EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome-Reference-Cited by-同舟云学术

EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome

Published:2016-05-09 Issue:7 Volume:263 Page:1456-1458
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Gargaun Elena,Seferian Andreea Mihaela,Cardas Ruxandra,Le Moing Anne-Gaelle,Delanoe Catherine,Nectoux Juliette,Nelson Isabelle,Bonne Gisèle,Bihoreau Marie-Thérèse,Deleuze Jean-François,Boland Anne,Masson Cécile,Servais Laurent,Gidaro Teresa

Funder

Agence Nationale de la Recherche

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-016-8153-9.pdf

Reference15 articles.

1. Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (2001) EGR2 mutation R359 W causes a spectrum of Dejerine–Sottas neuropathy. Neurogenetics 3:153–157

2. de Heer AM, Merchant SN, Kammeraad JA, Cruysberg JR, Huygen PL, Cremers CW (2012) Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome. Audiol Neurootol 17:219–227

3. Dejerine J, Sottas J (1893) Sur la névrite interstitielle, hypertrophique et progressive de l’enfance. C R Soc Biol 45:63–96

4. Drew AP, Zhu D, Kidambi A, Ly C, Tey S, Brewer MH, Ahmad-Annuar A, Nicholson GA, Kennerson ML (2015) Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Mol Genet Genomic Med 3:143–154

5. Im SH, Kim NH (2008) First case of Madras motor neuron disease from Korea. Muscle Nerve 38:941–942

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1. Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients;Frontiers in Genetics;2023-07-13

2. EGR2 gene‐linked hereditary neuropathies present with a bimodal age distribution at symptoms onset;Journal of the Peripheral Nervous System;2023-06-18

3. New evidence for secondary axonal degeneration in demyelinating neuropathies;Neuroscience Letters;2021-01

4. A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy);Scientific Reports;2019-12

5. Jules Sottas (1866–1945) forgotten despite the eponym: “Dejerine-Sottas syndrome”;Revue Neurologique;2019-05