C. Pottier

发表

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

L. Defebvre, J. Pariente, O. Martinaud, 2013, Neurology.

Genetics of FTLD: overview and what else we can expect from genetic studies

R. Rademakers, C. Pottier, T. Ravenscroft, 2016, Journal of neurochemistry.

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

B Croisile, J. Pariente, J. Lambert, 2012, Molecular Psychiatry.

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Kevin F. Bieniek, B. Miller, C. Geula, 2019, Acta Neuropathologica.

PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy

O. Martinaud, D. Campion, D. Hannequin, 2014, Journal of Molecular Neuroscience.

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

E. Rampersaud, M. Benatar, J. Wuu, 2018, Amyotrophic lateral sclerosis & frontotemporal degeneration.

PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease.

D. Dickson, M. Baker, R. Rademakers, 2015, Brain : a journal of neurology.

Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients

J. V. van Swieten, A. Verkerk, J. V. van Rooij, 2020, Neurobiology of Aging.

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Kevin F. Bieniek, C. Geula, M. Mesulam, 2018, The Lancet Neurology.

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal dementia and GRN mutations: a genome-wide association study

Elizabeth, Sandro, Ying-xue, 2018 .

Impact of variant-level batch effects on identification of genetic risk factors in large sequencing studies

Daniel P. Wickland, Y. Asmann, J. Biernacka, 2020, PloS one.

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

M. Mesulam, D. Dickson, E. Bigio, 2017, Acta Neuropathologica Communications.

Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations

L. Petrucelli, Y. Asmann, R. Petersen, 2021, Brain : a journal of neurology.

Mutation in the 3’untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy

J. Dartigues, S. Hébert, J. Lambert, 2015, European Journal of Human Genetics.

of variant-level batch effects on identification large sequencing studies

Daniel P. Wickland, Y. Asmann, J. Biernacka, 2020 .

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

D. Campion, D. Hannequin, D. Wallon, 2015, Molecular Psychiatry.

Alzheimer disease: modeling an Aβ-centered biological network

D. Campion, A. Rovelet-Lecrux, K. L. Guennec, 2016, Molecular Psychiatry.

PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy

O. Martinaud, D. Campion, D. Hannequin, 2014, Journal of Molecular Neuroscience.

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

Y. Béjot, M. Giroud, D. Campion, 2014, European Journal of Human Genetics.

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

L. Defebvre, J. Pariente, M. Vérin, 2013, Brain : a journal of neurology.

Single-cell profiling of the human primary motor cortex in ALS and FTLD

R. Petersen, B. Boeve, M. Murray, 2021, bioRxiv.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Robert H. Brown, R. Petersen, B. Boeve, 2016, Nature Communications.

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

Kevin F. Bieniek, R. Petersen, B. Boeve, 2015, Acta Neuropathologica.

The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.

M. Murray, D. Dickson, N. Graff-Radford, 2016, American journal of neurodegenerative disease.

Identification of novel Alzheimer’s disease genes co-expressed with TREM2

Y. Asmann, G. Jenkins, J. Biernacka, 2020, bioRxiv.

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

M. Mesulam, L. Petrucelli, R. Petersen, 2017, Neuron.

Prosaposin is a regulator of progranulin levels and oligomerization

Tanya M. Teslovich, G. Abecasis, T. Frayling, 2016, Nature Communications.

Identification of missing variants by combining multiple analytic pipelines

Liudmila Sergeevna Mainzer, Shulan Tian, Yingxue Ren, 2018, BMC Bioinformatics.

TYROBP genetic variants in early-onset Alzheimer's disease

Ronald C. Petersen, Guojun Bu, Cyril Pottier, 2016, Neurobiology of Aging.

Amyloid-β protein precursor gene expression in alzheimer's disease and other conditions.

D. Campion, D. Hannequin, S. Bombois, 2012, Journal of Alzheimer's disease : JAD.

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

L. Petrucelli, Y. Asmann, R. Petersen, 2019, Acta Neuropathologica Communications.

TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease.

D. Campion, D. Hannequin, D. Wallon, 2013, Journal of Alzheimer's disease : JAD.

Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification

F. Durif, D. Campion, D. Hannequin, 2014, neurogenetics.

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

L. Petrucelli, Y. Asmann, R. Petersen, 2019, Acta Neuropathologica Communications.

Three VCP Mutations in Patients with Frontotemporal Dementia.

C. V. van Duijn, A. Rozemuller, J. V. van Swieten, 2018, Journal of Alzheimer's disease : JAD.

Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis

G. Hsiung, I. Mackenzie, M. Baker, 2019, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Identification of missing variants by combining multiple analytic pipelines

Y. Asmann, S. McDonnell, J. Biernacka, 2018, BMC Bioinformatics.

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

M. Mesulam, D. Dickson, E. Bigio, 2017, Acta Neuropathologica Communications.