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Childhood Ataxia with Central Nervous System Hypomyelinization

Known as: Cree Leukoencephalopathies, CACH VWM Syndrome, Cree Leukoencephalopathy 
A rare, progressive neurological disorder inherited in an autosomal recessive pattern. It is caused by mutations in the EIF2B1, EIF2B2, EIF2B3… 
National Institutes of Health

Related topics

Related topics

21 relations
ApathyAutosomal recessive inheritanceBrainCentral Nervous System

Papers overview

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Highly Cited
2010
Highly Cited
2010
An evaluation of echo in life support (ELS): is it feasible? What does it add?
Background Emergency physicians were trained to perform echo in life support (ELS)—that is, limited transthoracic… 
Highly Cited
2009
Highly Cited
2009
Heterotic ℤ6–II MSSM orbifolds in blowup
Heterotic orbifolds provide promising constructions of MSSM-like models in string theory. We investigate the connection of such… 
2006
2006
Clinical and genetic associations with hypertriglyceridemic waist in a Canadian aboriginal population
Objectives:To determine the prevalence of ‘hypertriglyceridemic waist’ (HTGW) in Oji-Cree, to examine its interaction with… 
Highly Cited
2005
Highly Cited
2005
Systematic analysis of axonal damage and inflammatory response in different white matter tracts of acutely injured rat spinal cord
Highly Cited
2004
Highly Cited
2004
Structure of the Catalytic Fragment of Translation Initiation Factor 2B and Identification of a Critically Important Catalytic Residue*
Eukaryotic initiation factor (eIF) 2B catalyzes the nucleotide activation of eIF2 to its active GTP-bound state. The exchange… 
Highly Cited
2003
Highly Cited
2003
VEGF expression by ganglion cells in central retina before formation of the foveal depression in monkey retina: Evidence of developmental hypoxia
In macaque monkeys the foveal depression forms between fetal day (Fd) 105 and birth (Fd 172 of gestation). Before this, the… 
Highly Cited
1997
Highly Cited
1997
Significance of Intestinal Metaplasia in Different Areas of Esophagus Including Esophagogastric Junction
Over the past two decades, the incidence ofadenocarcinoma of the esophagus and gastric cardia hasincreased at a rate exceeding… 
Review
1996
Review
1996
Japanese Sentence Processing
Contents: Preface. R. Mazuka, N. Nagai, Japanese Sentence Processing: An Interdisciplinary Approach. A. Inoue, J.D. Fodor… 
1988
1988
Conservation of Hawaii's Vanishing Avifauna Hawaiian birds provide one of the best, and most spectacular, showcases of divergent evolution
1982
1982
Variation in enzyme digestibility and gelatinization behavior of corn starch granule fractions
Dent, waxy, and Amylomaize V and VII starches that were fractionated according to granule size and found to vary in amylose… 
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