Results 141 to 150 of about 3,216 (202)

Molekularbiologie in der Neurologie [PDF]

, 1994
Borasio, Gian Domenico, Brandt, T., Gasser, T.   +2 more
core  

Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders. [PDF]

Neurogenetics
Radziwonik-Fraczyk W, Elert-Dobkowska E, Karpinski M, Pilch J, Ziora-Jakutowicz K, Kubalska J, Szczesniak D, Stepniak I, Zaremba J, Sulek A.   +9 more
europepmc   +1 more source

RNA mis-splicing in children with congenital myotonic dystrophy is associated with physical function. [PDF]

Ann Clin Transl Neurol
Hartman JM, Ikegami K, Provenzano M, Bates K, Butler A, Jones AS, Berggren KN, Dekdebrun J, McKay MJ, Baldwin JN, Cornett KMD, Burns J, Kiefer M, Johnson NE, Hale MA, DMCRN Consortium.   +15 more
europepmc   +1 more source

Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature. [PDF]

Acta Myol
Lucchiari S, Magri F, Rimoldi M, Pagliarani S, Corti S, Comi GP, Sciacco M.   +6 more
europepmc   +1 more source

Comparative Analysis of Splicing Alterations in Three Muscular Dystrophies. [PDF]

Biomedicines
Todorow V, Hintze S, Schoser B, Meinke P.   +3 more
europepmc   +1 more source

Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity. [PDF]

Arch Med Sci
Szczęśniak D, Bednarska-Makaruk M, Drgas O, Kowalczyk K, Kacprzak MM, Aleksandrowicz P, Kotuła L, Mroczek M.   +7 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

Carbamazepine treatment of myotonia congenita in a cat. [PDF]

JFMS Open Rep
Lopez Bonilla GV, Parsley E, Shelton GD, Faissler D.   +3 more
europepmc   +1 more source

Use of HSA^LR female mice as a model for the study of myotonic dystrophy type I. [PDF]

Lab Anim (NY)
Carrascosa-Sàez M, Colom-Rodrigo A, González-Martínez I, Pérez-Gómez R, García-Rey A, Piqueras-Losilla D, Ballestar A, Llamusí B, Cerro-Herreros E, Artero R.   +9 more
europepmc   +1 more source

Novel insights into neuropathy: The impact of prolonged hyperglycemia on long non-coding RNA expression. [PDF]

PLoS One
Zglejc-Waszak K, Jastrzebski JP, Wojtkiewicz J, Pidsudko Z, Juranek JK.   +4 more
europepmc   +1 more source