Results 81 to 90 of about 1,422 (160)

A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies. [PDF]

Acta Myol
Barp A, Neri LM, Maggi L, Iascone M, Gualandi F.   +4 more
europepmc   +1 more source

Characterization of novel CASQ1 variants in two families with unusual phenotypic features. [PDF]

J Neurol
Laarne M, Jokela M, Zhao F, Huovinen S, Kornblum C, Reimann J, Johari M, Vihola A, Sarparanta J, Udd B, Hackman P, Lehtokari VL, Pelin K.   +12 more
europepmc   +1 more source

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age. [PDF]

Eur J Neurol
Bisciglia M, Severa G, Romero NB, Fardeau M, Rendu J, Stojkovic T, Laforêt P, Eymard B, Ferreiro A, Malfatti E, Béhin A.   +10 more
europepmc   +1 more source

Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractility. [PDF]

J Physiol
Laitila J, Lewis CTA, Hessel AL, Primiano G, Hernandez-Lain A, Fiorillo C, Lawlor MW, Ottenheijm CAC, Jungbluth H, Man KF, Fornili A, Ochala J.   +11 more
europepmc   +1 more source

Vacuolar myopathy associated with lambda light chain myeloma: a case report and review of the literature. [PDF]

BMC Musculoskelet Disord
de Berny Q, Salle V, Renard C, Merle PE, Guilain N, Choukroun G, Morel P, Fourdinier O.   +7 more
europepmc   +1 more source

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions. [PDF]

Eur J Hum Genet
Sagath L, Kiiski K, Naidu K, Patel K, Jonson PH, Laarne M, Djordjevic D, Yoon G, LaGroon A, Rogers C, Galindo MK, Scherer K, Kunstmann E, Koparir E, Ho D, Davis M, Joshi P, Zygmunt A, Orbach R, Donkervoort S, Bönnemann CG, Savarese M, Echaniz-Laguna A, Biancalana V, Genetti CA, Iannaccone ST, Beggs AH, Wallgren-Pettersson C, Henning F, Pelin K, Lehtokari VL.   +30 more
europepmc   +1 more source

The Impact of Heritable Myopathies on Gastrointestinal Skeletal Muscle Function. [PDF]

Cell Mol Gastroenterol Hepatol
Iyer A, Alizadeh M, Mariano JM, Kontrogianni-Konstantopoulos A, Raufman JP.   +4 more
europepmc   +1 more source

Nemaline myopathy mechanisms [PDF]

Nature Genetics, 1995
openaire   +1 more source

NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders. [PDF]

Front Neurosci
Manjunath U, R V, Kulkarni SS, Reddy HN, Anil A, Mishra RK, Iyer GR.   +6 more
europepmc   +1 more source

Whole Genome Sequence Identifies the Second Allele: An Intronic Variant in RYR1 Contributes to Early-Onset Fetal Akinesia Deformation Sequence. [PDF]

Mol Syndromol
Wang M, Hong J, Han S, Jin P, Xu C, Qian Y, Dong M.   +6 more
europepmc   +1 more source