A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis-Reference-Cited by-同舟云学术

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis

Published:2008-10-11 Issue:1 Volume:10 Page:73-77
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Stogmann E.,El Tawil S.,Wagenstaller J.,Gaber A.,Edris S.,Abdelhady A.,Assem-Hilger E.,Leutmezer F.,Bonelli S.,Baumgartner C.,Zimprich F.,Strom T. M.,Zimprich A.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-008-0153-1.pdf

Reference17 articles.

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2. Haltia M (2003) The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 62(1):1–13

3. Santavuori P, Lauronen L, Kirveskari K, Aberg L, Sainio K (2000) Neuronal ceroid lipofuscinoses in childhood. Suppl Clin Neurophysiol 53:443–451

4. Goebel HH, Wisniewski KE (2004) Current state of clinical and morphological features in human NCL. Brain Pathol 14(1):61–69

5. Wisniewski KE, Zhong N, Philippart M (2001) Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology 57(4):576–581

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