Literature DB >> 15179531

Cerebellar white matter involvement in Salla disease.

Roberta Biancheri, A Rossi, M G Mancini, C Minetti.   

Abstract

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Year:  2004        PMID： 15179531     DOI： 10.1007/s00234-004-1166-6

Source DB:  PubMed          Journal:  Neuroradiology        ISSN： 0028-3940            Impact factor:   2.804


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  6 in total

Review 1.  Magnetic resonance in childhood white-matter disorders.

Authors:  M S van der Knaap
Journal:  Dev Med Child Neurol       Date:  2001-10       Impact factor: 5.449

2.  Salla disease--rare or underdiagnosed?

Authors:  R O Robinson; A H Fensom; B D Lake
Journal:  Dev Med Child Neurol       Date:  1997-03       Impact factor: 5.449

3.  A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

Authors:  F W Verheijen; E Verbeek; N Aula; C E Beerens; A C Havelaar; M Joosse; L Peltonen; P Aula; H Galjaard; P J van der Spek; G M Mancini
Journal:  Nat Genet       Date:  1999-12       Impact factor: 38.330

4.  The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

Authors:  N Aula; P Salomäki; R Timonen; F Verheijen; G Mancini; J E Månsson; P Aula; L Peltonen
Journal:  Am J Hum Genet       Date:  2000-08-17       Impact factor: 11.025

5.  A case of Salla disease with involvement of the cerebellar white matter.

Authors:  T Linnankivi; T Lönnqvist; T Autti
Journal:  Neuroradiology       Date:  2003-01-16       Impact factor: 2.804

6.  An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.

Authors:  R Biancheri; E Verbeek; A Rossi; R Gaggero; L Roccatagliata; R Gatti; Op van Diggelen; F W Verheijen; G M S Mancini
Journal:  Clin Genet       Date:  2002-06       Impact factor: 4.438
  6 in total
  1 in total

1.  Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.

Authors:  R Biancheri; A Rossi; H A Verbeek; R Schot; F Corsolini; S Assereto; G M S Mancini; F W Verheijen; C Minetti; M Filocamo
Journal:  Neurogenetics       Date:  2005-09-17       Impact factor: 2.660
  1 in total

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