Search - Archive ouverte HAL Access content directly

Filter your results

59 Results
Structure: Internal structure identifier : 177495

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations

Mirna Assoum , Matthew Lines , Orly Elpeleg , Véronique Darmency , Sharon Whiting et al.
American Journal of Medical Genetics Part A, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
Journal articles hal-01990608v1

Avec ou sans hypothèse ? Qu'attendre de la paléoépidémiologie ? Exemple à partir de l'étude d'un couvent breton des ordres mendiants

Rozenn Colleter , Henri Dabernat , Gauthier Aubert , Sylvie Duchesne , Fabrice Dedouit et al.
Archéologie de la santé, anthropologie du soin, Alain Froment; Hervé Guy, Nov 2016, Paris, France. pp.145-158
Conference papers hal-02309142v1
Image document

Analysis of shared heritability in common disorders of the brain

Verneri Anttila , Brenda Sullivan , Hilary Finucane , Walter Walters , Jose Bras et al.
Science, 2018, 360 (6395), eaap8757. ⟨10.1126/science.aap8757⟩
Journal articles cea-01870483v1
Image document

Are basic auditory processes involved in source-monitoring deficits in patients with schizophrenia?

Clément Dondé , Marine Mondino , David I. Leitman , Daniel C. Javitt , Marie-Françoise Suaud-Chagny et al.
Schizophrenia Research, 2019, 210, pp.135 - 142. ⟨10.1016/j.schres.2019.05.034⟩
Journal articles hal-03487937v1
Image document

Recent smell loss is the best predictor of COVID-19 among individuals with recent respiratory symptoms

Richard C. Gerkin , Kathrin Ohla , Maria G. Veldhuizen , Paule V. Joseph , Christine E. Kelly et al.
Chemical Senses, 2021, 46, pp.bjaa081. ⟨10.1093/chemse/bjaa081⟩
Journal articles hal-03367315v1
Image document

Associations of autozygosity with a broad range of human phenotypes

David J. Clark , Yukinori Okada , Kristjan Moore , Dan Mason , Nicola Pirastu et al.
Nature Communications, 2019, 10 (1), pp.4957. ⟨10.1038/s41467-019-12283-6⟩
Journal articles hal-02651737v1
Image document

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance Rodan , Rebecca Spillmann , Harley Kurata , Shawn Lamothe , Jasmine Maghera et al.
Genetics in Medicine, 2021, 23 (10), pp.1922-1932. ⟨10.1038/s41436-021-01232-8⟩
Journal articles hal-03519600v1
Image document

A framework for an evidence-based gene list relevant to autism spectrum disorder

Christian Schaaf , Catalina Betancur , Ryan Yuen , Jeremy Parr , David Skuse et al.
Nature Reviews Genetics, 2020, 21 (6), pp.367-376. ⟨10.1038/s41576-020-0231-2⟩
Journal articles inserm-03133319v1
Image document

A model for establishment, maintenance and reactivation of the immune response after vaccination against Ebola virus

Irene Balelli , Chloé Pasin , Mélanie Prague , Fabien Crauste , Thierry van Effelterre et al.
Journal of Theoretical Biology, 2020, 495, pp.110254. ⟨10.1016/j.jtbi.2020.110254⟩
Journal articles hal-03160892v2

Fusion Inhibitory Lipopeptides Engineered for Prophylaxis of Nipah Virus in Primates

Cyrille Mathieu , Matteo Porotto , Tiago Figueira , Branka Horvat , Anne Moscona et al.
Journal of Infectious Diseases, 2018, 218 (2), pp.218 - 227. ⟨10.1093/infdis/jiy152⟩
Journal articles hal-01924065v1
Image document

Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer’s Disease

Andre M Miranda , Mathieu Herman , Rong Cheng , Eden Nahmani , Geoffrey Barrett et al.
Cell Reports, 2018, 23 (10), pp.2967-2975. ⟨10.1016/j.celrep.2018.05.011⟩
Journal articles hal-02353412v1

The molecular landscape of glioma in patients with Neurofibromatosis 1

Fulvio d'Angelo , Michele Ceccarelli , Luciano Garofano , Jing Zhang , Véronique Frattini et al.
Nature Medicine, 2019, 25 (1), pp.176-187. ⟨10.1038/s41591-018-0263-8⟩
Journal articles hal-03905472v1
Image document

A metabolic function of FGFR3-TACC3 gene fusions in cancer

Véronique Frattini , Stefano M Pagnotta , Dr Tala , Jerry J Fan , Marco V Russo et al.
Nature, 2018, 553 (7687), pp.222-227. ⟨10.1038/nature25171⟩
Journal articles hal-01975294v1
Image document

Aborting meiosis allows recombination in sterile diploid yeast hybrids

Simone Mozzachiodi , Lorenzo Tattini , Agnes Llored , Agurtzane Irizar , Neža Škofljanc et al.
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-26883-8⟩
Journal articles hal-03474924v1

WHO's Global Clinical Practice Network for mental health

Gm Reed , Tj Rebello , Km Pike , Me Medina-Mora , O Gureje et al.
The Lancet. Psychiatry, 2015, 2 (5), pp.379-380. ⟨10.1016/S2215-0366(15)00183-2⟩
Journal articles hal-03479893v1

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder

Alban Ziegler , Katharina Steindl , Ashleigh Hanner , Rajesh Kumar Kar , Clément Prouteau et al.
American Journal of Human Genetics, 2022, 109 (8), pp.1549-1558. ⟨10.1016/j.ajhg.2022.06.010⟩
Journal articles hal-03861090v1

Intrinsic differences in rod and cone membrane composition: implications for cone degeneration

Daniela Verra , Perrine Spinnhirny , Cristina Sandu , Stéphane Grégoire , Niyazi Acar et al.
Graefe's Archive for Clinical and Experimental Ophthalmology, 2022, pp.022-05684. ⟨10.1007/s00417-022-05684-9⟩
Journal articles hal-03712635v1

Open Source Drug Discovery with the Malaria Box Compound Collection for Neglected Diseases and Beyond

Wesley van Voorhis , John Adams , Roberto Adelfio , Vida Ahyong , Myles Akabas et al.
PLoS Pathogens, 2016, 12 (7), pp.e1005763. ⟨10.1371/journal.ppat.1005763⟩
Journal articles hal-02905407v1
Image document

Plasmodium falciparum K13 mutations in Africa and Asia impact artemisinin resistance and parasite fitness

Barbara H. Stokes , Satish K. Dhingra , Kelly Rubiano , Sachel Mok , Judith Straimer et al.
eLife, 2021, 10, pp.e66277. ⟨10.7554/eLife.66277⟩
Journal articles pasteur-03291682v1

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

Andrea Accogli , Sara Calabretta , Judith St-Onge , Nassima Boudrahem-Addour , Alexandre Dionne-Laporte et al.
American Journal of Human Genetics, 2019, 105 (4), pp.854-868. ⟨10.1016/j.ajhg.2019.09.005⟩
Journal articles hal-02556784v1
Image document

Sub-diagnostic effects of genetic variants associated with autism

Thomas Rolland , Freddy Cliquet , Richard J. L. Anney , Clara Moreau , Nicolas Traut et al.
2022
Preprints, Working Papers, ... pasteur-03261138v2
Image document

Identification of a role for the PfEMP1 semi-conserved head structure in protein trafficking to the surface of Plasmodium falciparum infected red blood cells

Martin Melcher , Rebecca A. Muhle , Philipp P. Henrich , Susan M. Kraemer , Marion Avril et al.
Cellular Microbiology, 2010, 12 (10), pp.1446 - 1462. ⟨10.1111/j.1462-5822.2010.01481.x⟩
Journal articles pasteur-03506821v1

Erratum to: HDAC6 activity is a non-oncogene addiction hub for inflammatory breast cancers

Preeti Putcha , Jiyang Yu , Ruth Rodriguez-Barrueco , Laura Saucedo-Cuevas , Patricia Villagrasa et al.
Breast Cancer Research, 2017, 19 (1), pp.49. ⟨10.1186/s13058-017-0841-6⟩
Journal articles hal-03623716v1
Image document

A new muscle glycogen storage disease associated with glycogenin-1 deficiency

Edoardo Malfatti , Johanna Nilsson , Carola Hedberg-Oldfors , Aurelio Hernandez-Lain , Fabrice Michel et al.
Annals of Neurology, 2014, 76 (6), pp.891 - 898. ⟨10.1002/ana.24284⟩
Journal articles hal-01699463v1
Image document

Emergence and clonal expansion of in vitro artemisinin-resistant Plasmodium falciparum kelch13 R561H mutant parasites in Rwanda

Aline Uwimana , Eric Legrand , Barbara Stokes , Jean-Louis Mangala Ndikumana , Marian Warsame et al.
Nature Medicine, 2020, ⟨10.1038/s41591-020-1005-2⟩
Journal articles pasteur-02911712v1
Image document

Non-congenital severe ocular complications of Zika virus infection

Mussaret B Zaidi , C Gustavo de Moraes , Michele Petitto , Juan B Yepez , Anavaj Sakuntabhai et al.
JMM Case reports, 2018, 5 (6), pp.e005152. ⟨10.1099/jmmcr.0.005152⟩
Journal articles pasteur-02003842v1
Image document

Translating Molecules into Imaging—The Development of New PET Tracers for Patients with Melanoma

Laetitia Vercellino , Dorine de Jong , Laurent Dercle , Benoit Hosten , Brian Braumuller et al.
Diagnostics, 2022, 12 (5), pp.1116. ⟨10.3390/diagnostics12051116⟩
Journal articles inserm-03924844v1
Image document

Excessive self-grooming of $Shank3$ mutant mice is associated with gene dysregulation and imbalance between the striosome and matrix compartments in the striatum

Allain-Thibeault Ferhat , Anne Biton , Elisabeth Verpy , Benoit Forget , Fabrice de Chaumont et al.
2022
Preprints, Working Papers, ... hal-03803866v1
Image document

Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation

Christine Y. Kim , Thomas Wirth , Cécile Hubsch , Andrea H. Nemeth , Volkan Okur et al.
Annals of Neurology, 2020, 88 (5), pp.1028-1033. ⟨10.1002/ana.25863⟩
Journal articles hal-03698378v1

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Hieab H H Adams , Derrek P Hibar , Vincent Chouraki , Jason L Stein , Paul A Nyquist et al.
Nature Neuroscience, 2016, 19 (12), pp.1569-1582. ⟨10.1038/nn.4398⟩
Journal articles hal-01382716v1