Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau, +15

The American Journal of Human Genetics

Mitochondrial MyopathyMendelian DisorderClassical PhenotypeMultiminicore DiseaseGenetics +7

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

Catia Andreassi, Carla Angelozzi, Francesco Danilo Tiziano, +8

European Journal of Human Genetics

Muscle FunctionMolecular PhysiologySkeletal MusclePhysiologyDegenerative Disease +3

Reliability of the North Star Ambulatory Assessment in a multicentric setting

Elena Mazzone, Sonia Messina, Gessica Vasco, +33

Neuromuscular Disorders

ReliabilityQuality Of LifeReliability AnalysisEngineeringMeasurement +7

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

Eugenio Mercuri, Enrico Bertini, Sonia Messina, +22

Neurology

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Rachael M. Duff, Valerie S. Tay, Peter Hackman, +20

The American Journal of Human Genetics

MechanobiologyFilamin C CauseN-terminal Actin-binding DomainDistal MyopathyMolecular Biology +5

FACL4, a New Gene Encoding Long-Chain Acyl-CoA Synthetase 4, Is Deleted in a Family with Alport Syndrome, Elliptocytosis, and Mental Retardation

Monica Piccini, Francesca Vitelli, Mirella Bruttini, +7

Genomics

Daily salbutamol in young patients with SMA type II

Marika Pane, Susanna Staccioli, Sonia Messina, +11

Neuromuscular Disorders

MedicinePharmacotherapySide EffectSma Type Ii

Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy

Andrea Ognibene, Patrizia Sabatelli, Stefania Petrini, +7

Muscle & Nerve

Nuclear StructureNuclear LaminaMolecular BiologyCytoskeletonOrthopaedic Surgery +14

Prevalence of congenital muscular dystrophy in Italy

Alessandra Graziano, Flaviana Bianco, Adele D’Amico, +29

Neurology

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

Rosalba Carrozzo, Alessandra Tessa, Marta Elisa Vázquez-Memije, +10

Neurology

GeneticsNovel Mtdna MutationMolecular BiologyPathologyMolecular Genetics +15