Results 91 to 100 of about 342,615 (244)
The nicotinic receptor of cochlear hair cells: A possible pharmacotherapeutic target? [PDF]
Mechanosensory hair cells of the organ of Corti transmit information regarding sound to the central nervous system by way of peripheral afferent neurons.
Elgoyhen, Ana Belen +2 more
core +1 more source
ABSTRACT Introduction Spinal cord infarction (SCI) is a rare but devastating myelopathy, characterized by a high disability rate and an unfavorable prognosis. It has often been underdiagnosed and misdiagnosed as idiopathic transverse myelitis (ITM). This study aimed to describe the clinical features, radiological biomarkers, treatments, and functional ...
Zeqiang Ji +13 more
wiley +1 more source
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan +3 more
wiley +1 more source
Background The COVID-19 pandemic substantially affected the lives of persons with inherited neuromuscular disorders (INMD), causing disruption in clinical and support services.
Silvia Sanzo’ +10 more
doaj +1 more source
A primary benign schwannoma of the liver is extremely rare. Only 30 cases have been reported in the medical literature worldwide, and only one case has been reported in Korea previously.
Youn I Choi +9 more
doaj +1 more source
Reduced axonal diameter of peripheral nerve fibres in a mouse model of Rett syndrome [PDF]
Rett syndrome (RTT) is a neurological disorder characterized by motor and cognitive impairment, autonomic dysfunction and a loss of purposeful hand skills.
Bahey, Noha G. +5 more
core +1 more source
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang +10 more
wiley +1 more source
Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations [PDF]
Mfn2, an oligomeric mitochondrial protein important for mitochondrial fusion, is mutated in Charcot-Marie-Tooth disease (CMT) type 2A, a peripheral neuropathy characterized by axonal degeneration.
Chan, David C., Detmer, Scott A.
core +2 more sources
CX3CL1 in Early Detection of Alzheimer's Disease: Plasma Dynamics Across Age and Disease Stages
ABSTRACT Backgrounds Alzheimer's disease (AD) is characterized by amyloid‐beta plaques, tau tangles, and neuroinflammation. C‐X3‐C motif chemokine ligand 1 (CX3CL1, also known as fractalkine), a neuroimmune chemokine implicated in AD pathogenesis, shows inconsistent alterations in plasma/serum across studies.
Ling Wang +6 more
wiley +1 more source
The reproducibility and robustness of many directed differentiation protocols from human induced pluripotent stem cells (hiPSCs) remain low, and the long differentiation induction period significantly limits protocol optimization.
Miki Arai Hojo +4 more
doaj +1 more source

