A. Camuzat

发表

Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia.

Eric Guedj, Mira Didic, Marie-Odile Habert, 2006, Brain : a journal of neurology.

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.

B. Dubois, D. Campion, D. Hannequin, 1999, American journal of human genetics.

Primary Progressive Aphasia Associated With GRN Mutations

B. Dubois, J. Pariente, R. Levy, 2021, Neurology.

Cognitive inhibition impairments in presymptomatic C9orf72 carriers

B. Dubois, R. Levy, F. Pasquier, 2020, Journal of Neurology, Neurosurgery, and Psychiatry.

Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?

A. Destée, A. Bonnet, A. Durr, 2007, Neurology.

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family

C. Ross, A. Dürr, A. Brice, 2001, Annals of neurology.

Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications

J. Pariente, R. Levy, F. Pasquier, 2021, Journal of Neurology Neurosurgery & Psychiatry.

New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers

F. Lamari, C. Junot, F. Elahi, 2018, Front. Neurosci..

A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.

J. Weissenbach, A. Munnich, E. Souied, 1995, 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.

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

B. Dubois, V. Meininger, F. Salachas, 2009, Annals of neurology.

Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin.

L. Naccache, O. Colliot, F. Lamari, 2014, JAMA neurology.

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

A. Bonnet, F. Pasquier, S. Rivaud-Pechoux, 2014, Neurology.

Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers

B. Dubois, V. Meininger, A. Brice, 2015, Alzheimer's & dementia.

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

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

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

J. Hardy, R. Guerreiro, D. Campion, 2013, JAMA neurology.

Primary progressive aphasias associated with C9orf72 expansions: Another side of the story

J. Pariente, M. Chupin, F. Pasquier, 2021, Cortex.

The PSP‐associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism

M. Ruberg, A. Dürr, A. Brice, 2008, Movement disorders : official journal of the Movement Disorder Society.

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2007, Human mutation.

Guadeloupean parkinsonism: a cluster of progressive supranuclear palsy-like tauopathy.

Charles Duyckaerts, Andrew Lees, E. Tolosa, 2002, Brain : a journal of 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.

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing.

B. Dubois, J. Pariente, M. Ruberg, 2013, Journal of Alzheimer's disease : JAD.

G303V tau mutation presenting with progressive supranuclear palsy–like features

J. Honnorat, E. Broussolle, S. Thobois, 2012, Movement disorders : official journal of the Movement Disorder Society.

Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years

B. Dubois, R. Levy, S. Durrleman, 2018, JAMA neurology.

The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency

B. Dubois, M. Sarazin, F. Lamari, 2020, Neurobiology of Aging.

Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions

S. Rivaud-Pechoux, D. Galimberti, C. Fenoglio, 2014, Neurobiology of Aging.

Frontotemporal dementia, motor neuron disease and tauopathy: clinical and neuropathological study in a family

J. Hauw, O. Martinaud, D. Campion, 2005, Acta Neuropathologica.

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

C. Duyckaerts, A. Brice, G. Stevanin, 2018, Acta Neuropathologica Communications.

Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype

L. Defebvre, M. Vidailhet, P. Pollak, 2011, neurogenetics.

Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene

M. Baulac, C. Duyckaerts, A. Brice, 2007, Neurology.

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

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

Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study

V. Marchand-Pauvert, M. Pélégrini-Issac, F. Salachas, 2019, Annals of neurology.

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.

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Nick C Fox, Jennifer M. Nicholas, J. Morris, 2019, The Lancet Neurology.

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

S. Heath, B. Dubois, C. Duyckaerts, 2009, Neurology.

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France

A. Brice, A. Camuzat, E. Kabashi, 2013, Neurobiology of Aging.

Mutations in the neuroserpin gene are rare in familial dementia

Y. Agid, B. Dubois, D. Hannequin, 2000 .

Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13

J. Weissenbach, A. Munnich, H. Dollfus, 1996, Human Genetics.

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with “multisystem proteinopathy” and frontotemporal lobar degeneration phenotypes

D. Hannequin, A. Brice, D. Wallon, 2014, Neurobiology of Aging.

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations

B. Dubois, B. Laurent, A. Brice, 2016, Neurology: Genetics.

Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients

Y. Marie, D. Galimberti, A. Brice, 2014, Neurobiology of Aging.

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

C. Duyckaerts, A. Durr, F. Lamari, 2019, Brain : a journal of neurology.

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia

D. Hannequin, M. Didic, S. Forlani, 2018, Neurobiology of Aging.

FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.

B. Dubois, V. Meininger, F. Salachas, 2010, Journal of Alzheimer's disease : JAD.

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.

Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience

B. Dubois, J. Pariente, R. Levy, 2020, Neurobiology of Aging.

Posterior cortical atrophy as an extreme phenotype of GRN mutations.

B. Dubois, D. Grabli, F. Lamari, 2015, JAMA neurology.

Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia.

A. Durr, A. Brice, P. Genton, 2003, Archives of neurology.

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

B. Dubois, R. Guerreiro, A. Brice, 2014, Neurobiology of Aging.

Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations

Jennifer M. Nicholas, P. Thompson, R. Keren, 2022, Journal of Neurology.

The CBI‐R detects early behavioural impairment in genetic frontotemporal dementia

Nick C Fox, M. Freedman, S. Ourselin, 2022, Annals of clinical and translational neurology.

Temporal order of clinical and biomarker changes in familial frontotemporal dementia

Jennifer M. Nicholas, Sheng-Yang M. Goh, M. Freedman, 2022, Nature Medicine.

A multimodal variational autoencoder for estimating progression scores from imaging and microRNA data in rare neurodegenerative diseases

O. Colliot, D. Saracino, I. Le Ber, 2022, Medical Imaging.

Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

Y. Agid, B. Dubois, D. Campion, 1998, Human molecular genetics.

MicroRNA signatures in genetic frontotemporal dementia and amyotrophic lateral sclerosis

O. Colliot, D. Saracino, I. Le Ber, 2022, Annals of clinical and translational neurology.

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

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

TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia

A. Brice, A. Camuzat, E. Kabashi, 2013, Neurobiology of Aging.

Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration–amyotrophic lateral sclerosis patients

J. Pariente, A. Brice, A. Camuzat, 2013, Neurobiology of Aging.

Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy

Nicholas W. Wood, Albert Ludolph, Gilbert Bensimon, 2009, PloS one.

Association between the extended tau haplotype and frontotemporal dementia.

B. Dubois, D. Campion, D. Hannequin, 2002, Archives of neurology.

Familial herpes simplex encephalitis

T. Ashizawa, A. Dürr, A. Brice, 2002, Annals of neurology.

Familial Herpes Simplex Encephalitis

T. Ashizawa, A. Dürr, A. Brice, 2002 .

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

D. Paslier, A. Munnich, E. Souied, 1996, Nature Genetics.

Structure and Cellular Distribution of Mouse Brain Testican

A. Camuzat, P. Alliel, J. Périn, 1996, The Journal of Biological Chemistry.

Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study

Jennifer M. Nicholas, M. Freedman, N. Fox, 2021, Alzheimer's & dementia.

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.

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

A. Brice, J. Pouget, A. Camuzat, 2014, Neurobiology of Aging.

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

M. Vidailhet, A. Durr, M. Polak, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Is the Saitohin gene involved in neurodegenerative diseases?

B. Dubois, D. Campion, D. Hannequin, 2002, Annals of neurology.

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.

A. Durr, A. Brice, G. Stevanin, 2003, Brain : a journal of neurology.

Predominant dystonia with marked cerebellar atrophy

P. Pollak, A. Durr, A. Dürr, 2006, Neurology.

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

M. Vidailhet, S. Tezenas du Montcel, J. Houeto, 2005, Journal of Medical Genetics.

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation.

O. Rascol, A. Dürr, A. Brice, 2000, American journal of human genetics.

Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis

B. Dubois, D. Campion, D. Hannequin, 2002, European Journal of Human Genetics.

Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales

Jennifer M. Nicholas, M. Freedman, R. Keren, 2022, Journal of Neurology.

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

Nick C Fox, J. Hardy, M. Rossor, 2013, JAMA neurology.

Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study

M. Freedman, J. Dukart, R. Keren, 2023, Neurobiology of Disease.

CAG/CTG repeat expansions at the Huntington’s disease–like 2 locus are rare in Huntington’s disease patients

C. Ross, A. Durr, A. Brice, 2002, Neurology.

Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort

J. E. Iglesias, Jennifer M. Nicholas, M. Freedman, 2023, Brain communications.

Differential early subcortical involvement in genetic FTD within the GENFI cohort

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2021, NeuroImage: Clinical.

C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice

A. Brice, D. Saracino, S. Boluda, 2023, Frontiers in Cellular Neuroscience.

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

M. Ruberg, D. Hannequin, A. Dürr, 2004, Archives of neurology.

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

Eric Guedj, Valérie Hahn-Barma, Marie-Odile Habert, 2008, Brain : a journal of neurology.

Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation

L. Buée, C. Duyckaerts, A. Brice, 2016, Acta neuropathologica communications.

Progranulin null mutations in both sporadic and familial frontotemporal dementia

B. Dubois, C. Duyckaerts, C. van Broeckhoven, 2007, Human mutation.

Integrative genetic analysis illuminates ALS heritability and identifies risk genes

P. Andersen, A. Chiò, J. Veldink, 2023, Nature communications.

DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.

A. Bonnet, R. Levy, S. Rivaud-Pechoux, 2014, JAMA neurology.

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

C. Duyckaerts, A. Brice, G. Stevanin, 2018, Acta neuropathologica communications.

Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch–French cohort

H. Hendriks, R. Sinke, A. Dürr, 2005, Annals of neurology.

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.

C. Broeckhoven, C. van Broeckhoven, A. Dürr, 2001, Brain : a journal of neurology.

Frequency of the DYT1 mutation in primary torsion dystonia without family history.

Y. Agid, M. Vidailhet, A. Dürr, 2000, Archives of neurology.

Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

F. Pasquier, O. Colliot, S. Forlani, 2020, Journal of Neurology, Neurosurgery, and Psychiatry.

A gene for Leber's congenital amaurosis maps to chromosome 17p

J. Weissenbach, A. Munnich, D. Bonneau, 1995 .

Language impairment in the genetic forms of behavioural variant frontotemporal dementia

Jennifer M. Nicholas, M. Freedman, R. Keren, 2022, Journal of Neurology.

A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation

J. Hardy, R. Guerreiro, A. Brice, 2014, Journal of Alzheimer's disease : JAD.

Factors influencing the age at onset in familial frontotemporal lobar dementia

J. Pariente, E. Génin, F. Pasquier, 2017, Neurology: Genetics.

Theme 08 - Clinical Imaging and Electrophysiology

Jennifer M. Nicholas, M. Freedman, R. Keren, 2022, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.

APOE promoter polymorphisms do not confer independent risk for Alzheimer's disease in a French population

D. Campion, D. Hannequin, A. Brice, 2000, European Journal of Human Genetics.

Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD).

D. Le Paslier, A. Munnich, P. Calvas, 1996, Genomics.

Genomic organization of the human SPOCK gene and its chromosomal localization to 5q31.

M. Mattei, A. Camuzat, P. Alliel, 1998, Genomics.

Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort

Jennifer M. Nicholas, M. Freedman, R. Keren, 2023, Journal of the Neurological Sciences.

A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain)

A. Brice, R. Sánchez-Valle, V. Redaelli, 2019, Neurobiology of Aging.

Disease Progression Score Estimation From Multimodal Imaging and MicroRNA Data Using Supervised Variational Autoencoders

O. Colliot, D. Saracino, A. Camuzat, 2022, IEEE J. Biomed. Health Informatics.

Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin.

L. Naccache, O. Colliot, F. Lamari, 2014, JAMA neurology.

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.

Diagnostic accuracy of research criteria for prodromal frontotemporal dementia

Y. Pijnenburg, T. Rittman, B. Nacmias, 2024, Alzheimer's Research & Therapy.

Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia

A. Danek, Y. Pijnenburg, R. Vandenberghe, 2022, Alzheimer's & dementia : the journal of the Alzheimer's Association.

Atypical White Matter Hyperintensities Markedly Impact Plasma Neurofilament Light Chain Variability in GRN Patients.

D. Saracino, I. Le Ber, A. Camuzat, 2023, Journal of Alzheimer's disease : JAD.