(Q30628463)

25 June 2017

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title

Update on genetic disorders affecting white matter (English)

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25 June 2017

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Kaye EM

1

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25 June 2017

1 January 2001

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25 June 2017

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25 June 2017

24

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25 June 2017

1

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25 June 2017

11-24

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Bronzekrankheit und sklerosierende Encephalomyelitis

25 June 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Fatty acid abnormality in adrenoleukodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Role of very-long-chain acyl-coenzyme A synthetase in X-linked adrenoleukodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

X-linked adrenoleukodystrophy: genes, mutations, and phenotypes

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Adrenoleukodystrophy protein enhances association of very long-chain acyl-coenzyme A synthetase with the peroxisome

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Mutational analysis and the pathogenesis of variant X-linked adrenoleukodystrophy phenotypes

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

A two-year trial of oleic and erucic acids ("Lorenzo's oil") as treatment for adrenomyeloneuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

MRI and CT findings in Krabbe disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Late-Onset Krabbe Disease (Globoid Cell Leukodystrophy): Clinical and Biochemical Features of 15 Cases

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

STUDIES IN GLOBOID (KRABBE) LEUKODYSTROPHY. II. CONTROLLED THIN-LAYER CHROMATOGRAPHIC STUDIES OF GLOBOID BODY FRACTIONS IN SEVEN PATIENTS

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Twenty five years of the "psychosine hypothesis": a personal perspective of its history and present status

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Structure and organization of the human galactocerebrosidase (GALC) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Metachromatic leucodystrophy: review of 38 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Characteristics of the dementia in late-onset metachromatic leukodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Metachromatic leukodystrophy: molecular genetics and an animal model

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Sphingolipid hydrolases and activator proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Carrier detection for Sjögren-Larsson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

MRI of white matter changes in the Sjögren-Larsson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Cerebral MRI and spectroscopy in Sjögren-Larsson syndrome: case report

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Ichthyosis in the Sjögren-Larsson syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Specific changes in the fundus typical for the Sjögren-Larsson syndrome. An ophthalmological study of 35 patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Magnetic resonance imaging of the brain and spinal cord in cerebrotendinous xanthomatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Treatment and follow-up of children with cerebrotendinous xanthomatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

PELIZAEUS-MERZBACHER DISEASE. A STUDY IN NOSOLOGY

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Inborn errors and demyelination: MRI and the diagnosis of white matter disease

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studies

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Proteolipid protein is necessary in peripheral as well as central myelin.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

SCHILDER'S ENCEPHALITIS PERIAXIALIS DIFFUSA

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Canavan disease: biochemical and molecular studies

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Spongy degeneration of the central nervous system (Van Bogaert and Bertrand type; Canavan's disease)A review

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Canavan disease: molecular basis of aspartoacylase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Canavan disease: from spongy degeneration to molecular analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Prenatal diagnosis of Canavan disease

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Gene trial in New Zealand.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

The phenotypic spectrum of CADASIL: clinical findings in 102 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Patterns of MRI lesions in CADASIL.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

CADASIL in a North American family: clinical, pathologic, and radiologic findings.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Childhood ataxia with diffuse central nervous system hypomyelination.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

A new leukoencephalopathy with vanishing white matter.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Increased Cerebrospinal Fluid Glycine: A Biochemical Marker for a Leukoencephalopathy With Vanishing White Matter

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Phenotypic variation in leukoencephalopathy with vanishing white matter

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Megalencephaly with dysmyelination, spasticity, ataxia, seizures and distinctive neurophysiological findings in two siblings

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Increased intracranial pressure in Alexander disease: a rare presentation of white-matter disease

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Alexander's disease: A report and reappraisal

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Alexander's disease. A disease of astrocytes.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Adolescent case of Alexander disease: MR imaging and MR spectroscopy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

Chromosome 11q23.3-qter deletion and Alexander disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900232-0

7 January 2021

10.1016/S0887-8994(00)00232-0

Identifiers

DOI

1 reference

25 June 2017

1 reference

PubMed ID

11182276