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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.
Article dans une revue
hal-00651721v1
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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
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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.
Article dans une revue
hal-03271683v1
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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.
Article dans une revue
hal-03346890v1
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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.
Article dans une revue
hal-00652407v1
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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.
Article dans une revue
hal-03402638v1
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Nerve Biopsy Is Still Useful in Some Inherited Neuropathies
Mathilde Duchesne
,
Stéphane Mathis
,
Laurence Richard
,
Corinne Magdelaine
,
Philippe Corcia
,
et al.
Article dans une revue
hal-03333704v1
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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.
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⟩
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hal-03271682v1
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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
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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
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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.
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.
Article dans une revue
hal-03402648v1
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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.
Article dans une revue
istex
hal-00651286v1
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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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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
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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
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hal-00628883v1
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[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
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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.
Article dans une revue
hal-03402586v1
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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.
Article dans une revue
hal-03275110v1
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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.
Article dans une revue
istex
hal-00628409v1
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