What's new in ... neurogenetics? Focus on neurodegenerative disorders

European Journal of Paediatric Neurology

Volumn 5, Issue 6, 2001, Pages 221-224

  Suri, Mohnish ^a  

^a NOTTINGHAM CITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLIAL FIBRILLARY ACIDIC PROTEIN; HEAT SHOCK PROTEIN; MEMBRANE PROTEIN; PANTOTHENIC ACID;

ALEXANDER DISEASE; ARTICLE; ASTROCYTE; BRAIN BIOPSY; BRAIN SCINTISCANNING; CHILD; COMPUTER ASSISTED TOMOGRAPHY; DEGENERATIVE DISEASE; GENE MUTATION; GENE OVEREXPRESSION; GENETIC CODE; GENETIC DISORDER; HALLERVORDEN SPATZ DISEASE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; LEUKODYSTROPHY; LEUKOENCEPHALOPATHY; MOUSE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PRIORITY JOURNAL; TRANSGENE;

EID: 0035174081     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1053/ejpn.2001.0522     Document Type: Review

References (20)

1. Rosenthal fibers share epitopes with alpha B-crystallin, glial fibrillary acidic protein, and ubiquitin, but not with vimentin. Immunoelectron microscopy with colloidal gold
2. The cytoskeleton and disease: Genetic disorders of intermediate filaments
3. Dysmyelinogenic leukodystrophy. Report of a case of a new, presumably familial, type of leukodystrophy with megalobarencephaly
4. Biopsy diagnosis of familial Alexander's disease
5. Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice
6. Astrocytes cultured from transgenic mice carrying the added human glial fibrillary acidic protein gene contain Rosenthal fibers
7. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease
8. Mutant NDUVF1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
9. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children
10. Vacuolating megalencephalic leuko-encephalopathy in 12 Israeli patients
11. Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study
12. tel
13. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts
14. Hallervorden-Spatz disease: Clinical and MRI study of 11 cases diagnosed in life
15. Clinico-pathological and histochemical studies of Hallervorden-Spatz disease with torsion dystonia with special reference to diagnostic criteria of the disease from the clinico-pathological viewpoint
16. Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13
17. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
18. Pantothenate kinase regulation of the intracellular concentration of Coenzyme A
19. Hallervorden-Spatz disease: Cysteine accumulation and cysteine dioxygenase deficiency in globus pallidus
20. Copper, zinc superoxide dismutase enhances DNA damage and mutagenicity induced by cysteine/iron