Results 31 to 40 of about 207 (93)
NMR in Biomedicine, Volume 35, Issue 12, December 2022., 2022 Quantification errors can occur when a simple mean or median value analysis of the MR biomarker water T2 (T2w) is performed. Because of the two opposite effects that influence T2w in a single voxel—(i) a pathophysiologically increased water mobility (e.g., in edematous changes) leading to T2w elevation, and (ii) a dependency of T2w on the proton ...
Sarah Schlaeger +11 more
wiley +1 more source
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
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
European Journal of Neurology, Volume 32, Issue 9, September 2025.LGMD D3 in Uruguay presents as a slowly progressive adult‐onset scapulo‐pelvic‐peroneal dystrophy. Pathogenic variant c.1132G>C p.(Asp378His) was confirmed in all participants. This is the largest LGMD D3 cluster and first report of sex‐dependent age of onset.
Elisa Demicheli +10 more
wiley +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, Volume 12, Issue 7, Page 1465-1479, July 2025.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.All the LGMDs molecularly confirmed in this study were the ones clinically suspected to be DMD/BMD. Here in this study, we have attempted to understand age at onset in the patients, could be a differentiating factor to distinguish DMD/BMD from other muscular dystrophies.
Priya Karthikeyan +3 more
wiley +1 more source
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
Annals of Clinical and Translational Neurology, Volume 11, Issue 9, Page 2268-2276, September 2024.Abstract Objective Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy.
Shruthi Mohan +29 more
wiley +1 more source
Muscle &Nerve, Volume 69, Issue 4, Page 472-476, April 2024.Abstract Introduction/Aims Limb‐girdle muscular dystrophy R1 (LGMDR1) calpain 3‐related usually presents as a recessively transmitted weakness of proximal limb‐girdle muscles due to pathogenic variants in the CAPN3 gene. Pathogenic variants in this gene have also been found in patients with an autosomal dominantly inherited transmission pattern (LGMDD4)
Andrea Valls +6 more
wiley +1 more source
Generation of new LGMDR1 models with CRISPR/Cas9 and studies to expand insight into the disease.
, 2022 La LGMDR1 es la forma más común de las distrofias musculares de cinturas, y está causada por mutaciones en el gen CAPN3. Este gen codifica la proteína calpaína 3, una proteasa no lisosomal que se expresa principalmente en el músculo esquelético. La enfermedad, que actualmente no tiene cura ni tratamiento disponible, se caracteriza clínicamente por una ...
openaire +1 more source