Results 71 to 80 of about 92,711 (302)
Association Between Motor Pathway Damage and Motor Deficit in Upper and Lower Limb in People With MS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Corticospinal tract damage is common in people with MS, but the degree of clinical symptoms varies. We hypothesize that corticospinal tract lesions are more extensive and severe in people with MS with motor impairments in both upper and lower limbs.
Mathilde Liffran +13 more
wiley +1 more source
Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy
, 2016 Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with a high incidence and is the most common genetic cause of infant mortality. SMA is primarily characterized by degeneration of the spinal motor neurons that leads to skeletal
Saif Ahmad +7 more
core +1 more source
Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
, 2022 Nucleic acid therapeutics allow sequence-based targeting of disease genes, such as the genes involved in spinal muscular atrophy (SMA) pathogenesis. SMA is a neuromuscular disorder caused by mutations in the survival motor neuron 1 gene (SMN1).
Winkelsas, Audrey
core +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
, 2011 Objective. Use of Denaturing High-Performance Liquid Chromatography ( DHPLC) in prenatal diagnosis of spinal muscular atrophy (SMA). Methods. Thirty-three members of 7 families participated in carrier test and disease detection of SMA.
蕭勝文;鄭博仁;張舜智;林玉婷;洪加政;陳持平;蘇怡寧 +1 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller +14 more
wiley +1 more source
NeurotherapeuticsSpinal muscular atrophy is no longer a leading cause of inherited infant death in the United States. Since 2016, three genetic therapies have been approved for the treatment of spinal muscular atrophy.
Megan A. Waldrop
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Functions and Therapeutic Potentials of Long Noncoding RNA in Skeletal Muscle Atrophy and Dystrophy
Journal of Cachexia, Sarcopenia and MuscleSkeletal muscle is the most abundant tissue in the human body and is responsible for movement, metabolism, energy production and longevity. Muscle atrophy is a frequent complication of several diseases and occurs when protein degradation exceeds protein ...
Yidi Zhang +4 more
doaj +1 more source