Results 91 to 100 of about 1,941 (150)

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

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita. [PDF]

Front Genet
Lucchiari S, Fortunato F, Meola G, Mignarri A, Pagliarani S, Corti S, Comi GP, Ronchi D.   +7 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

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

A Case of Congenital Myotonia Caused by Compound Heterozygous Mutations in CLCN1 Gene

Advances in Clinical Medicine
openaire   +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

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

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