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. +4 more
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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 +10 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 +2 more
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Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) [PDF]
, 2012 BACKGROUND: Laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available.
Meinen, Sarina +5 more
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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 +10 more
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Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy [PDF]
, 2012 This work was funded by the Wellcome Trust (grant ID WT078810MA)It is becoming increasingly clear that defects in RNA metabolism can lead to disease. Spinal muscular atrophy (SMA), a leading genetic cause of infant mortality, results from insufficient ...
Clelland, Allyson Kara +2 more
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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 +3 more
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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 +21 more
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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
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Artificial restoration of the linkage between laminin and dystroglycan ameliorates the disease progression of MDC1A muscular dystrophy at all stages [PDF]
, 2005 Laminin-α2 deficient congenital muscular dystrophy, classified as MDC1A, is a severe progressive muscle-wasting disease that leads to death in early childhood.
Meinen, Sarina
core +1 more source