Results 131 to 140 of about 2,422 (183)

Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications. [PDF]

Genes (Basel)
Miyoshi H, Mukaida K, Otsuki S, Kido K, Sumii A, Ikeda T, Xia G, Noda Y, Ishii T, Kamiya S, Narasaki S, Niinai H, Tsutsumi YM.   +12 more
europepmc   +1 more source

Limb-Girdle Muscular Dystrophy Type 2B and Morbihan Disease: A Case Report With an Atypical Presentation. [PDF]

Cureus
Briceño Moya F, Hernández Hernández AB, Delgado Carmona DK.   +2 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

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

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

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

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

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

Diagnosis of dysferlinopathy masked by a superimposed hypothyroid myopathy. [PDF]

BMJ Case Rep
Benn KW, Bhalala OG, Day TJ, French CR.
europepmc   +1 more source