Alexis Brice

发表

Implication of the immune system in Alzheimer's disease: evidence from genome-wide pathway analysis.

Simon Heath, Christophe Tzourio, Philippe Amouyel, 2010, Journal of Alzheimer's disease : JAD.

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease

Aldo Quattrone, Nobutaka Hattori, Anthony E. Lang, 2011, Neurobiology of Aging.

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Eden R Martin, Seth Love, Brian Lawlor, 2019, Nature Genetics.

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

Bertrand Fontaine, Patrick Wincker, Jean Weissenbach, 1999, Nature Genetics.

Complex relationship between Parkin mutations and Parkinson disease.

Jean-François Deleuze, Vincenzo Bonifati, Thomas Gasser, 2002, American journal of medical genetics.

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases

Nicholas W Wood, Andre Franke, Manu Sharma, 2017, JAMA neurology.

Parkinson's disease patients show reduced cortical‐subcortical sensorimotor connectivity

Habib Benali, Vincent Perlbarg, Romain Valabregue, 2013, Movement disorders : official journal of the Movement Disorder Society.

Frontotemporal dementia and its subtypes: a genome-wide association study

Alexander Gerhard, Adrian Danek, Luigi Ferrucci, 2014, The Lancet Neurology.

Genetics of Parkinson's disease and biochemical studies of implicated gene products.

Peter T Lansbury, P. Lansbury, A. Brice, 2002, Current opinion in cell biology.

How much phenotypic variation can be attributed to parkin genotype?

Alexandra Durr, Valérie Fraix, Vincenzo Bonifati, 2003, Annals of neurology.

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

Nicholas W. Wood, Thomas Gasser, John Hardy, 2015, Neurology: Genetics.

Perspective on future role of biological markers in clinical therapy trials of Alzheimer's disease: a long-range point of view beyond 2020.

Olivier Colliot, Stéphane Lehéricy, Hovagim Bakardjian, 2014, Biochemical pharmacology.

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

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

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

Mohamad Saad, Nicholas W Wood, Manu Sharma, 2011, The Lancet.

Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines.

Nobutaka Hattori, Hiroyuki Aburatani, Hiroyuki Tomiyama, 2010, American journal of human genetics.

What genetics tells us about the causes and mechanisms of Parkinson's disease.

A. Brice, S. Lesage, O. Corti, 2011, Physiological reviews.

First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

Michel Baulac, Stéphanie Baulac, Roberto Bruzzone, 2001, Nature Genetics.

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

Dagmar Nolte, Ulrich Müller, S. Pulst, 2006, Nature Genetics.

Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.

Stéphane Thobois, Yves Agid, Pablo Ibáñez, 2006, Brain : a journal of neurology.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Oriane Trouillard, Christel Depienne, Emmanuel Roze, 2014, Nature Genetics.

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.

Lateral Temporal Lobe: An Early Imaging Marker of the Presymptomatic GRN Disease?

Stanley Durrleman, Habib Benali, Olivier Colliot, 2015, Journal of Alzheimer's disease : JAD.

The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q

Uta Francke, U. Francke, A. Brice, 1999, Human Genetics.

Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease

Patrick M. Abou-Sleiman, Nicholas W. Wood, Andrew West, 2009, Nature Cell Biology.

Genome-Wide Scan for Autism Susceptibility Genes

Christopher Gillberg, Maria Råstam, Marion Leboyer, 1999 .

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

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

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Stéphanie Baulac, Andrew Escayg, Miriam H. Meisler, 2000, Nature Genetics.

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

Jean-François Dartigues, Günther Deuschl, Yoav Ben-Shlomo, 2017, Genome Biology.

Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse.

Santiago Canals, S. Canals, A. Brice, 2003, Human molecular genetics.

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Yves Agid, Jean-Louis Mandel, Gaël Yvert, 1996, Nature Genetics.

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

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

A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism

Jean-François Deleuze, Bruno Dubois, Didier Hannequin, 2003, Neuroscience Letters.

Proteomic analysis of parkin knockout mice: alterations in energy metabolism, protein handling and synaptic function

A. Brice, M. Periquet, O. Corti, 2005, Journal of neurochemistry.

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Elodie Ey, Thomas Bourgeron, Roberto Toro, 2014, PLoS genetics.

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

Margaret Sutherland, John P A Ioannidis, Daniel Weintraub, 2015, The Lancet Neurology.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Nick C. Fox, Pietro Pietrini, Alexander Gerhard, 2018, Nature Medicine.

Differential distribution of the normal and mutated forms of huntingtin in the human brain

Yves Agid, Laszlo Tora, E. Hirsch, 1997, Annals of neurology.

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk.

Peter Holmans, Alexandra Durr, Manu Sharma, 2013, JAMA neurology.

A Multitracer Dopaminergic PET Study of Young-Onset Parkinsonian Patients With and Without Parkin Gene Mutations

Bruno Dubois, Stéphane Thobois, Emmanuel Broussolle, 2009, Journal of Nuclear Medicine.

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

Paola Giunti, Alexandra Durr, Robyn Labrum, 2015, The Lancet Neurology.

Spinocerebellar ataxia 3 and machado‐joseph disease: Clinical, molecular, and neuropathological features

Alexandra Durr, Charles Duyckaerts, Yves Agid, 1996, Annals of neurology.

Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

Patrizia Rizzu, Vincenzo Bonifati, Elmar Krieger, 2002, Science.

Use of support vector machines for disease risk prediction in genome‐wide association studies: Concerns and opportunities

Andreas Zell, Andreas Jahn, Mohamad Saad, 2012, Human mutation.

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.

Spectrin mutations cause spinocerebellar ataxia type 5

J. Rothstein, A. Dürr, A. Brice, 2006, Nature Genetics.

Young-onset Parkinson disease with and without parkin gene mutations: a fluorodopa F 18 positron emission tomography study.

Nicolas Costes, Maria-Joao Ribeiro, Stéphane Thobois, 2003, Archives of neurology.

G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome

Ronald Melki, Christophe Verny, A. Dürr, 2013, Annals of neurology.

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.

Mohamad Saad, Peter Holmans, Nicholas W Wood, 2013, Human molecular genetics.

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.

Mohamad Saad, Alexandra Durr, Christophe Tzourio, 2011, Human molecular genetics.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

Alexandra Durr, Chokri Mhiri, Stephan Züchner, 2013, American journal of human genetics.

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

Nicholas W. Wood, Matthew J. Farrer, Vincenzo Bonifati, 1999, Neuroscience Letters.