
Vincent Huin
Publications
M. Mirabelli, E. Chiefari, B. Arcidiacono, A. Salatino, A. Pascarella, M. Morelli, S. C. Credendino, F. S. Brunetti, A. Di Vito, A. Greco, Vincent Huin, F. Nicoletti, G. M. Pierantoni, M. Fedele, U. Aguglia, D. P. Foti, A. Brunetti
HMGA1 deficiency: a pathogenic link between tau pathology and insulin resistance.
EBioMedicine, 2025, EBioMedicine, 115, pp.105700. ⟨10.1016/j.ebiom.2025.105700⟩
N. Geoffre, P. Jaulent, C. Laurencin, Guillaume Carey, Luc Defebvre, M. Fabard, A. Wissocq, S. Bouquillon, Claire-Marie Dhaenens, Vincent Huin, S. Thobois
Two case reports of RAB39B deletion displaying highly variable parkinsonism.
Parkinsonism & related disorders, 2025, Parkinsonism Relat Disord, 135, pp.107824. ⟨10.1016/j.parkreldis.2025.107824⟩
Thomas Ollivier, David Devos, Gregory Kuchcinski, Luc Defebvre, Vincent Huin, Eugenie Mutez
Conservative iron chelation for VAC14: Two-year clinical-radiological follow-up.
J Parkinsons Dis, 2025, J Parkinsons Dis, pp.1877718X251331820. ⟨10.1177/1877718X251331820⟩
Mélanie Leroy, Anne Laure Aziz, Susanna Schraen, Vincent Deramecourt, Emilie Skrobala, Simon Lecerf, Florence Pasquier, Vincent Huin, Maxime Bertoux, Thibaud Lebouvier
Comparing high and low amyloid producers in Alzheimer's disease: An in-depth analysis
Revue Neurologique, 2025, Revue Neurologique, ⟨10.1016/j.neurol.2025.02.004⟩
Jean-Baptiste Davion, Ilda Coku, A. Wissocq, A. Genet, J. Poupart, Luc Defebvre, Vincent Huin
Pseudohypoaldosteronism type II and sensory neuropathy associated with a heterozygous pathogenic variant in KLHL3 gene, a case report.
HELIYON, 2024, HELIYON, 10, pp.e39891. ⟨10.1016/j.heliyon.2024.e39891⟩
Guillaume Baille, Nicolas Geoffre, Anna Wissocq, Eugenie Mutez, Nicolas Geoffre, Vincent Huin
Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.
BMC Neurology, 2024, BMC Neurology, 24, ⟨10.1186/s12883-024-03846-2⟩
Kathy Dujardin, Celine Tard, E. Diglé, V. Herlin, Eugenie Mutez, Jean Baptiste Davion, A. Wissocq, Violette Delforge, Gregory Kuchcinski, Vincent Huin
Reply to: "Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome
Movement Disorders, 2024, Movement Disorders, 39 (7), pp.1248-1249. ⟨10.1002/mds.29886⟩
Vincent Huin, David Blum, Violette Delforge, E. Cailliau, S. Djeziri, Kathy Dujardin, A. Genet, Romain Viard, S. Attarian, G. Bruneteau, J. Cassereau, S. Genestet, A. L. Kaminsky, M. H. Soriani, M. Lefilliatre, P. Couratier, S. Pittion-Vouyovitch, F. Esselin, E. de la Cruz, N. Guy, I. Kolev, P. Corcia, P. Cintas, C. Desnuelle, Luc Buee, V. Danel-Brunaud, David Devos, Anne-Sophie Rolland
Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition
Neurobiology of Disease, 2024, Neurobiology of Disease, 199, pp.106603. ⟨10.1016/j.nbd.2024.106603⟩
Violette Delforge, Celine Tard, Jean-Baptiste Davion, Kathy Dujardin, Anna Wissocq, Claire-Marie Dhaenens, Eugenie Mutez, Vincent Huin
RFC1: Motifs and phenotypes.
Revue Neurologique, 2024, Revue Neurologique, ⟨10.1016/j.neurol.2024.03.006⟩
Vincent Brock, Anna Wissocq, Nicolas Geoffre, Caroline Marks, Vincent Canel, Vincent Huin
Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination
European Journal of Ophthalmology, 2024, European Journal of Ophthalmology, 34 (4), pp.NP44 - NP46. ⟨10.1177/11206721241247418⟩
Kathy Dujardin, Celine Tard, E. Diglé, V. Herlin, Eugenie Mutez, Jean Baptiste Davion, A. Wissocq, Violette Delforge, Gregory Kuchcinski, Vincent Huin
Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)
Movement Disorders, 2024, Movement Disorders, 39 (5), pp.892-897. ⟨10.1002/mds.29750⟩
Eugénie Mutez, M. Swiderski, D. Devos, C. Moreau, G. Baille, A. Degardin, G. Ryckewaert, N. Carriere, A. Kreisler, C. Simonin, N. Rouaix, M. Tir, P. Krystkowiak, N. Ramdane, M. Génin, B. Sablonnière, L. Defebvre, V. Huin
Indication for molecular testing by multiplex ligation‐dependent probe amplification in parkinsonism
European Journal of Neurology, 2023, 30 (6), pp.1667-1675. ⟨10.1111/ene.15788⟩
E. Mutez, M. Swiderski, D. Devos, C. Moreau, G. Baille, A. Degardin, G. Ryckewaert, N. Carriere, A. Kreisler, C. Simonin, N. Rouaix, M. Tir, P. Krystkowiak, N. Ramdane, M. Génin, B. Sablonnière, L. Defebvre, V. Huin
Indication for molecular testing by multiplex ligation‐dependent probe amplification in parkinsonism
European Journal of Neurology, 2023, ⟨10.1111/ene.15788⟩
Sacha Weber, Giulia Coarelli, Anna Heinzmann, Marie-Lorraine Monin, Nicolas Richard, Marion Gerard, Alexandra Durr, Vincent Huin
Two RFC1 splicing variants in CANVAS
Brain - A Journal of Neurology , 2022, ⟨10.1093/brain/awac466⟩
Felix Marchand, Caroline Moreau, Gregory Kuchcinski, Vincent Huin, Luc Defebvre, David Devos
Conservative Iron Chelation for Neuroferritinopathy.
Movement Disorders, 2022, Movement Disorders, 37 (9), pp.1948-1952. ⟨10.1002/mds.29145⟩
Ilda Coku, Eugénie Mutez, Sabiha Eddarkaoui, Sébastien Carrier, Antoine Marchand, Claire Deldycke, Liesel Goveas, Guillaume Baille, Mélissa Tir, Romain Magnez, Xavier Thuru, Gaëlle Vermeersch, Wim Vandenberghe, Luc Buée, Luc Defebvre, Bernard Sablonnière, Marie-Christine Chartier-Harlin, Jean-Marc Taymans, Vincent Huin
Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.
Movement Disorders, 2022, ⟨10.1002/mds.29124⟩
Vincent Huin, Giulia Coarelli, Clément Guemy, Susana Boluda, Rabab Debs, Fanny Mochel, Tanya Stojkovic, David Grabli, Thierry Maisonobe, Bertrand Gaymard, Timothée Lenglet, Céline Tard, Jean-Baptiste Davion, Bernard Sablonnière, Marie-Lorraine Monin, Claire Ewenczyk, Karine Viala, Perrine Charles, Isabelle Le Ber, Mary Reilly, Henry Houlden, Andrea Cortese, Danielle Seilhean, Alexis Brice, Alexandra Durr
Motor neuron pathology in CANVAS due to RFC1 expansions
Brain - A Journal of Neurology , 2021, pp.awab449. ⟨10.1093/brain/awab449⟩
Kevin Carvalho, Elodie Martin, Aurélia Ces, Nadège Sarrazin, Pauline Lagouge-Roussey, Caroline Nous, Leyna Boucherit, Ihsen Youssef, Annick Prigent, Emilie Faivre, Sabiha Eddarkaoui, Thibaut Gauvrit, Didier Vieau, Susana Boluda, Vincent Huin, Bertrand Fontaine, Luc Buée, Benoît Delatour, Patrick Dutar, Florian Sennlaub, Xavier Guillonneau, David Blum, Cécile Delarasse
P2X7-deficiency improves plasticity and cognitive abilities in a mouse model of Tauopathy
Progress in Neurobiology, 2021, 206, pp.102139. ⟨10.1016/j.pneurobio.2021.102139⟩
David Blum, K. Gomez-Murcia, Carvalho K., M. Dumoulin, Faivre E., Montmasson C., Mériaux C., V. Huin, R. Caillierez, S. Eddarkaoui, S. Bégard, M. Wisztorski, I. Fournier, N. Deglon, A. Bemelmans, M. Hamdane, Y. Chern, L. Buee, A.-L. Boutillier, A. Halle, Sabine Lévi, L.. Lopes
Neuronal upregulation of adenosine a2a receptors exacerbates memory deficits in mouse models of alzheimer's disease
AD/PD virtual meeting, Sep 2021, virtual meeting, France
Ching-Pang Chang, Ya-Gin Chang, Pei-Yun Chuang, Thi Ngoc Anh Nguyen, Kuo-Chen Wu, Fang-Yi Chou, Sin-Jhong Cheng, Hui-Mei Chen, Lee-Way Jin, Kevin Carvalho, Vincent Huin, Luc Buée, Yung-Feng Liao, Chun-Jung Lin, David Blum, Yijuang Chern
Equilibrative nucleoside transporter 1 inhibition rescues energy dysfunction and pathology in a model of tauopathy
Acta Neuropathologica Communications, 2021, 9 (1), pp.112. ⟨10.1186/s40478-021-01213-7⟩
Vincent Huin, Mathieu Barbier, Alexandra Durr, Isabelle Le Ber
Reply: Two heterozygous Progranulin mutations in progressive supranuclear palsy
Brain - A Journal of Neurology , 2021, ⟨10.1093/brain/awaa456⟩
Vincent Huin, Mathieu Barbier, Alexandra Durr, Isabelle Le Ber
Reply: Early-onset phenotype of bi-allelic GRN mutations
Brain - A Journal of Neurology , 2020, ⟨10.1093/brain/awaa415⟩
Fábio Carneiro, Dario Saracino, Vincent Huin, Fabienne Clot, Cécile Delorme, Aurélie Méneret, Stéphane Thobois, Florence Cormier, Jean Christophe Corvol, Timothée Lenglet, Marie Vidailhet, Marie-Odile Habert, Audrey Gabelle, Émilie Beaufils, Karl Mondon, Mélissa Tir, Daniela Andriuta, Alexis Brice, Vincent Deramecourt, Isabelle Le Ber
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations Authors
Parkinsonism & Related Disorders, 2020, 80, pp.73-81. ⟨10.1016/j.parkreldis.2020.09.019⟩
Vincent Huin, Mathieu Barbier, Armand Bottani, Johannes Alexander Lobrinus, Fabienne Clot, Foudil Lamari, Laureen Chat, Benoît Rucheton, Frédérique Fluchère, Stéphane Auvin, Peter Myers, Antoinette Gelot, Agnès Camuzat, Catherine Caillaud, Ludmila Jornéa, Sylvie Forlani, Dario Saracino, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Isabelle Le Ber
Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms
Brain - A Journal of Neurology , 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩
Mégane Homa, Anne Loyens, Sabiha Eddarkaoui, Emilie Faivre, Vincent Deramecourt, Claude-Alain Maurage, Luc Buée, Vincent Huin, Bernard Sablonnière
The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals
The Cerebellum, In press, Ahead of print. ⟨10.1007/s12311-020-01112-y⟩
Kevin Carvalho, Emilie Faivre, Marie Pietrowski, Xavier Marques, Victoria Gomez-Murcia, Aude Deleau, Vincent Huin, Jan Hansen, Stanislav Kozlov, Clément Danis, Mariana Temido-Ferreira, Joana Coelho, Céline Mériaux, Sabiha Eddarkaoui, Stéphanie Le Gras, Mélanie Dumoulin, Lucrezia Cellai, Isabelle Landrieu, Yijuang Chern, Malika Hamdane, Luc Buee, Anne-Laurence Boutillier, Sabine Lévi, Annett Halle, Luisa Lopes, David Blum
Exacerbation of C1q dysregulation, synaptic loss and memory deficits in tau pathology linked to neuronal adenosine A2A receptor
Brain - A Journal of Neurology , 2019, 142 (11), pp.3636-3654. ⟨10.1093/brain/awz288⟩
Vincent Huin, Claire-Marie Dhaenens, Mégane Homa, Kévin Carvalho, Luc Buée, Bernard Sablonnière
Neurogenetics of the Human Adenosine Receptor Genes: Genetic Structures and Involvement in Brain Diseases
Journal of Caffeine and Adenosine Research, 2019, 9 (3), pp.73-88. ⟨10.1089/caff.2019.0011⟩
Vincent Huin, Isabelle Strubi-Vuillaume, Kathy Dujardin, Marine Brion, Marie Delliaux, Delphine Dellacherie, Jean-Christophe Cuvellier, Jean-Marie Cuisset, Audrey Riquet, Caroline Moreau, Luc Defebvre, Bernard Sablonniere, David Devos
Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy
Parkinsonism & Related Disorders, 2017, Parkinsonism & related disorders, 45, pp.85-89. ⟨10.1016/j.parkreldis.2017.09.014⟩
Vincent Huin, Vincent Deramecourt, Dominique Caparros-Lefebvre, Claude Alain Maurage, Charles Duyckaerts, Eniko Kovari, Valérie Buée-Scherrer, Julien Labreuche, Florence Pasquier, Hélène Behal, Luc Buée, Claire-Marie Dhaenens, Bernard Sablonnière
Alternative promoter usage generates novel shorter MAPT mRNA transcripts in Alzheimer’s disease and progressive supranuclear palsy brains
Scientific Reports, 2017, 7 (1), pp.12589. ⟨10.1038/s41598-017-12955-7⟩
Epigénomique du gène MAPT dans les tauopathies
Médecine humaine et pathologie. Université du Droit et de la Santé - Lille II, 2016. Français. ⟨NNT : 2016LIL2S030⟩
Vincent Huin, Vincent Deramecourt, Dominique Caparros-Lefebvre, Claude-Alain Maurage, Charles Duyckaerts, Eniko Kovari, Florence Pasquier, Valérie Buée-Scherrer, Julien Labreuche, Hélène Behal, Luc Buée, Claire-Marie Dhaenens, Bernard Sablonnière
The MAPT gene is differentially methylated in the progressive supranuclear palsy brain
Movement Disorders, 2016, 31 (12), pp.1883-1890. ⟨10.1002/mds.26820⟩
Dominique Caparros-Lefebvre, Lawrence I Golbe, Vincent Deramecourt, Claude-Alain Maurage, Vincent Huin, Valérie Buée-Scherrer, Hélène Obriot, Bernard Sablonnière, Francois Caparros, Luc Buée, Andrew J. Lees
A geographical cluster of progressive supranuclear palsy in northern France
Neurology, 2015, 85 (15), pp.1293-1300. ⟨10.1212/WNL.0000000000001997⟩
Jérôme Delplanque, David Devos, Vincent Huin, Alexandre Genet, Olivier Sand, Caroline Moreau, Cyril Goizet, Perrine Charles, Mathieu Anheim, Marie Lorraine Monin, Luc Buée, Alain Destée, Guillaume Grolez, Christine Delmaire, Kathy Dujardin, Delphine Dellacherie, Alexis Brice, Giovanni Stevanin, Isabelle Strubi-Vuillaume, Alexandra Durr, Bernard Sablonnière
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment
Brain - A Journal of Neurology , 2014, 137 (10), pp.2657-2663. ⟨10.1093/brain/awu202⟩
Vincent Huin, Francis Vasseur, Susanna Schraen-Maschke, Claire-Marie Dhaenens, Patrick Devos, Kathy Dupont, Nicolas Sergeant, Luc Buée, Arnaud Lacour, Hélène Hofmann-Radvanyi, Bernard Sablonnière
MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1
Journal of Neurology, 2013, 260 (4), pp.998-1003. ⟨10.1007/s00415-012-6740-y⟩
Déterminisme génétique du cancer : étude des gènes de la voie du PDGFB dans le dermatofibrosarcome de Darier et Ferrand
Médecine humaine et pathologie. 2012
Recherche
Type de document
Année