Results 101 to 110 of about 1,745 (185)

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement [PDF]

, 1996
Becker, A.E. (Anton), Bouwsma, G. (G.), Busch, H.F.M. (Herman), Kooj, A.J. (Anneke), Ledderhof, T.M. (T.), Res, J. (Jan), Troost, D. (Dirk), Visser, M. (Marianne) de, Voogt, W.G. (W.) de   +8 more
core   +1 more source

Expanding the Molecular and Pathologic Spectrum of <i>HSPB8</i> Myopathy and Distal Motor Neuropathy. [PDF]

Neurol Genet
Putko BN, Sorenson EJ, Cui G, Liewluck T, Niu Z, Litchy WJ, Mer G, Milone M.   +7 more
europepmc   +1 more source

The Myositis Overlap Conundrum: Differentiating Polymyositis from Inclusion Body Myositis. [PDF]

Juntendo Med J
Hein M, Aung WLL, Thu EM, Huda AA.
europepmc   +1 more source

First Identification of CGG-Repeat Expansions in <i>LRP12</i> in Korean Families With Oculopharyngodistal Myopathy Type 1. [PDF]

J Clin Neurol
Lee K, Mitsutake A, Ishiura H, Park HJ.
europepmc   +1 more source

Autophagy in GNE Myopathy [PDF]

, 2013
Cho, Anna, Noguchi, Satoru
core   +2 more sources

Genetic Spectrum and Phenotypic Variability in Chinese Patients with Multisystem Proteinopathy and Related Disorders. [PDF]

Degener Neurol Neuromuscul Dis
Xia X, Chen X, Sun Y, Zhang M, Qiao K, Chen Y, Zhao C, Dong Y, Zhu W.   +8 more
europepmc   +1 more source

Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle. [PDF]

J Hum Genet
Inoue M.
europepmc   +1 more source

Myouclear Breakdown in Sporadic Inclusion Body Myositis [PDF]

, 2011
Hirofumi Kusaka, Satoshi Nakano
core   +1 more source

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA). [PDF]

J Neuropathol Exp Neurol
Merlet AN, Lacène E, Nelson I, Brochier G, Labasse C, Chanut A, Madelaine A, Beuvin M, Bonne G, Féasson L, Minot MC, Noury JB, Fradin M, Savarese M, Fernández-Eulate G, Behin A, Stojkovic T, Hentschel A, Marcorelles P, Roos A, Evangelista T.   +20 more
europepmc   +1 more source

ANXA11 Variant-Associated Adult-Onset Myopathy: A Novel Phenotype. [PDF]

Ann Indian Acad Neurol
Mahale RR, Padmanabha H, Mailankody P.
europepmc   +1 more source