Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Michaela Yuen, Sarah A. Sandaradura, James J. Dowling, +54

Journal of Clinical Investigation

MechanobiologyThin FilamentsSystems BiologyDevelopmental BiologyEngineering +13

Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

Lucia Valente, Valeria Tiranti, Renè Massimiliano Marsano, +11

The American Journal of Human Genetics

Infantile EncephalopathyMitochondrial BiogenesisMitochondrial FunctionGenetic DisorderGenetics +5

Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression

Gaëlle Bruneteau, Thomas Simonet, Stéphanie Bauché, +18

Brain

A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

Edoardo Malfatti, Johann Böhm, Emmanuelle Lacène, +4

Journal of Neuromuscular Diseases

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Johann Böhm, Valérie Biancalana, Edoardo Malfatti, +21

Brain

Mitochondrial MyopathyChromatinDevelopmental AnomalyMendelian DisorderGenetic Disorder +11

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

Edoardo Malfatti, Vilma‐Lotta Lehtokari, Johann Böhm, +18

Acta Neuropathologica Communications

A new muscle glycogen storage disease associated with glycogenin‐1 deficiency

Edoardo Malfatti, Johanna Nilsson, Carola Hedberg‐Oldfors, +11

Annals of Neurology

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Jorge Alonso‐Pérez, Lidia González‐Quereda, Luca Bello, +55

Brain

Genetic EpidemiologyHuman PolymorphismPathologyLarge European CohortDisease Gene Identification +27

Mutation‐specific effects on thin filament length in thin filament myopathy

Josine M. de Winter, Barbara Joureau, Eun‐Jeong Lee, +20

Annals of Neurology

The clinical, histologic, and genotypic spectrum of <i>SEPN1</i> -related myopathy

Rocío N. Villar‐Quiles, Maja von der Hagen, Corinne Métay, +35

Neurology