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	Pour les 38 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

		Rituximab treatment in seronegative autoimmune autonomic neuropathy and autoimmune autonomic ganglionopathy: Case-report and literature review M. Bouxin , B. Schvartz , S. Mestrallet , A. Debrumetz , Maxime Hentzien , et al. Journal of Neuroimmunology, 2019, 326, pp.28-32. ⟨10.1016/j.jneuroim.2018.11.009⟩ Article dans une revue hal-02883130v1	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
		Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review Xavier Ayrignac , Gaël Nicolas , Clarisse Carra-Dallière , Didier Hannequin , Pierre Labauge JAMA neurology, 2017, 74 (8), pp.1000--1008. ⟨10.1001/jamaneurol.2017.1062⟩ Article dans une revue hal-01760467v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings Maud Blanluet , Sandra Chantot-Bastaraud , Pascal Chambon , Kévin Cassinari , Gabriella Vera , et al. American Journal of Medical Genetics Part A, 2021, 185 (10), pp.3057-3061. ⟨10.1002/ajmg.a.62361⟩ Article dans une revue inserm-03856026v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Dementia in middle-aged patients with schizophrenia. Gaël Nicolas , Laurène Beherec , Didier Hannequin , Gaëlle Opolczynski , Maud Rothärmel , et al. Journal of Alzheimer's Disease, 2014, 39 (4), pp.809-22 Article dans une revue hal-01141155v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Primary brain calcification: an international study reporting novel variants and associated phenotypes Eliana Marisa Ramos , Miryam Carecchio , Roberta Lemos , Joana Ferreira , Andrea Legati , et al. European Journal of Human Genetics, 2018, 26 (10), pp.1462-1477. ⟨10.1038/s41431-018-0185-4⟩ Article dans une revue hal-02540078v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export A. Legati* , D. Giovannini* , G. Nicolas , U. Lopez-Sanchez , B. Quintans , et al. Nature Genetics, 2015, 47 (6), pp.579--81. ⟨10.1038/ng.3289ng.3289[pii]⟩ Article dans une revue hal-02187402v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease Henne Holstege , Marc Hulsman , Camille Charbonnier , Benjamin Grenier-Boley , Olivier Quenez , et al. Nature Genetics, 2022, 54 (12), pp.1786-1794. ⟨10.1038/s41588-022-01208-7⟩ Article dans une revue hal-04277872v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing Thomas Husson , Jean-Baptiste Duboc , Olivier Quenez , Camille Charbonnier , Maud Rothärmel , et al. Translational Psychiatry, 2018, 8 (1), pp.268. ⟨10.1038/s41398-018-0291-7⟩ Article dans une revue hal-02540043v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Slc20a2 , Encoding the Phosphate Transporter PiT2, Is an Important Genetic Determinant of Bone Quality and Strength Sarah Beck‐cormier , Christopher J. Lelliott , John Logan , David Lafont , Laure Merametdjian , et al. Journal of Bone and Mineral Research, 2019, 34 (6), pp.1101-1114/e3691. ⟨10.1002/jbmr.3691⟩ Article dans une revue hal-02333779v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes. Isabelle Le Ber , Inge van Bortel , Gael Nicolas , Kawtar Bouya-Ahmed , Agnès Camuzat , et al. Neurobiology of Aging, 2014, 35 (4), pp.934.e5-6 Article dans une revue hal-01245808v1	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
		Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export Andrea Legati , Donatella Giovannini , Gaël Nicolas , Uriel López-Sánchez , Beatriz Quintáns , et al. Nature Genetics, 2015, 47 (6), pp.579-581. ⟨10.1038/ng.3289⟩ Article dans une revue hal-02109489v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer’s Disease Guillaume Seret , Marc Hulsman , Camille Charbonnier , Benjamin Grenier-Boley , Olivier Quenez , et al. 2022 Pré-publication, Document de travail hal-03706764v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use Thomas Husson , François Lecoquierre , Kevin Cassinari , Camille Charbonnier , Olivier Quenez , et al. Translational Psychiatry, 2020, 10 (1), pp.77. ⟨10.1038/s41398-020-0760-7⟩ Article dans une revue hal-02538173v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication Lou Grangeon , Kévin Cassinari , Stéphane Rousseau , Bernard Croisile , Maïté Formaglio , et al. Neurology Genetics, 2021, 7 (5), pp.e609. ⟨10.1212/NXG.0000000000000609⟩ Article dans une revue hal-03582558v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Integrated modeling of transition scenarios towards climate-smart agriculture based on agro-ecology and territorial bio-economy Jean-Marc Blazy , Solene Guillot , Loic Guinde , Régis Tournebize , Matthieu Duval , et al. 6. International Symposium for Farming Systems Design : FSD6, Universidad de la República (UdelaR). Montevideo, URY.; Instituto Nacional de Tecnología Agropecuaria (INTA). ARG., Aug 2019, Montevideo, Uruguay. 3 p Communication dans un congrès hal-02790723v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work O. Gebus , S. Montaut , B. Monga , T. Wirth , C. Cheraud , et al. Journal of Neurology, 2017, 264 (6), pp.1118--1126. ⟨10.1007/s00415-017-8500-5⟩ Article dans une revue hal-01761700v1	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
		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
		Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Gaël Nicolas , Cyril Pottier , Camille Charbonnier , Lucie Guyant-Maréchal , Isabelle Le Ber , et al. Brain - A Journal of Neurology , 2013, 136 (Pt 11), pp.3395-407. ⟨10.1093/brain/awt255⟩ Article dans une revue hal-01133847v1	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
		Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease Gaël Nicolas , Rocio Acuna-Hidalgo , Michael Keogh , Olivier Quenez , Marloes Steehouwer , et al. Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2018, 14 (12), pp.1632-1639. ⟨10.1016/j.jalz.2018.06.3056⟩ Article dans une revue hal-02540061v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes Catherine Schramm , Camille Charbonnier , Aline Zaréa , Morgane Lacour , David Wallon , et al. Genome Medicine, 2022, 14 (1), pp.69. ⟨10.1186/s13073-022-01070-6⟩ Article dans une revue hal-03971905v1	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
		Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder François Lecoquierre , Antoine Bonnevalle , Alexandra Chadie , Claire Gayet , Clémentine Dumant-Forest , et al. American Journal of Medical Genetics Part A, 2019, 179 (11), pp.2257-2262. ⟨10.1002/ajmg.a.61317⟩ Article dans une revue hal-02356422v1	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
		Exome sequencing identifies the first genetic determinants of sirenomelia in humans François Lecoquierre , Anne‐claire Brehin , Sophie Coutant , Juliette Coursimault , Anne Bazin , et al. Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩ Article dans une revue hal-02538246v1	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
		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

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Rituximab treatment in seronegative autoimmune autonomic neuropathy and autoimmune autonomic ganglionopathy: Case-report and literature review

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

Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review

Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings

Dementia in middle-aged patients with schizophrenia.

Primary brain calcification: an international study reporting novel variants and associated phenotypes

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing

Slc20a2 , Encoding the Phosphate Transporter PiT2, Is an Important Genetic Determinant of Bone Quality and Strength

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

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

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer’s Disease

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication

Integrated modeling of transition scenarios towards climate-smart agriculture based on agro-ecology and territorial bio-economy

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

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

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

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

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

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

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

Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder

ABCA7 rare variants and Alzheimer disease risk

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

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

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