Results 131 to 140 of about 3,195 (191)

Identification of Splicing Regulatory Activity of ATXN1 and Its Associated Domains. [PDF]

Biomolecules
Ohki A, Kato M, Aoki Y, Kubokawa A, Yanaizu M, Kino Y.   +5 more
europepmc   +1 more source

Pharmacological therapy of non-dystrophic myotonias. [PDF]

Acta Myol
Saltarella I, Laghetti P, Dell'Atti S, Altamura C, Desaphy JF.   +4 more
europepmc   +1 more source

Epigenetic aging signatures and age prediction in human skeletal muscle. [PDF]

Aging (Albany NY)
Yang SB, Lee JM, Kim MY, Lee SD, Lee HY.
europepmc   +1 more source

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods. [PDF]

Sci Rep
Molaei N, Alagha P, Khanbazi A, Beheshtian M, Ahangari F, Dehdahsi S, Fadaee M, Ashki M, Ghaderi Z, Elahi Z, Vazehan R, Parsimehr E, Nouri MM, Saei P, Noudehi K, Fatehi F, Najafabadi SZ, Abolhassani A, Afroozan F, Yazdan H, Kelishomi MA, Azad M, Parvini F, Kassaee SM, Ramezani M, Zemorshidi F, Salimipour H, Abdi S, Bakhshandeh M, Fayyazi A, Zamani G, Ashrafi MR, Jamali P, Sarraf P, Okhovat AA, Ashtiani BH, Fatehi F, Karimzadeh P, Nafissi S, Kahrizi K, Kariminejad A, Najmabadi H.   +41 more
europepmc   +1 more source

Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field

Frontiers in Neurology, 2020
Lorenzo Maggi, Emma Matthews, Emma Matthews, Jean-François Desaphy   +3 more
doaj   +1 more source

A Very Rare Setx Gene Variant (C.2750T>C) In a 72-year-old Man with Amyotrophic Lateral Sclerosis and an Unremarkable Family History. Should Genetic Testing be Routinely Performed in all Patients? [PDF]

Eur J Case Rep Intern Med
Posa A, Kornhuber M.
europepmc   +1 more source

Novel Lys215Asn mutation in an Italian family with Thomsen myotonia [PDF]

, 2018
A. Rigamonti, A. Salmaggi, G.P. Comi, R. Balgera, S. Lucchiari, V. Mantero   +5 more
core   +1 more source

Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature. [PDF]

Acta Myol
Lucchiari S, Magri F, Rimoldi M, Pagliarani S, Corti S, Comi GP, Sciacco M.   +6 more
europepmc   +1 more source

Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders. [PDF]

Neurogenetics
Radziwonik-Fraczyk W, Elert-Dobkowska E, Karpinski M, Pilch J, Ziora-Jakutowicz K, Kubalska J, Szczesniak D, Stepniak I, Zaremba J, Sulek A.   +9 more
europepmc   +1 more source

Comparative Analysis of Splicing Alterations in Three Muscular Dystrophies. [PDF]

Biomedicines
Todorow V, Hintze S, Schoser B, Meinke P.   +3 more
europepmc   +1 more source