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OVARIOLEUKODYSTROPHY
Known as:
Vanishing White Matter Leukodystrophy with Ovarian Failure
National Institutes of Health
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Related topics
Related topics
3 relations
EIF2B2, GLU213GLY
Broader (2)
Leukoencephalopathies
Ovarian Diseases
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
AARS2‐related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases
I. Taglia
,
I. Di Donato
,
+7 authors
M. Dotti
Acta Neurologica Scandinavica
2018
Corpus ID: 13674305
Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), previously known as hereditary diffuse…
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2018
2018
Ovarioleukodystrophy: Vanishing white matter versus AARS2-related ovarioleukodystrophy
M. Knaap
,
T. Abbink
Clinical neurology and neurosurgery (Dutch…
2018
Corpus ID: 49597074
2018
2018
Epilepsy and ovarian failure: Two cases of adolescent-onset ovarioleukodystrophy
J. D. Herrera-García
,
Virginia Guillén-Martínez
,
C. Creus-Fernández
,
A. Mínguez-Castellanos
,
C. C. Pardo
Clinical neurology and neurosurgery (Dutch…
2018
Corpus ID: 46789791
2017
2017
Ovarioleukodystrophy in Chinese Han: A case report
Daopei Zhang
,
Q. Ma
,
S. L. Zhang
,
Jian Zhang Li
Clinical neurology and neurosurgery (Dutch…
2017
Corpus ID: 33536939
Review
2016
Review
2016
Ovarioleukodystrophy due to EIF2B5 mutations
R. Ibitoye
,
S. Renowden
,
H. Faulkner
,
N. Scolding
,
C. Rice
Practical Neurology
2016
Corpus ID: 207025290
Ovarioleukodystrophy—the co-occurrence of leukodystrophy and premature ovarian failure—is a rare presentation now recognised to…
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2014
2014
Identification and functional validation of new mtDNA and nuclear gene variants responsible for mitochondrial disorders
Diodato
2014
Corpus ID: 87052309
Progetto svolto presso l'Unita Operativa di Neurogenetica Molecolare presso l'Istituto Neurologico Carlo Besta, Milano.
2011
2011
Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene
I. Imam
,
Jeremy D Brown
,
Philip J Lee
,
P. K. Thomas
,
H. Manji
BMJ Case Reports
2011
Corpus ID: 32470862
The authors present a 28-year-old lady with progressive neurological deterioration beginning in childhood. She had clinical…
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2008
2008
Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor
L. Peter
,
F. Niel
,
+7 authors
F. Mauguière
European Journal of Neurology
2008
Corpus ID: 23140341
Mutations in the eukaryotic translation initiation factor 2B (eIF2B) represent a heterogenous group of autosomal recessive…
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