Results 201 to 210 of about 12,800 (285)

Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies. [PDF]

Eur J Neurol
Gómez-Andrés D, Costa-Comellas L, Díaz-Manera J, Õunap K, Álvarez-Molinero M, Urcuyo G, Savarese M, Munell F, Udd B.   +8 more
europepmc   +1 more source

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

, 2014
Phillipa J. Lamont, William Wallefeld, David Hilton‐Jones, Bjarne Udd, Zohar Argov, Alexandru Barboi, Carsten Bönneman, Kym M. Boycott, Kate Bushby, Anne M. Connolly, Nicholas P. Davies, Alan H. Beggs, Gerald F. Cox, Jahannaz Dastgir, Elizabeth T. DeChene, Rebecca Gooding, Heinz Jungbluth, Nuria Muelas, Johanna Palmio, Sini Penttilä, Eric Schmedding, Tiina Suominen, Volker Straub, Christopher Staples, Peter Van den Bergh, Juan J. Vílchez, Kathryn R. Wagner, Patricia G. Wheeler, Elizabeth Wraige, Nigel G. Laing   +29 more
openalex   +2 more sources

Autoimmune Neuromuscular Disorders at a Molecular Crossroad: Linking Pathogenesis to Targeted Immunotherapy. [PDF]

Int J Mol Sci
Florea AM, Luca DG, Davidescu EI, Popescu BO.   +3 more
europepmc   +1 more source

Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions. [PDF]

World J Methodol
Al-Beltagi M, Saeed N, Bediwy A, Elbeltagi R.   +3 more
europepmc   +1 more source

Rapidly Progressive Polymyositis With Vasculitis: The Pivotal Role of Histopathology in Diagnosis and Management. [PDF]

Cureus
Venmanassery Karnalsingh A, Karappilly Vijayan A, Roselin Edwin Peter M, Davis D.   +3 more
europepmc   +1 more source

Mitochondrial cardiomyopathy with skeletal muscle myopathy caused by m.3260A > G mutation in MT-TL1 gene: a case report. [PDF]

J Med Case Rep
Kadiša A, Vereskuns R, Tarasovs M, Mičule I, Inashkina I.   +4 more
europepmc   +1 more source

Distal nebulin myopathy [PDF]

, 2020
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

Effects of Muscle Strengthening Exercise in Distal Myopathy with Rimmed Vacuoles. A Case Report.

, 2000
Masayoshi Obana, Tamaki TAMARI
openalex   +2 more sources

Myosinopathies: pathology and mechanisms [PDF]

core   +1 more source