Volker Straub (V Straub)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 57

Top Venues

Neurology

PloS one

Nature genetics

medRxiv : the preprint server for health sciences

Newcastle University

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

Affiliation History

Newcastle University

United Kingdom

Director :: John Walton Muscular Dystrophy Research Centre

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)
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)
Utkarsh J Dang, Jesse M Damsker, Michela Guglieri, Paula R Clemens, Seth J Perlman, Edward C Smith, Iain Horrocks, Richard S Finkel, Jean K Mah, Nicolas Deconinck, Nathalie M Goemans, Jana Haberlová, Volker Straub, Laurel Mengle-Gaw, Benjamin D Schwartz, Amy Harper, Perry B Shieh, Liesbeth De Waele, Diana Castro, Michele L Yang, Monique M Ryan, Craig M McDonald, Mar Tulinius, Richard I Webster, Hugh J Mcmillan, Nancy Kuntz, Vamshi K Rao, Giovanni Baranello, Stefan Spinty, Anne-Marie Childs, Annie M Sbrocchi, Kathryn A Selby, Migvis Monduy, Yoram Nevo, Juan Jesus Vilchez, Andres Nascimento-Osorio, Erik H Niks, Imelda J M De Groot, Marina Katsalouli, John N Van Den Anker, Leanne M Ward, Mika Leinonen, Andrea L D'Alessandro, Eric P Hoffman
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial. Neurology 102 (5) (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Alba Segarra-Casas, Vicente A Yépez, German Demidov, Steven Laurie, Anna Esteve-Codina, Julien Gagneur, Yolande Parkhurst, Robert Muni-Lofra, Elizabeth Harris, Chiara Marini-Bettolo, Volker Straub, Ana Töpf
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy. International journal of molecular sciences 25 (14) (2024)
Utkarsh J Dang, Jesse M Damsker, Michela Guglieri, Paula R Clemens, Seth J Perlman, Edward C Smith, Iain Horrocks, Richard S Finkel, Jean K Mah, Nicolas Deconinck, Nathalie M Goemans, Jana Haberlová, Volker Straub, Laurel Mengle-Gaw, Benjamin D Schwartz, Amy Harper, Perry B Shieh, Liesbeth De Waele, Diana Castro, Michele L Yang, Monique M Ryan, Craig M McDonald, Mar Tulinius, Richard I Webster, Hugh J Mcmillan, Nancy Kuntz, Vamshi K Rao, Giovanni Baranello, Stefan Spinty, Anne-Marie Childs, Annie M Sbrocchi, Kathryn A Selby, Migvis Monduy, Yoram Nevo, Juan Jesus Vilchez, Andres Nascimento-Osorio, Erik H Niks, Imelda J M De Groot, Marina Katsalouli, John N Van Den Anker, Leanne M Ward, Mika Leinonen, Andrea L D'Alessandro, Eric P Hoffman
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial. Neurology 102 (5) (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)
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Janneke M Weiss, Amber den Ouden, Simone van den Heuvel, Hilde Swinkels, Nick Zomer, Marloes Steehouwer, Luke O'Gorman, Galuh Astuti, Kornelia Neveling, Rebecca Schüle, Jishu Xu, Matthis Synofzik, Danique Beijer, Holger Hengel, Ludger Schöls, Kristl G Claeys, Jonathan Baets, Liedewei Van de Vondel, Alessandra Ferlini, Rita Selvatici, Heba Morsy, Marwa Saeed Abd Elmaksoud, Volker Straub, Juliane Müller, Veronica Pini, Luke Perry, Anna Sarkozy, Irina T Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horvath, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, null null, null null, null null, null null, Leslie Matalonga, Steven Laurie, Han G Brunner, Holm Graessner, Sergi Beltran, Stephan Ossowski, Lisenka E L M Vissers, Christian Gilissen, Alexander Hoischen
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing. medRxiv : the preprint server for health sciences (2024)
Alba Segarra-Casas, Vicente A Yépez, German Demidov, Steven Laurie, Anna Esteve-Codina, Julien Gagneur, Yolande Parkhurst, Robert Muni-Lofra, Elizabeth Harris, Chiara Marini-Bettolo, Volker Straub, Ana Töpf
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy. International journal of molecular sciences 25 (14) (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)
Francesco Muntoni, James E Signorovitch, Gautam Sajeev, Nicolae Done, Zhiwen Yao, Nathalie Goemans, Craig McDonald, Eugenio Mercuri, Erik H Niks, Brenda L Wong, Krista Vandenborne, Volker Straub, Imelda J M de Groot, Cuixia Tian, Adnan Manzur, Ibrahima Dieye, Henry Lane, Susan J Ward, Laurent Servais, null null, null null, null null, null null, null null
Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study. PloS one 19 (7) (2024)
Utkarsh J Dang, Jesse M Damsker, Michela Guglieri, Paula R Clemens, Seth J Perlman, Edward C Smith, Iain Horrocks, Richard S Finkel, Jean K Mah, Nicolas Deconinck, Nathalie M Goemans, Jana Haberlová, Volker Straub, Laurel Mengle-Gaw, Benjamin D Schwartz, Amy Harper, Perry B Shieh, Liesbeth De Waele, Diana Castro, Michele L Yang, Monique M Ryan, Craig M McDonald, Mar Tulinius, Richard I Webster, Hugh J Mcmillan, Nancy Kuntz, Vamshi K Rao, Giovanni Baranello, Stefan Spinty, Anne-Marie Childs, Annie M Sbrocchi, Kathryn A Selby, Migvis Monduy, Yoram Nevo, Juan Jesus Vilchez, Andres Nascimento-Osorio, Erik H Niks, Imelda J M De Groot, Marina Katsalouli, John N Van Den Anker, Leanne M Ward, Mika Leinonen, Andrea L D'Alessandro, Eric P Hoffman
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial. Neurology 102 (5) (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Carsten G Bonnemann, Sandra Donkervoort, Goknur Haliloglu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Topf, Volker Straub, Sander Pajusalu, Katrin Ounap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets. 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)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Chiara Folland, Stojan Z Peric, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Lusakowska, Rajanna Manoj, Atchayaram Nalini, Veronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G Bonnemann, Sandra Donkervoort, Goknur Haliloglu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Topf, Volker Straub, Sander Pajusalu, Katrin Ounap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Alba Segarra-Casas, Vicente A Yépez, German Demidov, Steven Laurie, Anna Esteve-Codina, Julien Gagneur, Yolande Parkhurst, Robert Muni-Lofra, Elizabeth Harris, Chiara Marini-Bettolo, Volker Straub, Ana Töpf
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy. International journal of molecular sciences 25 (14) (2024)
Utkarsh J Dang, Jesse M Damsker, Michela Guglieri, Paula R Clemens, Seth J Perlman, Edward C Smith, Iain Horrocks, Richard S Finkel, Jean K Mah, Nicolas Deconinck, Nathalie M Goemans, Jana Haberlová, Volker Straub, Laurel Mengle-Gaw, Benjamin D Schwartz, Amy Harper, Perry B Shieh, Liesbeth De Waele, Diana Castro, Michele L Yang, Monique M Ryan, Craig M McDonald, Mar Tulinius, Richard I Webster, Hugh J Mcmillan, Nancy Kuntz, Vamshi K Rao, Giovanni Baranello, Stefan Spinty, Anne-Marie Childs, Annie M Sbrocchi, Kathryn A Selby, Migvis Monduy, Yoram Nevo, Juan Jesus Vilchez, Andres Nascimento-Osorio, Erik H Niks, Imelda J M De Groot, Marina Katsalouli, John N Van Den Anker, Leanne M Ward, Mika Leinonen, Andrea L D'Alessandro, Eric P Hoffman
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial. Neurology 102 (5) (2024)
Francesco Muntoni, James E Signorovitch, Gautam Sajeev, Nicolae Done, Zhiwen Yao, Nathalie Goemans, Craig McDonald, Eugenio Mercuri, Erik H Niks, Brenda L Wong, Krista Vandenborne, Volker Straub, Imelda J M de Groot, Cuixia Tian, Adnan Manzur, Ibrahima Dieye, Henry Lane, Susan J Ward, Laurent Servais, null null, null null, null null, null null, null null
Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study. PloS one 19 (7) (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Chiara Folland, Stojan Z Peric, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Lusakowska, Rajanna Manoj, Atchayaram Nalini, Veronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Ozlem Herguner, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Francesco Muntoni, James E Signorovitch, Gautam Sajeev, Nicolae Done, Zhiwen Yao, Nathalie Goemans, Craig McDonald, Eugenio Mercuri, Erik H Niks, Brenda L Wong, Krista Vandenborne, Volker Straub, Imelda J M de Groot, Cuixia Tian, Adnan Manzur, Ibrahima Dieye, Henry Lane, Susan J Ward, Laurent Servais, null null, null null, null null, null null, null null
Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study. PloS one 19 (7) (2024)
Utkarsh J Dang, Jesse M Damsker, Michela Guglieri, Paula R Clemens, Seth J Perlman, Edward C Smith, Iain Horrocks, Richard S Finkel, Jean K Mah, Nicolas Deconinck, Nathalie M Goemans, Jana Haberlová, Volker Straub, Laurel Mengle-Gaw, Benjamin D Schwartz, Amy Harper, Perry B Shieh, Liesbeth De Waele, Diana Castro, Michele L Yang, Monique M Ryan, Craig M McDonald, Mar Tulinius, Richard I Webster, Hugh J Mcmillan, Nancy Kuntz, Vamshi K Rao, Giovanni Baranello, Stefan Spinty, Anne-Marie Childs, Annie M Sbrocchi, Kathryn A Selby, Migvis Monduy, Yoram Nevo, Juan Jesus Vilchez, Andres Nascimento-Osorio, Erik H Niks, Imelda J M De Groot, Marina Katsalouli, John N Van Den Anker, Leanne M Ward, Mika Leinonen, Andrea L D'Alessandro, Eric P Hoffman
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial. Neurology 102 (5) (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)
Utkarsh J Dang, Jesse M Damsker, Michela Guglieri, Paula R Clemens, Seth J Perlman, Edward C Smith, Iain Horrocks, Richard S Finkel, Jean K Mah, Nicolas Deconinck, Nathalie M Goemans, Jana Haberlová, Volker Straub, Laurel Mengle-Gaw, Benjamin D Schwartz, Amy Harper, Perry B Shieh, Liesbeth De Waele, Diana Castro, Michele L Yang, Monique M Ryan, Craig M McDonald, Mar Tulinius, Richard I Webster, Hugh J Mcmillan, Nancy Kuntz, Vamshi K Rao, Giovanni Baranello, Stefan Spinty, Anne-Marie Childs, Annie M Sbrocchi, Kathryn A Selby, Migvis Monduy, Yoram Nevo, Juan Jesus Vilchez, Andres Nascimento-Osorio, Erik H Niks, Imelda J M De Groot, Marina Katsalouli, John N Van Den Anker, Leanne M Ward, Mika Leinonen, Andrea L D'Alessandro, Eric P Hoffman
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial. Neurology 102 (5) (2024)
Utkarsh J Dang, Jesse M Damsker, Michela Guglieri, Paula R Clemens, Seth J Perlman, Edward C Smith, Iain Horrocks, Richard S Finkel, Jean K Mah, Nicolas Deconinck, Nathalie M Goemans, Jana Haberlová, Volker Straub, Laurel Mengle-Gaw, Benjamin D Schwartz, Amy Harper, Perry B Shieh, Liesbeth De Waele, Diana Castro, Michele L Yang, Monique M Ryan, Craig M McDonald, Mar Tulinius, Richard I Webster, Hugh J Mcmillan, Nancy Kuntz, Vamshi K Rao, Giovanni Baranello, Stefan Spinty, Anne-Marie Childs, Annie M Sbrocchi, Kathryn A Selby, Migvis Monduy, Yoram Nevo, Juan Jesus Vilchez, Andres Nascimento-Osorio, Erik H Niks, Imelda J M De Groot, Marina Katsalouli, John N Van Den Anker, Leanne M Ward, Mika Leinonen, Andrea L D'Alessandro, Eric P Hoffman
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial. Neurology 102 (5) (2024)
Robin Wijngaard, German Demidov, Luke O'Gorman, Jordi Corominas-Galbany, Burcu Yaldiz, Wouter Steyaert, Elke de Boer, Lisenka E L M Vissers, Erik-Jan Kamsteeg, Rolph Pfundt, Hilde Swinkels, Amber den Ouden, Iris B A W Te Paske, Richarda M de Voer, Laurence Faivre, Anne Sophie Denommé-Pichon, Yannis Duffourd, Antonio Vitobello, Martin Chevarin, Volker Straub, Ana Topf, Anneke J van der Kooi, Francesca Magrinelli, Clarissa Rocca, Michael G Hanna, Jana Vandrovcova, null null, Stephan Ossowski, Steven Laurie, Christian Gilissen
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples. European journal of human genetics : EJHG (2023)
Vandana Ayyar Gupta, Jacqueline M Pitchforth, Joana Domingos, Deborah Ridout, Mario Iodice, Catherine Rye, Mary Chesshyre, Amy Wolfe, Victoria Selby, Anna Mayhew, Elena S Mazzone, Valeria Ricotti, Jean-Yves Hogrel, Erik H Niks, Imelda de Groot, Laurent Servais, Volker Straub, Eugenio Mercuri, Adnan Y Manzur, Francesco Muntoni, null null
Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy. PloS one 18 (4) (2023)
Vandana Ayyar Gupta, Jacqueline M Pitchforth, Joana Domingos, Deborah Ridout, Mario Iodice, Catherine Rye, Mary Chesshyre, Amy Wolfe, Victoria Selby, Anna Mayhew, Elena S Mazzone, Valeria Ricotti, Jean-Yves Hogrel, Erik H Niks, Imelda de Groot, Laurent Servais, Volker Straub, Eugenio Mercuri, Adnan Y Manzur, Francesco Muntoni, null null
Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy. PloS one 18 (4) (2023)
Francesco Muntoni, James Signorovitch, Gautam Sajeev, Henry Lane, Madeline Jenkins, Ibrahima Dieye, Susan J Ward, Craig McDonald, Nathalie M Goemans, Erik H Niks, Brenda Wong, Laurent Servais, Volker Straub, Michela Guglieri, Imelda J M de Groot, Mary Chesshyre, Cuixia Tian, Adnan Y Manzur, Eugenio Mercuri, Annemieke Aartsma-Rus
DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials. Neurology (2023)
Mayowa Ojo Owolabi, Matilde Leonardi, Claudio Bassetti, Joke Jaarsma, Tadeusz Hawrot, Akintomiwa I Makanjuola, Rajinder K Dhamija, Wuwei Feng, Volker Straub, Jennifer Camaradou, David W Dodick, Rosita Sunna, Bindu Menon, Claire Wright, Chris Lynch, Antonella Santuccione Chadha, Maria Teresa Ferretti, Anna Dé, Coriene E Catsman-Berrevoets, Muthoni Gichu, Cristina Tassorelli, David J Oliver, Walter Paulus, Ramla K Mohammed, Augustina Charway Felli, Kevin Rostasy, Valery Feigin, Audrey Craven, Elizabeth Cunningham, Orla Galvin, Alexandra Heumber Perry, Ericka L Fink, Peer Baneke, Anne Helme, Joanna Laurson-Doube, Marco T Medina, Juan David Roa, Birgit Hogl, Allan O'Bryan, Claudia Trenkwalder, Jo Wilmshurst, Rufus Olusola Akinyemi, Joseph O Yaria, David C Good, Volker Hoemberg, Paul Boon, Samuel Wiebe, J Helen Cross, Magali Haas, Inez Jabalpurwala, Marijeta Mojasevic, Monica DiLuca, Paola Barbarino, Stephanie Clarke, Sameer M Zuberi, Paul Olowoyo, Ayomide Owolabi, Nelson Oyesiku, Pia C Maly-Sundgren, Bo Norrving, Surjo R Soekadar, Pieter A van Doorn, Richard Lewis, Tom Solomon, Franco Servadei
Global synergistic actions to improve brain health for human development. Nature reviews. Neurology (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)
Robert Muni-Lofra, Eduard Juanola-Mayos, Marianela Schiava, Dionne Moat, Maha Elseed, Jassi Michel-Sodhi, Elizabeth Harris, Michelle McCallum, Ursula Moore, Mark Richardson, Christina Trainor, Karen Wong, Monika Malinova, Carla Bolano-Diaz, Michael John Keogh, Elisabetta Ghimenton, Jose Verdu-Diaz, Anna Mayhew, Michela Guglieri, Volker Straub, Meredoith K James, Chiara Marini-Bettolo, Jordi Diaz-Manera
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories. Neurology. Genetics 9 (4) (2023)
Vandana Ayyar Gupta, Jacqueline M Pitchforth, Joana Domingos, Deborah Ridout, Mario Iodice, Catherine Rye, Mary Chesshyre, Amy Wolfe, Victoria Selby, Anna Mayhew, Elena S Mazzone, Valeria Ricotti, Jean-Yves Hogrel, Erik H Niks, Imelda de Groot, Laurent Servais, Volker Straub, Eugenio Mercuri, Adnan Y Manzur, Francesco Muntoni, null null
Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy. PloS one 18 (4) (2023)
Xavier Suárez-Calvet, Esther Fernández-Simón, Daniel Natera-de Benito, Cristina Jou, Patricia Pinol-Jurado, Elisa Villalobos, Carlos Ortez, Alexandra Monceau, Marianela Schiava, Anna Codina, Jose Verdu-Diaz, James Clark, Zoe Laidler, Priyanka Mehra, Rasya Gokul-Nath, Jorge Alonso-Perez, Chiara Marini-Bettolo, Giorgio Tasca, Volker Straub, Michela Guglieri, Andrés Nascimento, Jordi Díaz-Manera
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations. Cell death & disease 14 (9) (2023)
Vandana Ayyar Gupta, Jacqueline M Pitchforth, Joana Domingos, Deborah Ridout, Mario Iodice, Catherine Rye, Mary Chesshyre, Amy Wolfe, Victoria Selby, Anna Mayhew, Elena S Mazzone, Valeria Ricotti, Jean-Yves Hogrel, Erik H Niks, Imelda de Groot, Laurent Servais, Volker Straub, Eugenio Mercuri, Adnan Y Manzur, Francesco Muntoni, null null
Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy. PloS one 18 (4) (2023)
Robin Wijngaard, German Demidov, Luke O'Gorman, Jordi Corominas-Galbany, Burcu Yaldiz, Wouter Steyaert, Elke de Boer, Lisenka E L M Vissers, Erik-Jan Kamsteeg, Rolph Pfundt, Hilde Swinkels, Amber den Ouden, Iris B A W Te Paske, Richarda M de Voer, Laurence Faivre, Anne Sophie Denommé-Pichon, Yannis Duffourd, Antonio Vitobello, Martin Chevarin, Volker Straub, Ana Topf, Anneke J van der Kooi, Francesca Magrinelli, Clarissa Rocca, Michael G Hanna, Jana Vandrovcova, null null, Stephan Ossowski, Steven Laurie, Christian Gilissen
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples. European journal of human genetics : EJHG (2023)
Natalie F Reash, Meredoith K James, Lindsay N Alfano, Anna G Mayhew, Marni B Jacobs, Megan A Iammarino, Scott Holsten, Chikako Sakamoto, Takayuki Tateishi, Hiroyuki Yajima, Tina Duong, Brittney de Wolf, Richard Gee, Diana X Bharucha-Goebel, Elena Bravver, Madoka Mori-Yoshimura, Kate Bushby, Laura E Rufibach, Volker Straub, Linda P Lowes, null null
Comparison of strength testing modalities in dysferlinopathy. Muscle & nerve 66 (2) (2022)
Mazen M Dimachkie, Richard J Barohn, Barry Byrne, Ozlem Goker-Alpan, Priya S Kishnani, Shafeeq Ladha, Pascal Laforêt, Karl Eugen Mengel, Loren D M Peña, Sabrina Sacconi, Volker Straub, Jaya Trivedi, Philip Van Damme, Ans T van der Ploeg, John Vissing, Peter Young, Kristina An Haack, Meredith Foster, Jane M Gilbert, Patrick Miossec, Olivier Vitse, Tianyue Zhou, Benedikt Schoser, null null
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease. Neurology (2022)
Claire Louise Wood, Rob van 't Hof, Scott Dillon, Volker Straub, Sze C Wong, S Faisal Ahmed, Colin Farquharson
Combined growth hormone and insulin-like growth factor-1 rescues growth retardation in glucocorticoid-treated mdxmice but does not prevent osteopenia. The Journal of endocrinology 253 (2) (2022)
Ursula Moore, Roberto Fernandez-Torron, Marni B Jacobs, Heather Gordish-Dressman, Jordi Díaz-Manera, Meredoith K James, Anna G Mayhew, Elizabeth Harris, Michela Guglieri, Laura E Rufibach, Jia Feng, Andrew M Blamire, Pierre G Carlier, Simone Spuler, John W Day, Kristi J Jones, Diana X Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Linda Pax Lowes, Jerry R Mendell, Kate Bushby, null null, John Bourke, Volker Straub
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study. Muscle & nerve 65 (5) (2022)
Magdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, Solange Kapetanovic Garcia, Didem Ardicli, Haluk Topaloglu, Aurelio Hernández-Laín, Diclehan Orhan, Mehmet Alikasifoglu, Jennifer Duff, Sabine Specht, Kristen Nowak, Gianina Ravenscroft, Katherine Chao, Zaheer Valivullah, Sandra Donkervoort, Dimah Saade, Carsten Bönnemann, Volker Straub, Grace Yoon
FXR1 -related congenital myopathy: expansion of the clinical and genetic spectrum. Journal of medical genetics 59 (11) (2022)
Janina Sörmann, Marcus Schewe, Peter Proks, Thibault R H Jouen-Tachoire, Shanlin Rao, Elena Barbara Riel, Katherine E Agre, Amber Begtrup, John Dean, Maria Descartes, Jan Fischer, Alice Gardham, Carrie Lahner, Paul R Mark, Srikanth Muppidi, Pavel N Pichurin, Joseph Porrmann, Jens Schallner, Kirstin Smith, Volker Straub, Pradeep Vasudevan, Rebecca Willaert, Elisabeth P Carpenter, Karin E J Rödström, Michael G Hahn, Thomas Müller, Thomas Baukrowitz, Matthew E Hurles, Caroline Fiona Wright, Stephen J Tucker
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea. Nature genetics 54 (10) (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)
Anando Sen, Avril Palmeri, Joanne Lee, Victoria Hedley, Jacques Thuet, Perrine Lignon, Valerie Cotonnec, Rebecca Leary, Sinéad Nally, Volker Straub
Understanding paediatric data standards challenges through academia-industry partnerships: A conect4children (c4c) qualitative study. The International journal of health planning and management (2022)
Giorgia Coratti, Marika Pane, Claudia Brogna, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gian Luca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Previtali Stefano Carlo, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Jean Yves Hogrel, Volker Straub, Silvana De Lucia, Erik H Niks, Laurent Servais, Imelda De Groot, Mary Chesshyre, Enrico Bertini, Nathalie M Goemans, Francesco Muntoni, Eugenio Mercuri, null null
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up. PloS one 16 (6) (2021)
Marni B Jacobs, Meredoith K James, Linda P Lowes, Lindsay N Alfano, Michelle Eagle, Robert Muni Lofra, Ursula Moore, Jia Feng, Laura E Rufibach, Kristy Rose, Tina Duong, Luca Bello, Irene Pedrosa-Hernández, Scott Holsten, Chikako Sakamoto, Aurélie Canal, Nieves Sanchez-Aguilera Práxedes, Simone Thiele, Catherine Siener, Bruno Vandevelde, Brittney DeWolf, Elke Maron, Michela Guglieri, Jean-Yves Hogrel, Andrew M Blamire, Pierre G Carlier, Simone Spuler, John W Day, Kristi J Jones, Diana X Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Jordi Díaz-Manera, Elena Pegoraro, Jerry R Mendell, null null, Anna G Mayhew, Volker Straub
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale. Annals of neurology 89 (5) (2021)
Payam Mohassel, Sandra Donkervoort, Museer A Lone, Matthew Nalls, Kenneth Gable, Sita D Gupta, A Reghan Foley, Ying Hu, Jonas Alex Morales Saute, Ana Lucila Moreira, Fernando Kok, Alessandro Introna, Giancarlo Logroscino, Christopher Grunseich, Alec R Nickolls, Naemeh Pourshafie, Sarah B Neuhaus, Dimah Saade, Andrea Gangfuß, Heike Kölbel, Zoe Piccus, Claire E Le Pichon, Chiara Fiorillo, Cindy V Ly, Ana Töpf, Lauren Brady, Sabine Specht, Aliza Zidell, Helio Pedro, Eric Mittelmann, Florian Patrick Thomas, Katherine R Chao, Chamindra G Konersman, Megan T Cho, Tracy Brandt, Volker Straub, Anne M Connolly, Ulrike Schara, Andreas Roos, Mark Tarnopolsky, Ahmet Hoke, Robert H Brown, Chia-Hsueh Lee, Thorsten Hornemann, Teresa M Dunn, Carsten G Bonnemann
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Nature medicine 27 (7) (2021)
Nathalie Doorenweerd, Mischa de Rover, Chiara Marini-Bettolo, Kieren G Hollingsworth, Erik H Niks, Jos G M Hendriksen, Hermien E Kan, Volker Straub
Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patients. Brain imaging and behavior 15 (5) (2021)
Paola Porcari, Matt G Hall, Christopher A Clark, Elizabeth Greally, Volker Straub, Andrew M Blamire
Time-dependent diffusion MRI as a probe of microstructural changes in a mouse model of Duchenne muscular dystrophy. NMR in biomedicine 33 (5) (2020)
Jean-Yves Hogrel, Valérie Decostre, Isabelle Ledoux, Marie de Antonio, Erik H Niks, Imelda J M de Groot, Volker Straub, Francesco Muntoni, Valeria Ricotti, Thomas Voit, Andreea Seferian, Laurent Servais, Laurent Servais
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy. Journal of neurology 267 (7) (2020)
Giulia Giacomucci, Mauro Monforte, Jordi Díaz-Manera, Karlien Mul, Roberto Fernández-Torrón, L Maggi, C Marini Bettolo, Julia Rebecka Dahlqvist, J Haberlova, Pilar Camaño, M Gros, Tommaso Tartaglione, L Cristiano, Simonetta Gerevini, P Calandra, G Deidda, Emiliano Giardina, Sabrina Sacconi, Volker Straub, John Vissing, Baziel G M van Engelen, Enzo Ricci, Giorgio Tasca
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging. European journal of neurology 27 (12) (2020)
Lena-Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Florence Petit, Thomas Smol, Levinus Bok, Lance Rodan, Ingrid Krapels, Stephanie Spranger, Bernhard Weschke, Katherine Johnson, Volker Straub, Angela M Kaindl, Nataliya Di Donato, Maja von der Hagen, Sebahattin Cirak
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. Journal of human genetics 65 (11) (2020)
Mirko Signorelli, Burcu Ayoglu, Camilla Johansson, Hanns Lochmüller, Volker Straub, Francesco Muntoni, Erik H Niks, Roula Tsonaka, Anja Persson, Annemieke M Aartsma-Rus, Peter Nilsson, Cristina Al-Khalili Szigyarto, Pietro Spitali
Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy. Journal of cachexia, sarcopenia and muscle 11 (2) (2019)
Alexander Peter Murphy, Jasper Morrow, Julia Rebecka Dahlqvist, Tanya Stojkovic, Tracey A Willis, Christopher D J Sinclair, Stephen Wastling, Tarek Yousry, Michael G Hanna, Meredith K James, Anna G Mayhew, Michelle Eagle, Laurence E Lee, Jean-Yves Hogrel, Pierre G Carlier, John S Thornton, John Vissing, Kieren G Hollingsworth, Volker Straub
Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints. Annals of clinical and translational neurology 6 (6) (2019)
Paola Porcari, Matt G Hall, Christopher A Clark, Elizabeth Greally, Volker Straub, Andrew M Blamire
The effects of ageing on mouse muscle microstructure: a comparative study of time-dependent diffusion MRI and histological assessment. NMR in biomedicine 31 (3) (2018)
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O'Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan D Gonorazky, Kristl Claeys, Himanshu Joshi, Adam M Bournazos, Emily C Oates, Roula Ghaoui, Mark R Davis, Nigel G Laing, Ana Topf, null null, Peter B Kang, Alan H Beggs, Kathryn N North, Volker Straub, James J Dowling, Francesco Muntoni, Nigel F Clarke, Sandra T Cooper, Carsten G Bonnemann, Daniel G MacArthur
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science translational medicine 9 (386) (2017)

Volker Straub.css-eqlu8i{font-size:small;padding-left:4px;} (V Straub)

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Volker Straub (V Straub)