Results 71 to 80 of about 258 (116)

Determination of Single Nucleotide Polymorphisms (SNPs) in Human CAPN3 Gene by In Silico Analysis

, 2023
ive inherited prevalence ranging from 0.001% to 0.009% cases. It affects approximately30% of LGMD patients and is therefore considered the most common subtype.
Özdemir Özgentürk, Nehir, Aktaş, Emre, Dilemek, Burak, Kayışlı , Güldenur   +3 more
core  

Whole-body magnetic resonance imaging in patients with myopathy related to calpain gene mutations and correlation with clinical and functional data

, 2022
Objetivo: Descrever os achados de ressonância magnética de corpo inteiro (RMCI) em uma coorte brasileira de distrofia muscular de cinturas do tipo R1 (DMCR1) e correlacioná-los com escores funcionais. Métodos: Foram recrutados pacientes com diagnóstico
Aivazoglou, Laís Uyeda [UNIFESP]
core  

Phénotype de rétractions musculaires dans les calpaïnopathies (LGMD-R1 : limp-girdle muscular dystrophy) et corrélations aux génotypes, sur la cohorte réunionnaise

, 2023
Background: The limb-girdle muscular dystrophy with calpain-3 deficiency, also known as calpainopathy or LGMDR1 linked to calpain, is a rare disease (1 to 9 per 100,000) initially discovered on Réunion Island, where there is still much to uncover in ...
Boyer, Léa
core  

Oligomer-dependent and oligomer-independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3. [PDF]

J Biol Chem
Hisatsune C, Shinkai-Ouchi F, Hata S, Ono Y.   +3 more
europepmc   +1 more source

Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness. [PDF]

Neurol Genet
James MK, Iammarino MA, Reash NF, Steiner CL, Knight AB, Smith MA, Moat D, Michell-Sodhi J, Wong KSW, Grover E, Robinson EJ, Mayhew AG, Eagle M, Elseed M, Guglieri M, Straub V, Marini-Bettolo C, Muni-Lofra R, Diaz-Manera J, Lowes LP, Alfano LN.   +20 more
europepmc   +1 more source

Editorial: Muscular dystrophies: Current therapeutic advances to improve and restore muscle homeostasis. [PDF]

Front Cell Dev Biol, 2022
Bargiela A, Hernández-Torres F.
europepmc   +1 more source

New Pharmacological Approaches for Rare Diseases. [PDF]

Int J Mol Sci, 2023
Ortega-Gutiérrez S.
europepmc   +1 more source

Engineering a Cure: Constructing a NonViral Prime Editor for LGMDR1 - Limb Girdle Muscular Dystrophy

This preprint presents a research proposal for a non-viral prime editing therapeutic strategy targeting Limb-girdle muscular dystrophy recessive 1. LGMDR1 is a severely debilitating neuromuscular disorder caused by variations in the CAPN3 gene. Traditional adeno-associated virus gene therapies have struggled with severe safety issues, including fatal ...
openaire   +1 more source

Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods. [PDF]

J Neuromuscul Dis
Bardakov SN, Sorochanu I, Mkrtchyan LA, Slesarenko YS, Tsargush VA, Limaev IS, Isaev AA, Yakovlev IA, Deev RV.   +8 more
europepmc   +1 more source

RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A. [PDF]

Neurol Genet
Wang G, Liu H, Yang G, Gu S, Yan C, Lin P.   +5 more
europepmc   +1 more source