Results 71 to 80 of about 39,732 (154)

Novel Transcripts from the human DKC1 gene [PDF]

, 2010
Dyskeratosis congenita is a rare genetic disorder that causes a variety of symptoms, including mucocutaneous features, stem cell dysfunction, telomere shortening, ribosomal failure and increased susceptibility to cancer.
Angrisani, Alberto
core   +1 more source

Muscle channelopathies and electrophysiological approach

Annals of Indian Academy of Neurology, 2008
Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness.
Cherian Ajith, Baheti Neeraj, Kuruvilla Abraham   +2 more
doaj  

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay [PDF]

, 1999
Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the ...
Meeks, JJ, Seminara, SB, Habiby, RL, Bick, DP, Kotlar, TJ, Gu, WX, Hindmarsh, PC, Achermann, JC, Crowley, WF, Sabacan, LP, Sherins, RJ, Layman, LC, Jameson, JL   +12 more
core  

Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita

, 1998
The F1473S mutation of the adult human skeletal muscle Na+ channel causes paramyotonia congenita, a disease characterized by muscle stiffness sometimes followed by weakness in a cold environment.
Deymeer, F, Fleischhauer, R, Lerche, H, Mitrovic, N, Lehmann-Horn, F   +4 more
core   +1 more source

de novo mutation in scn4agene detected in polish patient with paramyotonia congenita phenotype

, 2017
A 16-year-old Polish male child was referred to confirm the diagnosis of myotonia congenita. For several years he had experienced cold-induced myotonia and muscle stiffness.
B. Zapała, A. Spychałowicz, U. Ciałowicz, Z. Żuber, B. Solnica   +4 more
semanticscholar   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Punctal and Canalicular Obstruction Associated with Dyskeratosis Congenita

, 2015
Dyskeratosis congenita is a rare X-linked recessive, multisystem disease characterized by bone marrow failure, oral leukoplakia, nail dystrophy, and reticular skin pigmentations. It is also associated with ocular abnormalities.
Sercan Koray Sağdıç, Taner Kar, Yıldıray Yıldırım, Ercan Karabacak   +3 more
core   +1 more source

Multiple sclerosis and non-dystrophic myotonias: Do they share a common pathophysiology?

, 2018
Some patients with multiple sclerosis (MS) complain of symptoms, suchas myokymia, myotonia, spasms, and stiffness, which have been demonstrated to be due to a concurrent non-dystrophic myotonia, i.e. myotonia congenita or paramyotonia congenita.
Bramanti A., Calabro R. S., Naro A., Portaro S., D'aleo G., La Rosa G., Russo M., Lauria P., Bramanti P.   +8 more
core   +1 more source

Correlating phenotype and genotype in the periodic paralyses

, 2004
BACKGROUND: Periodic paralyses and paramyotonia congenita are rare disorders causing disabling weakness and myotonia. Mutations in sodium, calcium, and potassium channels have been recognized as causing disease.
Servidei, Serenella
core   +1 more source

Linkage analysis of candidate loci in autosomal dominant myotonia congenita.

, 1992
Electrophysiologic studies in patients with autosomal dominant myotonia congenita (ADMC) have implicated defects of both muscle membrane sodium and chloride channels.
Casley, WL, Hudson, AJ, Ebers, GC, Ebers, George, Cousin, HK, Abdalla, JA, Murphy, EG, Armstrong, HA   +7 more
core   +1 more source