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Open Access 01-04-2015 | Letter to the Editors

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

Authors: Christopher Grunseich, Alice B. Schindler, Ke-lian Chen, Dara Bakar, Ami Mankodi, Ryan Traslavina, Abhik Ray-Chaudhury, Tanya J. Lehky, Eva H. Baker, Nicholas J. Maragakis, Cynthia J. Tifft, Kenneth H. Fischbeck

Published in: Journal of Neurology | Issue 4/2015

Excerpt

Dear Sirs, …

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Lupski JR, Reid JG, Gonzaga-Jauregui C et al (2010) Whole genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 362:1181–1191PubMedCentralCrossRefPubMed

Gomez-Lira M, Sangalli A, Mottes M et al (1995) A common β hexosaminidase gene mutation in adult Sandhoff disease patients. Hum Genet 96:417–422CrossRefPubMed

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Title: Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency
Authors: Christopher Grunseich
Alice B. Schindler
Ke-lian Chen
Dara Bakar
Ami Mankodi
Ryan Traslavina
Abhik Ray-Chaudhury
Tanya J. Lehky
Eva H. Baker
Nicholas J. Maragakis
Cynthia J. Tifft
Kenneth H. Fischbeck
Publication date: 01-04-2015
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 4/2015
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-015-7683-x

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Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

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