Literature DB >> 10709611

4th Symposium on Probing Disorders of the White Matter. Abstracts.

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Year:  1999        PMID： 10709611     DOI： 10.1385/jmn:12:3:157

Source DB:  PubMed          Journal:  J Mol Neurosci        ISSN： 0895-8696            Impact factor:   3.444


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  21 in total

1.  Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease.

Authors:  P Leinekugel; S Michel; E Conzelmann; K Sandhoff
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

2.  Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease.

Authors:  N Sakai; K Inui; N Tatsumi; H Fukushima; T Nishigaki; M Taniike; J Nishimoto; H Tsukamoto; I Yanagihara; K Ozono; S Okada
Journal:  J Neurochem       Date:  1996-03       Impact factor: 5.372

3.  Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy.

Authors:  B Hess; P Saftig; D Hartmann; R Coenen; R Lüllmann-Rauch; H H Goebel; M Evers; K von Figura; R D'Hooge; G Nagels; P De Deyn; C Peters; V Gieselmann
Journal:  Proc Natl Acad Sci U S A       Date:  1996-12-10       Impact factor: 11.205

4.  Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice.

Authors:  L Mangiarini; K Sathasivam; M Seller; B Cozens; A Harper; C Hetherington; M Lawton; Y Trottier; H Lehrach; S W Davies; G P Bates
Journal:  Cell       Date:  1996-11-01       Impact factor: 41.582

5.  cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene.

Authors:  C O Sarde; J Thomas; H Sadoulet; J M Garnier; J L Mandel
Journal:  Mamm Genome       Date:  1994-12       Impact factor: 2.957

6.  Structure and location of the murine adrenoleukodystrophy gene.

Authors:  M A Kennedy; S A Rowland; A L Miller; C M Morris; L A Neville; A Dodd; W J Fifield; D R Love
Journal:  Genomics       Date:  1996-03-15       Impact factor: 5.736

7.  The Twitcher mouse: an enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease).

Authors:  T Kobayashi; T Yamanaka; J M Jacobs; F Teixeira; K Suzuki
Journal:  Brain Res       Date:  1980-12-08       Impact factor: 3.252

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

Authors:  Y Q Chen; M A Rafi; G de Gala; D A Wenger
Journal:  Hum Mol Genet       Date:  1993-11       Impact factor: 6.150

9.  Globoid cell leukodystrophy: additional deficiency of psychosine galactosidase.

Authors:  T Miyatake; K Suzuki
Journal:  Biochem Biophys Res Commun       Date:  1972-08-07       Impact factor: 3.575
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