Results 71 to 80 of about 189,433 (365)
Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano +15 more
wiley +1 more source
Diagnostic histochemistry and clinical-pathological testings as molecular pathways to pathogenesis and treatment of the ageing neuromuscular system: a personal view [PDF]
, 2015 Ageing of the neuromuscular system in elderhood ingravescently contributes to slowness, weakness, falling and death, often accompanied by numbness and pain.
Engel, W. King
core +1 more source
Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects
Brain Sciences, 2020 Hereditary amyloid transthyretin (ATTRv) amyloidosis with polyneuropathy is a progressive disease that is transmitted as an autosomal dominant trait and characterized by multiple organ failure, including axonal sensory-motor neuropathy, cardiac ...
Massimo Russo +5 more
doaj +1 more source
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
Review: Dystroglycan in the Nervous System [PDF]
, 2007 Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core +2 more sources
Disease Models & Mechanisms, 2020 Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's Disease, is a late-onset X-linked progressive neuromuscular disease, which predominantly affects males.
Anna L. Gray +6 more
doaj +1 more source
Scientific Reports, 2021 Individuals who have Down syndrome (caused by trisomy of chromosome 21), have a greatly elevated risk of early-onset Alzheimer’s disease, in which amyloid-β accumulates in the brain. Amyloid-β is a product of the chromosome 21 gene APP (amyloid precursor
Justin L. Tosh +12 more
doaj +1 more source
Visual Motion Imagery Classification with Deep Neural Network based on Functional Connectivity [PDF]
arXiv, 2021 Brain-computer interfaces (BCIs) use brain signals such as electroencephalography to reflect user intention and enable two-way communication between computers and users. BCI technology has recently received much attention in healthcare applications, such as neurorehabilitation and diagnosis. BCI applications can also control external devices using only
arxiv
Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden +15 more
wiley +1 more source
Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients [PDF]
, 2016 Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal ...
Angelini, Lorenzo +37 more
core +1 more source