Literature DB >> 10191126

Genetic heterogeneity of neuronal ceroid lipofuscinosis in The Netherlands.

P E Taschner1, P F Franken, L van Berkel, M H Breuning.   

Abstract

An overview of patients in the Netherlands who are known to us with neuronal ceroid lipofuscinosis (NCL) is presented. Several CLN genes involved in NCL have been isolated or mapped. We have analyzed families with different types of NCL with polymorphic markers linked to CLN loci to investigate the genetic heterogeneity of NCL in the Netherlands. Haplotype analysis suggests that in addition to the CLN2 and CLN6 genes another gene is involved in at least one family with late infantile NCL in the Netherlands. The CLN2 and CLN6 loci have also been excluded in a family with protracted juvenile NCL. Copyright 1999 Academic Press.

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Year:  1999        PMID： 10191126     DOI： 10.1006/mgme.1999.2810

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  4 in total

1.  Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.

Authors:  David E Sleat; Erika Gedvilaite; Yeting Zhang; Peter Lobel; Jinchuan Xing
Journal:  Gene       Date:  2016-08-20       Impact factor: 3.688

2.  Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.

Authors:  Eva Wibbeler; Raymond Wang; Emily de Los Reyes; Nicola Specchio; Paul Gissen; Norberto Guelbert; Miriam Nickel; Christoph Schwering; Lenora Lehwald; Marina Trivisano; Laura Lee; Gianni Amato; Jessica Cohen-Pfeffer; Renée Shediac; Fernanda Leal-Pardinas; Angela Schulz
Journal:  J Child Neurol       Date:  2020-12-23       Impact factor: 1.987

3.  Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

Authors:  Filippo Maria Santorelli; Barbara Garavaglia; Francesco Cardona; Nardo Nardocci; Bernardo Dalla Bernardina; Stefano Sartori; Agnese Suppiej; Enrico Bertini; Dianela Claps; Roberta Battini; Roberta Biancheri; Mirella Filocamo; Francesco Pezzini; Alessandro Simonati
Journal:  Orphanet J Rare Dis       Date:  2013-02-02       Impact factor: 4.123

4.  Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.

Authors:  Anastasiya A Kozina; Elena G Okuneva; Natalia V Baryshnikova; Olga B Kondakova; Ekaterina A Nikolaeva; Inessa D Fedoniuk; Svetlana V Mikhailova; Anna Y Krasnenko; Ivan F Stetsenko; Nikolay A Plotnikov; Olesia I Klimchuk; Yaroslav V Popov; Ekaterina I Surkova; Peter A Shatalov; Alexander S Rakitko; Valery V Ilinsky
Journal:  Mol Genet Genomic Med       Date:  2020-05-15       Impact factor: 2.473
  4 in total

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