Results 141 to 150 of about 12,800 (285)

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles [PDF]

, 2015
Robert C. Bucelli, Khalid Arhzaouy, Alan Pestronk, Sara K. Pittman, Luisa Rojas, Carolyn M. Sue, Anni Evilä, Peter Hackman, Bjarne Udd, Matthew B. Harms, Conrad C. Weihl   +10 more
openalex   +1 more source

Full recovery over one year of the overlap syndrome scleromyositis to maintenance therapy with mycophenolate mofetil and rituximab, which relapsed within 8 months of discontinuation

European Journal of Case Reports in Internal Medicine
Scleromyositis (SM) is an emerging, distinct entity within the spectrum of diffuse systemic sclerosis (SSc) and autoimmune inflammatory myopathies. It can carry a poorer prognosis due to multisystem involvement and extramuscular complications, with no ...
Inês Amarante, Catarina Faustino, Bruna Mota, Mariana Cascais, Jorge Almeida, Marta Valentim   +5 more
doaj   +1 more source

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

, 2013
Mariacristina Scoto, Tom Cullup, Sebahattin Çırak, Shu Yau, Adnan Y Manzur, Long Feng, Thomas S Jacques, Glenn Anderson, Stephen Abbs, Caroline Sewry, Heinz Jungbluth, Francesco Muntoni   +11 more
openalex   +2 more sources

Distal Vacuolar Myopathy in Cystinosis [PDF]

, 1994
J Gordon Millichap
openalex   +1 more source

3) Development of Therapy for Amyotrophic Lateral Sclerosis and Distal Myopathy

, 2012
Masashi Aoki
openalex   +2 more sources

Distal myopathies: clinical and molecular diagnosis and classification [PDF]

, 1999
Francis Mastaglia, Nigel G. Laing
openalex   +1 more source

Assessment of muscle damage using magnetic resonance imaging data in dermatomyositis and sporadic inclusion body myositis

Современная ревматология
Idiopathic inflammatory myopathies (IIM) are a group of rare autoimmune diseases characterized by muscle weakness. IIMs are characterized by heterogeneity of manifestations and include several variants, each of which has peculiarities related to ...
A. A. Kolomeychuk, L. P. Ananyeva, L. V. Ptichkina, A. N. Khelkovskaya-Sergeeva, D. O. Kazakov   +4 more
doaj   +1 more source

A Heterologous Cell Model for Studying the Role of T-Cell Intracellular Antigen 1 in Welander Distal Myopathy [PDF]

, 2018
Isabel Carrascoso, Carmen Sánchez-Jiménez, Elena Silion, José Alcalde, José M. Izquierdo   +4 more
openalex   +1 more source

Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination [PDF]

, 2020
Alexander Mensch, Torsten Kraya, Felicitas Koester, Tobias Müller, Dietrich Stoevesandt, Stephan Zierz   +5 more
openalex   +1 more source

Restictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vaculoles.

, 1993
Sugao Ishiwata, SHINICHIRO NISHIYAMA, Akira Seki, Susumu Kojima   +3 more
openalex   +2 more sources