Literature DB >> 7581401

Identification of seven novel mutations associated with metachromatic leukodystrophy.

M L Barth1, A Fensom, A Harris.   

Abstract

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Year:  1995        PMID： 7581401     DOI： 10.1002/humu.1380060210

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  5 in total

1.  Pattern of sequence variation across 213 environmental response genes.

Authors:  Robert J Livingston; Andrew von Niederhausern; Anil G Jegga; Dana C Crawford; Christopher S Carlson; Mark J Rieder; Sivakumar Gowrisankar; Bruce J Aronow; Robert B Weiss; Deborah A Nickerson
Journal:  Genome Res       Date:  2004-09-13       Impact factor: 9.043

2.  A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy.

Authors:  W Lissens; R Vervoort; N Van Regemorter; P Van Bogaert; M Freund; C Verellen-Dumoulin; S Seneca; I Liebaers
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 3.  Metachromatic leukodystrophy: molecular genetics and an animal model.

Authors:  V Gieselmann; U Matzner; B Hess; R Lüllmann-Rauch; R Coenen; D Hartmann; R D'Hooge; P DeDeyn; G Nagels
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

4.  An Italian cohort study identifies four new pathologic mutations in the ARSA gene.

Authors:  Daniela Galla; Paola de Gemmis; Laura Anesi; Silvia Berto; Diego Dolcetta; Uroš Hladnik
Journal:  J Mol Neurosci       Date:  2013-04-05       Impact factor: 3.444

Review 5.  Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease.

Authors:  Silvia Paciotti; Elisabetta Albi; Lucilla Parnetti; Tommaso Beccari
Journal:  J Clin Med       Date:  2020-02-21       Impact factor: 4.241
  5 in total

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