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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

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
Viability of MSSM scenarios at very large tan β
We investigate the MSSM with very large tan β > 50, where the fermion masses are strongly affected by loop-induced couplings to… 
2008
2008
A Point Mutation in Translation Initiation Factor 2B Leads to a Continuous Hyper Stress State in Oligodendroglial-Derived Cells
Background Mutations in eukaryotic translation initiation factor 2B (eIF2B) cause Childhood Ataxia with CNS Hypomyelination (CACH… 
1999
1999
Hepatocyte nuclear factor-1 alpha G319S. A private mutation in Oji-Cree associated with type 2 diabetes.
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… 
1989
1989
Rickettsial infections of midgut cells are not associated with susceptibility of Glossina morsitans centralis to Trypanosoma congolense infection.
1988
1988
Conservation of Hawaii's Vanishing Avifauna Hawaiian birds provide one of the best, and most spectacular, showcases of divergent evolution
1983
1983
Conditioning factor(s) produced by several molluscan species promote neurite outgrowth in cell culture.
The ability to correlate the behaviour of neurones in intact ganglia with events in isolation as has been shown in the leech… 
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… 
1937
1937
PRIMARY DEMYELINATING PROCESSES OF THE CENTRAL NERVOUS SYSTEM: AN ATTEMPT AT UNIFICATION AND CLASSIFICATION
Since Schilder 1 described in 1912 the first case of encephalitis periaxialis diffusa, considerable attention has been paid by… 
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