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Childhood Ataxia with Central Nervous System Hypomyelinization
Known as:
Cree Leukoencephalopathies
, CACH VWM Syndrome
, Cree Leukoencephalopathy
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A rare, progressive neurological disorder inherited in an autosomal recessive pattern. It is caused by mutations in the EIF2B1, EIF2B2, EIF2B3…
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National Institutes of Health
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Related topics
Related topics
21 relations
Apathy
Autosomal recessive inheritance
Brain
Central Nervous System
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
An evaluation of echo in life support (ELS): is it feasible? What does it add?
C. Hayhurst
,
C. Lebus
,
+5 authors
D. Lewis
Emergency Medicine Journal
2010
Corpus ID: 9739589
Background Emergency physicians were trained to perform echo in life support (ELS)—that is, limited transthoracic…
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Highly Cited
2009
Highly Cited
2009
Heterotic ℤ6–II MSSM orbifolds in blowup
S. G. Nibbelink
,
J. Held
,
Fabian Ruehle
,
M. Trapletti
,
P. Vaudrevange
2009
Corpus ID: 14860242
Heterotic orbifolds provide promising constructions of MSSM-like models in string theory. We investigate the connection of such…
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2006
2006
Clinical and genetic associations with hypertriglyceridemic waist in a Canadian aboriginal population
R. Pollex
,
A. Hanley
,
B. Zinman
,
S. Harris
,
R. Hegele
International Journal of Obesity
2006
Corpus ID: 9259339
Objectives:To determine the prevalence of ‘hypertriglyceridemic waist’ (HTGW) in Oji-Cree, to examine its interaction with…
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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
W. Gomes-Leal
,
D. Corkill
,
C. W. Picanço-Diniz
Brain Research
2005
Corpus ID: 24841715
Highly Cited
2004
Highly Cited
2004
Structure of the Catalytic Fragment of Translation Initiation Factor 2B and Identification of a Critically Important Catalytic Residue*
T. Boesen
,
S. S. Mohammad
,
G. Pavitt
,
G. Andersen
Journal of Biological Chemistry
2004
Corpus ID: 29111392
Eukaryotic initiation factor (eIF) 2B catalyzes the nucleotide activation of eIF2 to its active GTP-bound state. The exchange…
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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
T. Sandercoe
,
S. Geller
,
A. Hendrickson
,
J. Stone
,
J. Provis
The Journal of comparative neurology
2003
Corpus ID: 36896136
In macaque monkeys the foveal depression forms between fetal day (Fd) 105 and birth (Fd 172 of gestation). Before this, the…
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Highly Cited
1997
Highly Cited
1997
Significance of Intestinal Metaplasia in Different Areas of Esophagus Including Esophagogastric Junction
N. Chalasani
,
J. Wo
,
J. Hunter
,
J. Waring
Digestive Diseases and Sciences
1997
Corpus ID: 26374350
Over the past two decades, the incidence ofadenocarcinoma of the esophagus and gastric cardia hasincreased at a rate exceeding…
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Review
1996
Review
1996
Japanese Sentence Processing
R. Mazuka
,
N. Nagai
1996
Corpus ID: 62804762
Contents: Preface. R. Mazuka, N. Nagai, Japanese Sentence Processing: An Interdisciplinary Approach. A. Inoue, J.D. Fodor…
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1988
1988
Conservation of Hawaii's Vanishing Avifauna Hawaiian birds provide one of the best, and most spectacular, showcases of divergent evolution
J. M. Scott
,
C. Kepler
,
C. Riper
,
S. Fefer
1988
Corpus ID: 53707443
1982
1982
Variation in enzyme digestibility and gelatinization behavior of corn starch granule fractions
C. A. Knutson
,
U. Khoo
,
J. E. Cluskey
,
G. Inglett
1982
Corpus ID: 43941047
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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