Results 101 to 110 of about 9,985 (202)

Congenital hypomyelinating neuropathy.

Indian pediatrics, 2004
An eleven-month-old baby born out of non-consanguineous parentage presented with history of delayed motor milestones. The weakness was predominantly distal; there was intercostal muscle weakness, generalized hypotonia and areflexia. The nerve conduction velocities were unobtainable in all the four limbs.
S R, Chandra, D, Kalpana, V V, Radhakrishnan, S R Srinivasa, Kannan   +3 more
openaire   +1 more source

Multimodality neuroimaging findings in chromosome 18p deletion extending to 18q12.3: MRI features of developmental white matter abnormality suggestive of hypomyelination

Egyptian Pediatric Association Gazette
Chromosome 18 deletions are rare genomic disorders associated with heterogeneous neurologic and structural abnormalities. Neuroimaging findings in deletions extending from the short arm into the proximal long arm remain incompletely characterized.
Ido Narpati Bramantya, Ratna Sutanto, Fernando Wijaya, Gilbert Sterling Octavius   +3 more
doaj   +1 more source

Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder

, 2008
BACKGROUND AND PURPOSE: Hypomyelination and congenital cataract (HCC) is an autosomal recessive white matter disease caused by deficiency of hyccin, a membrane protein implicated in both central and peripheral myelination.
Uziel, G., van der Knaap, M.S., Biancheri, R., Zara, F., Rossi, A., Bruno, C., Minetti, C., Tortori-Donati, P., van der Knaap, M. S.   +8 more
core   +1 more source

Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders.

, 2006
Hypomyelinating leukoencephalopathies may be related to a primary disturbance in the formation of myelin or may be caused by neuronal, oligodendrocytic or astrocytic dysfunction, leading to a failure of myelination.
ALLEGRI AE, TORTORI DONATI P, FILOCAMO M, PESSAGNO A, ROSSI A, DI ROCCO M, PARENTI, GIANCARLO, MINETTI C, BIANCHERI R.   +8 more
core  

Congenital Hypomyelination Neuropathy in a Lamb [PDF]

Veterinary Pathology, 1993
K G, Braund, W K, Scarratt, J M, Vallat, M, Toivio-Kinnucan, H D, Moll   +4 more
openaire   +2 more sources

Neurochemistry of Hypomyelination Investigated with MR Spectroscopy

Magnetic Resonance in Medical Sciences, 2015
Proton magnetic resonance spectroscopy (MRS) allows the noninvasive exploration of tissue metabolism in vivo, providing neurophysiological and neurochemical information. N-acetylaspartate (NAA) is generally considered to be a marker of neurons and axons, and many neurodegenerative disorders, including demyelinating disorders, exhibit a decrease in ...
openaire   +3 more sources

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome [PDF]

, 2020
openaire   +1 more source

Nucleotide Excision Repair (NER) Disorders as differential diagnosis in isolated hypomyelination

Xeroderma pigmentosum (XP), Cockayne Syndrome (CS), and Trichothiodystrophy (TTD) belong to the group of Nucleotide Excision Repair (NER) disorders. Deficiencies in NER typically result in a heterogeneous phenotypic spectrum characterized by extreme ...
Davide Tonduti., Ylenia Vaia, Francesco Gavazzi, Adeline Vanderver   +3 more
core   +2 more sources

Neurocentric No More? Oligodendrocyte Dysfunction Supports Epileptogenesis. [PDF]

Epilepsy Curr
Miller-Oskolkoff GB, Patel MK.
europepmc   +1 more source

Novel <i>TMEM63A</i> mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports. [PDF]

World J Clin Pediatr
Chanvanichtrakool M, Kulsirichawaroj P, Jaito W, Pho-Iam T, Kamolvisit W, Likasitwattanakul S.   +5 more
europepmc   +1 more source