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Towards a functional pathology of hereditary neuropathies

  • Published:2016-11-28 Issue:4 Volume:133 Page:493-515
  • ISSN:0001-6322
  • Container-title:Acta Neuropathologica
  • language:en
  • Short-container-title:Acta Neuropathol

Author:

Weis JoachimORCID,Claeys Kristl G.,Roos Andreas,Azzedine Hamid,Katona Istvan,Schröder J. Michael,Senderek Jan

Funder

Deutsche Forschungsgemeinschaft

Bundesministerium für Bildung und Forschung

IZKF Aachen

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Reference186 articles.

1. Antoine JC, Laplanche JL, Mosnier JF, Beaudry P, Chatelain J, Michel D (1996) Demyelinating peripheral neuropathy with Creutzfeldt–Jakob disease and mutation at codon 200 of the prion protein gene. Neurology 46:1123–1127

2. Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED (2003) Glycyl tRNA synthetase mutations in Charcot–Marie–Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 72:1293–1299. doi: 10.1086/375039

3. Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Medard JJ, Tricaud N, Kleine H, Luscher B, Weis J, Suter U, Senderek J, Chrast R (2009) SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. Proc Natl Acad Sci USA 106:17528–17533. doi: 10.1073/pnas.0905523106

4. Asbury AK, Gale MK, Cox SC, Baringer JR, Berg BO (1972) Giant axonal neuropathy—a unique case with segmental neurofilamentous masses. Acta Neuropathol 20:237–247

5. Auer-Grumbach M, Olschewski A, Papic L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Frohlich E, Balint Z, Tang B, Strohmaier H, Lochmuller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C (2010) Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 42:160–164. doi: 10.1038/ng.508

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