Results 151 to 160 of about 9,985 (202)
Intracranial calcifications in DEGS1-Related Leukodystrophy: a potentially under-recognised neuroimaging feature. [PDF]
Neurol SciVaia Y +9 more
europepmc +1 more source
POLR3A and POLR3B Mutations in Unclassified Hypomyelination
Neuropediatrics, 2015 This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination.In a cohort of 22 patients with the magnetic resonance imaging (MRI) diagnosis of unclassified hypomyelination and without typical clinical signs, we evaluated clinical and MRI ...
Kether Guerrero +2 more
exaly +6 more sources
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22
Neuromuscular Disorders, 1999 We describe a patient with congenital hypomyelination neuropathy. The pathological and morphometrical findings in the sural nerve biopsy were consistent with a defect of myelin formation and maintenance.
T Cavallaro, M Morbin, G M Fabrizi
exaly +3 more sources
Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy
Neuropediatrics, 2007 We present four children, three of them boys, affected with an identical clinical pattern consisting of early-onset ataxia, delayed dentition, hypomyelination and cerebellar atrophy.
Dietz Rating, F Ebinger
exaly +2 more sources
Bovine viral diarrhoea virus 1b infection associated with congenital tremor and hypomyelination in Holstein calves [PDF]
Veterinary Microbiology, 2021 Hypomyelination is a rare consequence of in utero bovine viral diarrhoea virus (BVDV) infection. We describe a BVDV outbreak in a naïve Holstein dairy herd in northern Italy, with an unusually high prevalence of calves with neurological signs ...
Cord Drögemüller +2 more
exaly +2 more sources
More than hypomyelination in Pol-III disorder. [PDF]
Journal of Neuropathology and Experimental Neurology, 2013 The 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism) is a newly recognized leukodystrophy. The classical form is characterized by the association of hypomyelination, abnormal dentition, and hypogonadotropic hypogonadism, but the ...
Davide Tonduti +2 more
exaly +2 more sources
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Hypomyelination in Weimaraner dogs
Acta Neuropathologica, 1987Dogs from two separate litters of Weimaraners developed tremors by 3 weeks of age. Light and electron microscopic findings in one dog from each of the litters were compared to those of two age-matched controls. Many axons in the brain and spinal cord were either thinly myelinated or nonmyelinated in the affected dogs relative to the controls, while the
J N, Kornegay +2 more
openaire +2 more sources
Congenital hypomyelination with axonopathy
European Journal of Pediatrics, 1989We report a case of congenital neuropathy taking a rapidly fatal clinical course. Ultrastructural features of the peripheral nerve were unusual with sparsity of myelinated fibres, lack of "onion bulb" formation and presence of axonal damage. This case is compared with previously reported cases of early infantile neuropathy.
A, Vital +4 more
openaire +2 more sources