Results 121 to 130 of about 39,732 (154)

Preclinical study of the antimyotonic efficacy of safinamide in the myotonic mouse model. [PDF]

Neurotherapeutics
Canfora I, Altamura C, Desaphy JF, Boccanegra B, Vailati S, Caccia C, Melloni E, Padoani G, De Luca A, Pierno S.   +9 more
europepmc   +1 more source

Unraveling the pharmacological and therapeutic potential of Ranolazine beyond antianginal drug use: a new insight. [PDF]

Exp Biol Med (Maywood)
Singh D, Oladimeji-Salami JA, Akindele AJ.   +2 more
europepmc   +1 more source

Risorse per la diagnosi e il trattamento della Toxoplasmosi Congenita

, 2001
BUFFOLANO, WILMA, DALLACASA P, RANNO O, STRONATI M, MOMBRO' M, E. GRUPPO DI STUDIO TOXOPLASMOSI CONGENITA SIN   +5 more
core  

Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita

Muscle and Nerve, 2018
Autosomal dominant mutations in the SCN4A-gene cause dysfunction of the skeletal muscle voltage-gated sodium channel (Nav1.4). Skeletal muscle sodium (natrium) channelopathies (NaChs) are typically characterized by myotonia (paramyotonia congenita, PMC),
Damien Sternberg, Bas Stunnenberg
exaly   +3 more sources

Buprenorphine may be effective for treatment of paramyotonia congenita

Muscle and Nerve, 2021
Paramyotonia congenita (PMC) is a skeletal muscle sodium channelopathy characterized by paradoxical myotonia, cold sensitivity, and exercise/cold‐induced paralysis.
S. Ravaglia, L. Maggi, A. Zito, S. Arceri, P. Gallotti, C. Altamura, J. Desaphy, P. Bernasconi, E. Alfonsi   +8 more
semanticscholar   +2 more sources

Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita [PDF]

Muscle and Nerve, 2008
Contains fulltext : 71197.pdf (Publisher’s version ) (Closed access)In this study we investigated a family with paramyotonia (PC) congenita caused by a Gly1306Val mutation in the voltage-gated sodium-channel gene SCN4A. A previous study
Machiel Zwarts, Dick F Stegeman, Gea Drost   +2 more
exaly   +2 more sources

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ESRA19-0023 Anaesthetic challenges for a rare case of a parturient with paramyotonia congenita and terminal filum lipoma presenting for labour and caesarean section under epidural anaesthesia

Regional anesthesia and pain medicine, 2019
Background and aims Paramyotonia congenita (PMC) is a genetic condition characterized by weakness exacerbated by exercise or cold and is also often associated with potassium-related muscle weakness. Intraspinal filum terminale lipomas can sometimes cause
Ws Siow, A. Chiew
semanticscholar   +1 more source

Open Label Trial of Ranolazine for the Treatment of Paramyotonia Congenita (P3.436)

Neurology, 2018
Objective: To assess the effect of ranolazine in patients with paramyotonia congenita Background: Paramyotonia congenita (PC) is a non-dystrophic myotonic disorder caused by mutations in the SCN4A gene.
S. Lorusso, D. Kline, A. Bartlett, Julie Agriesti, M. Freimer, M. Rich, J. Kissel, W. Arnold   +7 more
semanticscholar   +1 more source

Physical Therapy interventions and Response to Treatment in a 13-year-old Female with Paramyotonia Congenita

Archives of Physical Medicine and Rehabilitation, 2022
W. Lake, M. Ricks, Trent Jackman
semanticscholar   +1 more source