Results 21 to 30 of about 2,510,688 (301)

Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages [PDF]

, 2007
Mutations in laminin-alpha2 cause a severe congenital muscular dystrophy, called MDC1A. The two main receptors that interact with laminin-alpha2 are dystroglycan and alpha7beta1 integrin.
Ruegg, M. A., Patrizia Barzaghi, Lochmuller, H., Sarina Meinen, Markus A. Ruegg, Lin, S., Hanns Lochmüller, Shuo Lin, Barzaghi, P., Meinen, S.   +9 more
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Diagnosis of muscular dystrophies at the nanometer scale [PDF]

, 2009
The diagnosis of muscular dystrophies or the assessment of the functional benefit of gene or cell therapies can be difficult, especially for poorly accessible muscles, and it often lacks a single-fiber resolution.
Kuntzer, T., Lekka, M., Kulik, A., Puttini, S., Mermod, N.   +4 more
core   +2 more sources

Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

Orphanet Journal of Rare Diseases, 2021
Background X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth and they often require ...
Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni, Enrico Bertini   +10 more
doaj   +1 more source

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

Italian Journal of Pediatrics, 2021
Background Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language.
Marcello Scala, Midas Anijs, Roberta Battini, Francesca Madia, Valeria Capra, Paolo Scudieri, Alberto Verrotti, Federico Zara, Carlo Minetti, Sonja C. Vernes, Pasquale Striano   +10 more
doaj   +1 more source

Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

Cell Death and Disease, 2023
Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. The cellular and molecular consequences of the lack of dystrophin in
Xavier Suárez-Calvet, Esther Fernández-Simón, Daniel Natera, Cristina Jou, Patricia Pinol-Jurado, Elisa Villalobos, Carlos Ortez, Alexandra Monceau, Marianela Schiava, Anna Codina, José Verdu-Díaz, James Clark, Zoe Laidler, Priyanka Mehra, Rasya Gokul-Nath, Jorge Alonso-Perez, Chiara Marini-Bettolo, Giorgio Tasca, Volker Straub, Michela Guglieri, Andrés Nascimento, Jordi Diaz-Manera   +21 more
doaj   +1 more source

Effectiveness of ischemic compression pressure versus spray and stretch technique in the management of active myofascial trigger points of trapezius muscle.

International Journal of Endorsing Health Science Research, 2021
Background: Now, a days myofascial trigger points are tremendously occurring and become a stressful part of nearly any person at any time in a lifetime. This study compares the effects of ischemic compression pressure with spray and stretch technique to ...
Urooj Khan, Saeed Akhter, Muhammad Khan, Aftab Ahmed Mirza Baig   +3 more
doaj   +1 more source

Musculoskeletal disorders in university professors who telework due to COVID-19 pandemic

Universidad y Salud, 2022
Introduction: Teaching virtually can cause symptoms related to muscle pain due to bad postures when working with computers. Objective: To determine the presence of musculoskeletal disorders in university professors who telework during the COVID-19 ...
Angy Natalia Cristancho, Andrea Almario Barrera, Yeny Castellanos-Domínguez   +2 more
doaj   +1 more source

Todd Paralysis in Rolandic Epilepsy

Pediatric Neurology Briefs, 2015
Investigators from University of Gaziantep, Turkey described the clinical and EEG findings of patients with benign epilepsy of childhood with centrotemporal spikes (BECTS) experiencing postictal Todd paralysis.
Pasquale Striano, Maria Stella Vari
doaj   +1 more source

Redox homeostasis and inflammation in fibroblasts of patients with Friedreich Ataxia: a possible cross talk

Frontiers in Molecular Neuroscience
Redox homeostasis is impaired in Friedreich’s Ataxia (FRDA), a neurodegenerative disease caused by the decreased expression of the mitochondrial protein frataxin.
Andrea Quatrana, Sara Petrillo, Caterina Torda, Eleonora De Santis, Enrico Bertini, Fiorella Piemonte   +5 more
doaj   +1 more source

Dystrophin glycoprotein complex dysfunction:a regulatory link between muscular dystrophy and cancer cachexia [PDF]

, 2005
Cachexia contributes to nearly a third of all cancer deaths, yet the mechanisms underlying skeletal muscle wasting in this syndrome remain poorly defined.
Butchbach, Matthew E R, Burghes, Arthur H M, Guttridge, Denis C, Sahenk, Zarife, Saji, Motoyasu, Acharyya, Swarnali, Ringel, Matthew D, Skipworth, Richard J E, Rafael-Fortney, Jill A, Wang, Huating, Ringel, Matthew D., Hollingsworth, Michael A, Carathers, Micheal, Fearon, Kenneth C H, Butchbach, Matthew E.R., Hollingsworth, Michael A., Muscarella, Peter, Guttridge, Denis C., Rafael-Fortney, Jill A., Skipworth, Richard J.E., Burghes, Arthur H.M., Fearon, Kenneth C.H.   +21 more
core   +1 more source