Literature DB >> 27159987

EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.

Elena Gargaun1, Andreea Mihaela Seferian1, Ruxandra Cardas1, Anne-Gaelle Le Moing1, Catherine Delanoe2, Juliette Nectoux3, Isabelle Nelson4, Gisèle Bonne4, Marie-Thérèse Bihoreau5, Jean-François Deleuze5, Anne Boland5, Cécile Masson6, Laurent Servais1, Teresa Gidaro7.   

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Year:  2016        PMID： 27159987     DOI： 10.1007/s00415-016-8153-9

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  14 in total

1.  Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

Authors:  Marianna Ciccolella; Michela Catteruccia; Sabina Benedetti; Isabella Moroni; Graziella Uziel; Chiara Pantaleoni; Luisa Chiapparini; Alberto Bizzi; Adele D'Amico; Fabiana Fattori; Maria Letizia Salsano; Anna Pastore; Giulia Tozzi; Fiorella Piemonte; Enrico Bertini
Journal:  Neuromuscul Disord       Date:  2012-07-21       Impact factor: 4.296

2.  Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

Authors:  L E Warner; J Svaren; J Milbrandt; J R Lupski
Journal:  Hum Mol Genet       Date:  1999-07       Impact factor: 6.150

Review 3.  Hereditary motor-sensory, motor, and sensory neuropathies in childhood.

Authors:  Pierre Landrieu; Jonathan Baets; Peter De Jonghe
Journal:  Handb Clin Neurol       Date:  2013

4.  Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.

Authors:  Anne-Martine R de Heer; Saumil N Merchant; Janneke A E Kammeraad; Johannes R M Cruysberg; Patrick L M Huygen; Cor W R J Cremers
Journal:  Audiol Neurootol       Date:  2012-04-05       Impact factor: 1.854

5.  Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

Authors:  V Timmerman; P De Jonghe; C Ceuterick; E De Vriendt; A Löfgren; E Nelis; L E Warner; J R Lupski; J J Martin; C Van Broeckhoven
Journal:  Neurology       Date:  1999-06-10       Impact factor: 9.910

Review 6.  Recent advances in bulbar syndromes: genetic causes and disease mechanisms.

Authors:  Andreea Manole; Pietro Fratta; Henry Houlden
Journal:  Curr Opin Neurol       Date:  2014-10       Impact factor: 5.710

7.  Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

Authors:  Alexander P Drew; Danqing Zhu; Aditi Kidambi; Carolyn Ly; Shelisa Tey; Megan H Brewer; Azlina Ahmad-Annuar; Garth A Nicholson; Marina L Kennerson
Journal:  Mol Genet Genomic Med       Date:  2015-01-14       Impact factor: 2.183

8.  Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

Authors:  Janel O Johnson; J Raphael Gibbs; Andre Megarbane; J Andoni Urtizberea; Dena G Hernandez; A Reghan Foley; Sampath Arepalli; Amelie Pandraud; Javier Simón-Sánchez; Peter Clayton; Mary M Reilly; Francesco Muntoni; Yevgeniya Abramzon; Henry Houlden; Andrew B Singleton
Journal:  Brain       Date:  2012-06-26       Impact factor: 13.501

9.  Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

Authors:  Tobias B Haack; Christine Makowski; Yoshiaki Yao; Elisabeth Graf; Maja Hempel; Thomas Wieland; Ulrike Tauer; Uwe Ahting; Johannes A Mayr; Peter Freisinger; Hiroki Yoshimatsu; Ken Inui; Tim M Strom; Thomas Meitinger; Atsushi Yonezawa; Holger Prokisch
Journal:  J Inherit Metab Dis       Date:  2012-08-03       Impact factor: 4.982

10.  Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.

Authors:  Atchayaram Nalini; Amelie Pandraud; Kin Mok; Henry Houlden
Journal:  J Neurol Sci       Date:  2013-08-13       Impact factor: 3.181
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  2 in total

Review 1.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046

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

Authors:  Bianca R Grosz; Natasha B Golovchenko; Melina Ellis; Kishore Kumar; Garth A Nicholson; Anthony Antonellis; Marina L Kennerson
Journal:  Sci Rep       Date:  2019-12-18       Impact factor: 4.379
  2 in total

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