C. Magdelaine

发表

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

J. Vallat, C. Goizet, L. Magy, 2015, Journal of Medical Genetics.

Hypotrichosis with keratosis follicular and hyperostosis: a new phenotype due to GJA1 mutation

M. Zerah, B. Leheup, J. Schmutz, 2019, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

M. Holder-Espinasse, D. Lacombe, D. Bonneau, 2010, European journal of medical genetics.

Autosomal-Recessive Charcot-Marie-Tooth Diseases

J. Vallat, F. Sturtz, D. Grid, 2005, Journal of neuropathology and experimental neurology.

Autosomal recessive forms of Charcot-Marie-Tooth disease

J. Vallat, F. Sturtz, D. Grid, 2004, Current Neurology and Neuroscience Reports.

New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software

F. Sturtz, M. Fradin, P. Derouault, 2021, Computational and structural biotechnology journal.

Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism.

A. Linglart, S. Hiéronimus, A. Lienhardt, 2014, The Journal of clinical endocrinology and metabolism.

Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment

L. Richard, J. Vallat, Nathalie Deschamps, 2022, Biomedicines.

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

P. Latour, F. Sturtz, P. Derouault, 2019, Journal of the peripheral nervous system : JPNS.

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

A. Toutain, L. Pasquier, L. Richard, 2019, Molecular genetics & genomic medicine.

Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases

Erdal Kurnaz, Z. Aycan, S. Çetinkaya, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene

F. Sturtz, C. Goizet, P. Derouault, 2022, Journal of personalized medicine.

Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated With Mitofusin 2 Mutations

J. Pollard, J. Vallat, M. Ryan, 2008, Journal of neuropathology and experimental neurology.

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

J. Vallat, M. Ryan, F. Sturtz, 2008, Neurology.

Successful Use of Bisphosphonate and Calcimimetic in Neonatal Severe Primary Hyperparathyroidism

E. Girardin, P. Parvex, A. Wilhelm-Bals, 2012, Pediatrics.

Clinical Characteristics of Familial Hypocalciuric Hypercalcaemia Type 1: A Multicentre Study of 77 Adult Patients.

A. Tabarin, J. Haymann, P. Caron, 2020, Clinical Endocrinology.

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.

J. Salles, F. Sturtz, B. Funalot, 2013, European journal of endocrinology.

Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy

E. Hedley‐Whyte, L. Richard, J. Vallat, 2012, Annals of neurology.

Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population.

F. Rivier, P. Latour, P. Cintas, 2022, Neuropediatrics.

Nerve Biopsy Is Still Useful in Some Inherited Neuropathies

L. Richard, J. Vallat, P. Corcia, 2018, Journal of neuropathology and experimental neurology.

Peripheral nervous system involvement in Leber's hereditary optic neuropathy

J. Vallat, J. Ciron, J. Neau, 2018, Journal of the Neurological Sciences.

Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

A. Toutain, B. Gilbert-Dussardier, P. Bouche, 2009, Archives of neurology.

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

P. Cintas, F. Sturtz, P. Derouault, 2020, Brain sciences.

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

P. Cintas, F. Sturtz, J. Lerat, 2017, Journal of the peripheral nervous system : JPNS.

Multiplex Detection and Genotyping of Point Mutations Involved in Charcot-Marie-Tooth Disease Using a Hairpin Microarray-Based Assay

J. Vallat, F. Sturtz, B. Funalot, 2009, Research letters in biochemistry.

A highly specific microarray method for point mutation detection.

F. Soussaline, J. Vallat, F. Sturtz, 2008, BioTechniques.

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

J. Lupski, L. Vallée, J. Andrieux, 2008, American journal of medical genetics. Part A.

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 . N 802 on receptor activity

J. Salles, F. Sturtz, B. Funalot, 2013 .

Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients

A. Magot, F. Sturtz, C. Sarret, 2021, Annals of clinical and translational neurology.

Peripheral Myelin Protein 22 gene duplication with atypical presentations: A new example of the wide spectrum of Charcot-Marie-Tooth 1A disease

L. Richard, J. Vallat, P. Latour, 2014, Neuromuscular Disorders.

HINT1 neuropathy: Expanding the genotype and phenotype spectrum

N. Lévy, P. Latour, T. Stojkovic, 2022, Clinical genetics.

A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

M. Cossée, N. Lévy, P. Latour, 2022, Genes.

IgG neuropathy: an immunoelectron microscopic study.

P. Sindou, J. Vallat, D. Cros, 2005, Journal of neuropathology and experimental neurology.

A mutation can hide another one: Think Structural Variants!

F. Sturtz, P. Derouault, A. Lia, 2020, Computational and structural biotechnology journal.

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

P. Latour, T. Stojkovic, C. Goizet, 2019, European Journal of Human Genetics.

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

P. Latour, T. Stojkovic, C. Goizet, 2019, European Journal of Human Genetics.

Repeat Expansions of RFC1 in Refractory Chronic Cough: a Missing Piece of the Puzzle?

L. Guilleminault, L. Magy, A. Lia, 2022, Chest.

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

Paco Derouault, Jasmine Chauzeix, David Rizzo, 2020, PLoS Comput. Biol..

Severe Charcot‐Marie‐Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation

C. Goizet, X. Ferrer, A. Vital, 2013, Journal of the peripheral nervous system : JPNS.

Maladies de Charcot-Marie-Tooth : discussion des relations génotypes-lésions ultrastructurales du nerf périphérique

L. Magy, J. Vallat, S. Mathis, 2018 .

Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance

J. Vallat, F. Sturtz, D. Grid, 2007, Acta Neuropathologica.

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

A. Toutain, P. Calvas, B. Gilbert-Dussardier, 2019, Journal of the Neurological Sciences.

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

L. Richard, F. Sturtz, S. Bourthoumieu, 2021, Biomedicines.

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study

F. Giuliano, P. Cintas, S. Quijano-roy, 2019, Neuromuscular Disorders.

The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy

L. Richard, J. Vallat, F. Sturtz, 2023, Biomedicines.

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient

B. Acket, F. Sturtz, E. Bieth, 2019, Molecular genetics & genomic medicine.

ATP7A mutation with occipital horns and distal motor Neuropathy: a continuum.

G. Edan, L. Pasquier, P. Sauleau, 2020, European journal of medical genetics.

Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

A. Toutain, B. Gilbert-Dussardier, P. Bouche, 2009, Archives of neurology.

CMT4D (NDRG1 mutation): genotype–phenotype correlations

J. Vallat, B. Funalot, L. Magy, 2013, Journal of the peripheral nervous system : JPNS.