The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test-Reference-Cited by-同舟云学术

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

Published:2014-04-24 Issue:1 Volume:2 Page:
ISSN:2051-5960
Container-title:Acta Neuropathologica Communications
language:en
Short-container-title:acta neuropathol commun

Author:

Boizot Alexia,Talmat-Amar Yasmina,Morrogh Deborah,Kuntz Nancy L,Halbert Cecile,Chabrol Brigitte,Houlden Henry,Stojkovic Tanya,Schulman Brenda A,Rautenstrauss Bernd,Bomont Pascale

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1186/2051-5960-2-47.pdf

Reference27 articles.

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2. Asbury AK, Gale MK, Cox SC, Baringer JR, Berg BO: Giant axonal neuropathy: a unique case with segmental neurofilamentous masses. Acta Neuropathol 1972, 20: 237–247. 10.1007/BF00686905

3. Berg BO, Rosenberg SH, Asbury AK: Giant axonal neuropathy. Pediatrics 1972, 49: 894–899.

4. Azzedine H, Ravise N, Verny C, Gabreels-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E: Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology 2006, 67: 602–606. 10.1212/01.wnl.0000230225.19797.93

5. Lus G, Nelis E, Jordanova A, Lofgren A, Cavallaro T, Ammendola A, Melone MA, Rizzuto N, Timmerman V, Cotrufo R, De Jonghe P: Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity. Neurology 2003, 61: 988–990. 10.1212/WNL.61.7.988

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