Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients-Reference-Cited by-同舟云学术

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients

Published:2019-02 Issue:2 Volume:126 Page:188-195
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Chin Joseph J.,Behnam Babak^ORCID,Davids Mariska,Sharma Prashant,Zein Wadih M.,Wang Camille^ORCID,Chepa-Lotrea Xenia,Gallantine William Brian,Toro Camilo,Adams David R.,Tifft Cynthia J.,Gahl William A.,Malicdan May Christine V.

Funder

National Institutes of Health

Common Fund

National Human Genome Research Institute

Office of the Director

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference26 articles.

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2. Genetics of the neuronal ceroid lipofuscinoses (Batten disease);Mole;Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease,2015

3. Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future;Hobert;Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease,2006

4. 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

5. CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein;Mole;Exp. Cell Res.,2004

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1. Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil;Neuropediatrics;2024-06-10

2. Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6;Genes;2024-05-23

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

4. Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center;Orphanet Journal of Rare Diseases;2022-05-03

5. Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview;Frontiers in Neurology;2022-03-11