Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]
, 2015 Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania +4 more
core +2 more sources
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
doaj +1 more source
Are mice good models for human neuromuscular disease? Comparing muscle excursions in walking between mice and humans [PDF]
, 2017 The mouse is one of the most widely used animal models to study neuromuscular diseases and test new therapeutic strategies. However, findings from successful pre-clinical studies using mouse models frequently fail to translate to humans due to various ...
A De Luca +81 more
core +3 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 +10 more
doaj +1 more source
A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]
, 2012 Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Arnold, Anne-Sophie +2 more
core +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 +10 more
doaj +1 more source
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
doaj +1 more source
Treatment of Muscle Injury with Stem Cells – Experimental Study in Rabbits [PDF]
Revista Brasileira de Ortopedia, 2022 Objective Histological and macroscopic evaluation of the healing process of acute lesions of the femoral rectus muscle using stem cells derived from adipose tissue-derived stem cells (ADSCs).
Alex de Lima Santos +6 more
doaj +1 more source
Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. [PDF]
, 2018 Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field.
A. (2018)., +10 more
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Intravesical bacillus Calmette–Guérin-induced myopathy presenting as rhabdomyolysis: a case report [PDF]
Journal of Yeungnam Medical Science, 2023 Intravesical bacillus Calmette–Guérin (BCG) instillation is an adjuvant treatment for non–muscle-invasive urinary bladder cancer. Although most complications associated with BCG immunotherapy are mild and self-limiting, rare albeit serious complications ...
Chae Hun Lee +7 more
doaj +1 more source