Ovarioleukodystrophy due to EIF2B5 mutations.

scientific article published on 20 September 2016

Ovarioleukodystrophy due to EIF2B5 mutations. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/PRACTNEUROL-2016-001382
P698PubMed publication ID27651498

P50authorClaire M RiceQ56516260
Richard Tolulope IbitoyeQ56950896
Neil ScoldingQ79652575
P2093author name stringS A Renowden
H J Faulkner
P2860cites workOvarian failure related to eukaryotic initiation factor 2B mutationsQ24532076
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matterQ28204796
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 geneQ34759653
Eukaryotic initiation factor 2B (eIF2B).Q41686771
Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter diseaseQ44511688
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.Q45922760
Childhood ataxia with diffuse central nervous system hypomyelinationQ48163757
Leukodystrophy in patients with ovarian dysgenesisQ48718493
A new leukoencephalopathy with vanishing white matterQ48745750
A practical approach to diagnosing adult onset leukodystrophiesQ57384500
P433issue6
P921main subjectovarioleukodystrophyQ56014446
P304page(s)496-499
P577publication date2016-09-20
P1433published inPractical NeurologyQ26842253
P1476titleOvarioleukodystrophy due to EIF2B5 mutations
P478volume16

Reverse relations

cites work (P2860)
Q92786825Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia
Q64087306An Autopsy Proven Case of CSF1R-mutant Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) with Premature Ovarian Failure
Q89447884Low EIF2B5 expression predicts poor prognosis in ovarian cancer

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