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April 2019; 5 (2)

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A

  1. Abdenur, Jose E.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  2. Altmüller, Janine

    1. Open Access
      Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
      Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott

  3. Antonellis, Anthony

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  4. Asselbergh, Bob

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

B

  1. Baets, Jonathan

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  2. Ballard, Alison

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  3. Bandres-Ciga, Sara

    1. Open Access
      Unraveling the genetic complexity of Alzheimer disease with Mendelian Randomization
      Sara Bandres-Ciga, Faraz Faghri

  4. Bengoechea, Rocio

    1. Open Access
      Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D
      Andrew R. Findlay, Rocio Bengoechea, Sara K. Pittman, Tsui-Fen Chou, Heather L. True, Conrad C. Weihl

  5. Bennett, Alexis H.

    1. Open Access
      Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
      Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, Claire Grosgogeat, Alexis H. Bennett, Nikkola Carmichael, Elicia Estrella, Basil T. Darras, Natasha Y. Frank, Joel Krier, Rachelle Gaudet, Vandana A. Gupta

  6. Ben Yaou, Rabah

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  7. Beson, Brent

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  8. Beuvin, Maud

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  9. Boland, Anne

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  10. Bonne, Gisèle

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  11. Bönnemann, Carsten G.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  12. Boyer, Monica

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  13. Brand, Thomas

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  14. Brandner, Sebastian

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  15. Bremner, Fion

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  16. Bugiardini, Enrico

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  17. Butterfield, Russell J.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

C

  1. Caldecott, Keith W.

    1. Open Access
      Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
      Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott

  2. Carmichael, Nikkola

    1. Open Access
      Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
      Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, Claire Grosgogeat, Alexis H. Bennett, Nikkola Carmichael, Elicia Estrella, Basil T. Darras, Natasha Y. Frank, Joel Krier, Rachelle Gaudet, Vandana A. Gupta

  3. Catoire, Hélène

    1. Open Access
      Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
      Jay P. Ross, Claire S. Leblond, Hélène Catoire, Kathryn Volkening, Michael Strong, Lorne Zinman, Janice Robertson, Patrick A. Dion, Guy A. Rouleau

  4. Chou, Tsui-Fen

    1. Open Access
      Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D
      Andrew R. Findlay, Rocio Bengoechea, Sara K. Pittman, Tsui-Fen Chou, Heather L. True, Conrad C. Weihl

  5. Cortese, Andrea

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  6. Cox, Mary O.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

D

  1. Dankwa, Lois

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  2. Darras, Basil T.

    1. Open Access
      Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
      Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, Claire Grosgogeat, Alexis H. Bennett, Nikkola Carmichael, Elicia Estrella, Basil T. Darras, Natasha Y. Frank, Joel Krier, Rachelle Gaudet, Vandana A. Gupta

  3. De Bleecker, Jan L.

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  4. De Jonghe, Peter

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  5. Deleuze, Jean-François

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  6. De Paepe, Boel

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  7. De Ridder, Willem

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  8. Dion, Patrick A.

    1. Open Access
      Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
      Jay P. Ross, Claire S. Leblond, Hélène Catoire, Kathryn Volkening, Michael Strong, Lorne Zinman, Janice Robertson, Patrick A. Dion, Guy A. Rouleau

  9. Donaldson, Kevin

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  10. Donkervoort, Sandra

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  11. Dowling, James J.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

E

  1. Emrick, Lisa

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  2. Estrella, Elicia

    1. Open Access
      Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
      Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, Claire Grosgogeat, Alexis H. Bennett, Nikkola Carmichael, Elicia Estrella, Basil T. Darras, Natasha Y. Frank, Joel Krier, Rachelle Gaudet, Vandana A. Gupta

  3. Eymard, Bruno

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

F

  1. Faghri, Faraz

    1. Open Access
      Unraveling the genetic complexity of Alzheimer disease with Mendelian Randomization
      Sara Bandres-Ciga, Faraz Faghri

  2. Fidler, Mary E.

    1. Open Access
      Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
      Peng Soon Ng, Marcus V. Pinto, Jadee L. Neff, Linda Hasadsri, Edward W. Highsmith, Mary E. Fidler, Ralitza H. Gavrilova, Christopher J. Klein

  3. Findlay, Andrew R.

    1. Open Access
      Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D
      Andrew R. Findlay, Rocio Bengoechea, Sara K. Pittman, Tsui-Fen Chou, Heather L. True, Conrad C. Weihl

  4. Frank, Natasha Y.

    1. Open Access
      Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
      Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, Claire Grosgogeat, Alexis H. Bennett, Nikkola Carmichael, Elicia Estrella, Basil T. Darras, Natasha Y. Frank, Joel Krier, Rachelle Gaudet, Vandana A. Gupta

G

  1. Gao, Mingshi

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  2. Gaudet, Rachelle

    1. Open Access
      Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
      Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, Claire Grosgogeat, Alexis H. Bennett, Nikkola Carmichael, Elicia Estrella, Basil T. Darras, Natasha Y. Frank, Joel Krier, Rachelle Gaudet, Vandana A. Gupta

  3. Gavrilova, Ralitza H.

    1. Open Access
      Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
      Peng Soon Ng, Marcus V. Pinto, Jadee L. Neff, Linda Hasadsri, Edward W. Highsmith, Mary E. Fidler, Ralitza H. Gavrilova, Christopher J. Klein

  4. Gibbons, Melissa A.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  5. Grosgogeat, Claire

    1. Open Access
      Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
      Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, Claire Grosgogeat, Alexis H. Bennett, Nikkola Carmichael, Elicia Estrella, Basil T. Darras, Natasha Y. Frank, Joel Krier, Rachelle Gaudet, Vandana A. Gupta

  6. Grosmann, Carla

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  7. Gupta, Neerja

    1. Open Access
      Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
      Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott

  8. Gupta, Vandana A.

    1. Open Access
      Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
      Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, Claire Grosgogeat, Alexis H. Bennett, Nikkola Carmichael, Elicia Estrella, Basil T. Darras, Natasha Y. Frank, Joel Krier, Rachelle Gaudet, Vandana A. Gupta

H

  1. Hamanaka, Kohei

    1. Open Access
      Leaky splicing variant in sepiapterin reductase deficiencyAre milder cases escaping diagnosis?
      Yu Nakagama, Kohei Hamanaka, Masakazu Mimaki, Haruo Shintaku, Satoko Miyatake, Naomichi Matsumoto, Koji Hirohata, Ryo Inuzuka, Akira Oka

  2. Hanna, Michael G.

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  3. Hanzlikova, Hana

    1. Open Access
      Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
      Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott

  4. Hargreaves, Iain P.

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  5. Hasadsri, Linda

    1. Open Access
      Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
      Peng Soon Ng, Marcus V. Pinto, Jadee L. Neff, Linda Hasadsri, Edward W. Highsmith, Mary E. Fidler, Ralitza H. Gavrilova, Christopher J. Klein

  6. Highsmith, Edward W.

    1. Open Access
      Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
      Peng Soon Ng, Marcus V. Pinto, Jadee L. Neff, Linda Hasadsri, Edward W. Highsmith, Mary E. Fidler, Ralitza H. Gavrilova, Christopher J. Klein

  7. Hirohata, Koji

    1. Open Access
      Leaky splicing variant in sepiapterin reductase deficiencyAre milder cases escaping diagnosis?
      Yu Nakagama, Kohei Hamanaka, Masakazu Mimaki, Haruo Shintaku, Satoko Miyatake, Naomichi Matsumoto, Koji Hirohata, Ryo Inuzuka, Akira Oka

  8. Horga, Alejandro

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  9. Hou, Ya-Ming

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  10. Houlden, Henry

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

I

  1. Inuzuka, Ryo

    1. Open Access
      Leaky splicing variant in sepiapterin reductase deficiencyAre milder cases escaping diagnosis?
      Yu Nakagama, Kohei Hamanaka, Masakazu Mimaki, Haruo Shintaku, Satoko Miyatake, Naomichi Matsumoto, Koji Hirohata, Ryo Inuzuka, Akira Oka

J

  1. Janas, Joanne S.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  2. Jaunmuktane, Zane

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  3. Jiang, Yanjun

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  4. Johnson, Katherine

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  5. Jones, Karra A.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

K

  1. Kalasova, Ilona

    1. Open Access
      Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
      Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott

  2. Klein, Christopher J.

    1. Open Access
      Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
      Peng Soon Ng, Marcus V. Pinto, Jadee L. Neff, Linda Hasadsri, Edward W. Highsmith, Mary E. Fidler, Ralitza H. Gavrilova, Christopher J. Klein

  3. Konersman, Chamindra G.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  4. Krier, Joel

    1. Open Access
      Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
      Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, Claire Grosgogeat, Alexis H. Bennett, Nikkola Carmichael, Elicia Estrella, Basil T. Darras, Natasha Y. Frank, Joel Krier, Rachelle Gaudet, Vandana A. Gupta

L

  1. Lalani, Seema R.

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  2. Landsverk, Megan L.

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  3. Leblond, Claire S.

    1. Open Access
      Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
      Jay P. Ross, Claire S. Leblond, Hélène Catoire, Kathryn Volkening, Michael Strong, Lorne Zinman, Janice Robertson, Patrick A. Dion, Guy A. Rouleau

  4. Lee, Angela J.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  5. Lee, Sansan

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  6. Leshner, Robert T.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  7. Lewis, Andrea M.

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  8. Li, Meixia

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  9. Li, Yun

    1. Open Access
      Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
      Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott

  10. Li, Yuxin

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  11. Lin, Jie

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  12. Lu, Jiahong

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  13. Luo, Sushan

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

M

  1. Magoulas, Pilar L.

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  2. Maisonobe, Thierry

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  3. Malicki, Denise M.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  4. Manole, Andreea

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  5. Marchetti, Michael Mario

    1. Open Access
      Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
      Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, Claire Grosgogeat, Alexis H. Bennett, Nikkola Carmichael, Elicia Estrella, Basil T. Darras, Natasha Y. Frank, Joel Krier, Rachelle Gaudet, Vandana A. Gupta

  6. Masson, Cécile

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  7. Mathews, Katherine D.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  8. Matsumoto, Naomichi

    1. Open Access
      Leaky splicing variant in sepiapterin reductase deficiencyAre milder cases escaping diagnosis?
      Yu Nakagama, Kohei Hamanaka, Masakazu Mimaki, Haruo Shintaku, Satoko Miyatake, Naomichi Matsumoto, Koji Hirohata, Ryo Inuzuka, Akira Oka

  9. Mayeux, Richard

    1. Open Access
      Genomic variation in educational attainment modifies Alzheimer disease risk
      Neha S. Raghavan, Badri Vardarajan, Richard Mayeux

  10. Mei, Hui

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  11. Mimaki, Masakazu

    1. Open Access
      Leaky splicing variant in sepiapterin reductase deficiencyAre milder cases escaping diagnosis?
      Yu Nakagama, Kohei Hamanaka, Masakazu Mimaki, Haruo Shintaku, Satoko Miyatake, Naomichi Matsumoto, Koji Hirohata, Ryo Inuzuka, Akira Oka

  12. Minikel, Eric V.

    1. Open Access
      Antisense oligonucleotidesA primer
      Daniel R. Scoles, Eric V. Minikel, Stefan M. Pulst

  13. Miyatake, Satoko

    1. Open Access
      Leaky splicing variant in sepiapterin reductase deficiencyAre milder cases escaping diagnosis?
      Yu Nakagama, Kohei Hamanaka, Masakazu Mimaki, Haruo Shintaku, Satoko Miyatake, Naomichi Matsumoto, Koji Hirohata, Ryo Inuzuka, Akira Oka

  14. Moore, Steven A.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

N

  1. Nakagama, Yu

    1. Open Access
      Leaky splicing variant in sepiapterin reductase deficiencyAre milder cases escaping diagnosis?
      Yu Nakagama, Kohei Hamanaka, Masakazu Mimaki, Haruo Shintaku, Satoko Miyatake, Naomichi Matsumoto, Koji Hirohata, Ryo Inuzuka, Akira Oka

  2. Neff, Jadee L.

    1. Open Access
      Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
      Peng Soon Ng, Marcus V. Pinto, Jadee L. Neff, Linda Hasadsri, Edward W. Highsmith, Mary E. Fidler, Ralitza H. Gavrilova, Christopher J. Klein

  3. Nelson, Isabelle

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  4. Ng, Peng Soon

    1. Open Access
      Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
      Peng Soon Ng, Marcus V. Pinto, Jadee L. Neff, Linda Hasadsri, Edward W. Highsmith, Mary E. Fidler, Ralitza H. Gavrilova, Christopher J. Klein

  5. Niu, Zhiyv

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

O

  1. Oka, Akira

    1. Open Access
      Leaky splicing variant in sepiapterin reductase deficiencyAre milder cases escaping diagnosis?
      Yu Nakagama, Kohei Hamanaka, Masakazu Mimaki, Haruo Shintaku, Satoko Miyatake, Naomichi Matsumoto, Koji Hirohata, Ryo Inuzuka, Akira Oka

  2. Oprescu, Stephanie N.

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

P

  1. Person, Richard E.

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  2. Pinto, Marcus V.

    1. Open Access
      Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
      Peng Soon Ng, Marcus V. Pinto, Jadee L. Neff, Linda Hasadsri, Edward W. Highsmith, Mary E. Fidler, Ralitza H. Gavrilova, Christopher J. Klein

  3. Pitceathly, Robert D.S.

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  4. Pittman, Alan M.

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  5. Pittman, Sara K.

    1. Open Access
      Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D
      Andrew R. Findlay, Rocio Bengoechea, Sara K. Pittman, Tsui-Fen Chou, Heather L. True, Conrad C. Weihl

  6. Polke, James M.

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  7. Pulst, Stefan M.

    1. Open Access
      Antisense oligonucleotidesA primer
      Daniel R. Scoles, Eric V. Minikel, Stefan M. Pulst

R

  1. Raghavan, Neha S.

    1. Open Access
      Genomic variation in educational attainment modifies Alzheimer disease risk
      Neha S. Raghavan, Badri Vardarajan, Richard Mayeux

  2. Rebelo, Adriana P.

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  3. Reilly, Mary M.

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  4. Reynolds, John J.

    1. Open Access
      Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
      Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott

  5. Robertson, Janice

    1. Open Access
      Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
      Jay P. Ross, Claire S. Leblond, Hélène Catoire, Kathryn Volkening, Michael Strong, Lorne Zinman, Janice Robertson, Patrick A. Dion, Guy A. Rouleau

  6. Rosenfeld, Jill A.

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  7. Ross, Jay P.

    1. Open Access
      Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
      Jay P. Ross, Claire S. Leblond, Hélène Catoire, Kathryn Volkening, Michael Strong, Lorne Zinman, Janice Robertson, Patrick A. Dion, Guy A. Rouleau

  8. Rouleau, Guy A.

    1. Open Access
      Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
      Jay P. Ross, Claire S. Leblond, Hélène Catoire, Kathryn Volkening, Michael Strong, Lorne Zinman, Janice Robertson, Patrick A. Dion, Guy A. Rouleau

S

  1. Scherer, Steven S.

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

  2. Schindler, Roland

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  3. Scoles, Daniel R.

    1. Open Access
      Antisense oligonucleotidesA primer
      Daniel R. Scoles, Eric V. Minikel, Stefan M. Pulst

  4. Shintaku, Haruo

    1. Open Access
      Leaky splicing variant in sepiapterin reductase deficiencyAre milder cases escaping diagnosis?
      Yu Nakagama, Kohei Hamanaka, Masakazu Mimaki, Haruo Shintaku, Satoko Miyatake, Naomichi Matsumoto, Koji Hirohata, Ryo Inuzuka, Akira Oka

  5. Slavin, Thomas P.

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  6. Song, Jie

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  7. Stewart, Grant S.

    1. Open Access
      Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
      Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott

  8. Straub, Volker

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  9. Strong, Michael

    1. Open Access
      Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
      Jay P. Ross, Claire S. Leblond, Hélène Catoire, Kathryn Volkening, Michael Strong, Lorne Zinman, Janice Robertson, Patrick A. Dion, Guy A. Rouleau

  10. Sun, Chong

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  11. Symoens, Sofie

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

T

  1. Töpf, Ana

    1. Open Access
      Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
      Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe, Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, Bruno Eymard, Sofie Symoens, Roland Schindler, Thomas Brand, Katherine Johnson, Ana Töpf, Volker Straub, Peter De Jonghe, Jan L. De Bleecker, Gisèle Bonne, Jonathan Baets

  2. Toth-Petroczy, Agnes

    1. Open Access
      Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
      Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, Claire Grosgogeat, Alexis H. Bennett, Nikkola Carmichael, Elicia Estrella, Basil T. Darras, Natasha Y. Frank, Joel Krier, Rachelle Gaudet, Vandana A. Gupta

  3. True, Heather L.

    1. Open Access
      Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D
      Andrew R. Findlay, Rocio Bengoechea, Sara K. Pittman, Tsui-Fen Chou, Heather L. True, Conrad C. Weihl

V

  1. Vardarajan, Badri

    1. Open Access
      Genomic variation in educational attainment modifies Alzheimer disease risk
      Neha S. Raghavan, Badri Vardarajan, Richard Mayeux

  2. Velilla, Jose

    1. Open Access
      Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
      Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, Claire Grosgogeat, Alexis H. Bennett, Nikkola Carmichael, Elicia Estrella, Basil T. Darras, Natasha Y. Frank, Joel Krier, Rachelle Gaudet, Vandana A. Gupta

  3. Volkening, Kathryn

    1. Open Access
      Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
      Jay P. Ross, Claire S. Leblond, Hélène Catoire, Kathryn Volkening, Michael Strong, Lorne Zinman, Janice Robertson, Patrick A. Dion, Guy A. Rouleau

W

  1. Walkiewicz, Magdalena

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  2. Wang, Ching

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  3. Wang, Yin

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  4. Weihl, Conrad C.

    1. Open Access
      Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D
      Andrew R. Findlay, Rocio Bengoechea, Sara K. Pittman, Tsui-Fen Chou, Heather L. True, Conrad C. Weihl

  5. Weiss, Robert B.

    1. Open Access
      Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
      Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bönnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews

  6. Wollnik, Bernd

    1. Open Access
      Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
      Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott

  7. Woodward, Catherine E.

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly

X

  1. Xi, Jianying

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

Y

  1. Yang, Yaping

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  2. Yigit, Gökhan

    1. Open Access
      Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ
      Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott

Z

  1. Zhang, Victor W.

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  2. Zhao, Chongbo

    1. Open Access
      Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
      Chong Sun, Jie Song, Yanjun Jiang, Chongbo Zhao, Jiahong Lu, Yuxin Li, Yin Wang, Mingshi Gao, Jianying Xi, Sushan Luo, Meixia Li, Kevin Donaldson, Stephanie N. Oprescu, Thomas P. Slavin, Sansan Lee, Pilar L. Magoulas, Andrea M. Lewis, Lisa Emrick, Seema R. Lalani, Zhiyv Niu, Megan L. Landsverk, Magdalena Walkiewicz, Richard E. Person, Hui Mei, Jill A. Rosenfeld, Yaping Yang, Anthony Antonellis, Ya-Ming Hou, Jie Lin, Victor W. Zhang

  3. Zinman, Lorne

    1. Open Access
      Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
      Jay P. Ross, Claire S. Leblond, Hélène Catoire, Kathryn Volkening, Michael Strong, Lorne Zinman, Janice Robertson, Patrick A. Dion, Guy A. Rouleau

  4. Züchner, Stephan

    1. Open Access
      Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
      Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P. Rebelo, Catherine E. Woodward, Iain P. Hargreaves, Andrea Cortese, Alan M. Pittman, Sebastian Brandner, James M. Polke, Robert D.S. Pitceathly, Stephan Züchner, Michael G. Hanna, Steven S. Scherer, Henry Houlden, Mary M. Reilly
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Neurology Genetics: 5 (2)
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