Results 101 to 110 of about 2,226 (158)

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

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

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

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

Current biomarker development in myotonic dystrophies. [PDF]

J Neurol
Larsen M, Mendelsohn DH, Kleefeld F, Meinke P, Schoser B.   +4 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

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

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