Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6-Reference-Cited by-同舟云学术

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

Published:2011-05 Issue:5 Volume:88 Page:566-573
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Arsov Todor,Smith Katherine R.,Damiano John,Franceschetti Silvana,Canafoglia Laura,Bromhead Catherine J.,Andermann Eva,Vears Danya F.,Cossette Patrick,Rajagopalan Sulekha,McDougall Alan,Sofia Vito,Farrell Michael,Aguglia Umberto,Zini Andrea,Meletti Stefano,Morbin Michela,Mullen Saul,Andermann Frederick,Mole Sara E.,Bahlo Melanie,Berkovic Samuel F.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference44 articles.

1. Mole, S.E., and Williams, R.E. (2010). Neuronal Ceroid-Lipofuscinoses. Gene Reviews, http://www.ncbi.nlm.nih.gov/books/NBK1428/

2. Neuronal ceroid-lipofuscinoses in childhood;Santavuori;Brain Dev.,1988

3. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses;Mole;Neurogenetics,2005

4. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses;Wisniewski;Neurology,2001

5. Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease;van Diggelen;Ann. Neurol.,2001

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