Skip to Main Content

Author Details

Alexis Brice
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
1987
813
124
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36343661Mitochondrial haplogroups and cognitive progression in Parkinson's disease.Brain2023
37957369Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.Hum Genet2023
37425910Genome-wide association study identifies a new susceptibility locus in <i>PLA2G4C</i> for Multiple System Atrophy.medRxiv2023
37457636Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.Tremor Other Hyperkinet Mov (N Y)2023
37138765C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice.Front Cell Neurosci2023
37003407Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression.Neurobiol Dis2023
37301203Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.Am J Hum Genet2023
36788297Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers.Mov Disord2023
36692014Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.Mov Disord2023
36422518Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?Genet Med2023
36599645Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.J Med Genet2023
36073231PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.Brain2023
36348503Association between the LRP1B and APOE loci and the development of Parkinson's disease dementia.Brain2023
34633332Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease.J Parkinsons Dis2022
35411967Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.Ann Neurol2022
35670808Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.Genet Med2022
35810454The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited.Mov Disord2022
35970579Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium.Neurology2022
36056923The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.Genet Med2022
36258029Druggable transcriptomic pathways revealed in Parkinson's patient-derived midbrain neurons.NPJ Parkinsons Dis2022
34983064Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.Brain2022
35150594De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.Mov Disord2022
35063116Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial.Lancet Neurol2022
34997937Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study.Mov Disord2022
35328033Does the Expression and Epigenetics of Genes Involved in Monogenic Forms of Parkinson's Disease Influence Sporadic Forms?Genes (Basel)2022
34927205Motor neuron pathology in CANVAS due to RFC1 expansions.Brain2022
34668587Compensatory Mechanisms Nineâ¿¿Years Before Parkinson's Disease Conversion in a LRRK2 R1441H Family.Mov Disord2022
34788392NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.Brain2022
32557143Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease.J Mol Neurosci2021
33627829Response to Park et al.Genet Med2021
33486633Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.Neurogenetics2021
33589841Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.Nat Genet2021
33841314Clinical Variability of <i>SYNJ1</i>-Associated Early-Onset Parkinsonism.Front Neurol2021
33636389Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia.Neurobiol Dis2021
34489854Pathogenic Variants in <i>ABHD16A</i> Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.Front Neurol2021
34687211SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.Brain2021
33938021Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.Ann Neurol2021
34349004Plasma NfL levels and longitudinal change rates in <i>C9orf72</i> and <i>GRN</i>-associated diseases: from tailored references to clinical applications.J Neurol Neurosurg Psychiatry2021
33958783Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease.Nat Genet2021
33983118Propensity for somatic expansion increases over the course of life in Huntington disease.Elife2021
33980708Primary Progressive Aphasia Associated With <i>GRN</i> Mutations: New Insights Into the Nonamyloid Logopenic Variant.Neurology2021
34231651Monogenic PD in Brazil: a step towards precision medicine.Arq Neuropsiquiatr2021
33137232Automated Categorization of Parkinsonian Syndromes Using Magnetic Resonance Imaging in a Clinical Setting.Mov Disord2021
33002231Differences in the Presentation and Progression of Parkinson's Disease by Sex.Mov Disord2021
32873436Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease.Neurobiol Aging2021
31262553The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency.Neurobiol Aging2020
31755958Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.Brain2020
31810826Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.Lancet Neurol2020
31855245Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.Brain2020
33193012Novel Homozygous Missense Mutation in the <i>ARG1</i> Gene in a Large Sudanese Family.Front Neurol2020
  • 1 - 50 of 813

Recommended Authors

Susan Byrne
Royal College of Surgeons in Ireland
Career Start Year 2010
Number of shared co-authors 0
Eva C Schulte
Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital
Career Start Year 2009
Number of shared co-authors 44
Saskia Biskup
Center for Genomics and Transcriptomics (CeGaT)
Career Start Year 2004
Number of shared co-authors 32
Dragana Josifova
Guy's and St Thomas' Hospital
Career Start Year 2000
Number of shared co-authors 15
Wojciech Wiszniewski
Oregon Health & Sciences University
Career Start Year 1998
Number of shared co-authors 6
Joanna C Jen
university of california los angeles Medical School
Career Start Year 1997
Number of shared co-authors 5
Zoran Brkanac
University of Washington
Career Start Year 1996
Number of shared co-authors 15
Kym M Boycott
Children's Hospital of Eastern Ontario
Career Start Year 1996
Number of shared co-authors 31
Fuki M Hisama
University of Washington
Career Start Year 1996
Number of shared co-authors 12
Suman Jayadev
University of Washington
Career Start Year 1995
Number of shared co-authors 66
Franco Stanzial
Genetic Counseling Service - Regional Hospital of Bolzano
Career Start Year 1993
Number of shared co-authors 23
Mark Matsushita
University of Washington
Career Start Year 1992
Number of shared co-authors 5
Peter Hedera
University of Louisville
Career Start Year 1992
Number of shared co-authors 9
Rafa?? P??oski
Medical University of Warsaw
Career Start Year 1992
Number of shared co-authors 18
Rita Horvath
School of Clinical Medicine, University of Cambridge
Career Start Year 1991
Number of shared co-authors 34
Andrea Haworth
UCL Queen Square Institute of Neurology
Career Start Year 1989
Number of shared co-authors 11
Irma J??rvel??
University of Helsinki
Career Start Year 1989
Number of shared co-authors 18
Dong-Hui Chen
University of Washington School of Medicine
Career Start Year 1988
Number of shared co-authors 6
Hubert J M Smeets
Maastricht University Medical Centre+
Career Start Year 1987
Number of shared co-authors 7
Han G Brunner
Maastricht University Medical Centre
Career Start Year 1987
Number of shared co-authors 67
Camilo Toro
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1986
Number of shared co-authors 14
Jennifer Friedman
University of California, Rady Children's Hospital San Diego
Career Start Year 1985
Number of shared co-authors 15
Alessandra Renieri
University of Siena
Career Start Year 1984
Number of shared co-authors 26
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Career Start Year 1983
Number of shared co-authors 19
Irenaeus F M de Coo
Unit Clinical Genomics, Maastricht University
Career Start Year 1982
Number of shared co-authors 10
James R Lupski
Baylor College of Medicine
Career Start Year 1981
Number of shared co-authors 43
Wendy H Raskind
University of Washington School of Medicine
Career Start Year 1978
Number of shared co-authors 18
Robert L Nussbaum
Invitae Corporation
Career Start Year 1976
Number of shared co-authors 28
David J Burn
Population Health Sciences Institute, Newcastle University
Career Start Year 1975
Number of shared co-authors 47
Gholson J Lyon
NYS Institute for Basic Research in Developmental Disabilities .
Career Start Year 1972
Number of shared co-authors 63

Collaborators

Alexandra Durr
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 327
Giovanni Stevanin
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 199
Nicholas W Wood
UCL Queen Square Institute of Neurology
Co-authored papers 57
Andrew B Singleton
National Institute on Aging
Co-authored papers 56
Sylvie Forlani
ICM DNA and Cell Bank CNRS UMR7225, INSERM U1127, Sorbonne University
Co-authored papers 44
Peter Heutink
German Center for Neurodegenerative Diseases (DZNE).
Co-authored papers 38
Mike A Nalls
Center for Alzheimer's and Related Dementias, National Institutes of Health
Co-authored papers 36
Bertrand Fontaine
Co-authored papers 27
Ali Benomar
Medical School and Pharmacy, University Mohammed V in Rabat
Co-authored papers 25
Huw R Morris
Queen Square Institute of Neurology, University College London
Co-authored papers 23
Françoise Clerget-Darpoux
Co-authored papers 22
Naima Bouslam
Specialties Hospital
Co-authored papers 19
Ahmed Bouhouche
Medical School and Pharmacy, University Mohammed V in Rabat
Co-authored papers 18
Tatiana Foroud
Indiana University School of Medicine
Co-authored papers 18
Guy A Rouleau
McGill University, Canada Montreal Neurological Institute and Hospital
Co-authored papers 14
Philippe Amouyel
Co-authored papers 13
Valentina Escott-Price
Co-authored papers 12
Enza Maria Valente
University of Pavia
Co-authored papers 12
John Q Trojanowski
University of Pennsylvania
Co-authored papers 12
Peter Lichtner
Co-authored papers 12
Massimo Pandolfo
Universite Libre de Bruxelles (ULB)
Co-authored papers 12
Jean Weissenbach
Institut Francois Jacob, CNRS, Universite Paris-Saclay
Co-authored papers 11
Ben A Oostra
Co-authored papers 11
John P A Ioannidis
Stanford University
Co-authored papers 10
Dennis W Dickson
Mayo Clinic Jacksonville
Co-authored papers 10
Diana Zelenika
Co-authored papers 10
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 10
Marion Leboyer
INSERM U
Co-authored papers 9
Daniela Galimberti
Co-authored papers 9
Peter Holmans
Co-authored papers 9
Release 1.2