Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s13760-016-0721-3.pdf
Reference29 articles.
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2. Kollmann K, Uusi-Rauva K, Scifo E, Tyynelä J, Jalanko A (1832) Braulke T (2013) Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta 11:1866–1881. doi: 10.1016/j.bbadis.2013.01.019
3. Williams RE, Mole SE (2012) New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology 79(2):183–191. doi: 10.1212/WNL.0b013e31825f0547
4. Schulz A, Dhar S, Rylova S, Dbaibo G, Alroy J, Hagel C, Artacho I, Kohlschütter A, Lin S, Boustany RM (2004) Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. Ann Neurol 56(3):342–350. doi: 10.1002/ana.20187
5. Herva R, Tyynelä J, Hirvasniemi A, Syrjäkallio-Ylitalo M, Haltia M (2000) Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis. Brain Pathol 10(2):215–222
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2. Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8mnd mice;Orphanet Journal of Rare Diseases;2022-11-11
3. CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report;Genes;2021-06-23
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