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SNP array analysis reveals novel genomic abnormalities including copy neutral loss of heterozygosity in anaplastic oligodendrogliomas

Ahmed Idbaih , François Ducray , Caroline Dehais , Célia Courdy , Catherine Carpentier , et al.
PLoS ONE, 2012, 7 (10), pp.e45950. ⟨10.1371/journal.pone.0045950⟩
Article dans une revue hal-00911465v1
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Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

J. Lerat , C. Magdelaine , A. Lunati , H. Dzugan , C. Dejoie , et al.
Journal of the Neurological Sciences, 2019, 406, pp.116376. ⟨10.1016/j.jns.2019.06.027⟩
Article dans une revue hal-03271668v1

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

M de Antonio , C Dogan , B Eymard , J Puymirat , J Mathieu , et al.
Orphanet Journal of Rare Diseases, 2019
Article dans une revue hal-04015406v1
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Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience

Leila Sellami , Benoit Rucheton , Imen Ben Younes , Agnès Camuzat , Dario Saracino , et al.
Neurobiology of Aging, 2020, 91, pp.167.e1-167.e9. ⟨10.1016/j.neurobiolaging.2020.02.014⟩
Article dans une revue hal-02870179v1

Exploring the diagnosis delay and ALS functional impairment at diagnosis as relevant criteria for clinical trial enrolment*

Bello Hamidou , Benoît Marin , Géraldine Lautrette , Marie Nicol , William Camu , et al.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2017, 18 (7-8), pp.519 - 527. ⟨10.1080/21678421.2017.1353098⟩
Article dans une revue hal-01757319v1

A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature

Justine Lerat , Pascal Cintas , Hélène Beauvais-Dzugan , Corinne Magdelaine , Franck Sturtz , et al.
Journal of the Peripheral Nervous System, 2017, 22 (2), pp.77-84. ⟨10.1111/jns.12216⟩
Article dans une revue hal-03333716v1

Effect of familial clustering in the genetic screening of 235 French ALS families

Philippe Corcia , William Camu , Celine Brulard , Sylviane Marouillat , Philippe Couratier , et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2021, 92 (5), pp.479-484. ⟨10.1136/jnnp-2020-325064⟩
Article dans une revue hal-03369962v1