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NCL diseases — clinical perspectives

Published:2013-11 Issue:11 Volume:1832 Page:1801-1806
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Schulz Angela,Kohlschütter Alfried,Mink Jonathan,Simonati Alessandro,Williams Ruth

Funder

European Union Seventh Framework Programme (FP7/2007-2013)

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference29 articles.

1. The neuronal ceroid-lipofuscinoses: from past to present;Haltia;Biochim. Biophys. Acta,2006

2. The neuronal ceroid lipofuscinoses (Batten disease);Mole,2011

3. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses;Kousi;Hum. Mutat.,2011

4. Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease;Lebrun;Mol. Med.,2011

5. Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship;Lebrun;Hum. Mutat.,2009

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4. Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia;Pediatric Neurology;2024-06

5. Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis;Animal Genetics;2024-05-07

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