Vanishing white matter disease in a spanish population.

scientific article

Vanishing white matter disease in a spanish population. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.4137/JCNSD.S13540
P932PMC publication ID4116383
P698PubMed publication ID25089094
P5875ResearchGate publication ID264502041

P50authorJordi MuchartQ82375673
P2093author name stringEulàlia Turón-Viñas
Marcos Madruga-Garrido
Eduardo López-Laso
Mercè Pineda
Mar O'Callaghan
Luis González Gutiérrez-Solana
Javier Aguirre-Rodríguez
Victòria Cusí
Verónica González-Álvarez
Judith Armstrong-Moron
Concha Sierra-Córcoles
David Conejo Moreno
Naiara Olabarrieta-Hoyos
Rebeca Losada Del Pozo
P2860cites workA severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutationQ24337631
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matterQ28204796
Leukoencephalopathy With Vanishing White Matter: From Magnetic Resonance Imaging Pattern to Five GenesQ28211740
Leukodystrophies: clinical and genetic aspectsQ28296976
Non specific leukodystrophy. A new case of vacuolizing leukoencephalopathy with megalencephalyQ30690781
Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis.Q31027652
Vanishing white matter diseaseQ31037602
Vanishing white matter disease: a review with focus on its geneticsQ31047390
The spectrum of mutations for the diagnosis of vanishing white matter disease.Q31062093
Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter diseaseQ33223118
Vanishing white matter disease associated with ptosis and myoclonic seizuresQ34152320
White matter hyperintensities and self-reported depression in a sample of patients with chronic headacheQ36357119
Leukoencephalopathy With Vanishing White Matter: A ReviewQ37788513
Invited article: an MRI-based approach to the diagnosis of white matter disordersQ41964061
The effect of genotype on the natural history of eIF2B-related leukodystrophiesQ47621860
Childhood ataxia with diffuse central nervous system hypomyelinationQ48163757
Acute fright induces onset of symptoms in vanishing white matter disease-case reportQ48429114
A new leukoencephalopathy with vanishing white matterQ48745750
Late-onset vanishing white matter disease with compound heterozygous EIF2B5 gene mutationsQ48787247
1H chemical shift imaging, MRI, and diffusion-weighted imaging in vanishing white matter diseaseQ48910643
Vanishing white matter disease associated with progressive macrocephaly.Q51700973
Genetic and Clinical Heterogeneity in eIF2B-Related DisorderQ57814452
Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelinationQ71980849
Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopyQ72776535
Phenotypic variation in leukoencephalopathy with vanishing white matterQ77114396
Vanishing white matter disease with periodic (paroxysmal) hemiparesisQ79823929
Dominant form of vanishing white matter-like leukoencephalopathyQ80942372
P304page(s)59-68
P577publication date2014-07-13
P1433published inJournal of Central Nervous System DiseaseQ27724516
P1476titleVanishing white matter disease in a spanish population
P478volume6

Reverse relations

cites work (P2860)
Q92786825Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia
Q27330146Astrocytes are central in the pathomechanisms of vanishing white matter
Q55315497Case Report: Cerebral leukodystrophy and the gonadal endocrinopathy: a rare but real association.

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