Ichizo Nishino

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 94

Top Venues

Neurology

Nature genetics

Journal of human genetics

Human genome variation

National Institute of Neuroscience, National Center of Neurology and Psychiatry

This page only lists publications with an associated author ORCID identifier.

Affiliation History

National Institute of Neuroscience, National Center of Neurology and Psychiatry Aug 01 2001

Japan

Director :: Department of Neuromuscular Research

Publications

Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Naoki Suzuki, Madoka Mori-Yoshimura, Masahisa Katsuno, Masanori P Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Takuhiro Yamaguchi, Ichizo Nishino, Masashi Aoki
Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study. Journal of neurology, neurosurgery, and psychiatry (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics (2024)
Munenori Oyama, Marie-Therese Holzer, Yuko Ohnuki, Yoshihiko Saito, Yukako Nishimori, Shingo Suzuki, Takashi Shiina, Sarah Leonard-Louis, Olivier Benveniste, Udo Schneider, Werner Stenzel, Ichizo Nishino, Shigeaki Suzuki, Akinori Uruha
Pathologic Features of Anti-Ku Myositis. Neurology 102 (8) (2024)
Rasha El Sherif, Yoshihiko Saito, Tomonari Awaya, Satoru Noguchi, Ichizo Nishino
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD. Neurology. Genetics 10 (2) (2024)
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics 106 (1) (2024)
Rasha El Sherif, Yoshihiko Saito, Tomonari Awaya, Satoru Noguchi, Ichizo Nishino
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD. Neurology. Genetics 10 (2) (2024)
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics (2024)
Munenori Oyama, Marie-Therese Holzer, Yuko Ohnuki, Yoshihiko Saito, Yukako Nishimori, Shingo Suzuki, Takashi Shiina, Sarah Leonard-Louis, Olivier Benveniste, Udo Schneider, Werner Stenzel, Ichizo Nishino, Shigeaki Suzuki, Akinori Uruha
Pathologic Features of Anti-Ku Myositis. Neurology 102 (8) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Munenori Oyama, Marie-Therese Holzer, Yuko Ohnuki, Yoshihiko Saito, Yukako Nishimori, Shingo Suzuki, Takashi Shiina, Sarah Leonard-Louis, Olivier Benveniste, Udo Schneider, Werner Stenzel, Ichizo Nishino, Shigeaki Suzuki, Akinori Uruha
Pathologic Features of Anti-Ku Myositis. Neurology 102 (8) (2024)
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics 106 (1) (2024)
Munenori Oyama, Marie-Therese Holzer, Yuko Ohnuki, Yoshihiko Saito, Yukako Nishimori, Shingo Suzuki, Takashi Shiina, Sarah Leonard-Louis, Olivier Benveniste, Udo Schneider, Werner Stenzel, Ichizo Nishino, Shigeaki Suzuki, Akinori Uruha
Pathologic Features of Anti-Ku Myositis. Neurology 102 (8) (2024)
Ryota Naito, Ryosuke Hiwa, Ryuta Inaba, Kosaku Murakami, Akihiko Kitoh, Yo Kaku, Teruasa Murata, Yuki Ichimura, Hanako Koguchi-Yoshioka, Ichizo Nishino, Mirei Shirakashi, Hideo Onizawa, Hideaki Tsuji, Koji Kitagori, Shuji Akizuki, Ran Nakashima, Akira Onishi, Masao Tanaka, Hajime Yoshifuji, Akio Morinobu
A Case of Vesiculobullous Dermatomyositis with Anti-NXP-2 Antibody without Malignancy. Modern rheumatology case reports (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics 106 (1) (2024)
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R Davis, Ichizo Nishino, Zehra Piraye Oflazer, Valerie Race, Venugopalan Yamuna Vishnu, Victoria Williams, Claudia Ferreira Da Rosa Sobreira, Silvère M van der Maarel, Steven A Moore, Nicol C Voermans, Richard J L F Lemmers
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clinical genetics 106 (1) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Shinsuke Kikuchi, Yoshihiko Saito, Takahisa Tateishi, Ken-Ichi Irie, Tatsuya Imai, Makoto Morimitsu, Erina Iwanaga, Matthew R Watts, Takayuki Taniwaki, Ichizo Nishino
A 73-year-old Japanese Woman With Rheumatoid Arthritis and Exposure to Water From a Well. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 79 (2) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Shigemi Kimura, Noriko Miyake, Shiro Ozasa, Hiroe Ueno, Yoshinobu Ohtani, Yutaka Takaoka, Ichizo Nishino
Increase in cathepsin K gene expression in Duchenne muscular dystrophy skeletal muscle. Neuropathology : official journal of the Japanese Society of Neuropathology (2024)
Yuji Nagatomo, Saeko Yoshizawa, Yasushi Oya, Ichizo Nishino
Anti-mitochondrial antibody-mediated myopathy with cardiac involvement: reply. European heart journal. Case reports 7 (8) (2023)
Jantima Tanboon, Rasha El Sherif, Michio Inoue, Mariko Okubo, Edoardo Malfatti, Ichizo Nishino
A 53-year-old man with a 16-year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging. Brain pathology (Zurich, Switzerland) (2023)
Jantima Tanboon, Michio Inoue, Shinya Hirakawa, Hisateru Tachimori, Shinichiro Hayashi, Satoru Noguchi, Naoko Okiyama, Manabu Fujimoto, Shigeaki Suzuki, Ichizo Nishino
Muscle pathology of antisynthetase syndrome according to antibody subtypes. Brain pathology (Zurich, Switzerland) (2023)
Satoshi Yamashita, Nozomu Tawara, Ziwei Zhang, Shunya Nakane, Kazuma Sugie, Naoki Suzuki, Ichizo Nishino, Masashi Aoki
Pathogenic role of anti-cN1A autoantibodies in sporadic inclusion body myositis. Journal of neurology, neurosurgery, and psychiatry (2023)
Yuji Fujita, Shigeko Kuwashima, Ryosuke Sakurai, Atsushi Suzuki, George Imataka, Hadzki Matsuda, Kazuyuki Ishida, Takashi Matsushita, Ichizo Nishino, Shigemi Yoshihara
Whole-body MRI revealed generalized subcutaneous oedema in a patient with juvenile dermatomyositis. Rheumatology advances in practice 7 (2) (2023)
Takeshi Yoshida, Hiroki Yamazaki, Yukako Nishimori, Naoko Takamatsu, Koji Fukushima, Yusuke Osaki, Yoshinori Taniguchi, Taiki Nozaki, Yoshitaka Kumon, Jemima Albayda, Ichizo Nishino, Yuishin Izumi
Correlation of muscle ultrasound with clinical and pathological findings in idiopathic inflammatory myopathies. Muscle & nerve (2023)
Masatsugu Saito, Akihiko Uchiyama, Jain Kim, Yukie Endo, Masahito Yasuda, Sho Aoki, Yoshio Ikeda, Ichizo Nishino, Sei-Ichiro Motegi
Case report of anti-survival motor neuron complex antibody-positive overlap syndrome of diffuse cutaneous systemic sclerosis and idiopathic inflammatory myopathies. The Journal of dermatology (2023)
Masatsugu Saito, Akihiko Uchiyama, Jain Kim, Yukie Endo, Masahito Yasuda, Sho Aoki, Yoshio Ikeda, Ichizo Nishino, Sei-Ichiro Motegi
Case report of anti-survival motor neuron complex antibody-positive overlap syndrome of diffuse cutaneous systemic sclerosis and idiopathic inflammatory myopathies. The Journal of dermatology 51 (6) (2023)
Marianela Schiava, Chiseko Ikenaga, Ana Topf, Marta Caballero-Ávila, Tsui-Fen Chou, Shan Li, Feng Wang, Jil Daw, Kristl G Claeys, Rocio Villar-Quiles, Ichizo Nishino, Michio Inoue, Yukako Nishimori, Yoshihiko Saito, Masahisa Katsuno, Seiya Noda, Chihiro Ito, Mieko Otsuka, Sruthi Nahir, Georgios Manousakis, David Walk, Colin C Quinn, Lindsay Alfano, Zarife Sahenk, Giorgio Tasca, Mauro Monforte, Mario Sabatelli, Giulia Bisogni, Anders Oldfors, Anna Rydelius, Endre Pál, Carmen Paradas, Beatriz Velez, Jan L De Bleecker, Maria Elena Farugia, Cheryl Longman, Matthew B Harms, Stuart H Ralston, Edmar Zanoteli, Andre Macedo Serafim da Silva, Javier Sotoca, Raul Juntas-Morales, Jorge A Bevilacqua, Mireya Balart, Stuart Talbot, Volker Straub, Michela Guglieri, Chiara Marini-Bettolo, Jordi Diaz-Manera, Conrad Chris Weihl
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy. Neurology. Genetics 9 (5) (2023)
Satoshi Yamashita, Akihito Nagatoshi, Yosuke Takeuchi, Ichizo Nishino, Mitsuharu Ueda
Myopathic changes caused by protein aggregates in adult-onset spinal muscular atrophy. Neuropathology : official journal of the Japanese Society of Neuropathology (2023)
Yuji Maruo, Yoshihiko Saito, Ichizo Nishino, Atsuhito Takeda
Successful treatment of frequent premature ventricular contractions and non-sustained ventricular tachycardia with verapamil and flecainide in RYR1 -related myopathy: a case report. European heart journal. Case reports 7 (10) (2023)
Shotaro Haji, Ryosuke Miyamoto, Hiroyuki Morino, Yusuke Osaki, Seijiro Tsuji, Ichizo Nishino, Masahiro Abe, Yuishin Izumi
Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report. Neurology. Genetics 9 (3) (2023)
Nobuyuki Eura, Satoru Noguchi, Masashi Ogasawara, Theerawat Kumutpongpanich, Shinichiro Hayashi, Ichizo Nishino, null null
Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy. Journal of neurology (2023)
Yoshihiko Saito, Kimitoshi Nakamura, Tokiko Fukuda, Hideo Sugie, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino
Muscle biochemical and pathological diagnosis in Pompe disease. Journal of neurology, neurosurgery, and psychiatry (2022)
Maya Ishiguro, Yuji Nagatomo, Kanki Inoue, Tsutomu Yoshikawa, Saeko Yoshizawa, Yasushi Oya, Ichizo Nishino, Mitsuaki Isobe
Sick sinus syndrome concomitant with myopathy associated with anti-mitochondrial antibodies: a case report. European heart journal. Case reports 7 (6) (2022)
Marianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, Marta Caballero-Ávila, Ana Topf, Ichizo Nishino, Virginia Kimonis, Bjarne Udd, Benedikt Schoser, Edmar Zanoteli, Paulo Victor Sgobbi de Souza, Giorgio Tasca, Thomas Lloyd, Adolfo Lopez-de Munain, Carmen Paradas, Elena Pegoraro, Aleksandra Nadaj-Pakleza, Jan De Bleecker, Umesh Badrising, Alicia Alonso-Jiménez, Anna Kostera-Pruszczyk, Francesc Miralles, Jin-Hong Shin, Jorge Alfredo Bevilacqua, Montse Olivé, Matthias Vorgerd, Rudi Kley, Stefen Brady, Timothy Williams, Cristina Domínguez-González, George K Papadimas, Jodi Warman-Chardon, Kristl G Claeys, Marianne de Visser, Nuria Muelas, Pascal LaForet, Edoardo Malfatti, Lindsay N Alfano, Sruthi S Nair, Georgios Manousakis, Hani A Kushlaf, Matthew B Harms, Christopher Nance, Alba Ramos-Fransi, Carmelo Rodolico, Channa Hewamadduma, Hakan Cetin, Jorge García-García, Endre Pál, Maria Elena Farrugia, Phillipa J Lamont, Colin Quinn, Velina Nedkova-Hristova, Stojan Peric, Su-Shan Luo, Anders Oldfors, Kate Taylor, Stuart Ralston, Tanya Stojkovic, Conrad C Weihl, Jordi Díaz-Manera, null null, null null
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. Journal of neurology, neurosurgery, and psychiatry (2022)
Kotaro Oyama, Vadim E Zeeb, Toshiko Yamazawa, Nagomi Kurebayashi, Fuyu Kobirumaki-Shimozawa, Takashi Murayama, Hideto Oyamada, Satoru Noguchi, Takayoshi Inoue, Yukiko U Inoue, Ichizo Nishino, Yoshie Harada, Norio Fukuda, Shin'ichi Ishiwata, Madoka Suzuki
Heat-hypersensitive mutants of ryanodine receptor type 1 revealed by microscopic heating. Proceedings of the National Academy of Sciences of the United States of America 119 (32) (2022)
Mariko Mouri, Toru Kanamori, Eriko Tanaka, Kanako Hiratoko, Mariko Okubo, Michio Inoue, Tomohiro Morio, Masaki Shimizu, Ichizo Nishino, Hanako Koguchi-Yoshioka, Masaaki Mori
Hepatic veno-occlusive disease accompanied by thrombotic microangiopathy developing during treatment of juvenile dermatomyositis and macrophage activation syndrome: A case report. Modern rheumatology case reports (2022)
Hirokuni Yamazawa, Atsuhito Takeda, Gaku Izumi, Hirofumi Komaki, Ichizo Nishino
Sudden cardiac death prevention in an Emery-Dreifuss muscular dystrophy patient. Pediatrics international : official journal of the Japan Pediatric Society 64 (1) (2022)
Yoshitaka Tsuboi, Kotaro Oyama, Fuyu Kobirumaki-Shimozawa, Takashi Murayama, Nagomi Kurebayashi, Toshiaki Tachibana, Yoshinobu Manome, Emi Kikuchi, Satoru Noguchi, Takayoshi Inoue, Yukiko U Inoue, Ichizo Nishino, Shuichi Mori, Ryosuke Ishida, Hiroyuki Kagechika, Madoka Suzuki, Norio Fukuda, Toshiko Yamazawa
Mice with R2509C-RYR1 mutation exhibit dysfunctional Ca2+ dynamics in primary skeletal myocytes. The Journal of general physiology 154 (11) (2022)
Masashi Ogasawara, Ichizo Nishino
A review of major causative genes in congenital myopathies. Journal of human genetics (2022)
Madoka Mori-Yoshimura, Hiroyuki Yajima, Yasushi Oya, Katsuhiro Mizuno, Satoru Noguchi, Ichizo Nishino, Yuji Takahashi
Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study. BMJ neurology open 4 (2) (2022)
Ayumi Matsumoto, Hidetoshi Tsuda, Sadahiro Furui, Masako Kawada-Nagashima, Tatsuya Anzai, Mitsuru Seki, Kazuhisa Watanabe, Kazuhiro Muramatsu, Hitoshi Osaka, Sadahiko Iwamoto, Ichizo Nishino, Takanori Yamagata
A case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation. Molecular genetics & genomic medicine 10 (9) (2022)
Takashi Kurashige, Hiroyuki Morino, Hiroki Ueno, Tomomi Murao, Tomoaki Watanabe, Takao Hinoi, Ichizo Nishino, Tsuyoshi Torii, Hirofumi Maruyama
Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients. Journal of human genetics (2022)
Masashi Ogasawara, Nobuyuki Eura, Aritoshi Iida, Theerawat Kumutpongpanich, Narihiro Minami, Ikuya Nonaka, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino
Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy. Acta neuropathologica communications 10 (1) (2022)
Toshiyuki Kobayashi, Taiji Nakano, Hitoshi Ogata, Noriko Sato, Fumiya Yamaide, Yoshiharu Yamashita, Koji Chikaraishi, Moeko Hino, Ichizo Nishino, Yuki Ichimura, Hanako Koguchi-Yoshioka, Hiromichi Hamada
A 10-year-old girl with low-grade B cell lymphoma complicated by anti-nuclear matrix protein 2 autoantibody-positive juvenile dermatomyositis. Rheumatology (Oxford, England) 61 (6) (2022)
Hidehito Kondo, Yukiko Tsuji, Tomoko Lee, Yoshihiko Saito, Ichizo Nishino
Severe congenital myasthenic syndrome with novel variants in the CHRND gene. Pediatrics international : official journal of the Japan Pediatric Society 64 (1) (2022)
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R Hammans, A Reghan Foley, Charlotte M Fare, Alice F Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G O'Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T Zaharieva, Lauren Brady, Ying Hu, Thomas E Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E French, Andriy Shatillo, F Lucy Raymond, Tobias B Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A Tarnopolsky, James Shorter, Carsten G Bonnemann, J Paul Taylor
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nature communications 13 (1) (2022)
Yuko Ohnuki, Shigeaki Suzuki, Akinori Uruha, Munenori Oyama, Shingo Suzuki, Jerzy K Kulski, Ichizo Nishino, Takashi Shiina
Association of immune-mediated necrotizing myopathy with HLA polymorphisms. HLA (2022)
Kaori Miyana, Akihiko Ishiyama, Yoshihiko Saito, Ichizo Nishino
Tulobuterol is a potential therapeutic drug in congenital myasthenic syndrome. Pediatrics international : official journal of the Japan Pediatric Society 64 (1) (2022)
Mainak Bardhan, Kiran Polavarapu, Nandeesh N Bevinahalli, Preethish-Kumar Veeramani, Ram Murthy Anjanappa, Gautham Arunachal, Leena Shingavi, Seena Vengalil, Saraswati Nashi, Tanushree Chawla, Divya Nagabushana, Dhaarini Mohan, Rita Horvath, Ichizo Nishino, Nalini Atchayaram
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. Journal of human genetics 66 (8) (2021)
Toshiko Yamazawa, Takuya Kobayashi, Nagomi Kurebayashi, Masato Konishi, Satoru Noguchi, Takayoshi Inoue, Yukiko U Inoue, Ichizo Nishino, Shuichi Mori, Hiroto Iinuma, Noriaki Manaka, Hiroyuki Kagechika, Arkady Uryash, Jose Adams, Jose R Lopez, Xiaochen Liu, Christine Diggle, Paul D Allen, Sho Kakizawa, Keigo Ikeda, Bangzhong Lin, Yui Ikemi, Kazuto Nunomura, Shinsaku Nakagawa, Takashi Sakurai, Takashi Murayama
A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke. Nature communications 12 (1) (2021)
Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, Makiko Tsutsumi, Francesca Bianco, Christian Bergamini, Farid Ullah, Federica Isidori, Irene Liparulo, Chiara Diquigiovanni, Luca Masin, Nicola Rizzardi, Mariapia Giuditta Cratere, Elisa Boschetti, Valentina Papa, Alessandra Maresca, Giovanna Cenacchi, Rita Casadio, Pierluigi Martelli, Ivana Matera, Isabella Ceccherini, Romana Fato, Giuseppe Raiola, Serena Arrigo, Sara Signa, Angela Rita Sementa, Mariasavina Severino, Pasquale Striano, Chiara Fiorillo, Tsuyoshi Goto, Shumpei Uchino, Yoshinobu Oyazato, Hisayoshi Nakamura, Sushil K Mishra, Yu-Sheng Yeh, Takema Kato, Kandai Nozu, Jantima Tanboon, Ichiro Morioka, Ichizo Nishino, Pei-Chieng Cha, Yu-Ichi Goto, Akira Ohtake, Kenjiro Kosaki, Yoshiki Yamaguchi, Ikuya Nonaka, Kazumoto Iijima, Masakazu Mimaki, Hiroki Kurahashi, Anja Raams, Alyson MacInnes, Mariel Alders, Marc Engelen, Gabor Linthorst, Tom de Koning, Wilfred den Dunnen, Gerard Dijkstra, Karin van Spaendonck, Dik C van Gent, Eleonora M Aronica, Paolo Picco, Valerio Carelli, Marco Seri, Nicholas Katsanis, Floor A M Duijkers, Mariko Taniguchi-Ikeda, Roberto De Giorgio
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain : a journal of neurology 144 (5) (2021)
Anthony A Amato, Michael G Hanna, Pedro M Machado, Umesh A Badrising, Gabriela Arredondo Hector Chinoy, Olivier Benveniste, Ananda Krishna Karanam, Min Wu, László B Tankó, Agnes Annette Schubert-Tennigkeit, Dimitris A Papanicolaou, Thomas E Lloyd, Merrilee Needham, Christina Liang, Katrina A Reardon, Marianne de Visser, Dana P Ascherman, Richard J Barohn, Mazen M Dimachkie, James A L Miller, John T Kissel, Björn E Oskarsson, Nanette C Joyce, Peter Van den Bergh, Jonathan Baets, Jan L De Bleecker, Chafic Karam, William S David, Massimiliano Mirabella, Sharon P Nations, Hans H Jung, Elena Pegoraro, Lorenzo Maggi, Carmelo Rodolico, Massimiliano Filosto, Aziz I Shaibani, Kumaraswamy Sivakumar, Namita A Goyal, Madoka Mori-Yoshimura, Satoshi Yamashita, Naoki Suzuki, Masashi Aoki, Masahisa Katsuno, Hirokazu Morihata, Kenya Murata, Hiroyuki Nodera, Ichizo Nishino, Carla D Romano, Valerie S L Williams, John Vissing, Lixin Zhang Auberson, null null
Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-term Extension of RESILIENT. Neurology 96 (12) (2021)
Aya Inoue-Shibui, Tetsuya Niihori, Michio Kobayashi, Naoki Suzuki, Rumiko Izumi, Hitoshi Warita, Kenju Hara, Matsuyuki Shirota, Ryo Funayama, Keiko Nakayama, Ichizo Nishino, Masashi Aoki, Yoko Aoki
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy. Journal of human genetics 66 (10) (2021)
Yukako Nishimori, Aritoshi Iida, Masashi Ogasawara, Mariko Okubo, Yuki Yonenobu, Makoto Kinoshita, Kazuma Sugie, Satoru Noguchi, Ichizo Nishino
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis. Neurology. Genetics 8 (1) (2021)
Yoshinori Kabeya, Mariko Okubo, Sho Yonezawa, Hiroki Nakano, Michio Inoue, Masashi Ogasawara, Yoshihiko Saito, Jantima Tanboon, Luh Ari Indrawati, Theerawat Kumutpongpanich, Yen-Lin Chen, Wakako Yoshioka, Shinichiro Hayashi, Toshiya Iwamori, Yusuke Takeuchi, Reitaro Tokumasu, Atsushi Takano, Fumihiko Matsuda, Ichizo Nishino
Deep convolutional neural network-based algorithm for muscle biopsy diagnosis. Laboratory investigation; a journal of technical methods and pathology (2021)
Jantima Tanboon, Michio Inoue, Yoshihiko Saito, Hisateru Tachimori, Shinichiro Hayashi, Satoru Noguchi, Hanako Koguchi-Yoshioka, Manabu Fujimoto, Ichizo Nishino
Dermatomyositis: Muscle Pathology According to Antibody Subtypes. Neurology (2021)
Madoka Mori-Yoshimura, Ayano Kimura, Ayumi Tsuru, Hiroyuki Yajima, Kazuhiko Segawa, Katsuhiro Mizuno, Yasushi Oya, Satoru Noguchi, Ichizo Nishino, Yuji Takahashi
Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients. Muscle & nerve (2021)
Toshihiro Matsukawa, Katsuki Eguchi, Ichizo Nishino, Kohei Okada, Kazuo Oshimi, Takuto Miyagishima
Light-chain amyloid myopathy isolated to skeletal muscles: A case report. Clinical case reports 8 (12) (2020)
Ryouhei Komaki, Yasumasa Hashimoto, Madoka Mori-Yoshimura, Yasushi Oya, Hotake Takizawa, Narihiro Minami, Ichizo Nishino, Yoshitsugu Aoki, Yuji Takahashi
Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report. Journal of human genetics 65 (10) (2020)
Jantima Tanboon, Ichizo Nishino
COVID-19-associated myositis may be dermatomyositis. Muscle & nerve 63 (1) (2020)
Tetsuya Okazaki, Kaori Matsuura, Noriko Kasagi, Kaori Adachi, Masachika Kai, Mariko Okubo, Ichizo Nishino, Eiji Nanba, Yoshihiro Maegaki
Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants. Human genome variation 7 (2020)
Kohei Hamanaka, Darina Šikrová, Satomi Mitsuhashi, Hiroki Masuda, Yukari Sekiguchi, Atsuhiko Sugiyama, Kazumoto Shibuya, Richard J L F Lemmers, Remko Goossens, Megumu Ogawa, Koji Nagao, Chikashi Obuse, Satoru Noguchi, Yukiko K Hayashi, Satoshi Kuwabara, Judit Balog, Ichizo Nishino, Silvère M van der Maarel
Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology 94 (23) (2020)
Yuichi Hayashi, Yasushi Iwasaki, Nobuaki Yoshikura, Megumi Yamada, Akio Kimura, Takashi Inuzuka, Hiroaki Miyahara, Yuichi Goto, Ichizo Nishino, Mari Yoshida, Takayoshi Shimohata
Clinicopathological findings of a mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes/Leigh syndrome overlap patient with a novel m.3482A>G mutation in MT-ND1. Neuropathology : official journal of the Japanese Society of Neuropathology 41 (1) (2020)
Masashi Ogasawara, Aritoshi Iida, Theerawat Kumutpongpanich, Ayami Ozaki, Yasushi Oya, Hirofumi Konishi, Akinori Nakamura, Ryuta Abe, Hiroshi Takai, Ritsuko Hanajima, Hiroshi Doi, Fumiaki Tanaka, Hisayoshi Nakamura, Ikuya Nonaka, Zhaoxia Wang, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations. Acta neuropathologica communications 8 (1) (2020)
Kanako Kano, Gaku Yamanaka, Kazuhiro Muramatsu, Shinichiro Morichi, Yu Ishida, Tomoko Takamatsu, Shinji Suzuki, Tasuku Miyajima, Eiji Nakagawa, Ichizo Nishino, Hisashi Kawashima
Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review. American journal of medical genetics. Part A 185 (2) (2020)
Yoshihiko Saito, Atsuko Nishikawa, Aritoshi Iida, Madoka Mori-Yoshimura, Yasushi Oya, Akihiko Ishiyama, Hirofumi Komaki, Seigo Nakamura, Susumu Fujikawa, Takashi Kanda, Misaki Yamadera, Hiroshi Sakiyama, Shinichiro Hayashi, Ikuya Nonaka, Satoru Noguchi, Ichizo Nishino
ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features. Neurology 95 (11) (2020)
Jantima Tanboon, Michio Inoue, Shinya Hirakawa, Hisateru Tachimori, Shinichiro Hayashi, Satoru Noguchi, Shigeaki Suzuki, Hanako Koguchi-Yoshioka, Manabu Fujimoto, Ichizo Nishino
Pathologic Features of Anti-Mi-2 Dermatomyositis. Neurology 96 (3) (2020)
Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, Yuta Suzuki, Wei Qu, Koichiro Doi, M Asem Almansour, Junko Kanda Kikuchi, Makiko Taira, Jun Mitsui, Yuji Takahashi, Yaeko Ichikawa, Tatsuo Mano, Atsushi Iwata, Yasuo Harigaya, Miho Kawabe Matsukawa, Takashi Matsukawa, Masaki Tanaka, Yuichiro Shirota, Ryo Ohtomo, Hisatomo Kowa, Hidetoshi Date, Aki Mitsue, Hiroyuki Hatsuta, Satoru Morimoto, Shigeo Murayama, Yasushi Shiio, Yuko Saito, Akihiko Mitsutake, Mizuho Kawai, Takuya Sasaki, Yusuke Sugiyama, Masashi Hamada, Gaku Ohtomo, Yasuo Terao, Yoshihiko Nakazato, Akitoshi Takeda, Yoshio Sakiyama, Yumi Umeda-Kameyama, Jun Shinmi, Katsuhisa Ogata, Yutaka Kohno, Shen-Yang Lim, Ai Huey Tan, Jun Shimizu, Jun Goto, Ichizo Nishino, Tatsushi Toda, Shinichi Morishita, Shoji Tsuji
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nature genetics 51 (8) (2019)
Atsuko Nishikawa, Aritoshi Iida, Shinichiro Hayashi, Mariko Okubo, Yasushi Oya, Gaku Yamanaka, Ikuko Takahashi, Ikuya Nonaka, Satoru Noguchi, Ichizo Nishino
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. Molecular genetics & genomic medicine 7 (5) (2019)
Shumpei Uchino, Aritoshi Iida, Atsushi Sato, Keiko Ishikawa, Masakazu Mimaki, Ichizo Nishino, Yu-Ichi Goto
A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome. Human genome variation 6 (2019)
Sumio Minamiyama, Sakiho Ueda, Ran Nakashima, Hodaka Yamakado, Yusuke Sakato, Hirofumi Yamashita, Nobukatsu Sawamoto, Ryota Fujimoto, Ichizo Nishino, Makoto Urushitani, Tsuneyo Mimori, Ryosuke Takahashi
Thigh muscle MRI findings in myopathy associated with anti-mitochondrial antibody. Muscle & nerve 61 (1) (2019)
Hideki Shimomura, Tomoko Lee, Yasuhiko Tanaka, Hiroyuki Awano, Kyoko Itoh, Ichizo Nishino, Yasuhiro Takeshima
Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy. Human genome variation 6 (2019)
Takahiro Shimizu, Yuko Kondo, Naomi Kanazawa, Atsushi Kaneko, Naomi Tominaga, Makiko Nagai, Takahiro Iizuka, Ichizo Nishino, Kazutoshi Nishiyama
Anti-HMGCR myopathy following acute Epstein-Barr virus infection. Muscle & nerve 61 (1) (2019)
Yang Chen, Jianying Xi, Wenhua Zhu, Jie Lin, Sushan Luo, Dongyue Yue, Shuang Cai, Chong Sun, Chongbo Zhao, Satomi Mitsuhashi, Ichizo Nishino, Minjie Xu, Jiahong Lu
GNE myopathy in Chinese population: hotspot and novel mutations. Journal of human genetics 64 (1) (2018)
Michio Inoue, Aritoshi Iida, Shinichiro Hayashi, Madoka Mori-Yoshimura, Atsushi Nagaoka, Shunsuke Yoshimura, Hirokazu Shiraishi, Akira Tsujino, Yuji Takahashi, Ikuya Nonaka, Yukiko K Hayashi, Satoru Noguchi, Ichizo Nishino
Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy. Human genome variation 5 (2018)
Petcharat Leoyklang, Bradley Class, Satoru Noguchi, William A Gahl, Nuria Carrillo, Ichizo Nishino, Marjan Huizing, May Christine Malicdan
Quantification of lectin fluorescence in GNE myopathy muscle biopsies. Muscle & nerve 58 (2) (2018)
Akihiko Ishiyama, Aritoshi Iida, Shinichiro Hayashi, Hirofumi Komaki, Masayuki Sasaki, Ikuya Nonaka, Satoru Noguchi, Ichizo Nishino
A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy. Human genome variation 5 (2018)
Huan T Nguyen, Satoru Noguchi, Kazuma Sugie, Yoshiyuki Matsuo, Chuyen T H Nguyen, Hitoshi Koito, Ichiro Shiojima, Ichizo Nishino, Hiroyasu Tsukaguchi
Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency. Scientific reports 8 (1) (2018)
Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Scientific reports 7 (1) (2017)
Ikuo Tomioka, Hidetoshi Ishibashi, Eiko N Minakawa, Hideyuki H Motohashi, Osamu Takayama, Yuko Saito, H Akiko Popiel, Sandra Puentes, Kensuke Owari, Terumi Nakatani, Naotake Nogami, Kazuhiro Yamamoto, Satoru Noguchi, Takahiro Yonekawa, Yoko Tanaka, Naoko Fujita, Hikaru Suzuki, Hisae Kikuchi, Shu Aizawa, Seiichi Nagano, Daisuke Yamada, Ichizo Nishino, Noritaka Ichinohe, Keiji Wada, Shinichi Kohsaka, Yoshitaka Nagai, Kazuhiko Seki
Transgenic Monkey Model of the Polyglutamine Diseases Recapitulating Progressive Neurological Symptoms. eNeuro 4 (2) (2017)
Mariko Okubo, Kanako Goto, Hirofumi Komaki, Harumasa Nakamura, Madoka Mori-Yoshimura, Yukiko K Hayashi, Satomi Mitsuhashi, Satoru Noguchi, En Kimura, Ichizo Nishino
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. Orphanet journal of rare diseases 12 (1) (2017)
Mariko Okubo, Narihiro Minami, Kanako Goto, Yuichi Goto, Satoru Noguchi, Satomi Mitsuhashi, Ichizo Nishino
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. Journal of human genetics 61 (6) (2016)
Toshio Ikeda, Akihiko Nakahara, Rie Nagano, Maiko Utoyama, Megumi Obara, Hiroshi Moritake, Tamayo Uechi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Naoya Kenmochi, Shinichi Morishita, Ichizo Nishino, Shoji Tsuji, Hiroyuki Nunoi
TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy. Journal of human genetics 62 (4) (2016)
Yurika Watanabe, Akinori Uruha, Shigeaki Suzuki, Jin Nakahara, Kohei Hamanaka, Kazuko Takayama, Norihiro Suzuki, Ichizo Nishino
Clinical features and prognosis in anti-SRP and anti-HMGCR necrotising myopathy. Journal of neurology, neurosurgery, and psychiatry 87 (10) (2016)
Tetsuya Oda, Hui Xiong, Kazuhiro Kobayashi, Shuo Wang, Wataru Satake, Hui Jiao, Yanling Yang, Pei-Chieng Cha, Yukiko K Hayashi, Ichizo Nishino, Yutaka Suzuki, Sumio Sugano, Xiru Wu, Tatsushi Toda
A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy. Human genome variation 2 (2015)
Akinori Uruha, Yukiko K Hayashi, Yasushi Oya, Madoka Mori-Yoshimura, Masahiro Kanai, Miho Murata, Mayumi Kawamura, Katsuhisa Ogata, Tsuyoshi Matsumura, Shigeaki Suzuki, Yukako Takahashi, Takayuki Kondo, Takeshi Kawarabayashi, Yuko Ishii, Norito Kokubun, Satoshi Yokoi, Rei Yasuda, Jun-ichi Kira, Satomi Mitsuhashi, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. Journal of neurology, neurosurgery, and psychiatry 86 (5) (2014)

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Ichizo Nishino