Results 91 to 100 of about 880 (137)

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

Muscle MRI Pattern in Dysferlinopathy and its Correlation with Dysferlin Gait. [PDF]

Ann Indian Acad Neurol
Chawla T, Baskar D, Polavarapu K, Preethish-Kumar V, Nashi S, Vengalil S, Kulanthaivelu K, Saini J, Huddar A, Unnikrishnan G, Nandeesh BN, Nalini A.   +11 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

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

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

An analysis of dysferlin mutations in Japanese patients with Miyoshi myopathy

, 2001
openaire   +1 more source

Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review. [PDF]

Hum Genomics
Xia Y, Ma Y.
europepmc   +1 more source

Uncovering compound heterozygous <i>DYSF</i> variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B. [PDF]

Front Genet
Li J, Zhou J, Ji C, Ma S, Zhu J, Yang T, Dong D, Ping Y.   +7 more
europepmc   +1 more source