Results 41 to 50 of about 258 (116)
Generation of Calpain-3 knock-out porcine embryos by CRISPR-Cas9 electroporation and intracytoplasmic microinjection of oocytes before insemination [PDF]
, 2022 Limb girdle muscular dystrophy type R1 (LGMDR1) is an autosomal recessive myopathy described in humans resulting from a deficiency of calpain-3 protein (CAPN3). This disease lacks effective treatment and an appropriate model, so the generation of KO pigs
Lopéz, Adolfo +6 more
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Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
Annals of Neurology, Volume 89, Issue 5, Page 967-978, May 2021., 2021 Objective Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial design. The Jain Clinical Outcomes Study of Dysferlinopathy aims to establish the validity of the North Star Assessment
Marni B. Jacobs +42 more
wiley +1 more source
US Neurology, 2023 Muscle diseases with prominent limb–joint contractures (LJCs) are a subgroup of rare neuromuscular disorders. Prominent LJCs are not specific to genetic myopathies. Myositis can also induce severe contractures, especially in the late stages. We report the case of a 12-year-old girl with a 3-year history of painful muscular weakness with generalized ...
Ilhem Ben Youssef-Turki +8 more
openaire +1 more source
Whole‐Body MRI in Limb Girdle Muscular Dystrophy Type
, 2022 Introduction/Aim The most common limb girdle muscular dystrophy (LGMD) worldwide is LGMD type R1 (LGMDR1). The aim of this study was to correlate the MRI findings with functional scores and to describe the whole-body MRI (WBMRI) pattern in a LGMDR1 ...
Julio B. Guimarães +24 more
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, 2023 Limb-Girdle Muscular Dystrophy Type R1 (LGMDR1; formerly LGMD2A), characterized by progressive hip and shoulder muscle weakness, is caused by mutations in CAPN3.
Eric P. Hoffman +6 more
core +1 more source
, 2021 Limb–girdle muscular dystrophy type R1 (LGMDR1) is caused by mutations in CAPN3 and is the most common type of recessive LGMD. Even with the use of whole-exome sequencing (WES), only one mutant allele of CAPN3 is found in a significant number of LGMDR ...
Maria J. Rȩdowicz (11561248) +5 more
core +1 more source
, 2021 Limb–girdle muscular dystrophy type R1 (LGMDR1) is caused by mutations in CAPN3 and is the most common type of recessive LGMD. Even with the use of whole-exome sequencing (WES), only one mutant allele of CAPN3 is found in a significant number of LGMDR ...
Maria J. Rȩdowicz (11561248) +5 more
core +1 more source
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
, 2021 Limb–girdle muscular dystrophy type R1 (LGMDR1) is caused by mutations in CAPN3 and is the most common type of recessive LGMD. Even with the use of whole-exome sequencing (WES), only one mutant allele of CAPN3 is found in a significant number of LGMDR ...
Maria J. Rȩdowicz (11561248) +5 more
core +1 more source
Characterization and pharmacological modulation of calcium handling proteins in Limb-Girdle Muscle Dystrophy type R1 [PDF]
, 2021 Páginas 114-122 confidenciales. Tesis completa174 p.-- Tesis censurada 167 p.Limb-girdle muscle dystrophy type R1 (LGMDR1) is the most common form of limb-girdle muscle dystrophy, currently with no effective treatment.
Lasa Elgarresta, Jaione
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