Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

J. Sarparanta, Per Harald Jonson, Christelle Golzio, +18

Nature Genetics

Genome InstabilitySkeletal MuscleGeneticsMolecular BiologyDegenerative Disease +5

Welander distal myopathy is caused by a mutation in the RNA‐binding protein TIA1

Peter Hackman, J. Sarparanta, Sara Lehtinen, +10

Annals of Neurology

<i>MYH7</i> gene tail mutation causing myopathic profiles beyond Laing distal myopathy

Nuria Muelas, Peter Hackman, H. Luque, +9

Neurology

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Marco Savarese, Lorenzo Maggi, Anna Vihola, +38

JAMA Neurology

Genotype–phenotype correlations in recessive titinopathies

Marco Savarese, Anna Vihola, Emily C. Oates, +38

Genetics in Medicine

Genotype-phenotype AssociationGeneticsGenotype–phenotype CorrelationsGenetic VariationMedicine +1

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy

Karine Charton, J. Sarparanta, Anna Vihola, +7

Human Molecular Genetics

Molecular BiologyProtein GeneticsCellular PhysiologySkeletal MuscleProtease Calpain 3 +14

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus

Peter Hackman, Satu Sandell, J. Sarparanta, +7

Neuromuscular Disorders

Mendelian DisorderAutoimmune DiseaseGenetic DisorderMedicineGenetics +9

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Mridul Johari, J. Sarparanta, Anna Vihola, +23

Acta Neuropathologica

Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy

Anna Vihola, H. Luque, Marco Savarese, +10

Neuropathology and Applied Neurobiology

Spanish <i>MYH7</i> founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients

Nuria Muelas, Peter Hackman, H. Luque, +6

Clinical Genetics

GeneticsGenetic EpidemiologyDistal MyopathyPathologyDisease Gene Identification +15