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February 2023; 9 (1)

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A

  1. Abath-Neto, Osorio Lopes

    1. Open Access
      Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
      Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli

  2. Amprosi, Matthias

    1. Open Access
      Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia
      Matthias Amprosi, Elisabetta Indelicato, Andreas Eigentler, Josef Fritz, Wolfgang Nachbauer, Sylvia Boesch

  3. Andrade, Claudia Regina Furquim de

    1. Open Access
      Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
      Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli

  4. Artilheiro, Mariana Cunha

    1. Open Access
      Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
      Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli

B

  1. Benjamins-Stok, Marloes

    1. Open Access
      Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
      Fatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, Corien C. Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J. de Vries, Birgit Sikkema-Raddatz, Dineke S. Verbeek, Helga Westers, Cleo C. van Diemen

  2. Betensky, Rebecca A.

    1. Open Access
      Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum
      Jing Qian, Yiding Zhang, Rebecca A. Betensky, Bradley T. Hyman, Alberto Serrano-Pozo

  3. Boesch, Sylvia

    1. Open Access
      Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia
      Matthias Amprosi, Elisabetta Indelicato, Andreas Eigentler, Josef Fritz, Wolfgang Nachbauer, Sylvia Boesch

  4. Bönnemann, Carsten

    1. Open Access
      Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
      Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli

  5. Bourque, Pierre R.

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  6. Boycott, Kym M.

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  7. Brais, Bernard

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  8. Breiner, Ari

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  9. Brown, Emma

    1. Open Access
      Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
      Jasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, David Salat, Mark W. Logue, Julie Constantinescu, Kate Valerio, Mark W. Miller, Richard Sherva, Bertrand Russell Huber, William Milberg, Regina McGlinchey

  10. Brown, Jerry

    1. Open Access
      Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
      Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis

C

  1. Camelo, Clara Gontijo

    1. Open Access
      Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
      Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli

  2. Chinnery, Patrick F.

    1. Open Access
      High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease
      Alexander G. Murley, Yu Nie, Zoe Golder, Michael John Keogh, Colin Smith, James W. Ironside, Patrick F. Chinnery

  3. Christodoulou, John

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

  4. Constantinescu, Julie

    1. Open Access
      Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
      Jasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, David Salat, Mark W. Logue, Julie Constantinescu, Kate Valerio, Mark W. Miller, Richard Sherva, Bertrand Russell Huber, William Milberg, Regina McGlinchey

  5. Cooper, Sandra

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

  6. Cuber, Alicia

    1. Open Access
      Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
      Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis

D

  1. Dalfior-Junior, Luiz

    1. Open Access
      Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
      Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli

  2. Davis, Mark

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

  3. de Boer, Eddy N.

    1. Open Access
      Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
      Fatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, Corien C. Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J. de Vries, Birgit Sikkema-Raddatz, Dineke S. Verbeek, Helga Westers, Cleo C. van Diemen

  4. de Boer-Bergsma, Jelkje

    1. Open Access
      Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
      Fatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, Corien C. Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J. de Vries, Birgit Sikkema-Raddatz, Dineke S. Verbeek, Helga Westers, Cleo C. van Diemen

  5. de Vries, Jeroen J.

    1. Open Access
      Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
      Fatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, Corien C. Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J. de Vries, Birgit Sikkema-Raddatz, Dineke S. Verbeek, Helga Westers, Cleo C. van Diemen

  6. Donkervoort, Sandra

    1. Open Access
      Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
      Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli

  7. Dyment, David A.

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

E

  1. Eigentler, Andreas

    1. Open Access
      Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia
      Matthias Amprosi, Elisabetta Indelicato, Andreas Eigentler, Josef Fritz, Wolfgang Nachbauer, Sylvia Boesch

F

  1. Fonseca, Alulin Tacio Quadros Santos Monteiro

    1. Open Access
      Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
      Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli

  2. Fritz, Josef

    1. Open Access
      Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia
      Matthias Amprosi, Elisabetta Indelicato, Andreas Eigentler, Josef Fritz, Wolfgang Nachbauer, Sylvia Boesch

G

  1. Ghorbani, Fatemeh

    1. Open Access
      Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
      Fatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, Corien C. Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J. de Vries, Birgit Sikkema-Raddatz, Dineke S. Verbeek, Helga Westers, Cleo C. van Diemen

  2. Gibbs, Liliane

    1. Open Access
      Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
      Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis

  3. Golder, Zoe

    1. Open Access
      High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease
      Alexander G. Murley, Yu Nie, Zoe Golder, Michael John Keogh, Colin Smith, James W. Ironside, Patrick F. Chinnery

  4. Goodwill, Vanessa S.

    1. Open Access
      Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
      Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis

  5. Guo, Yiran

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

H

  1. Hakonarson, Hakon

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

  2. Harper, Mary-Ellen

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  3. Hartley, Taila

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  4. Hayes, Jasmeet Pannu

    1. Open Access
      Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
      Jasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, David Salat, Mark W. Logue, Julie Constantinescu, Kate Valerio, Mark W. Miller, Richard Sherva, Bertrand Russell Huber, William Milberg, Regina McGlinchey

  5. Hekimi, Siegfried

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  6. Huber, Bertrand Russell

    1. Open Access
      Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
      Jasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, David Salat, Mark W. Logue, Julie Constantinescu, Kate Valerio, Mark W. Miller, Richard Sherva, Bertrand Russell Huber, William Milberg, Regina McGlinchey

  7. Hurth, Kyle

    1. Open Access
      Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
      Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis

  8. Hyman, Bradley T.

    1. Open Access
      Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum
      Jing Qian, Yiding Zhang, Rebecca A. Betensky, Bradley T. Hyman, Alberto Serrano-Pozo

I

  1. Im, Regina

    1. Open Access
      Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
      Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis

  2. Indelicato, Elisabetta

    1. Open Access
      Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia
      Matthias Amprosi, Elisabetta Indelicato, Andreas Eigentler, Josef Fritz, Wolfgang Nachbauer, Sylvia Boesch

  3. Ironside, James W.

    1. Open Access
      High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease
      Alexander G. Murley, Yu Nie, Zoe Golder, Michael John Keogh, Colin Smith, James W. Ironside, Patrick F. Chinnery

  4. Ishikawa, Masumi

    1. Open Access
      Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1
      Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura, Tomomi Yamaguchi, Masumi Ishikawa, Tomoki Kosho, Yoshiki Sekijima

J

  1. Jarinova, Olga

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

K

  1. Keogh, Michael John

    1. Open Access
      High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease
      Alexander G. Murley, Yu Nie, Zoe Golder, Michael John Keogh, Colin Smith, James W. Ironside, Patrick F. Chinnery

  2. Kernohan, Kristin

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  3. Kimonis, Virginia

    1. Open Access
      Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
      Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis

  4. Knapper, Jurjen

    1. Open Access
      Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
      Fatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, Corien C. Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J. de Vries, Birgit Sikkema-Raddatz, Dineke S. Verbeek, Helga Westers, Cleo C. van Diemen

  5. Kondo, Yasufumi

    1. Open Access
      Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1
      Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura, Tomomi Yamaguchi, Masumi Ishikawa, Tomoki Kosho, Yoshiki Sekijima

  6. Kosho, Tomoki

    1. Open Access
      Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1
      Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura, Tomomi Yamaguchi, Masumi Ishikawa, Tomoki Kosho, Yoshiki Sekijima

L

  1. Laukaitis, Christina

    1. Open Access
      Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
      Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis

  2. Lochmüller, Hanns

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  3. Logue, Mark W.

    1. Open Access
      Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
      Jasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, David Salat, Mark W. Logue, Julie Constantinescu, Kate Valerio, Mark W. Miller, Richard Sherva, Bertrand Russell Huber, William Milberg, Regina McGlinchey

M

  1. Mahajan, Shalini

    1. Open Access
      Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
      Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis

  2. Mahoney, Ryan Patrick

    1. Open Access
      Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
      Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis

  3. Mancini, Grazia M.S.

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

  4. Massey, Sean

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

  5. McCusker, Elizabeth

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

  6. McGlinchey, Regina

    1. Open Access
      Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
      Jasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, David Salat, Mark W. Logue, Julie Constantinescu, Kate Valerio, Mark W. Miller, Richard Sherva, Bertrand Russell Huber, William Milberg, Regina McGlinchey

  7. McMillan, Hugh J.

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  8. Medeiros, Gisele Chagas de

    1. Open Access
      Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
      Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli

  9. Melkus, Gerd

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  10. Milberg, William

    1. Open Access
      Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
      Jasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, David Salat, Mark W. Logue, Julie Constantinescu, Kate Valerio, Mark W. Miller, Richard Sherva, Bertrand Russell Huber, William Milberg, Regina McGlinchey

  11. Miller, Mark W.

    1. Open Access
      Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
      Jasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, David Salat, Mark W. Logue, Julie Constantinescu, Kate Valerio, Mark W. Miller, Richard Sherva, Bertrand Russell Huber, William Milberg, Regina McGlinchey

  12. Moreau, Thibault

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

  13. Moreno, Cristiane Araujo Martins

    1. Open Access
      Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
      Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli

  14. Murley, Alexander G.

    1. Open Access
      High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease
      Alexander G. Murley, Yu Nie, Zoe Golder, Michael John Keogh, Colin Smith, James W. Ironside, Patrick F. Chinnery

N

  1. Nachbauer, Wolfgang

    1. Open Access
      Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia
      Matthias Amprosi, Elisabetta Indelicato, Andreas Eigentler, Josef Fritz, Wolfgang Nachbauer, Sylvia Boesch

  2. Nakamura, Katsuya

    1. Open Access
      Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1
      Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura, Tomomi Yamaguchi, Masumi Ishikawa, Tomoki Kosho, Yoshiki Sekijima

  3. Nie, Yu

    1. Open Access
      High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease
      Alexander G. Murley, Yu Nie, Zoe Golder, Michael John Keogh, Colin Smith, James W. Ironside, Patrick F. Chinnery

P

  1. Parmar, Gaganvir

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  2. Pierce, Meghan E.

    1. Open Access
      Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
      Jasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, David Salat, Mark W. Logue, Julie Constantinescu, Kate Valerio, Mark W. Miller, Richard Sherva, Bertrand Russell Huber, William Milberg, Regina McGlinchey

  3. Pileggi, Chantal A.

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  4. Pizzo, Donald P.

    1. Open Access
      Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
      Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis

  5. Pringle, C. Elizabeth

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

Q

  1. Qian, Jing

    1. Open Access
      Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum
      Jing Qian, Yiding Zhang, Rebecca A. Betensky, Bradley T. Hyman, Alberto Serrano-Pozo

R

  1. Rakwongkhachon, Supphakorn

    1. Open Access
      Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated SyndromeA Case Report
      Patra Yeetong, Natthaporn Tanpowpong, Supphakorn Rakwongkhachon, Kanya Suphapeetiporn, Vorasuk Shotelersuk

  2. Reed, Umbertina Conti

    1. Open Access
      Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
      Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli

  3. Riley, Lisa G.

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

S

  1. Salat, David

    1. Open Access
      Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
      Jasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, David Salat, Mark W. Logue, Julie Constantinescu, Kate Valerio, Mark W. Miller, Richard Sherva, Bertrand Russell Huber, William Milberg, Regina McGlinchey

  2. Sampaio, Marcos Loreto

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  3. Sandaradura, Sarah A.

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

  4. Sassi, Fernanda Chiarion

    1. Open Access
      Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
      Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli

  5. Sekijima, Yoshiki

    1. Open Access
      Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1
      Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura, Tomomi Yamaguchi, Masumi Ishikawa, Tomoki Kosho, Yoshiki Sekijima

  6. Serrano-Pozo, Alberto

    1. Open Access
      Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum
      Jing Qian, Yiding Zhang, Rebecca A. Betensky, Bradley T. Hyman, Alberto Serrano-Pozo

  7. Sherva, Richard

    1. Open Access
      Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
      Jasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, David Salat, Mark W. Logue, Julie Constantinescu, Kate Valerio, Mark W. Miller, Richard Sherva, Bertrand Russell Huber, William Milberg, Regina McGlinchey

  8. Shmara, Alyaa

    1. Open Access
      Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
      Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis

  9. Shotelersuk, Vorasuk

    1. Open Access
      Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated SyndromeA Case Report
      Patra Yeetong, Natthaporn Tanpowpong, Supphakorn Rakwongkhachon, Kanya Suphapeetiporn, Vorasuk Shotelersuk

  10. Sikkema-Raddatz, Birgit

    1. Open Access
      Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
      Fatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, Corien C. Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J. de Vries, Birgit Sikkema-Raddatz, Dineke S. Verbeek, Helga Westers, Cleo C. van Diemen

  11. Silva, Andre Macedo Serafim

    1. Open Access
      Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
      Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli

  12. Smith, Colin

    1. Open Access
      High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease
      Alexander G. Murley, Yu Nie, Zoe Golder, Michael John Keogh, Colin Smith, James W. Ironside, Patrick F. Chinnery

  13. Smith, Ian C.

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  14. Smits, Daphne

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

  15. Suphapeetiporn, Kanya

    1. Open Access
      Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated SyndromeA Case Report
      Patra Yeetong, Natthaporn Tanpowpong, Supphakorn Rakwongkhachon, Kanya Suphapeetiporn, Vorasuk Shotelersuk

T

  1. Tanpowpong, Natthaporn

    1. Open Access
      Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated SyndromeA Case Report
      Patra Yeetong, Natthaporn Tanpowpong, Supphakorn Rakwongkhachon, Kanya Suphapeetiporn, Vorasuk Shotelersuk

  2. Tchan, Michel

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

  3. Thauvin-Robinet, Christel

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

  4. Thomas, Quentin

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

V

  1. Valerio, Kate

    1. Open Access
      Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
      Jasmeet Pannu Hayes, Meghan E. Pierce, Emma Brown, David Salat, Mark W. Logue, Julie Constantinescu, Kate Valerio, Mark W. Miller, Richard Sherva, Bertrand Russell Huber, William Milberg, Regina McGlinchey

  2. Van Bergen, Nicole J.

    1. Open Access
      Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
      Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M.S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

  3. van Diemen, Cleo C.

    1. Open Access
      Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
      Fatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, Corien C. Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J. de Vries, Birgit Sikkema-Raddatz, Dineke S. Verbeek, Helga Westers, Cleo C. van Diemen

  4. Verbeek, Dineke S.

    1. Open Access
      Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
      Fatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, Corien C. Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J. de Vries, Birgit Sikkema-Raddatz, Dineke S. Verbeek, Helga Westers, Cleo C. van Diemen

  5. Verschuuren-Bemelmans, Corien C.

    1. Open Access
      Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
      Fatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, Corien C. Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J. de Vries, Birgit Sikkema-Raddatz, Dineke S. Verbeek, Helga Westers, Cleo C. van Diemen

W

  1. Wang, Ying

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  2. Warman-Chardon, Jodi

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

  3. Westers, Helga

    1. Open Access
      Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
      Fatemeh Ghorbani, Eddy N. de Boer, Marloes Benjamins-Stok, Corien C. Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J. de Vries, Birgit Sikkema-Raddatz, Dineke S. Verbeek, Helga Westers, Cleo C. van Diemen

  4. Woulfe, John

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon

Y

  1. Yamaguchi, Tomomi

    1. Open Access
      Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1
      Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura, Tomomi Yamaguchi, Masumi Ishikawa, Tomoki Kosho, Yoshiki Sekijima

  2. Yeetong, Patra

    1. Open Access
      Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated SyndromeA Case Report
      Patra Yeetong, Natthaporn Tanpowpong, Supphakorn Rakwongkhachon, Kanya Suphapeetiporn, Vorasuk Shotelersuk

  3. Yoshinaga, Tsuneaki

    1. Open Access
      Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1
      Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura, Tomomi Yamaguchi, Masumi Ishikawa, Tomoki Kosho, Yoshiki Sekijima

Z

  1. Zanoteli, Edmar

    1. Open Access
      Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
      Cristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, Clara Gontijo Camelo, Gisele Chagas de Medeiros, Fernanda Chiarion Sassi, Claudia Regina Furquim de Andrade, Sandra Donkervoort, Andre Macedo Serafim Silva, Luiz Dalfior-Junior, Osorio Lopes Abath-Neto, Umbertina Conti Reed, Carsten Bönnemann, Edmar Zanoteli

  2. Zhang, Yiding

    1. Open Access
      Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum
      Jing Qian, Yiding Zhang, Rebecca A. Betensky, Bradley T. Hyman, Alberto Serrano-Pozo

  3. Zwicker, Jocelyn

    1. Open Access
      Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
      Ian C. Smith, Chantal A. Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J. McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar, Pierre R. Bourque, Ari Breiner, Jocelyn Zwicker, C. Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A. Dyment, Bernard Brais, Kym M. Boycott, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon
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Neurology Genetics: 9 (1)
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