Results 131 to 140 of about 10,028,553 (168)

HSP90 inhibition partially rescues alternative splicing dysregulation in cell models of myotonic dystrophy. [PDF]

J Biol Chem
Zhang J, Mascorro A, Oishi H, Aliyeva A, Shaughnessy S, Sheng J, Reddy K, Cleary JD, Berglund JA.   +8 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

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

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

MBNL proteins in health, disease, and therapeutic applications. [PDF]

Nucleic Acids Res
Musiała-Kierklo N, Konieczny P, Plewka P, Jasiok A, Stępniak-Konieczna E.   +4 more
europepmc   +1 more source

Enhanced muscle uptake of chemically optimized miR-23b antisense oligonucleotides as lead compounds for myotonic dystrophy type 1. [PDF]

Am J Hum Genet
González-Martínez I, Cerro-Herreros E, Carrascosa-Sàez M, García-Rey A, Piqueras-Losilla D, Colom-Rodrigo A, Moreno N, Chakraborty M, Huguet-Lachon A, González-Barriga A, Naldaiz-Gastesi N, Dehesa M, Díaz-Maqueda A, Barquero N, Varela MA, López de Munain A, Eritja R, Gourdon G, López-Castel A, Pérez-Alonso M, Llamusi B, Artero R.   +21 more
europepmc   +1 more source

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

European Journal of Human Genetics, 2004
Udgivelsesdato: 2004-SepMutations in the CLCN1 gene, encoding a muscle-specific chloride channel, can cause either recessive or dominant myotonia congenita (MC).
Morten Grunnet, John Vissing, Thomas Jespersen   +2 more
exaly   +3 more sources

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

Molecular Biology Reports, 2014
Mutations in the chloride channel gene CLCN1 cause the allelic disorders Thomsen (dominant) and Becker (recessive) myotonia congenita (MC). The encoded protein, ClC-1, is the primary channel that mediates chloride (Cl-) conductance in skeletal muscle ...
Stefania Corti, Nereo Bresolin, Francesca Magri   +2 more
exaly   +3 more sources