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Anne-Louise Leutenegger

27
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An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease

Chaker Aloui , Lisa Neumann , Françoise Bergametti , Eric Sartori , Marc Herbreteau
JAMA Network Open, 2024, 7 (4), pp.e247034. ⟨10.1001/jamanetworkopen.2024.7034⟩
Journal articles hal-04563144v1
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Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex

Fatimat Almentina Ramos Shidi , Audric Cologne , Marion Delous , Alicia Besson , Audrey Putoux
Nucleic Acids Research, 2022, ⟨10.1093/nar/gkac1182⟩
Journal articles hal-03913654v1

Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium

Thérèse Truong , Fabienne Lesueur , Pierre Emmanuel Sugier , Julie Guibon , Constance Xhaard
International Journal of Cancer, 2021, 148 (12), pp.2935-2946. ⟨10.1002/ijc.33488⟩
Journal articles hal-03288145v1

Novel Chronic Mouse Model of Cerebral Cavernous Malformations

Cécile Cardoso , Minh Arnould , Coralie de Luca , Cécile Otten , Salim Abdelilah-Seyfried
Stroke, 2020, 51 (4), pp.1272-1278. ⟨10.1161/STROKEAHA.119.027207⟩
Journal articles hal-02613690v1
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Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

Clara Benoit-Pilven , Alicia Besson , Audrey Putoux , Claire Benetollo , Clément Saccaro
PLoS ONE, 2020, 15 (7), pp.e0235655. ⟨10.1371/journal.pone.0235655⟩
Journal articles inserm-02915106v1
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Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy

T. Nutile , D. Ruggiero , A. Herzig , A. Tirozzi , S. Nappo
Scientific Reports, 2019, 9, pp.4059. ⟨10.1038/s41598-019-41022-6⟩
Journal articles hal-02151153v1
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New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients

Audric Cologne , Clara Benoit-Pilven , Alicia Besson , Audrey Putoux , Amandine Campan-Fournier
RNA, 2019, pp.1-21. ⟨10.1261/rna.071423.119⟩
Journal articles hal-02305628v1

Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy

T. Nutile , D. Ruggiero , A. Herzig , A. Tirozzi , S. Nappo
Scientific Reports, 2019, 9 (1), pp.4059. ⟨10.1038/s41598-019-41022-6⟩
Journal articles hal-04278376v1

Detecting the dominance component of heritability in isolated and outbred human populations

Anthony Francis Herzig , Teresa Nutile , Daniela Ruggiero , Marina Ciullo , Hervé Perdry
Scientific Reports, 2018, 8 (1), ⟨10.1038/s41598-018-36050-7⟩
Journal articles hal-02151167v1

Strategies for phasing and imputation in a population isolate

Anthony Francis Herzig , Teresa Nutile , Marie‐claude Babron , Marina Ciullo , Céline Bellenguez
Genetic Epidemiology, 2018, 42 (2), pp.201-213. ⟨10.1002/gepi.22109⟩
Journal articles hal-04278379v1
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Strategies for Phasing and Imputation in a Population Isolate

Anthony Francis Herzig , Teresa Nutile , Marie-Claude Babron , Marina Ciullo , Céline Bellenguez
Genetic Epidemiology, 2017, Epub ahead of print. ⟨10.1002/gepi.22109⟩
Journal articles inserm-01645064v1

Variation in worldwide incidence of amyotrophic lateral sclerosis: a meta-analysis.

Benoît Marin , Farid Boumédiène , Giancarlo Logroscino , Philippe Couratier , Marie-Claude Babron
International Journal of Epidemiology, 2016
Journal articles hal-01320274v1
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Suzanne Lesage , Valérie Drouet , Elisa Majounie , Vincent Deramecourt , Maxime Jacoupy
American Journal of Human Genetics, 2016, 98 (3), pp.500-513. ⟨10.1016/j.ajhg.2016.01.014⟩
Journal articles hal-01289266v1
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Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies

Seung Hoan Choi , Daniela Ruggiero , Rossella Sorice , Ci Song , Teresa Nutile
PLoS Genetics, 2016, 12 (2), pp.e1005874. ⟨10.1371/journal.pgen.1005874⟩
Journal articles hal-01708531v1

Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin.

Benoît Marin , Giancarlo Logroscino , Farid Boumédiène , Anaïs Labrunie , Philippe Couratier
European Journal of Epidemiology, 2015
Journal articles hal-01217277v1
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Inbreeding Coefficient Estimation with Dense SNP Data: Comparison of Strategies and Application to HapMap III

Steven Gazal , Mourad Sahbatou , Hervé Perdry , Sébastien Letort , Emmanuelle Génin
Human Heredity, 2014, 77, pp.49 - 62. ⟨10.1159/000358224⟩
Journal articles inserm-01084018v1
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FSuite: exploiting inbreeding in dense SNP chip and exome data

Steven Gazal , Mourad Sahbatou , Marie-Claude Babron , Emmanuelle Génin , Anne-Louise Leutenegger
Bioinformatics, 2014, 30, pp.1940 - 1941. ⟨10.1093/bioinformatics/btu149⟩
Journal articles inserm-01085236v2
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FSuite: exploiting inbreeding in dense SNP chip and exome data.

Steven Gazal , Mourad Sahbatou , Marie-Claude Babron , Emmanuelle Génin , Anne-Louise Leutenegger
Bioinformatics, 2014, 30 (13), pp.1940-1. ⟨10.1093/bioinformatics/btu149⟩
Journal articles inserm-01023821v1

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.

Patrick Edery , Charles Marcaillou , Mourad Sahbatou , Audrey Labalme , Joelle Chastang
Science, 2011, 332 (6026), pp.240-3. ⟨10.1126/science.1202205⟩
Journal articles hal-01017145v1
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Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data.

Ozren Polašek , Caroline Hayward , Céline Bellenguez , Veronique Vitart , Ivana Kolčić
BMC Genomics, 2010, 11 (1), pp.139. ⟨10.1186/1471-2164-11-139⟩
Journal articles inserm-00663772v1
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Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.

Suzanne Lesage , Etienne Patin , Christel Condroyer , Anne-Louise Leutenegger , Ebba Lohmann
Human Molecular Genetics, 2010, 19 (10), pp.1998-2004. ⟨10.1093/hmg/ddq081⟩
Journal articles inserm-00522011v1

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.

Suzanne Lesage , Sabine Janin , Ebba Lohmann , Anne-Louise Leutenegger , Laurence Leclere
Archives of Neurology -Chigago-, 2007, 64 (3), pp.425-430
Journal articles hal-00194970v1

LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs.

Suzanne Lesage , Alexandra Dürr , Meriem Tazir , Ebba Lohmann , Anne-Louise Leutenegger
New England Journal of Medicine, 2006, 354 (4), pp.422-3. ⟨10.1056/NEJMc055540⟩
Journal articles hal-00221453v1
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Detection of susceptibility loci by genome-wide linkage analysis.

Marie-Claude Babron , Catherine Bourgain , Anne-Louise Leutenegger , Françoise Clerget-Darpoux
BMC Genetics, 2005, 6 Suppl 1, pp.S18. ⟨10.1186/1471-2156-6-S1-S18⟩
Journal articles inserm-00089254v1
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Modeling the effect of a genetic factor for a complex trait in a simulated population.

Mathieu Bourgey , Anne-Louise Leutenegger , Emmanuelle Cousin , Catherine Bourgain , Marie-Claude Babron
BMC Genetics, 2005, 6 Suppl 1, pp.S87. ⟨10.1186/1471-2156-6-S1-S87⟩
Journal articles inserm-00089272v1

Ethnic differences in the phenotype and outcome of Amyotrophic Lateral Sclerosis: A meta-analysis of population-based studies

Benoît Marin , Giancarlo Logroscino , Farid Boumédiène , Anaïs Labrunie , Marie-Claude Babron
The American Academy of neurology 67th Annual meeting, Apr 2015, Washington DC, United States. 84 (14 (Suppl P4)), pp.143, Neurology
Conference poster hal-01224487v1

Ethic differences in the incidence of Amyotrophic Lateral Sclerosis: a meta-analysis of population-based studies.

Benoît Marin , Farid Boumédiène , Giancarlo Logroscino , Marie-Claude Babron , Anne-Louise Leutenegger
The American Academy of neurology 6th Annual Meeting, Apr 2015, Washington DC, United States. Neurology, 84 (14 (Supplément P4)), pp.151
Conference poster hal-01224326v1