Results 111 to 120 of about 45,552 (135)

Long-term clinical and radiological trajectories in ANO5-related myopathies highlight muscle MRI as a predictor of disease progression. [PDF]

J Neurol
Aragon-Gawinska K, Martí P, Azorín I, Sivera R, Aller E, Pitarch I, Benlloch C, Tárrega M, Vilar R, Díaz C, Sánchez-Roy R, Más-Estellés F, Frasquet M, Vázquez-Costa JF, Otero-Borell M, Vilchez R, Vilchez JJ, Sevilla T, Muelas N.   +18 more
europepmc   +1 more source

Diffuse Large B-cell Lymphoma Complicated with Anti-3-hydroxy-3-methylglutaryl-Coenzyme A Reductase Immune-mediated Necrotizing Myopathy. [PDF]

Intern Med
Tokunaga Y, Akiyama M, Nakano K, Konaka K, Taguchi A, Maeda T, Sato R, Kanda T, Nakamura Y, Yujiri T, Ohta Y.   +10 more
europepmc   +1 more source

Impact of an Intensive Lipid-Lowering Therapy Protocol on Achieving Target Low-Density Lipoprotein Cholesterol Levels in Patients With Acute Coronary Syndrome. [PDF]

Circ Rep
Seiyama K, Oka A, Miyoshi T, Sudo Y, Takagi W, Ugawa S, Okada T, Nosaka K, Doi M.   +8 more
europepmc   +1 more source

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region. [PDF]

Ital J Pediatr
Güner Özcanyüz D, GüL Mert G, Özcan N, Bilge S, İncecik F, Zorludemir S, Tuğ Bozdoğan S, Hergüner MÖ.   +7 more
europepmc   +1 more source

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing. [PDF]

Glob Med Genet
Mathur P, Kaur A, Vijay U, Gupta A, Agarwal K, Agrawal L.   +5 more
europepmc   +1 more source

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies†‡

Human Mutation, 2005
International audienceDYSF encoding dysferlin is mutated in Miyoshi myopathy and Limb-Girdle Muscular Dystrophy type 2B, the two main phenotypes recognized in dysferlinopathies.
Nicolas Levy, Karine Nguyen, Christophe Beroud   +2 more
exaly   +2 more sources

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Miyoshi-like distal myopathy with mutations in gene

Revue Neurologique, 2012
N Romero, A Behin, F Leturcq
exaly  

Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene

Journal of the Neurological Sciences, 2001
Hiroshi Takashima, K Arahata, Itsuro Higuchi   +2 more
exaly  

Discordant manifestation in brothers with Miyoshi myopathy

Journal of the Neurological Sciences, 2017
Kongkiat Kulkantrakorn
exaly