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Vincent Huin

Maître de conférences des universités-praticien hospitalier CNU : SECTION 4401 - BIOCHIMIE ET BIOLOGIE MOLECULAIRE Laboratoire / équipe

Publications

hal-05096463

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⟩

hal-05118087

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⟩

hal-05096415

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⟩

hal-05025065

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⟩

hal-04977471

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⟩

hal-04976417

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⟩

hal-04688788

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⟩

hal-04586690

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⟩

hal-04990708

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⟩

hal-04688773

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⟩

hal-04330019

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⟩

hal-04032320

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⟩

hal-03920011

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⟩

hal-04769123

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⟩

hal-03974273

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

inserm-03366697

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⟩

hal-03113276

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⟩

hal-03113239

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⟩

inserm-02463227

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⟩

inserm-02460598

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⟩

hal-02467104

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⟩

inserm-02460428

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⟩

tel-01682414

Vincent Huin

Epigénomique du gène MAPT dans les tauopathies

Médecine humaine et pathologie. Université du Droit et de la Santé - Lille II, 2016. Français. ⟨NNT : 2016LIL2S030⟩

hal-03015965

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⟩

inserm-02460488

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⟩

hal-03555357

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⟩

dumas-00745804

Vincent Huin

Déterminisme génétique du cancer : étude des gènes de la voie du PDGFB dans le dermatofibrosarcome de Darier et Ferrand

Médecine humaine et pathologie. 2012

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