Results 131 to 140 of about 3,216 (202)

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

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

Integrating sequence-based GWAS and comparative genomic analysis reveals conservation and species-specificity of putative functional variants influencing tail length and tail abnormalities in pigs and sheep. [PDF]

PLoS One
Zhang X, Mainzer J, Giambra I, Yin T, Engel P, Hümmelchen H, Wagner H, Wehrend A, Egerer C, Gerhards K, Reiner G, König S.   +11 more
europepmc   +1 more source

Skeletal muscle Na+ channel disorders [PDF]

, 2011
Dina Simkin
core   +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

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

A preliminary study on the prognostic impact of platelet to monocyte ratio and its related genes on non-small cell lung cancer. [PDF]

BMC Cancer
Tang Y, Huang Y, Chen L, Huang Z, Huang X, He Z.   +5 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

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