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Journal of Neurology, Neurosurgery, and Psychiatry
|
September 11, 2017
MRI in sarcoglycanopathies: a large international cohort study
Giorgio Tasca, Mauro Monforte, Jordi Díaz-Manera, et al.
American Journal of Human Genetics
|
July 3, 2018
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse
Mieke Wesdorp, Silvia Murillo-Cuesta, Theo Peters, et al.
Human Mutation
|
November 6, 2022
KBTBD13 is a novel cardiomyopathy gene
Josine M de Winter, Karlijn Bouman, Joshua Strom, et al.
Neuromuscular Disorders : NMD
|
August 18, 2021
1st FSHD European Trial Network workshop:Working towards trial readiness across Europe
N C Voermans, M Vriens-Munoz Bravo, G W Padberg, et al.
Journal of Medical Genetics
|
November 24, 2021
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, et al.
Nature Communications
|
January 12, 2021
Duration and key determinants of infectious virus shedding in hospitalized patients with coronavirus disease-2019 (COVID-19)
Jeroen J A van Kampen, David A M C van de Vijver, Pieter L A Fraaij, et al.
Annals of Clinical and Translational Neurology
|
December 31, 2025
Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Laura Costa-Comellas, Mauro Monforte, Angel Sanchez-Montañez, et al.
Journal of Neuromuscular Diseases
|
May 26, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
Dineke Westra, Meyke I Schouten, Bas C Stunnenberg, et al.
The Journal of Clinical Investigation
|
February 1, 2024
KBTBD13 is an actin-binding protein that modulates muscle kinetics
Josine M de Winter, Joery P Molenaar, Michaela Yuen, et al.
The Journal of Clinical Investigation
|
November 1, 2019
KBTBD13 is an actin-binding protein that modulates muscle kinetics
Josine M de Winter, Joery P Molenaar, Michaela Yuen, et al.
Page
of 35
Search research articles
Search
Showing results (331-340 of 344) with videos related to
Sort By:
Page
of 35
Journal of Neurology, Neurosurgery, and Psychiatry
|
September 11, 2017
MRI in sarcoglycanopathies: a large international cohort study
Giorgio Tasca, Mauro Monforte, Jordi Díaz-Manera, et al.
American Journal of Human Genetics
|
July 3, 2018
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse
Mieke Wesdorp, Silvia Murillo-Cuesta, Theo Peters, et al.
Human Mutation
|
November 6, 2022
KBTBD13 is a novel cardiomyopathy gene
Josine M de Winter, Karlijn Bouman, Joshua Strom, et al.
Neuromuscular Disorders : NMD
|
August 18, 2021
1st FSHD European Trial Network workshop:Working towards trial readiness across Europe
N C Voermans, M Vriens-Munoz Bravo, G W Padberg, et al.
Journal of Medical Genetics
|
November 24, 2021
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, et al.
Nature Communications
|
January 12, 2021
Duration and key determinants of infectious virus shedding in hospitalized patients with coronavirus disease-2019 (COVID-19)
Jeroen J A van Kampen, David A M C van de Vijver, Pieter L A Fraaij, et al.
Annals of Clinical and Translational Neurology
|
December 31, 2025
Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Laura Costa-Comellas, Mauro Monforte, Angel Sanchez-Montañez, et al.
Journal of Neuromuscular Diseases
|
May 26, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
Dineke Westra, Meyke I Schouten, Bas C Stunnenberg, et al.
The Journal of Clinical Investigation
|
February 1, 2024
KBTBD13 is an actin-binding protein that modulates muscle kinetics
Josine M de Winter, Joery P Molenaar, Michaela Yuen, et al.
The Journal of Clinical Investigation
|
November 1, 2019
KBTBD13 is an actin-binding protein that modulates muscle kinetics
Josine M de Winter, Joery P Molenaar, Michaela Yuen, et al.
Page
of 35