Case definition and classification of leukodystrophies and leukoencephalopathies.
about
Gene therapy for metachromatic leukodystrophy.The many faces of paediatric mitochondrial disease on neuroimaging.Clinical and genetic characterization of leukoencephalopathies in adults.Defining Feasibility and Pilot Studies in Preparation for Randomised Controlled Trials: Development of a Conceptual Framework.Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectDisease specific therapies in leukodystrophies and leukoencephalopathies.A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesA Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic DefectsDiversity Matters: A Revised Guide to Myelination.PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease.Glial progenitor cell-based treatment of the childhood leukodystrophies.Whole exome sequencing in patients with white matter abnormalities.Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo.Emerging treatments for pediatric leukodystrophies.Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study.Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.Stem cell therapy for white matter disorders: don't forget the microenvironment!Treatable Leukoencephalopathy in a Patient with Hypophosphatemia.White matter involvement in a family with a novel PDGFB mutation.Unusual brain images of a boy with adolescent cerebral X-linked adrenoleukodystrophy presenting with exhibitionism: A CARE-compliant case report.Genetic dissection of oligodendroglial and neuronal Plp1 function in a novel mouse model of spastic paraplegia type 2.Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System.Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.Canine NAPEPLD-associated models of human myelin disorders.Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.Leukodystrophies: Five new things.Encephalopathies with intracranial calcification in children: clinical and genetic characterization
P2860
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P2860
Case definition and classification of leukodystrophies and leukoencephalopathies.
description
2015 nî lūn-bûn
@nan
2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Case definition and classification of leukodystrophies and leukoencephalopathies.
@ast
Case definition and classification of leukodystrophies and leukoencephalopathies.
@en
type
label
Case definition and classification of leukodystrophies and leukoencephalopathies.
@ast
Case definition and classification of leukodystrophies and leukoencephalopathies.
@en
prefLabel
Case definition and classification of leukodystrophies and leukoencephalopathies.
@ast
Case definition and classification of leukodystrophies and leukoencephalopathies.
@en
P2093
P2860
P50
P1476
Case definition and classification of leukodystrophies and leukoencephalopathies.
@en
P2093
Adeline Vanderver
Diana Rodriguez
Fanny Mochel
Florian Eichler
GLIA Consortium
Heather M Hussey
James Garbern
Johan L K Van Hove
Johanna Schmidt
Marjo S van der Knaap
P2860
P304
P356
10.1016/J.YMGME.2015.01.006
P577
2015-01-29T00:00:00Z