Results 81 to 90 of about 1,189 (168)

Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models. [PDF]

Eur J Hum Genet
Tedesco B, Peric S, Kocak GS, Tan J, Duong H, Töpf A, Rakocevic-Stojanovic V, Milenkovic S, Parkhurst Y, Gibbs L, Martin-Rios A, Lambiase PD, Guttmann OP, Marini-Bettolo C, Harris E, Harms MB, Ivanovic V, Marchesi V, Milone M, Timmerman V, Straub V, Poletti A, Kimonis V.   +22 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

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

Reply to: "Before Coming to the Conclusion That Inclusion Body Myositis Is a Risk Factor for a Heart Attack, All Influencing Factors Must Be Taken Into Account". [PDF]

Eur J Neurol
Naddaf E.
europepmc   +1 more source

Current advance on distal myopathy genetics. [PDF]

Curr Opin Neurol
Ranta-Aho J, Johari M, Udd B.
europepmc   +1 more source

Clinicopathological-genetic features of neutral lipid storage disease with myopathy from a Chinese neuromuscular center. [PDF]

Orphanet J Rare Dis
Luan YN, Shi GZ, Li QX, Huang K, Yang H.
europepmc   +1 more source

Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies. [PDF]

Int J Mol Sci
Ziemian M, Szmydtka J, Snoch W, Milner S, Wojciechowski S, Dłuszczakowska A, Chojnowski JW, Pallach Z, Żamojda K, Węgrzyn G, Rintz E.   +10 more
europepmc   +1 more source

Insights into the heterogeneity of oculopharyngeal muscular dystrophy. [PDF]

Neurogenetics
Kekou K, Papadopoulos C, Svingou M, Chrysanthou-Piterou M, Nitsa E, Veltra D, Marinakis N, Tilemis FN, Dimitrios P, Arnaoutoglou M, Moschou M, Xirou S, Bakirtzis C, Tsivgoulis G, Papadimas GK, Sofocleous C.   +15 more
europepmc   +1 more source

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy. [PDF]

Neurol Genet
Schiava M, Parkhurst Y, Henderson M, Polvikoski T, Valtcheva MV, Nishino I, Inoue M, Nishimori Y, Saito Y, Stojkovic T, Villar-Quiles RN, Romero NB, Evangelista T, Malfatti E, Souvannanorath S, Pegoraro E, Riguzzi P, Monforte M, Bortolani S, Torchia E, Sabatelli M, Tasca G, Straub V, Marini-Bettolo C, Guglieri M, Cetin H, Gelpi E, Klotz S, De Bleecker JL, Alonso-Jimenez A, Baets J, De Ridder W, De Jonghe P, Claeys KG, Thal DR, Bevilacqua JA, Luo S, Zhu W, Lin J, Papadimas G, Papadopoulos C, Zamba-Papanicolaou E, Xirou S, Pal E, Rodolico C, Kostera-Pruszczyk A, Kierdaszuk B, Kaminska A, Muelas N, Vilchez JJ, Domínguez-González C, Hernandez-Lain A, Alonso-Perez J, Nedkova-Hristova V, Aledo C, Oldfors A, Badrising UA, Kushlaf H, Lloyd TE, Ikenaga C, Alfano LN, Quinn CC, Walk D, Vorgerd M, Weihl C, Olivé M, Diaz-Manera J, VCP International Study Group.   +67 more
europepmc   +1 more source

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy. [PDF]

Hum Mol Genet
Dofash LNH, Folland C, Dyke J, Farhat E, Chaabouni M, Miladi N, Needham M, Lamont PJ, Ashton C, Ravenscroft G.   +9 more
europepmc   +1 more source