7. Graff-Radford, Neill R.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  8. Greenberg, Steven M.

    1. Open Access
      APOE polymorphisms influence longitudinal lipid trends preceding intracerebral hemorrhage
      Chia-Ling Phuah, Miriam R. Raffeld, Alison M. Ayres, M. Edip Gurol, Anand Viswanathan, Steven M. Greenberg, Alessandro Biffi, Jonathan Rosand, Christopher D. Anderson
      • Abstract
      • Full Text
      • Full Text (PDF)
  9. Grieben, Ulrike

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  10. Gurol, M. Edip

    1. Open Access
      APOE polymorphisms influence longitudinal lipid trends preceding intracerebral hemorrhage
      Chia-Ling Phuah, Miriam R. Raffeld, Alison M. Ayres, M. Edip Gurol, Anand Viswanathan, Steven M. Greenberg, Alessandro Biffi, Jonathan Rosand, Christopher D. Anderson
      • Abstract
      • Full Text
      • Full Text (PDF)

H

  1. Harbo, Hanne F.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Hardy, Steven A.

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)
  3. Harms, Matthew

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Harris, Elizabeth

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Hauser, Stephen L.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Heckman, Michael G.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  7. Hedström, Anna

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  8. Hillert, Jan

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  9. Holmin, Staffan

    1. Open Access
      Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene
      Martin Paucar, Håkan Almqvist, Ahmed Saeed, Gösta Bergendal, Jan Ygge, Staffan Holmin, Ingemar Björkhem, Per Svenningsson
      • Full Text
      • Full Text (PDF)
  10. Horvath, Rita

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)

J

  1. James, Meredith

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Johnson, Keith A.

    1. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Jones, David T.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  4. Jones, Kristi J.

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)

K

  1. Kantarci, Kejal

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  2. Kantarci, Orhun H.

    1. Open Access
      A new dawn for genetic association studies in multiple sclerosis
      Orhun H. Kantarci
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Knopman, David S.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  4. Kockum, Ingrid

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)

L

  1. Labbé, Catherine

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  2. Lehesjoki, Anna-Elina

    1. Open Access
      Progressive myoclonus epilepsy associated with SACS gene mutations
      Fábio A. Nascimento, Laura Canafoglia, Danah Aljaafari, Mikko Muona, Anna-Elina Lehesjoki, Samuel F. Berkovic, Silvana Franceschetti, Danielle M. Andrade
      • Full Text
      • Full Text (PDF)
  3. Leone, Maurizio A.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Lochmüller, Hanns

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Lorenzo-Betancor, Oswaldo

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  6. Lowe, Val J.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)

M

  1. Mayhew, Anna

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Mendell, Jerry R.

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Moore, Ursula

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Mori-Yoshimura, Madoka

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Muona, Mikko

    1. Open Access
      Progressive myoclonus epilepsy associated with SACS gene mutations
      Fábio A. Nascimento, Laura Canafoglia, Danah Aljaafari, Mikko Muona, Anna-Elina Lehesjoki, Samuel F. Berkovic, Silvana Franceschetti, Danielle M. Andrade
      • Full Text
      • Full Text (PDF)
  6. Murray, Melissa E.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)

N

  1. Nascimento, Fábio A.

    1. Open Access
      Progressive myoclonus epilepsy associated with SACS gene mutations
      Fábio A. Nascimento, Laura Canafoglia, Danah Aljaafari, Mikko Muona, Anna-Elina Lehesjoki, Samuel F. Berkovic, Silvana Franceschetti, Danielle M. Andrade
      • Full Text
      • Full Text (PDF)
  2. Ng, Yi Shiau

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)

O

  1. O'Mahony, Olivia

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)
  2. Ogaki, Kotaro

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  3. Oksenberg, Jorge R.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Olsson, Tomas

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Oturai, Annette B.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)

P

  1. Paradas, Carmen

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Parisi, Joseph E.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  3. Patsopoulos, Nikolaos A.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Paucar, Martin

    1. Open Access
      Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene
      Martin Paucar, Håkan Almqvist, Ahmed Saeed, Gösta Bergendal, Jan Ygge, Staffan Holmin, Ingemar Björkhem, Per Svenningsson
      • Full Text
      • Full Text (PDF)
  5. Pegoraro, Elena

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Pestronk, Alan

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  7. Petersen, Ronald C.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  8. Phuah, Chia-Ling

    1. Open Access
      APOE polymorphisms influence longitudinal lipid trends preceding intracerebral hemorrhage
      Chia-Ling Phuah, Miriam R. Raffeld, Alison M. Ayres, M. Edip Gurol, Anand Viswanathan, Steven M. Greenberg, Alessandro Biffi, Jonathan Rosand, Christopher D. Anderson
      • Abstract
      • Full Text
      • Full Text (PDF)
  9. Poulton, Joanna

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)
  10. Pulst, Stefan M.

    1. Open Access
      Pub-Med-dot-com, here we come!
      Stefan M. Pulst
      • Full Text
      • Full Text (PDF)
  11. Purvis, Andrew I.

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)

R

  1. Rademakers, Rosa

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  2. Raffeld, Miriam R.

    1. Open Access
      APOE polymorphisms influence longitudinal lipid trends preceding intracerebral hemorrhage
      Chia-Ling Phuah, Miriam R. Raffeld, Alison M. Ayres, M. Edip Gurol, Anand Viswanathan, Steven M. Greenberg, Alessandro Biffi, Jonathan Rosand, Christopher D. Anderson
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Rayaprolu, Sruti

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  4. Replogle, Joseph M.

    1. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Rocha, Carolina Tesi

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Rocha, Mariana C.

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)
  7. Rosand, Jonathan

    1. Open Access
      APOE polymorphisms influence longitudinal lipid trends preceding intracerebral hemorrhage
      Chia-Ling Phuah, Miriam R. Raffeld, Alison M. Ayres, M. Edip Gurol, Anand Viswanathan, Steven M. Greenberg, Alessandro Biffi, Jonathan Rosand, Christopher D. Anderson
      • Abstract
      • Full Text
      • Full Text (PDF)
  8. Rose, Michael R.

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)
  9. Ross, Owen A.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  10. Rufibach, Laura

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  11. Ryan, Katie J.

    1. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)

S

  1. Saeed, Ahmed

    1. Open Access
      Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene
      Martin Paucar, Håkan Almqvist, Ahmed Saeed, Gösta Bergendal, Jan Ygge, Staffan Holmin, Ingemar Björkhem, Per Svenningsson
      • Full Text
      • Full Text (PDF)
  2. Salort-Campana, Emmanuelle

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Savica, Rodolfo

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  4. Schaefer, Catherine

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Schneider, Julie A.

    1. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Schreiber-Katz, Olivia

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  7. Sellebjerg, Finn

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  8. Semplicini, Claudio

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  9. Shao, Xiaorong

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  10. Shen, Ling

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  11. Smith, Fiona E.

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  12. Smith, Glenn E.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  13. Søndergaard, Helle B.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  14. Sorensen, Per S.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  15. Sorosina, Melissa

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  16. Soto-Ortolaza, Alexandra I.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  17. Sperling, Reisa A.

    1. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)
  18. Spuler, Simone

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  19. Stojkovic, Tanya

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  20. Straub, Volker

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  21. Svenningsson, Per

    1. Open Access
      Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene
      Martin Paucar, Håkan Almqvist, Ahmed Saeed, Gösta Bergendal, Jan Ygge, Staffan Holmin, Ingemar Björkhem, Per Svenningsson
      • Full Text
      • Full Text (PDF)

T

  1. Takeda, Shin'ich

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Taylor, Bruce V.

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Taylor, Robert W.

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)
  4. Turnbull, Doug M.

    1. Open Access
      Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
      Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
      • Full Text
      • Full Text (PDF)

U

  1. Uitti, Ryan J.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)

V

  1. van der Mei, Ingrid

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. van Gerpen, Jay A.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  3. Viswanathan, Anand

    1. Open Access
      APOE polymorphisms influence longitudinal lipid trends preceding intracerebral hemorrhage
      Chia-Ling Phuah, Miriam R. Raffeld, Alison M. Ayres, M. Edip Gurol, Anand Viswanathan, Steven M. Greenberg, Alessandro Biffi, Jonathan Rosand, Christopher D. Anderson
      • Abstract
      • Full Text
      • Full Text (PDF)

W

  1. Walter, M.C.

    1. Open Access
      The Clinical Outcome Study for dysferlinopathyAn international multicenter study
      Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Walton, Ronald L.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)
  3. White, Charles C.

    1. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Wicklund, Matthew P.

    1. Open Access
      Rare disease clinical trialsPower in numbers
      Matthew P. Wicklund
      • Abstract
      • Full Text
      • Full Text (PDF)
  5. Winn, Phoebe A.

    1. Open Access
      Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
      Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
      • Abstract
      • Full Text
      • Full Text (PDF)
  6. Wszolek, Zbigniew K.

    1. Open Access
      TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
      Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
      • Full Text
      • Full Text (PDF)

X

  1. Xia, Zongqi

    1. Open Access
      Complex relation of HLA-DRB1*1501, age at menarche, and age at multiple sclerosis onset
      Riley Bove, Alicia S. Chua, Zongqi Xia, Lori Chibnik, Philip L. De Jager, Tanuja Chitnis
      • Abstract
      • Full Text
      • Full Text (PDF)

Y

  1. Ygge, Jan

    1. Open Access
      Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene
      Martin Paucar, Håkan Almqvist, Ahmed Saeed, Gösta Bergendal, Jan Ygge, Staffan Holmin, Ingemar Björkhem, Per Svenningsson
      • Full Text
      • Full Text (PDF)

Z

  1. Zhou, Yuan

    1. Open Access
      Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
      Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
      • Abstract
      • Full Text
      • Full Text (PDF)
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