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	Pour les 31 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Corinne Pottier , D. Hannequin , S. Coutant , A. Rovelet-Lecrux , D. Wallon , et al. Molecular Psychiatry, 2012, 17 (9), pp.875-9. ⟨10.1038/mp.2012.15⟩ Article dans une revue hal-00965204v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review François Sellal , David Wallon , Laurent Martinez-Almoyna , Cecilia Marelli , Abhinav Dhar , et al. Journal of Alzheimer's Disease, 2016, ⟨10.3233/JAD-160709⟩ Article dans une revue hal-01425503v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Generation of induced pluripotent stem cells (iPSCs) IRMBi002-A from an Alzheimer's disease patient carrying a D694N mutation in the APP gene L. Auboyer , C. Monzo , D. Wallon , A. Rovelet-Lecrux , A. Gabelle , et al. Stem Cell Research, 2019, 37, pp.101438. ⟨10.1016/j.scr.2019.101438⟩ Article dans une revue hal-02863304v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Seizures in dominantly inherited Alzheimer disease Aline Zarea , Camille Charbonnier , Anne Rovelet-Lecrux , Gaël Nicolas , Stéphane Rousseau , et al. Neurology, 2016, 87 ((9)), pp.912-9. ⟨10.1212/WNL.0000000000003048⟩ Article dans une revue inserm-01371485v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Detection of all adult Tau isoforms in a 3D culture model of iPSC-derived neurons Laetitia Miguel , Anne Rovelet-Lecrux , Maxime Feyeux , Thierry Frebourg , Pierre Nassoy , et al. Stem Cell Research, 2019, 40, pp.101541. ⟨10.1016/j.scr.2019.101541⟩ Article dans une revue hal-03038792v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer’s Disease Emmanuelle Boscher , Thomas Husson , Olivier Quenez , Annie Laquerrière , Florent Marguet , et al. Journal of Alzheimer's Disease, 2019, 68 (3), pp.1243-1255. ⟨10.3233/JAD-180940⟩ Article dans une revue hal-02539727v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD. Anne-Claire Richard , Anne Rovelet-Lecrux , Elsa Delaby , Camille Charbonnier , Bhooma Thiruvahindrapuram , et al. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2016, 171B (3), pp.377-82. ⟨10.1002/ajmg.b.32416⟩ Article dans une revue inserm-01289348v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature Quitterie Rochoux , Jana Sopkova-de Oliveira Santos , Christian Marcelli , Anne Rovelet-Lecrux , Virginie Chevallier , et al. Biomolecules, 2021, 11 (10), pp.1460. ⟨10.3390/biom11101460⟩ Article dans une revue hal-03503299v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome Juliette Coursimault , Anne Rovelet-Lecrux , Kévin Cassinari , Elise Brischoux-Boucher , Pascale Saugier-Veber , et al. Human Mutation, 2022, 43 (9), pp.1239-1248. ⟨10.1002/humu.24384⟩ Article dans une revue hal-03822689v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Partial deletion of the MAPT gene: A novel mechanism of FTDP-17 Anne Rovelet-Lecrux , Magalie Lecourtois , Catherine Thomas-Antérion , Isabelle Le Ber , Alexis Brice , et al. Human Mutation, 2009, 30 (4), pp.E591-E602. ⟨10.1002/humu.20979⟩ Article dans une revue istex hal-02332588v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Generation of induced pluripotent stem cells (IRMBi001-A) from an Alzheimer's disease patient carrying a G217D mutation in the PSEN1 gene L. Auboyer , C. Monzo , D. Wallon , A. Rovelet-Lecrux , A. Gabelle , et al. Stem Cell Research, 2019, 34, pp.101381. ⟨10.1016/j.scr.2018.101381⟩ Article dans une revue hal-02927150v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutation in the 3’untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy Gaël Nicolas , David Wallon , Claudia Goupil , Anne-Claire Richard , Cyril Pottier , et al. European Journal of Human Genetics, 2015, 24 (1), pp.92-98. ⟨10.1038/ejhg.2015.61⟩ Article dans une revue hal-01234142v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers. David Wallon , Stéphane Rousseau , Anne Rovelet-Lecrux , Muriel Quillard-Muraine , Lucie Guyant-Maréchal , et al. Journal of Alzheimer's Disease, 2012, 30 (4), pp.847-56. ⟨10.3233/JAD-2012-120172⟩ Article dans une revue hal-00965220v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Intrafamilial diversity of phenotype associated with app duplication. I. Guyant-Marechal , Eric Berger , A. Laquerrière , A. Rovelet-Lecrux , G. Viennet , et al. Neurology, 2008, 71 (23), pp.1925-6. ⟨10.1212/01.wnl.0000339400.64213.56⟩ Article dans une revue hal-00482227v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics Gaël Nicolas , Myriam Sevigny , François Lecoquierre , Florent Marguet , Andréanne Deschenes , et al. Acta Neuropathologica Communications, 2022, 10 (1), pp.20. ⟨10.1186/s40478-022-01314-x⟩ Article dans une revue cea-04352529v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression K. Le Guennec , O. Quenez , G. Nicolas , D. Wallon , S. Rousseau , et al. Molecular Psychiatry, 2017, Equipe I, 22 (8), pp.1119--1125. ⟨10.1038/mp.2016.226⟩ Article dans une revue hal-01832142v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases Hélène-Marie Lanoiselée , Gaël Nicolas , David Wallon , Anne Rovelet-Lecrux , Morgane Lacour , et al. PLoS Medicine, 2017, 14 (3), pp.e1002270. ⟨10.1371/journal.pmed.1002270⟩ Article dans une revue hal-01767838v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification G. Nicolas , Cyril Pottier , D. Maltete , S. Coutant , A. Rovelet-Lecrux , et al. Neurology, 2013, 80 (2), pp.181-187. ⟨10.1212/WNL.0b013e31827ccf34⟩ Article dans une revue hal-02369478v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease. Anne Rovelet-Lecrux , Solenn Legallic , David Wallon , Jean-Michel Flaman , Olivier Martinaud , et al. European Journal of Human Genetics, 2012, 20 (6), pp.613-7. ⟨10.1038/ejhg.2011.225⟩ Article dans une revue hal-00965208v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease Anne Rovelet-Lecrux , Sebastien Feuillette , Laetitia Miguel , Catherine Schramm , Ségolène Pernet , et al. Acta Neuropathologica Communications, 2021, 9, ⟨10.1186/s40478-021-01294-4⟩ Article dans une revue hal-03512083v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		ABCA7 rare variants and Alzheimer disease risk Kilan Le Guennec , Gaël Nicolas , Olivier Quenez , Camille Charbonnier , David Wallon , et al. Neurology, 2016, Equipe 4, 86 (23), pp.2134--2137. ⟨10.1212/WNL.0000000000002627⟩ Article dans une revue hal-01831744v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations Kevin Cassinari , Olivier Quenez , Géraldine Joly-Helas , Ludivine Beaussire , Nathalie Le Meur , et al. Clinical Chemistry, 2019, 65 (9), pp.1153-1160. ⟨10.1373/clinchem.2019.304246⟩ Article dans une revue hal-02339190v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype Lou Grangeon , David Wallon , Camille Charbonnier , Olivier Quenez , Anne-Claire Richard , et al. Brain - A Journal of Neurology , 2019, 142 (6), pp.1573-1586. ⟨10.1093/brain/awz095⟩ Article dans une revue hal-02538301v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation Olivier Quenez , Kevin Cassinari , Sophie Coutant , Francois Lecoquierre , Kilan Le Guennec , et al. 2019 Pré-publication, Document de travail hal-02317979v2	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 Years Morgane Lacour , Olivier Quenez , Anne Rovelet-Lecrux , Bruno Salomon , Stéphane Rousseau , et al. Journal of Alzheimer's Disease, 2019, 71 (1), pp.227-243. ⟨10.3233/JAD-190193⟩ Article dans une revue hal-02332506v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons Gaël Nicolas , David Wallon , Camille Charbonnier , Olivier Quenez , Stéphane Rousseau , et al. European Journal of Human Genetics, 2016, 24 (5), pp.710-716. ⟨10.1038/ejhg.2015.173⟩ Article dans une revue hal-01431285v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Isabelle Le Ber , Agnès Camuzat , Didier Hannequin , Florence Pasquier , Eric Guedj , et al. Brain - A Journal of Neurology , 2008, 131 (Pt 3), pp.732-46. ⟨10.1093/brain/awn012⟩ Article dans une revue istex hal-00280762v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Detection of all adult Tau isoforms in a 3D culture model of iPSC-derived neurons Laetitia Miguel , Anne Rovelet-Lecrux , Maxime Feyeux , Thierry Frebourg , Pierre Nassoy , et al. Stem Cell Research, 2019, 40, pp.101541. ⟨10.1016/j.scr.2019.101541⟩ Article dans une revue hal-02329946v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation Olivier Quenez , Kevin Cassinari , Sophie Coutant , Francois Lecoquierre , Kilan Le Guennec , et al. European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩ Article dans une revue hal-02883904v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing S. David , Jorge Ferreira , O. Quenez , A. Rovelet-Lecrux , A.-C. Richard , et al. European Journal of Human Genetics, 2016, 24 (11), pp.1630--1634. ⟨10.1038/ejhg.2016.50⟩ Article dans une revue hal-01397791v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

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

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review

Generation of induced pluripotent stem cells (iPSCs) IRMBi002-A from an Alzheimer's disease patient carrying a D694N mutation in the APP gene

Seizures in dominantly inherited Alzheimer disease

Detection of all adult Tau isoforms in a 3D culture model of iPSC-derived neurons

Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer’s Disease

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature

uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome

Partial deletion of the MAPT gene: A novel mechanism of FTDP-17

Generation of induced pluripotent stem cells (IRMBi001-A) from an Alzheimer's disease patient carrying a G217D mutation in the PSEN1 gene

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

The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.

Intrafamilial diversity of phenotype associated with app duplication.

A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

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

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.

Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease

ABCA7 rare variants and Alzheimer disease risk

A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation

Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 Years

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

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

Detection of all adult Tau isoforms in a 3D culture model of iPSC-derived neurons

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing