Results 131 to 140 of about 2,738 (205)

Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of SCN4A and CLCN1 Variants: A Case Report. [PDF]

Neurol Genet
Tugizova M, Margeta M, Richie M, Pet D, Rosow L, Terrelonge M, Ralph JW.   +6 more
europepmc   +1 more source

Myotonia Congenita in Australian Merino Sheep with a Missense Variant in CLCN1. [PDF]

Animals (Basel)
Manning LK, Eager KLM, Willet CE, Slattery S, McNally JH, Spiers ZB, Hazelton M, Child G, Duggan R, O'Rourke BA, Tammen I.   +10 more
europepmc   +1 more source

Differential pathology and susceptibility to MBNL loss across muscles in myotonic dystrophy mouse models. [PDF]

JCI Insight
Davenport ML, Fong A, Montoya-Vazquez G, de Moura MFA, Bubenik JL, Swanson MS.   +5 more
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

Corrigendum to: A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog. [PDF]

J Vet Diagn Invest, 2023
europepmc   +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

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

Assessing the Safety and Efficacy of Lamotrigine as Anti-myotonic Agent in Myotonic Dystrophy Type 1 (DM1): A Longitudinal, Open-Label, Pilot Study. [PDF]

Neurol Ther
Risi B, Ait Allali N, Cotti Piccinelli S, Caria F, Damioli S, Labella B, Bertella E, Giovanelli G, Garofali F, Margollicci G, Carugati R, Ferullo L, Olivieri E, Poli L, Padovani A, Filosto M.   +15 more
europepmc   +1 more source

Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity. [PDF]

Arch Med Sci
Szczęśniak D, Bednarska-Makaruk M, Drgas O, Kowalczyk K, Kacprzak MM, Aleksandrowicz P, Kotuła L, Mroczek M.   +7 more
europepmc   +1 more source

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