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Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations

G. A. Nicholson , Corinne Magdelaine , D. Zhu , S. Grew , M. M. Ryan , et al.
Neurology, 2008, 70 (19), pp.1678-81. ⟨10.1212/01.wnl.0000311275.89032.22⟩
Article dans une revue hal-00651721v1

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity

Anne-Sophie Lia-Baldini , Corinne Magdelaine , Angélique Nizou , Coraline Airault , Jean-Pierre Salles , et al.
European Journal of Endocrinology, 2013, 168 (2), pp.K27-K34
Article dans une revue hal-02019254v1

A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature

Justine Lerat , Corinne Magdelaine , Hélène Beauvais‐dzugan , Caroline Espil , Karima Ghorab , et al.
Journal of the Peripheral Nervous System, 2018, 24 (1), pp.139-144. ⟨10.1111/jns.12310⟩
Article dans une revue hal-03271683v1

Charcot–Marie–Tooth diseases: an update and some new proposals for the classification

Stéphane Mathis , Cyril Goizet , Meriem Tazir , Corinne Magdelaine , Anne-Sophie Lia , et al.
Journal of Medical Genetics, 2015, 52 (10), pp.681-690. ⟨10.1136/jmedgenet-2015-103272⟩
Article dans une revue hal-03346890v1

Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations.

Jean-Michel Vallat , Robert A Ouvrier , Corinne Magdelaine , John D Pollard , Danqing Zhu , et al.
Journal of Neuropathology and Experimental Neurology, 2008, 67 (11), pp.1097-102. ⟨10.1097/NEN.0b013e31818b6cbc⟩
Article dans une revue hal-00652407v1

One Multilocus Genomic Variation Is Responsible for a Severe Charcot–Marie–Tooth Axonal Form

Federica Miressi , Corinne Magdelaine , Pascal Cintas , Sylvie Bourthoumieux , Angélique Nizou , et al.
Brain Sciences, 2020, 10 (12), pp.986. ⟨10.3390/brainsci10120986⟩
Article dans une revue hal-03402638v1

Nerve Biopsy Is Still Useful in Some Inherited Neuropathies

Mathilde Duchesne , Stéphane Mathis , Laurence Richard , Corinne Magdelaine , Philippe Corcia , et al.
Journal of Neuropathology and Experimental Neurology, 2018, 77 (2), pp.88-99. ⟨10.1093/jnen/nlx111⟩
Article dans une revue hal-03333704v1

CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer

Paco Derouault , Jasmine Chauzeix , David Rizzo , Federica Miressi , Corinne Magdelaine , et al.
PLoS Computational Biology, 2020, 16 (2), pp.e1007503. ⟨10.1371/journal.pcbi.1007503⟩
Article dans une revue hal-03269253v1
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Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

Justine Lerat , Corinne Magdelaine , Anne‐françoise Roux , Léa Darnaud , Hélène Beauvais‐dzugan , et al.
Molecular Genetics & Genomic Medicine, 2019, 7 (9), pp.Université de Valence. ⟨10.1002/mgg3.839⟩
Article dans une revue hal-03271682v1

The spectrum of congenital peripheral neuropathies : 14 cases

Jean-Michel Vallat , M. Tazir , L. Richard , F. Garcia-Bragado , Corinne Magdelaine , et al.
3rd International CMT Consortium Meeting, Jul 2009, Antwerpen, Belgium
Communication dans un congrès hal-00661011v1

Neuropathies périphériques liées à des mutations de la mitofusine2 : spectre clinique et corrélations génotype-phénotype

Benoît Funalot , J. Calvo , Corinne Magdelaine , R. A. Ouvrier , Jean-Michel Vallat
Journées de Neurologie de Langue Française - Société Française de Neurologie, Apr 2009, Lille, France
Communication dans un congrès hal-00661031v1

GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons

Federica Miressi , Nesrine Benslimane , Frédéric Favreau , Marion Rassat , Laurence Richard , et al.
Biomedicines, 2021, 9 (8), pp.945. ⟨10.3390/biomedicines9080945⟩
Article dans une revue hal-03402545v1
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A mutation can hide another one: Think Structural Variants!

Federica Miressi , Pierre-Antoine Faye , Ioanna Pyromali , Sylvie Bourthoumieux , Paco Derouault , et al.
Computational and Structural Biotechnology Journal, 2020, 18, pp.2095-2099. ⟨10.1016/j.csbj.2020.07.021⟩
Article dans une revue hal-03402648v1

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.

Martine Doco-Fenzy , Muriel Holder-Espinasse , Eric Bieth , Corinne Magdelaine , Marie-Claire Vincent , et al.
American Journal of Medical Genetics Part A, 2008, 146 (7), pp.917-924. ⟨10.1002/ajmg.a.32195⟩
Article dans une revue istex hal-00651286v1

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

A highly specific microarray method for point mutation detection.

Yasser Baaj , Corinne Magdelaine , Virginie Ubertelli , Christophe Valat , Luc Talini , et al.
Biotechniques, 2008, 44 (1), pp.119-26
Article dans une revue hal-00650730v1

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations

Judith Calvo , Benoît Funalot , Robert A. Ouvrier , Leila Lazaro , Annick Toutain , et al.
Archives of Neurology -Chigago-, 2009, 66 (12), pp.1511-1516
Article dans une revue hal-00628883v1

[Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations] : Anomalies ultrastructurales des mitonchondries axonales chez des patients atteints de formes précoces de maladie de Charcot-Marie-Tooth dues à des mutations de la mitofusine 2

Benoît Funalot , Corinne Magdelaine , Franck Sturtz , Robert Ouvrier , Jean-Michel Vallat
Bulletin de l'Académie Nationale de Médecine, 2009, 193 (1), pp.151-60; discussion 160-1
Article dans une revue hal-00628043v1
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New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software

Ioanna Pyromali , Alexandre Perani , Angélique Nizou , Nesrine Benslimane , Paco Derouault , et al.
Computational and Structural Biotechnology Journal, 2021, 19, pp.4265-4272. ⟨10.1016/j.csbj.2021.07.037⟩
Article dans une revue hal-03402586v1

LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2

Alessia Peretti , Maud Perie , Didier Vincent , Françoise Bouhour , Klaus Dieterich , et al.
European Journal of Human Genetics, 2019, 27 (9), pp.1406-1418. ⟨10.1038/s41431-019-0403-8⟩
Article dans une revue hal-03275110v1

Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.

M. J. Alao , D. Bonneau , M. Holder-Espinasse , C. Goizet , S. Manouvrier-Hanu , et al.
European Journal of Medical Genetics, 2010, 53 (1), pp.19-22. ⟨10.1016/j.ejmg.2009.08.007⟩
Article dans une revue istex hal-00628409v1