Literature DB >> 9733046

Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.

P B Munroe, N D Greene, K Y Leung, S E Mole, R M Gardiner, H M Mitchison, J B Stephenson, Y J Crow.   

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Year:  1998        PMID： 9733046      PMCID： PMC1051443          DOI： 10.1136/jmg.35.9.790

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

Review 1.  Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits.

Authors:  Y J Crow; J L Tolmie; A G Howatson; W J Patrick; J B Stephenson
Journal:  Neuropediatrics       Date:  1997-06       Impact factor: 1.947

2.  Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

Authors:  H M Mitchison; S L Hofmann; C H Becerra; P B Munroe; B D Lake; Y J Crow; J B Stephenson; R E Williams; I L Hofman; P E Taschner; J J Martin; M Philippart; E Andermann; F Andermann; S E Mole; R M Gardiner; A M O'Rawe
Journal:  Hum Mol Genet       Date:  1998-02       Impact factor: 6.150

3.  Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.

Authors:  O Levran; R J Desnick; E H Schuchman
Journal:  J Clin Invest       Date:  1991-09       Impact factor: 14.808

4.  Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

Authors:  M Chillón; T Casals; B Mercier; L Bassas; W Lissens; S Silber; M C Romey; J Ruiz-Romero; C Verlingue; M Claustres
Journal:  N Engl J Med       Date:  1995-06-01       Impact factor: 91.245

5.  Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.

Authors:  J Vesa; E Hellsten; L A Verkruyse; L A Camp; J Rapola; P Santavuori; S L Hofmann; L Peltonen
Journal:  Nature       Date:  1995-08-17       Impact factor: 49.962
  5 in total
  1 in total

1.  Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.

Authors:  Miriam Bauwens; Stephan Storch; Nicole Weisschuh; Chantal Ceuterick-de Groote; Riet De Rycke; Brecht Guillemyn; Sarah De Jaegere; Frauke Coppieters; Rudy Van Coster; Bart P Leroy; Elfride De Baere
Journal:  Clin Genet       Date:  2019-12-12       Impact factor: 4.438
  1 in total

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