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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.
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.
Article dans une revue
hal-03271668v1
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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.
Article dans une revue
hal-02870179v1
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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.
Article dans une revue
hal-01757319v1
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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.
Article dans une revue
hal-03333716v1
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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.
Article dans une revue
hal-03369962v1
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