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Childhood Ataxia with Cerebral Hypomyelination (CACH) syndrome: a study of three siblings, 07/2004
We report a family of three siblings with Childhood Ataxia with Cerebral Hypomyelination. All the siblings presented with early onset cerebellar ataxia... 
Neurology | Childhood ataxia, hypomyelination, MRI, spectroscopy ni04120
Journal
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 01/2019, Volume 78, Issue 1, pp. 3 - 9
Abstract Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or... 
Leuko-axonopathy | Hypomyelination | Leukodystrophy | TUBB4A | Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) | MUTATIONS | SPECTRUM | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
Vitamins and Hormones, ISSN 0083-6729, 2019, Volume 111, p. 281
Adult oligodendrocyte precursor cells (OPCs) maintain the abilities to differentiate and myelinate denuded axons in demyelinating diseases, such as Multiple... 
Clemastine | Multiple sclerosis | Hypomyelination | OPCs | U-50488 | Demyelination
Journal Article
Brain, ISSN 0006-8950, 09/2017, Volume 140, Issue 9, pp. 2322 - 2336
Journal Article
Journal Article
Movement Disorders, ISSN 0885-3185, 05/2015, Volume 30, Issue 6, pp. 828 - 833
Journal Article
Neurology, ISSN 0028-3878, 2009, Volume 72, Issue 8, pp. 750 - 759
Journal Article
PEDIATRIC NEUROLOGY, ISSN 0887-8994, 01/2014, Volume 50, Issue 1, pp. 112 - 114
BACKGROUND: More than half of patients with genetic leukoencephalopathies remain without a specific diagnosis; this is particularly true in individuals with a... 
KCNT1 | HYPOMYELINATION | delayed myelination | MIGRATING PARTIAL SEIZURES | leukoencephalopathy | PEDIATRICS | INFANCY | CLINICAL NEUROLOGY | myoclonic
Journal Article
Neuropediatrics, ISSN 0174-304X, 04/2019, Volume 50, Issue 2, pp. 130 - 134
Abstract Leukodystrophies are heterogeneous group of genetic white matter disorders with a wide range of neurologic and systemic manifestations. Defects in... 
Short Communication | RARS gene | leukodystrophy | hypomyelination | children | COMPLEX | PEDIATRICS | MUTATIONS | TRANSFER-RNA SYNTHETASES | CLINICAL NEUROLOGY
Journal Article
Experimental Neurology, ISSN 0014-4886, 01/2017, Volume 287, Issue 2, pp. 288 - 297
Neonatal abstinence syndrome (NAS) occurs in babies chronically exposed to opioids during pregnancy. NAS shares features with opioid withdrawal symptoms seen... 
neonatal abstinence syndrome | Ca2+ imaging | in vitro | ventrolateral medulla | hypomyelination | methadone | tolerance | imaging | Neurons | Myelin proteins
Journal Article
Journal of neuropathology and experimental neurology, ISSN 0022-3069, 6/2014, Volume 73, Issue 6, pp. 536 - 547
Hypomyelination is a poorly understood feature of many neurodegenerative lysosomal storage diseases including fucosidosis in children and animals. To gain... 
Fucosidosis | Hypomyelination | Lysosomal storage disease | Oligodendrocytes | Apoptosis
Journal Article
Pediatric Neurology, ISSN 0887-8994, 03/2018, Volume 80, pp. 94 - 95
Journal Article
European journal of medical genetics, ISSN 1769-7212, 07/2019, p. 103732
Pathogenic variants in the BCAP31 gene have recently been associated with a severe congenital neurological phenotype, named DDCH after its key features:... 
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2018, Volume 13, Issue 2, p. e0188869
Journal Article
Annals of Neurology, ISSN 0364-5134, 06/2016, Volume 79, Issue 6, pp. 1031 - 1037
Journal Article
Neuropediatrics, ISSN 0174-304X, 02/2018, Volume 49, Issue 1, pp. 076 - 077
Journal Article