Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

Ching H. Wang, Carsten G. Bönnemann, A. Rutkowski, +37

Journal of Child Neurology

Family MedicineRare DiseasesMedicineCare CommitteeCongenital Muscular Dystrophies +7

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

Katja Grohmann, Raymonda Varon, Piroschka Stolz, +22

Annals of Neurology

Muscular dystrophy due to dysferlin deficiency in Libyan Jews

Zohar Argov, Menachem Sadeh, Kineret Mazor, +10

Brain

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

Zagaa Odgerel, Anna Sárközy, Hee-Suk Lee, +9

Neuromuscular Disorders

BiologyMendelian DisorderGenetic DisorderGeneticsBag3 Mutation +8

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

Montse Olivé, Zagaa Odgerel, Christine Stadelmann, +17

European Journal of Human Genetics

MedicineImmunologyPathologyFilamin CSeventh Immunoglobulin-like Repeat +1

The Third Human FER-1-like Protein Is Highly Similar to Dysferlin

S. Britton, Tom C. Freeman, Elizabeth Vafiadaki, +4

Genomics

Protein ChemistryProtein FunctionBiochemistryProtein FoldingNatural Sciences +6

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

Katharine Forrest, Safa Al‐Sarraj, C. Sewry, +14

Neuromuscular Disorders

Neuromuscular DisordersPediatricsCryab MutationsGenetic Disorder

Genetic and Physical Mapping at the Limb-Girdle Muscular Dystrophy Locus (LGMD2B) on Chromosome 2p

Rumaisa Bashir, Sharon Keers, Tom Strachan, +6

Genomics

Developmental BiologyGenetic DisorderGeneticsPhysical MappingMolecular Genetics +3

Survey of behaviour problems in children with neuromuscular diseases

Joanne Darke, Kate Bushby, Ann Le Couteur, +1

European Journal of Paediatric Neurology

Social SkillsPediatricsEducationBehaviour ProblemsBehavioral Issue +3

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13

Louis Viollet, A Barois, Jean G. Rebeiz, +14

Annals of Neurology