Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients-Reference-Cited by-同舟云学术

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

Published:2018-12 Issue:1 Volume:18 Page:
ISSN:1471-2377
Container-title:BMC Neurology
language:en
Short-container-title:BMC Neurol

Author:

Sheth Jayesh,Mistri Mehul,Bhavsar Riddhi,Pancholi Dhairya,Kamate Mahesh,Gupta Neerja,Kabra Madhulika,Mehta Sanjiv,Nampoothiri Sheela,Thakker Arpita,Jain Vivek,Shah Raju,Sheth Frenny

Funder

Department of Health Research, Indian Council of Medical Research

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s12883-018-1206-1.pdf

Reference37 articles.

1. Jalanko A, Thomas B. Neuronal ceroid lipofuscinosis. Biochim Biophys Acta. 2009;1793(4):697–709.

2. Kohan R, Carabelos MN, Xin W, Sims K, Guelbert N, Cismondi IA, et al. Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. Gene. 2013;516(1):114–21.

3. Mole SE, Cotman SL. Genetics of the Neuronal Ceroid Lipofuscinoses (Batten disease). Biochim Biophys Acta. 2015;1852(10 PtB):2237–41.

4. Kohlschütter A, Williams RE, Goebel HH, Mole SE, Boustany R-M, van Diggelen OP, et al. NCL Diagnosis and Algorithms. In: Mole SE, Williams RE, Goebel HH, editors. The Neuronal Ceroid Lipofuscinoses (Batten Disease). 2nd edition. Oxford: Oxford University Press; 2011. P.24–34.

5. Williams RE, Mole SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012;79(2):183–91.

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