Results 61 to 70 of about 466 (135)

Comprehensive Proteomic Analysis of Dysferlinopathy Unveiling Molecular Mechanisms and Biomarkers Linked to Pathological Progression

CNS Neuroscience &Therapeutics, Volume 30, Issue 10, October 2024.
The current study is the first to utilize tandem mass tag (TMT)‐labeled liquid chromatography‐mass spectrometry (LC–MS/MS)‐based proteomics in dysferlinopathy research. The study aimed to explore the proteomic landscape and disease‐related alterations in the muscle tissue proteome of 15 patients with dysferlinopathy with varying degrees of dystrophic ...
Di Wang, Xin‐yi Liu, Qi‐Fang He, Fu‐ze Zheng, Long Chen, Ying Zheng, Ming‐hui Zeng, Yu‐hua Lin, Xin Lin, Hai‐zhu Chen, Min‐ting Lin, Ning Wang, Zhi‐qiang Wang, Feng Lin   +13 more
wiley   +1 more source

Effect of sirolimus on muscle in inclusion body myositis observed with magnetic resonance imaging and spectroscopy

Journal of Cachexia, Sarcopenia and Muscle, Volume 15, Issue 3, Page 1108-1120, June 2024.
Abstract Background Finding sensitive clinical outcome measures has become crucial in natural history studies and therapeutic trials of neuromuscular disorders. Here, we focus on 1‐year longitudinal data from quantitative magnetic resonance imaging (MRI) and phosphorus magnetic resonance spectroscopy (31P MRS) in a placebo‐controlled study of sirolimus
Harmen Reyngoudt, Pierre‐Yves Baudin, Ericky Caldas de Almeida Araújo, Damien Bachasson, Jean‐Marc Boisserie, Kubéraka Mariampillai, Mélanie Annoussamy, Yves Allenbach, Jean‐Yves Hogrel, Pierre G. Carlier, Benjamin Marty, Olivier Benveniste   +11 more
wiley   +1 more source

The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3‐related muscular dystrophy

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, Gerardo Gutiérrez‐Gutiérrez, Agustín Martínez, Cristina Ruiz‐Roldán, Pilar Camaño, Adolfo López de Munain, Amets Sáenz   +6 more
wiley   +1 more source

Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis

Skeletal Muscle, 2017
Background Previous studies in patients with limb-girdle muscular dystrophy type 2A (LGMD2A) have suggested that calpain-3 (CAPN3) mutations result in aberrant regeneration in muscle.
Mehmet E. Yalvac, Jakkrit Amornvit, Cilwyn Braganza, Lei Chen, Syed-Rehan A. Hussain, Kimberly M. Shontz, Chrystal L. Montgomery, Kevin M. Flanigan, Sarah Lewis, Zarife Sahenk   +9 more
doaj   +1 more source

The role of magnetic resonance imaging in diagnosing limb-girdle muscular dystrophy: a descriptive exploratory diagnostic study

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited neuromuscular disorders characterized by progressive weakness of the pelvic and shoulder girdle muscles.
Sara Mohamed Ihab, Khaled Abou Alfotouh Ahmed, Nagia Ali Fahmy, Samia Ashour Helal, Doaa Abdallah Elaidy   +4 more
doaj   +1 more source

Limb-girdle muscular dystrophy in Brazilian children: clinical, histological and molecular characterization

Arquivos de Neuro-Psiquiatria, 2014
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic muscular dystrophies, involving 16 autosomal recessive subtypes and eight autosomal dominant subtypes.
Marco A. Veloso Albuquerque
doaj   +1 more source

Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis

Croatian medical journal, 2005
Calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A) is one autosomal recessive muscular disorder caused by mutations in calpain3 (CAPN3) gene. We report results concerning LGMD2A obtained during 6-year long prospective and on going genetic and epidemiological study of muscular dystrophies in Croatia.
openaire  

Inflammation-Linked Muscle Atrophy in Limb Girdle Muscular Dystrophy R1 (LGMDR1): Insights into Disease Mechanisms. [PDF]

Curr Issues Mol Biol
Banerjee S, Radotra BD, Luthra-Guptasarma M, Goyal MK.   +3 more
europepmc   +1 more source

Calpainopathy in Chile, first cases reported

Neuromuscular Disorders, 2016
Bevilacqua, Jorge, Mathieu, Y., Krahn, M., Bartoli, M., Castiglioni, C., Kleinsteuber Saa, Karin, Díaz Jeraldo, Juan, Puppo, F., Cerino, M., Courrier, S., Gorokhova, S., Miranda Moreno, Natalia, Trangulao, Alejandra, González Hormazábal, Patricio, Avaria Benapres, María de los Angeles, Urtizberea, J., Caviedes Fernández, Pablo, Jara Sosa, Lilian, Levy, N.   +18 more
openaire   +2 more sources

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