Results 111 to 120 of about 2,557 (149)

Changes in RNA splicing as a surrogate endpoint for myotonic dystrophy Type 1 (DM1) clinical trials. [PDF]

J Neuromuscul Dis
Berglund JA, Novack A, Ivanovska Holder I, Ray S, Johnson NE.   +4 more
europepmc   +1 more source

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing. [PDF]

J Neuromuscul Dis
Pion E, Cossée M, Biancalana V, Bourdain CA, Bouchet-Seraphin C, Fauré J, Froissart R, Leturcq F, Menassa R, Metay C, Michel-Calemard L, Nectoux J, Petit F, Rendu J, Richard P, Sternberg D, Vuillaumier-Barrot S, Goethem CV, Thèze C, Attarian S, Krahn M, Gorokhova S.   +21 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

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

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

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

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

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

RNA splicing in health and disease. [PDF]

Mol Biomed
Huang H, Yu Y, Zhou Q, Deng G, Li Y, Zeng F.   +5 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