Results 101 to 110 of about 117,570 (300)
Co-cultures with stem cell-derived human sensory neurons reveal regulators of peripheral myelination [PDF]
, 2017 Effective bidirectional signalling between axons and Schwann cells is essential for both the development and maintenance of peripheral nerve function. We have established conditions by which human induced pluripotent stem cell-derived sensory neurons can
Bennett, David L.H. +5 more
core +2 more sources
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden +2 more
wiley +1 more source
Osmotic demyelination syndrome
BMJ, 2005 Patients with chronic alcoholism are commonly admitted to hospital and given intravenous fluids as part of the treatment of alcohol withdrawal. These patients are predisposed to chronic severe hyponatraemia because of a variety of mechanisms including psuedohyponatraemia, hypovolaemia, “beer” potomania syndrome, cerebral salt wasting syndrome, and ...
Rachel, Abbott +3 more
openaire +3 more sources
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Aberrant oligodendroglial-vascular interactions disrupt the blood-brain barrier, triggering CNS inflammation. [PDF]
, 2019 Disruption of the blood-brain barrier (BBB) is critical to initiation and perpetuation of disease in multiple sclerosis (MS). We report an interaction between oligodendroglia and vasculature in MS that distinguishes human white matter injury from normal ...
Baranzini, Sergio E +9 more
core
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
, 2016 Abstract This chapter describes various clues to the diagnosis of multiple sclerosis (MS) based on the history, physical examination and investigation. Red flags that should alert the clinician to an alternative diagnosis are listed. Disorders that may present like MS and lead to erroneous diagnosis are discussed.
Christopher H. Hawkes +2 more
openaire +2 more sources
Stem Cell Reports, 2017 Two populations of oligodendrogenic progenitors co-exist within the corpus callosum (CC) of the adult mouse. Local, parenchymal oligodendrocyte progenitor cells (pOPCs) and progenitors generated in the subependymal zone (SEZ) cytogenic niche.
Ilias Kazanis +6 more
doaj +1 more source
Multiple sclerosis: a practical review for pathologists [PDF]
Journal of Pathology and Translational MedicineMultiple sclerosis (MS) is an immune-mediated demyelinating disorder of the central nervous system. It is a chronic disorder resulting in neurologic dysfunction that is disseminated both in time (multiple discrete episodes) and space (involving multiple ...
Rachel A. Multz +2 more
doaj +1 more source
Combination Therapy With Fingolimod and Neural Stem Cells Promotes Functional Myelination [PDF]
, 2019 Myelination, which occurs predominantly postnatally and continues throughout life, is important for proper neurologic function of the mammalian central nervous system (CNS).
Ciric, Bogoljub +7 more
core +1 more source