case report | Q2782326 |
scholarly article | Q13442814 |
P50 | author | Jianping Jia | Q42590698 |
P2093 | author name string | Rong Chen | |
Fei Chen | |||
Fen Wang | |||
Qi Qin | |||
Cuibai Wei | |||
Aihong Zhou | |||
Xiumei Zuo | |||
Jihui Lyu | |||
P2860 | cites work | eIF2B-related disorders: antenatal onset and involvement of multiple organs | Q24298049 |
Ovarian failure related to eukaryotic initiation factor 2B mutations | Q24532076 | ||
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter | Q28218053 | ||
Vanishing white matter disease | Q31037602 | ||
Vanishing white matter disease: a review with focus on its genetics | Q31047390 | ||
The spectrum of mutations for the diagnosis of vanishing white matter disease. | Q31062093 | ||
Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation | Q34133006 | ||
Vanishing white matter disease in a spanish population. | Q34432161 | ||
Adult-onset vanishing white matter leukoencephalopathy presenting as psychosis. | Q34624402 | ||
The large spectrum of eIF2B-related diseases | Q36295600 | ||
Leukoencephalopathy With Vanishing White Matter: A Review | Q37788513 | ||
Vanishing white matter disease in French-Canadian patients from Quebec | Q38235618 | ||
Ovarioleukodystrophy due to EIF2B5 mutations. | Q38960319 | ||
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease | Q41355375 | ||
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. | Q44891252 | ||
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. | Q45922760 | ||
Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course. | Q46039775 | ||
The effect of genotype on the natural history of eIF2B-related leukodystrophies | Q47621860 | ||
Childhood ataxia with diffuse central nervous system hypomyelination | Q48163757 | ||
Late onset vanishing white matter disease | Q48221378 | ||
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy | Q48431205 | ||
Leukodystrophy in patients with ovarian dysgenesis | Q48718493 | ||
A new leukoencephalopathy with vanishing white matter | Q48745750 | ||
Late-onset vanishing white matter disease with compound heterozygous EIF2B5 gene mutations | Q48787247 | ||
Genotype–phenotype correlation in vanishing white matter disease | Q51535832 | ||
Case Report: Cerebral leukodystrophy and the gonadal endocrinopathy: a rare but real association. | Q55315497 | ||
A Review of Infantile Vanishing White Matter Disease and A New Mutation | Q57498689 | ||
Genetic and Clinical Heterogeneity in eIF2B-Related Disorder | Q57814452 | ||
A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation | Q57898470 | ||
Histoire naturelle des leucodystrophies avec mutation EIF2B : étude rétrospective multicentrique de 24 cas adultes | Q59186938 | ||
Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy | Q72776535 | ||
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease | Q83214853 | ||
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5 | Q83835227 | ||
Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks | Q84999699 | ||
Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism | Q86901227 | ||
Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor | Q94607226 | ||
P433 | issue | 1 | |
P921 | main subject | Menometrorrhagia | Q3333223 |
P304 | page(s) | 203 | |
P577 | publication date | 2019-08-22 | |
P1433 | published in | BMC Neurology | Q15763734 |
P1476 | title | Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia | |
P478 | volume | 19 |
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