Results 91 to 100 of about 840,189 (237)
, 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
Journal of the Science of Food and Agriculture, EarlyView.Abstract Since the early 1960s, nanotechnology has been a critical area of science, allowing for the development of sophisticated nanomaterials. Nanofibers, one of the most widely used nanotechnological drug delivery systems, have emerged as a highly versatile platform within modern pharmaceutical sciences.
Heybet Kerem Polat +7 more
wiley +1 more source
ZPR1-Dependent Neurodegeneration Is Mediated by the JNK Signaling Pathway
Journal of Experimental Neuroscience, 2019 The zinc finger protein ZPR1 deficiency causes neurodegeneration and results in a mild spinal muscular atrophy (SMA)-like disease in mice with reduced Zpr1 gene dosage. Mutation of the survival motor neuron 1 ( SMN1 ) gene causes SMA.
Xiaoting Jiang +2 more
doaj +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider +3 more
wiley +1 more source
Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series
Frontiers in GeneticsSpinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by mutations in SMN1, with disease severity influenced by the number of SMN2 copies.
Kakha Bregvadze +13 more
doaj +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
Movement Disorders, EarlyView.Abstract Background Despite widespread cortical involvement in Lewy body diseases, conventional gray matter magnetic resonance imaging (MRI) shows limited sensitivity. Diffusion‐weighted MRI‐derived microstructural measures have shown utility in Alzheimer's disease, but their application across the Lewy body disease spectrum remains limited ...
Angeliki Zarkali +9 more
wiley +1 more source
Navigating the Complexity: A Comprehensive Review of GSK‐3 Inhibition in Regenerative Medicine
Medicinal Research Reviews, EarlyView.ABSTRACT Glycogen synthase kinase‐3 (GSK‐3) is a central regulator of numerous cellular signaling pathways, with critical roles in metabolism, proliferation, differentiation, and tissue regeneration. This review explores the multifaceted effects of pharmacological GSK‐3 inhibition across multiple body districts, focusing on its highly context‐dependent
Davide Schiroli +5 more
wiley +1 more source
The role of experiential knowledge in the reproductive decision making of families genetically at risk : the case of spinal muscular atrophy [PDF]
This study reports on the analysis of 59 in-depth interviews conducted with people diagnosed with, or from families affected by, Spinal Muscular Atrophy (SMA).
Boardman, Felicity K.
core
Muscle &Nerve, EarlyView.ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles +5 more
wiley +1 more source