Results 161 to 170 of about 12,609 (254)

Cortical involvement during myotonia in myotonic dystrophy: an fMRI study

Acta Neurologica Scandinavica, 2015
A. Tóth, E. Lovadi, S. Komoly, A. Schwarcz, G. Orsi, G. Perlaki, P. Bogner, Á. Sebők, N. Kovács, E. Pál, J. Janszky   +10 more
semanticscholar   +1 more source

TANGO2 deficiency disorder in a 61-year-old male with episodic weakness, rhabdomyolysis, myotonia, and a novel missense variant. [PDF]

Mol Genet Metab Rep
Skocy H, McFerren A, Cairns D, Kenney HM, Tallis E, Dhamoon AS, Garbade E, Mackenzie SJ.   +7 more
europepmc   +1 more source

A CASE OF CONGENITAL MYOTONIA

, 1913
G. W. BOOT
openalex   +2 more sources

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

Posterior fossa arachnoid cysts in multiple system atrophy. [PDF]

IBRO Neurosci Rep
Blazek Ramsay AM, Flanagan EP, Coon EA, Jackson LM.   +3 more
europepmc   +1 more source

Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders. [PDF]

Hum Genomics
Kim J, Kim GH, Min S, Seol CA, Seo EJ.
europepmc   +1 more source

Gastrointestinal Manifestations As the Initial Presentation of Neurological Disease. [PDF]

Cureus
Datla P, Gopalan S, Arthur P.
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

Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

, 2013
Amanda Amrita Lakraj, Geoffrey F. Miller, Alexander O. Vortmeyer, Babar Khokhar, Richard J. Nowak, Daniel DiCapua   +5 more
openalex   +1 more source

High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report. [PDF]

J Med Case Rep
Ogueri V, Chong J, Fleming M, Simpson K, Sherwin E, Bharucha-Goebel D, Spurney C.   +6 more
europepmc   +1 more source