Results 101 to 110 of about 11,986 (188)

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.: Recessive Mutations in RYR1 Cause CFTD

, 2010
International audienceThe main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers.
Farrell, Michael, A., Marty, Isabelle, Cooper, Sandra, T., Bushby, Kate, Perry, Margaret, Muntoni, Francesco, Straub, Volker, Smith, Robert, L. L., Clarke, Nigel, F., Kornberg, Andrew, J., Lillis, Suzanne, North, Kathryn, N., Waddell, Leigh, B., Guglieri, Michela, Lunardi, Joel, King, Mary, D., Monnier, Nicole, North, Kathryn,, Waddell, Leigh,, Farrell, Michael,, Kornberg, Andrew,, Cooper, Sandra,, Clarke, Nigel,, King, Mary,, Smith, Robert,   +24 more
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Déchiffrement de variant de significations inconnues du Gène RYR1 : Classification IA de RYR1

The Ryanodine Receptor 1 (RyR1) is a crucial calcium channel in skeletal muscle function, associated to the exit of Calcium outside of the Sarcoplasmic Reticulum, essential during the muscle contraction.
Debbah, Nagi
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RYR1 Gene [PDF]

, 2020
openaire   +1 more source

RYR1-Related Myopathies and Anesthesiological Implications.

, 2014
Sequence variations in the RYR1 gene encoding the skeletal muscle sarcoplasmic reticulum calcium release channel are the cause of malignant hyperthermia susceptibility and of several myopathies.
CARSANA, ANTONELLA
core  

RYR 1 Gene Mutation in Motor Neuron Disease: A 10-Year Case Observation

Case Reports in Neurological Medicine
Motor neuron diseases (MND) are a group of rare, often severe, and life-limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions.
Andreas Posa, Malte Kornhuber
doaj   +1 more source

The effect of calpastatin polymorphism and its interaction with RYR1 genotypes on carcass and meat quality of crossbred pigs

Agricultural and Food Science, 2008
The aim of the study was to establish the relationship between a calpastatin gene (CAST) polymorphism, the ryanodine receptor gene (RYR1) polymorphism and carcass/meat quality traits in crossbred pigs. No significant differences in the analyzed pigs were
A. RYBARCZYK, M. KMIEC, R. SZARUGA
doaj  

Ligand-induced activation of RyR1 in native membranes. [PDF]

Nat Commun
Mikirtumov V, Golusik S, Huo R, Sprink T, Balyschew N, Yang W, Diebolder C, Yuan S, Kotecha A, Kudryashev M.   +9 more
europepmc   +1 more source

RYR1 wt Allele [PDF]

, 2020
openaire   +1 more source

Treatments for RYR1-related disorders

Objectives: This is a protocol for a Cochrane Review (intervention). The objectives are as follows:. Primary objective To analyse the benefits and harms of pharmacological or other interventions (e.g.
Dowling, J, Baranello, G, Servais, L, Wilmshurst, J, Voermans, N, Tillema, A, Raga, S, Perez-Neri, I, Jungbluth, H   +8 more
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Structural basis for rosuvastatin-induced activation of skeletal muscle ryanodine receptor 1. [PDF]

Nat Commun
Weninger G, Reiken S, Yuan Q, Miotto MC, Chang A, Liu Y, Wronska A, Dridi H, Marks AR.   +8 more
europepmc   +1 more source