Results 81 to 90 of about 16,504 (255)

A Clinical Study Shows Safety and Efficacy of Autologous Bone Marrow Mononuclear Cell Therapy to Improve Quality of Life in Muscular Dystrophy Patients

Cell Transplantation, 2013
Muscular dystrophy is a genetic disorder with no definite cure. A study was carried out on 150 patients diagnosed with muscular dystrophy. These included Duchenne muscular dystrophy, limb-girdle muscular dystrophy, and Becker muscular dystrophy variants.
Alok Sharma M.S., M.Ch., Hemangi Sane, Prerna Badhe, Nandini Gokulchandran, Pooja Kulkarni, Mamta Lohiya, Hema Biju, V. C. Jacob   +7 more
doaj   +1 more source

Prenatal muscle development in a mouse model for the secondary dystroglycanopathies [PDF]

, 2016
The defective glycosylation of α-dystroglycan is associated with a group of muscular dystrophies that are collectively referred to as the secondary dystroglycanopathies.
A Leschziner, A Matsakas, A Yoshida, AM Beedle, AR Raphael, B Xia, B-V BD de, C Godfrey, C Longman, C Whitmore, CA Schneider, D Merrick, D Montarras, DE Michele, DJ Blake, DJ Lefeber, E Hohenester, E Stevens, F Muntoni, H Yin, J Reeuwijk van, J Ross, JB Miller, K Buysse, K Kobayashi, KM Wright, KP Campbell, L Wells, M Brockington, M Brockington, M Kanagawa, M Kanagawa, M Narusawa, M Ontell, MD Henry, MJ Duxson, MM Goddeeris, MR Ackroyd, MR Ackroyd, O Armand, S Chan, S Cirak, S Costanzo Di, S Sato, S Schiaffino, S Sugita, SC Brown, T Roscioli, T Willer, TJ Hawke   +49 more
core   +1 more source

The Effect of Anti‐3‐Hydroxy‐3‐Methylglutaryl‐CoA Reductase (HMGCR) Human Autoantibodies on Muscle Regeneration in Mice

Muscle &Nerve, Volume 72, Issue 6, Page 1300-1308, December 2025.
ABSTRACT Introduction/Aims Anti‐3‐hydroxy‐3‐methylglutaryl‐CoA reductase (HMGCR) autoantibodies (aAbs) are pathogenic in immune‐mediated necrotizing myopathy (IMNM), partly through complement activation. C5 inhibition did not restore muscle strength in mice or patients with overt IMNM, suggesting additional pathogenic mechanisms.
Sarah Julien, Honorine Tomasevic, Thara Jaworski, Rachid Zoubairi, Jeremie Martinet, Laurent Drouot, Olivier Boyer   +6 more
wiley   +1 more source

Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies

Annals of Clinical and Translational Neurology
Objective Several neuromuscular disorders (NMDs) are characterized by progressive muscle damage and are marked by the elevation of circulating muscle proteins from activity‐related injury.
Mads G. Stemmerik, Benjamin Barthel, Nanna R. Andersen, Sofie V. Skriver, Alan J. Russell, John Vissing   +5 more
doaj   +1 more source

Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature

Нервно-мышечные болезни, 2015
The Russian literature gives inadequate attention to the problem of one of the most common form of autosomal recessive progressive limb-girdle muscular dystrophies type 2A (LGMD2A) (calpainopathy). This paper highlights current views on the physiological
D. A. Grishina, N. A. Suponeva, V. V. Shvedkov, A. V. Belopasova   +3 more
doaj   +1 more source

Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy [PDF]

, 2010
Background. The administration of rituximab (RTX) in vivo results in B-cell depletion, but evidence for multiple mechanisms of action have been reported.
Alberto Lerario, Chiara Marchesi, Filippo Cogiamanian, Laura Porretti, Marzia Belicchi, Nereo Bresolin, Yvan Torrente   +6 more
core   +3 more sources

A bioinformatic analysis of gene editing off‐target loci altered by common polymorphisms, using ‘PopOff’

Journal of the Royal Society of New Zealand, Volume 55, Issue 6, Page 2440-2463, December 2025.
ABSTRACT Gene editing therapies are designed to minimise off‐target editing. However, it is not widespread practice for common polymorphisms to be considered when identifying potential off‐target sites in silico. Nevertheless, genetic variants should be included as they have the potential to alter existing, or to generate new, off‐target sites.
Christopher Samson, Alex du Rand, John Hunt, Whitney Whitford, Jessie Jacobsen, Hilary Sheppard   +5 more
wiley   +1 more source

Essential neuromuscular advice for pathologists: Limb Girdle Muscular Dystrophy (second of two parts)

Surgical and Experimental Pathology
Background Limb Girdle Muscular Dystrophy is defined as a group of progressive autosomal recessive (85%, 28 genes) and autosomal dominant (15%, 5 genes) muscular dystrophies described in at least two unrelated families, affecting individuals that achieve
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Julio Salgado Antunes, Francineide Sadala de Souza, Heveline Becker de Moura, Andreia Portilho de Brito Pinto, Jaquelin Valicek, Monica Machado Navarro, Frederico Godinho, Eni Braga da Silveira, Maria Isabel Lima, Bruno Arrivabene Cordeiro, Alexandre Faleiros Cauhi, Miriam Melo Menezes, Simone Vilela Nunes-Neves, Antonio Pedro Vargas, Rafael Xavier da-Silva-Neto, Renata Lobo Giron, Cynthia Costa-e-Silva, Reinaldo Issao Takata, Julia Filardi Paim   +21 more
doaj   +1 more source

The impact of molecular biology on clinical neurology. [PDF]

, 2001
Advances in molecular biology have increased our understanding of both inherited and sporadic forms of neurological disease. In this review, the impact of these advances is discussed in relation to specific neurological conditions.
Ho, SL, Mak, W
core  

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD [PDF]

, 2015
Background: Facioscapulohumeral dystrophy (FSHD) is commonly associated with contraction of the D4Z4 macro-satellite repeat on chromosome 4q35 (FSHD1) or mutations in the SMCHD1 gene (FSHD2).
B Mifsud, C Huichalaf, C Wijmenga, E Lieberman-Aiden, I Dunham, J Dekker, J Winston, KS Pollard, L Daxinger, LM Hartweck, M Larsen, M Richards, M Upadhyaya, MP Creyghton, N Harmston, R Andersson, RE Thurman, RJ Lemmers, RJ Lemmers, RJ Lemmers, S Bhatia, S Sacconi, SE Hamby, SS Rao, TI Jones, W Zeng, Z Yao   +26 more
core   +2 more sources