Results 81 to 90 of about 10,373 (189)

Domestic cats genotyped for the CLCN1 mutation associated with myotonia congenita.

, 2014
Domestic cats genotyped for the CLCN1 mutation associated with myotonia congenita.
Rob J. Daniel (652006), Melanie D. Youngs (652007), Stacey B. Leach (652008), Ling T. Guo (84296), Boyd R. Jones (106691), Leslie A. Lyons (106603), Dennis P. O'Brien (241639), Barbara Gandolfi (106586), G. Diane Shelton (84300)   +8 more
core   +1 more source

Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita

, 2015
We aim to demonstrate the effect of mexiletine on the compound muscle action potential (CMAP) amplitude transitory depression (TD) in a cohort of patients with recessive myotonia ...
D'Amico, Adele, Luigetti, Marco, Modoni, Anna, Lo Monaco, Mauro   +3 more
core   +2 more sources

THOMSENʼS DISEASE (Myotonia Congenita) [PDF]

The Journal of Nervous and Mental Disease, 1890
n ...
openaire   +1 more source

SNPs analyses of CLCN1 in cats with and without myotonia congenita.

, 2014
SNPs analyses of CLCN1 in cats with and without myotonia congenita.
Rob J. Daniel (652006), Melanie D. Youngs (652007), Stacey B. Leach (652008), Ling T. Guo (84296), Boyd R. Jones (106691), Leslie A. Lyons (106603), Dennis P. O'Brien (241639), Barbara Gandolfi (106586), G. Diane Shelton (84300)   +8 more
core   +1 more source

Trunk sway analysis to quantify the warm-up phenomenon in myotonia congenita patients. [PDF]

, 2009
Contains fulltext : 81035.pdf (Publisher’s version ) (Open Access)OBJECTIVE: Patients with autosomal recessive myotonia congenita display myotonia and transient paresis that diminish with repetitive muscle contractions (warm-up ...
Engelen, B.G.M. van, Horlings, G.C., Pieterse, A.J., Drost, G., Trip, J., Allum, J.H.J., Bloem, B.R.   +6 more
core   +1 more source

ClC-1 chloride channels: state-of-the-art research and future challenges

Frontiers in Cellular Neuroscience, 2015
The voltage-dependent ClC-1 chloride channel belongs to the CLC channel/transporter family. It is a homodimer comprising two individual pores which can operate independently or simultaneously according to two gating modes, the fast and the slow gate of ...
Paola eImbrici, Concetta eAltamura, Mauro ePessia, Renato eMantegazza, Jean-Francois eDesaphy, Diana eConte Camerino   +5 more
doaj   +1 more source

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.

, 2012
To assess whether exon deletions or duplications in CLCN1 are associated with recessive myotonia congenita (MC)
Haworth, A, Lunt, P, Hanna, MG, Toscano, A, Matthews, E, Burge, J, Schorge, S, Raja Rayan, DL, Portaro, S, McEntagart, M, Davis, MB, Sud, R, Fialho, D, Tuin, K   +13 more
core   +1 more source

Myotonic Disorders in an EMG Lab Over 12 Years

Pediatric Neurology Briefs, 2012
Researchers at the EMG Laboratory, Boston Children's Hospital, MA assessed the spectrum of disorders associated with electrophysiologic myotonia in a pediatric electromyography laboratory.
J Gordon Millichap
doaj   +1 more source

Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]

, 2002
Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Beck-Peccoz, P, Achermann, JC, Romoli, R, Spada, A, Mantovani, G, Persani, L, Jameson, JL, Ozisik, G, Borretta, G   +8 more
core  

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