Results 91 to 100 of about 3,329 (204)

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

Guidelines on clinical presentation and management of non-dystrophic myotonias [PDF]

, 2020
The non‐dystrophic myotonias (NDMs) are rare muscle hyperexcitability disorders caused by gain‐of‐function mutations in the SCN4A gene or loss‐of‐function mutations in the CLCN1 gene.
Arnold, WD, Barohn, RJ, Cannon, SC, Fontaine, B, Griggs, RC, Hanna, MG, LoRusso, S, Matthews, E, Meola, G, Sansone, VA, Statland, JM, Stunnenberg, B, Trivedi, JR, van Engelen, B, Vicart, S   +14 more
core  

Skeletal muscle channelopathies: a guide to diagnosis and management [PDF]

, 2021
Skeletal muscle channelopathies are a group of rare episodic genetic disorders comprising the periodic paralyses and the non-dystrophic myotonias.
Fialho, D, Holmes, S, Matthews, E
core  

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

The spectrum of myopathies in the city of São Paulo

Arquivos de Neuro-Psiquiatria, 1976
A review of all myopathic patients treated at the Neurologic Clinic of the Medical School of the University of São Paulo during the past 15 years is reported.
José A. Levy, Abram Topczewski, Lucia Iracema Z. de Mendonça, Mayana Zatz, Ruth Blay Levisky   +4 more
doaj   +1 more source

Prevalence of myotonic dystrophy in Iceland [PDF]

, 2007
Neðst á síðunni er hægt er að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenOBJECTIVE: Epidemiologic studies of Myotonic Dystrophy (Dystrophic Myotony, DM) have shown variable regional prevalence from 0,46 to 189/105.
Gerður Leifsdóttir, Guðjón Jóhannesson, John Benedikz, Jón Jóhannes Jónsson, Sigurlaug Svein­björnsdóttir   +4 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  

Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies

European Journal of Histochemistry, 2009
Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage- gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4) give rise to hyperkalemic periodic paralysis ...
G Meola, V Sansone, G Rotondo, E Mancinelli   +3 more
doaj   +1 more source

Revisión bibliográfica sobre la paramiotonía congénita [PDF]

, 2013
Introducción. La paramiotonía congénita es una infrecuente patología muscular hereditaria cuyos síntomas principales son la miotonía no distrófica y los periodos de paresia/parálisis.
Guirao Martínez, Sebastián
core   +1 more source

ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations. [PDF]

Biomedicines, 2023
Brenes O, Pusch M, Morales F.
europepmc   +1 more source