C. Rouzier

发表

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

C. Richelme, E. Ostergaard, A. Chaussenot, 2010, Journal of Medical Genetics.

Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322–324.

J. Pouget, A. Chaussenot, S. Sacconi, 2015, Journal of the Neurological Sciences.

Ex vivo expansion of CD34+/CD41+ late progenitors from enriched peripheral blood CD34+ cells

M. Berger, A. Tchirkov, J. Kanold, 2000, Annals of Hematology.

LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.

J. Grob, N. Lévy, C. Gaudy-Marqueste, 2009, Genetic testing and molecular biomarkers.

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

S. Tezenas du Montcel, A. Toutain, C. Rooryck, 2020, Journal of Clinical Medicine.

Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

P. Yu-Wai-Man, A. Chaussenot, S. Bannwarth, 2017, Human molecular genetics.

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia.

A. Chaussenot, S. Bannwarth, A. Cano, 2011, Mitochondrion.

Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA).

A. Chaussenot, C. Rouzier, V. Paquis-Flucklinger, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

A. Brice, P. Yu-Wai-Man, J. Pouget, 2015, Brain : a journal of neurology.

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1

C. Rouzier, L. Ben Jemaa, H. Jilani, 2022, Ophthalmic genetics.

Identification of novel mutations in WFS1 and genotype–phenotype correlation in Wolfram syndrome

V. Procaccio, B. Delobel, P. Lecomte, 2007, American journal of medical genetics. Part A.

CHCHD10-Related Disorders

A. Chaussenot, S. Bannwarth, C. Rouzier, 2015 .

A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants.

M. Koenig, M. Claustres, C. Raynal, 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

A. Chaussenot, S. Sacconi, S. Bannwarth, 2018, Neurology: Genetics.

Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.

A. Chaussenot, S. Bannwarth, C. Rouzier, 2022, European journal of medical genetics.

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

A. Chaussenot, S. Bannwarth, B. Chabrol, 2019, Molecular genetics and metabolism reports.

C. Richelme, A. Chaussenot, S. Bannwarth, 2019, Journal of Human Genetics.

Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.

A. Chaussenot, S. Bannwarth, B. Chabrol, 2017, Molecular genetics and metabolism.

A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers

A. Chaussenot, S. Bannwarth, A. M. Paula, 2016, Neuromuscular Disorders.

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

A. Chaussenot, S. Bannwarth, J. Benoist, 2016, Biological Research.

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

E. Génin, A. Brice, P. Yu-Wai-Man, 2016, Brain : a journal of neurology.

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1‐related disorders

H. Dollfus, A. Chaussenot, M. Nicolino, 2015, Clinical genetics.

A novel homozygous MMP2 mutation in a family with Winchester syndrome

A Coussement, N. Philip, S. Bannwarth, 2006, Clinical genetics.

Extragestational βHCG secretion due to an isolated lung epithelioid trophoblastic tumor: microsatellite genotyping of tumoral cells confirmed their placental origin and oriented specific chemotherapy.

P. Chevallier, J. Mouroux, P. Fénichel, 2014, The Journal of clinical endocrinology and metabolism.

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases

A. Chaussenot, S. Bannwarth, C. Rouzier, 2018, BMC Medical Genetics.

Detection of the TMPRSS2-ETS fusion gene in prostate carcinomas: retrospective analysis of 55 formalin-fixed and paraffin-embedded samples with clinical data.

J. Amiel, F. Pedeutour, J. Michiels, 2008, Cancer genetics and cytogenetics.

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

J. Pouget, V. Procaccio, A. Chaussenot, 2012, Brain : a journal of neurology.

Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases

J. Pouget, M. Soriani, A. Chaussenot, 2020, Human mutation.

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

M. Martin-Négrier, C. Bris, D. Goudenège, 2021, Genetics in Medicine.

Neurologic features and genotype‐phenotype correlation in Wolfram syndrome

S. A. E. Mkadem, A. Chaussenot, B. Vialettes, 2011, Annals of neurology.

Large-volume leukapheresis procedure for peripheral blood progenitor cell collection in children weighing 15 kg or less: efficacy and safety evaluation.

J. Stéphan, M. Berger, J. Kanold, 1999, Medical and pediatric oncology.

C. Richelme, A. Chaussenot, S. Bannwarth, 2019, Journal of Human Genetics.

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Robert W. Taylor, J. Gagneur, E. Génin, 2016, American journal of human genetics.

CHCHD10 mutations are not a common cause of SMN1‐negative type III/IV spinal motor atrophy

E. Génin, J. Pouget, M. Soriani, 2015, Annals of neurology.

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

E. Génin, A. Brice, P. Yu-Wai-Man, 2015, Brain : a journal of neurology.

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

E. Génin, A. Brice, P. Yu-Wai-Man, 2015, Brain : a journal of neurology.

Reply : CHCHD 10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

E. Génin, A. Brice, P. Yu-Wai-Man, 2015 .

Reply : Is CHCHD 10 Pro 34 Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis ?

E. Génin, A. Brice, P. Yu-Wai-Man, 2015 .

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

E. Génin, A. Brice, P. Yu-Wai-Man, 2014, Brain : a journal of neurology.

Reply : Are CHCHD 10 mutations indeed associated with familial amyotrophic lateral sclerosis ?

E. Génin, A. Brice, P. Yu-Wai-Man, 2014 .

Winchester syndrome: the progression of radiological findings over a 23-year period

A. Coussement, J. Lambert, C. Rouzier, 2011, Skeletal Radiology.

Clinical utility gene card for: Wolfram syndrome

M. Bitner-Glindzicz, R. Bowman, P. Yu-Wai-Man, 2016, European Journal of Human Genetics.

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

C. Richelme, J. Pouget, A. Chaussenot, 2013, European Journal of Human Genetics.

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

A. Munnich, F. Denoyelle, D. Lacombe, 2016, Human mutation.

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

N. Romero, P. Laforêt, A. Béhin, 2018, Revue neurologique.

The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients

J. Saurin, J. Limacher, V. Boige, 2022, Digestive Diseases and Sciences.

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

P. Calvas, C. Moutou, C. Goizet, 2020, Scientific Reports.

Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.

D. Wallace, J. Gargus, P. Calvas, 2008, Mitochondrion.

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation.

M. Koenig, M. Claustres, E. Bieth, 2017, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

R. Favre, P. Calvas, C. Moutou, 2020, Scientific Reports.

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

M. Koenig, M. Claustres, E. Bieth, 2018, Fetal Diagnosis and Therapy.

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

A. Chaussenot, S. Bannwarth, J. Benoist, 2016, Biological Research.

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy

S. Thobois, F. Bouhour, S. Gerber, 2023, EMBO molecular medicine.

L. Faivre, C. Philippe, P. Gaignard, 2022, Mitochondrion.