CLN6 disease caused by the same mutation originating in Pakistan has varying pathology-Reference-Cited by-同舟云学术

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CLN6 disease caused by the same mutation originating in Pakistan has varying pathology

Published:2013-11 Issue:6 Volume:17 Page:657-660
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Guerreiro Rita,Bras Jose T.,Vieira Mariana,Warrier Varun,Agrawal Shakti,Stewart Helen,Anderson Glenn,Mole Sara E.

Funder

Wellcome Trust/MRC Joint Call

European Union Seventh Framework Programme

Medical Research Council

Batten Disease Support and Research Association, USA

NHS Executive

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference9 articles.

1. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses;Williams;Neurology,2012

2. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses;Kousi;Hum Mutat,2012

3. Neuronal ceroid lipofuscinoses (NCL);Mole;Europ J Paediatr Neurol,2006

4. The neuronal ceroid lipofusinoses (Batten disease);Mole,2011

5. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data;McKenna;Genome Res,2010

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1. Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia;2024-01-30

2. Whole Exome Sequencing Identifies Variable Expression of CLN6Variants in PME Affected Families;Epilepsy Research;2023-12

3. Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report;World Journal of Clinical Cases;2023-05-26

4. Prenatal Diagnosis of Disorders of Lipid Metabolism;Genetic Disorders and the Fetus;2021-04-20

5. Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family;Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova;2021

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