Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America-Reference-Cited by-同舟云学术

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Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America

Published:2013-03 Issue:1 Volume:516 Page:114-121
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Kohan Romina,Carabelos María Noelia,Xin Winnie,Sims Katherine,Guelbert Norberto,Cismondi Inés Adriana,Pons Patricia,Alonso Graciela Irene,Troncoso Mónica,Witting Scarlet,Pearce David A.,Dodelson de Kremer Raquel,Oller-Ramírez Ana María,Noher de Halac Inés

Funder

Argentinean National Research Council (CONICET-RA)

Secretary of Science and Technology of the National University Córdoba (SECyT-UNC)

Batten Disease Support and Research Association (BDSRA-US)

NIH-Fogarty

von Humboldt Foundation

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference70 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Meth.,2010

2. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6;Arsov;Am. J. Hum. Genet.,2011

3. CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype;Bessa;Mol. Genet. Metab.,2008

4. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis;Bras;Hum. Mol. Genet.,2012

5. The cellular pathology of lysosomal diseases;Cox;J. Pathol.,2012

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3. The neuronal ceroid lipofuscinosis type 2 – associated variants: An analysis of alterations in the TPP1 gene and genotype–phenotype correlation in Ukraine;JIMD Reports;2024-05-14

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