C. Cazeneuve

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NF1 gene analysis focused on CpG‐rich exons in a cohort of 93 patients with neurofibromatosis type 1

D. Vidaud, E. G. Boulandet, J. Pantel, 2000, Human mutation.

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

M. Koenig, S. Kremer, I. Namer, 2017, Journal of Neurology.

Biotransformation of caffeine in human liver microsomes from foetuses, neonates, infants and adults.

C. Cazeneuve, T. Cresteil, J. Treluyer, 1994, British journal of clinical pharmacology.

Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever

C. Cazeneuve, S. Amselem, M. Gerard-Blanluet, 2006, Annals of the rheumatic diseases.

MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.

C. Cazeneuve, S. Amselem, D. Tchernitchko, 2005, Arthritis and rheumatism.

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever

C. Cazeneuve, S. Amselem, D. Tchernitchko, 2003, Human mutation.

Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.

C. Cazeneuve, S. Amselem, E. Girodon, 2003, Clinical chemistry.

Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations.

C. Cazeneuve, S. Amselem, J. Feingold, 2003, Arthritis and rheumatism.

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations

E. Chouery, A. Mégarbané, J. Loiselet, 2001, European Journal of Human Genetics.

Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever.

C. Cazeneuve, S. Amselem, C. Dodé, 2000, American journal of medical genetics.

Clinical versus genetic diagnosis of familial Mediterranean fever.

C. Cazeneuve, S. Amselem, C. Dodé, 2000, QJM : monthly journal of the Association of Physicians.

Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.

F. Roudot-thoraval, J. Kouyoumdjian, C. Cazeneuve, 2000, American journal of human genetics.

SOD 1 , ANG , VAPB , TARDBP , and FUS mutations in familial Amyotrophic Lateral Sclerosis : genotype-phenotype correlations

V. Meininger, F. Salachas, D. Hannequin, 2017 .

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

V. Meininger, F. Salachas, D. Hannequin, 2010, Journal of Medical Genetics.

Comprehensive Cystic Fibrosis Mutation Epidemiology and Haplotype Characterization in a Southern Italian Population

V. Raia, C. Cazeneuve, M. Goossens, 2005, Annals of human genetics.

A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson’s disease

A. Brice, C. Cazeneuve, M. Salih, 2009, neurogenetics.

TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts

B. Dubois, R. Levy, F. Pasquier, 2015, Neurobiology of Aging.

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

V. Meininger, F. Salachas, C. Cazeneuve, 2013, Acta Neuropathologica.

A liminal stage after predictive testing for Huntington disease

S. Tezenas du Montcel, A. Durr, Marie-France Jutras, 2017, Journal of Medical Genetics.

Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study

Francois R. Lamy, S. Kremer, C. Cazeneuve, 2022, Journal of Neurology.

Characteristics of clinical and electrophysiological pattern of Charcot‐Marie‐Tooth 4C

A. Brice, C. Cazeneuve, S. Tardieu, 2012, Journal of the peripheral nervous system : JPNS.

Survival and severity in dominant cerebellar ataxias

S. Tezenas du Montcel, A. Durr, S. Forlani, 2015, Annals of clinical and translational neurology.

Exhaustive analysis of BH 4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

Michael K. Hutchinson, M. Vidailhet, D. Grabli, 2009 .

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

Michael K. Hutchinson, M. Vidailhet, D. Grabli, 2009, Brain : a journal of neurology.

Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration

F. Lamari, D. Campion, A. Brice, 2014, neurogenetics.

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.

F. Pasquier, C. Duyckaerts, C. van Broeckhoven, 2021, Brain : a journal of neurology.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.

Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes

V. Meininger, F. Salachas, A. Brice, 2012, Journal of Medical Genetics.

Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations

S. Vukusic, P. Leblanc, C. Cazeneuve, 2021, Genes.

Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis

V. Meininger, F. Salachas, A. Brice, 2012, Neurobiology of Aging.

Mutation heterogeneity of cystic fibrosis in France: Screening by denaturing gradient gel electrophoresis using psoralen‐modified oligonucleotide

C. Cazeneuve, J. Kaplan, T. Bienvenu, 1995, Human mutation.

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

M. Ruberg, F. Rivier, C. Depienne, 2009, PLoS Genetics.

Liver iron accumulation in patients with chronic active hepatitis C: prevalence and role of hemochromatosis gene mutations and relationship with hepatic histological lesions.

J. Pawlotsky, F. Roudot-thoraval, D. Dhumeaux, 1999, Journal of hepatology.

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

M. Ruberg, F. Rivier, C. Depienne, 2009, PLoS genetics.

Hemochromatosis Cys282Tyr mutation and liver iron overload in patients with chronic active hepatitis C

J. Pawlotsky, D. Dhumeaux, C. Cazeneuve, 1998, Hepatology.

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

S. Lehéricy, B. Dubois, J. Pariente, 2019, Neurobiology of Aging.

Screening of OPTN in French familial amyotrophic lateral sclerosis

V. Meininger, F. Salachas, A. Brice, 2011, Neurobiology of Aging.

Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis

V. Meininger, F. Salachas, A. Brice, 2010, Proceedings of the National Academy of Sciences of the United States of America.

Deciphering the natural history of SCA7 in children

A. Durr, D. Devos, C. Cazeneuve, 2020, European journal of neurology.

Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease

A. Durr, F. Salachas, M. Amador, 2020, Neurology: Genetics.

LOW DISEASE RISK IN RELATIVES OF NORTH AFRICAN LRRK2 PARKINSON DISEASE PATIENTS

M. Vidailhet, P. Pollak, A. Dürr, 2010, Neurology.

Hemochromatosis C282Y mutation and histological fibrosis in patients with C virus chronic hepatitis

J. Pawlotsky, F. Roudot-thoraval, D. Dhumeaux, 1999, Hepatology.

Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study

Francois R. Lamy, S. Kremer, C. Cazeneuve, 2022, Journal of Neurology.

CFTR genotypes in patients with normal or borderline sweat chloride levels

C. Clavel, M. Claustres, C. Férec, 2003, Human mutation.

Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration

F. Lamari, D. Campion, A. Brice, 2014, neurogenetics.

Évaluation analytique et clinique du kit de détection des mutations du gène CFTR CF(12)m PCRTM

C. Houdayer, C. Cazeneuve, M. Goossens, 1998 .

Clinical evaluation of the CF(12)m cystic fibrosis DNA diagnostic kit.

C. Houdayer, C. Cazeneuve, M. Goossens, 1998, Clinical chemistry.

Screening practices for mutations in the CFTR gene ABCC7

C. Cazeneuve, M. Goossens, E. Girodon-Boulandet, 2000, Human mutation.

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

C. Clavel, M. Claustres, C. Férec, 2000, Human mutation.

Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection.

C. Cazeneuve, S. Amselem, W. Lissens, 1999, American journal of human genetics.

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho‐functional dysfunction

A. Durr, D. Hannequin, S. Forlani, 2011, Human mutation.

Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants

C. Cazeneuve, G. Millat, P. Chevalier, 2022, Molecular Diagnosis & Therapy.

Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation

C. Duyckaerts, V. Meininger, F. Salachas, 2009, Acta Neuropathologica.

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

C. Depienne, C. Cazeneuve, R. Nabbout, 2008, Journal of Medical Genetics.

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.

P. Pollak, Nir Giladi, N. Hattori, 2010, Human molecular genetics.

Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC

C. Cazeneuve, S. Amselem, P. Duquesnoy, 2004, Journal of Medical Genetics.

The Tumor Necrosis Factor α-dependent Activation of the Human Mediterranean Fever (MEFV) Promoter Is Mediated by a Synergistic Interaction between C/EBPβ and NFκB p65*

C. Cazeneuve, S. Amselem, D. Sahali, 2003, Journal of Biological Chemistry.

Pharmacogenetic study in Hodgkin lymphomas reveals the impact of UGT1A1 polymorphisms on patient prognosis.

G. Salles, A. Stamatoullas, O. Casasnovas, 2009, Blood.

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

S. Pulst, D. Timmann, S. Tezenas du Montcel, 2014, Brain : a journal of neurology.

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

D. Grabli, A. Durr, A. Brice, 2016, JAMA neurology.

Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis

Y. Marie, V. Meininger, F. Salachas, 2020, Neurobiology of Aging.

Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities

Y. Marie, V. Meininger, F. Salachas, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.

J. Kouyoumdjian, C. Cazeneuve, S. Amselem, 1999, American journal of human genetics.

Interaction of pyrin with 14.3.3 in an isoform-specific and phosphorylation-dependent manner regulates its translocation to the nucleus.

J. Camonis, C. Cazeneuve, S. Amselem, 2005, Arthritis and rheumatism.

Amyloidosis and auto-inflammatory syndromes.

N. Ravet, L. Cuisset, C. Cazeneuve, 2005, Current drug targets. Inflammation and allergy.

Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype.

Iscia Lopes-Cendes, Guilherme Riccioppo Rodrigues, Ruth H Walker, 2011, Arquivos de neuro-psiquiatria.

Propensity for somatic expansion increases over the course of life in Huntington disease

A. Durr, A. Brice, S. Humbert, 2021, eLife.

CAG repeat size in Huntingtin alleles is associated with cancer prognosis

A. Durr, S. Vacher, I. Bièche, 2016, European Journal of Human Genetics.

Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations.

V. Raia, C. Cazeneuve, M. Goossens, 1999, Clinical chemistry.

The tumor necrosis factor alpha-dependent activation of the human mediterranean fever (MEFV) promoter is mediated by a synergistic interaction between C/EBP beta and NF kappaB p65.

C. Cazeneuve, S. Amselem, D. Sahali, 2003, Journal of Biological Chemistry.

Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus.

J. Pantel, C. Cazeneuve, S. Amselem, 2000, Human molecular genetics.

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

F. Bombelli, A. Brice, P. Amati‐Bonneau, 2014, JAMA neurology.

Motor neuron disease of very long disease duration or Charcot-Marie-Tooth disease? A novel phenotype related to the SOD1 p.E22G variant.

C. Cazeneuve, T. Stojkovic, P. Corcia, 2017, Revue neurologique.

T. Barnetche, C. Cazeneuve, C. Goizet, 2021, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

M. Ruberg, A. Durr, S. Forlani, 2006, Journal of Medical Genetics.

MEFV gene analysis in PFAPA.

C. Cazeneuve, S. Amselem, P. Reinert, 2003, The Journal of pediatrics.

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

X. Estivill, T. Dörk, C. Clavel, 2001, Journal of medical genetics.

Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.

Alexandra Durr, Cécile Cazeneuve, David Devos, 2012, Archives of neurology.

Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center’s Experience Over 5 Years

C. Cazeneuve, G. Millat, P. Chevalier, 2021, Molecular Diagnosis & Therapy.

A-SYNUCLEIN GENE DUPLICATION IS PRESENT IN SPORADIC PARKINSON DISEASE. Authors' reply

A. Bonnet, K. Lohmann, A. Brice, 2008 .

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center’s Experience Over 5 Years

C. Cazeneuve, G. Millat, P. Chevalier, 2021, Molecular Diagnosis & Therapy.

Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis.

C. Cazeneuve, E. Girodon, O. Chazouilleres, 2002, Journal of hepatology.

Pre-symptomatic diagnosis in ALS.

C. Cazeneuve, P. Vourc'h, P. Corcia, 2020, Revue neurologique.

Huntington's disease‐like 2 in Brazil—Report of 4 patients

A. Brice, C. Cazeneuve, S. Raskin, 2008, Movement disorders : official journal of the Movement Disorder Society.

Hereditary Spastic Paraplegia Exon Deletions of SPG 4 are a Frequent Cause of

M. Ruberg, S. Forlani, C. Depienne, 2006 .

α-Synuclein gene duplication is present in sporadic Parkinson disease

A. Brice, S. Lesage, C. Cazeneuve, 2008, Neurology.

A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease

L. Defebvre, L. Buée, A. Dürr, 2009, Neurobiology of Disease.

CFTR Gene Mutations in Adults with Disseminated Bronchiectasis

B. Housset, C. Cazeneuve, F. Lebargy, 1997, European journal of human genetics : EJHG.

Three novel sequence variations in the 5′ upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defect

C. Cazeneuve, J. Kaplan, M. Raymondjean, 1995, Human Genetics.

A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.

C. Cazeneuve, J. Kaplan, T. Bienvenu, 1994, Human Molecular Genetics.

Prenatal testing in Huntington disease: after the test, choices recommence

A. Durr, C. Cazeneuve, D. Heron, 2016, European Journal of Human Genetics.