Results 181 to 190 of about 12,609 (254)

Dantrolene-Responsive Muscle Stiffness in a Patient With a Normal Neurologic Exam and EMG: A Case Report. [PDF]

Case Rep Neurol Med
Deardorff AS, Burford MJ, Rich MM.
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

BK channels promote action potential repolarization in skeletal muscle but contribute little to myotonia. [PDF]

Pflugers Arch
Dupont C, Blake B, Voss AA, Rich MM.
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

Differential pathology and susceptibility to MBNL loss across muscles in myotonic dystrophy mouse models. [PDF]

JCI Insight
Davenport ML, Fong A, Montoya-Vazquez G, de Moura MFA, Bubenik JL, Swanson MS.   +5 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

Risk of Cardiac Disease in a Population-Based Cohort of Myotonic Dystrophy Type 1 and Type 2 in the United States. [PDF]

Neurol Genet
Johnson NE, Bhandaru V, Andrews JG, Jaff T, Venkatesh YS, Raucci FJ, Soim A, Ciafaloni E, Rice MM, as the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).   +11 more
europepmc   +1 more source

Myotonia: Remarks on, apropos of a case of Paramyotonia limited to the Orbicularis Palpebrarum.

, 1923
Alfred Gordon
openalex   +1 more source