Results 151 to 160 of about 11,146 (222)

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

Cardiac Involvement in Myotonic Dystrophy Type 1: Mechanisms, Clinical Perspectives, and Emerging Therapeutic Strategies. [PDF]

Int J Mol Sci
Ginjupalli VKM, Reisqs JB, Cupelli M, Chahine M, Boutjdir M.   +4 more
europepmc   +1 more source

Multisystem Symptoms in Myotonic Dystrophy Type 1: A Management and Therapeutic Perspective. [PDF]

Int J Mol Sci
Kuntawala DH, Vitorino R, Cruz AC, Martins F, Rebelo S.   +4 more
europepmc   +1 more source

Identification of enzymatically modified isoquercitrin as a therapeutic lead for myotonic dystrophy type 1. [PDF]

NAR Mol Med
Mishra SK, Hicks SM, Frias JA, Zhang J, Handley MT, Vangaveti S, Reid TS, Pandey A, McMichael O, Crumbaugh C, Provenzano M, Hale MA, Johnson NE, Nakamori M, Cleary JD, Reddy K, Berglund JA.   +16 more
europepmc   +1 more source

A systems perspective on rare diseases: integrating human phenotype ontology with the Anukta framework of Ayurveda. [PDF]

J Ayurveda Integr Med
Jangir D, Joshi A, Thrigulla SR, Kumar A, Mukerji M.   +4 more
europepmc   +1 more source

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

Elevated Levels of Active GSK3β in the Blood of Patients with Myotonic Dystrophy Type 1 Correlate with Muscle Weakness. [PDF]

Int J Mol Sci
Jennings K, Tian C, Brown RL, Horn PS, Schoser B, Kushlaf H, Timchenko NA, Timchenko L.   +7 more
europepmc   +1 more source

[Myotonias].

Medicina, 1981
openaire   +1 more source

Quantitative susceptibility mapping in myotonic dystrophy: clinical relevance of subcortical iron accumulation. [PDF]

Brain Commun
Fiscone C, Rochat MJ, De Pasqua S, Mitolo M, Vornetti G, Bartiromo F, Cirignotta L, Pizza F, Nardozza M, Venturi G, Manners DN, Avoni P, Liguori R, Tonon C, Lodi R.   +14 more
europepmc   +1 more source