Vincent Huin
Maître de conférences des universités-praticien hospitalier
CNU : SECTION 4401 - BIOCHIMIE ET BIOLOGIE MOLECULAIRE
Laboratoire / équipe
Publications
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"title_s":["Pseudohypoaldosteronism type II and sensory neuropathy associated with a heterozygous pathogenic variant in KLHL3 gene, a case report."],
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"title_s":["Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report."],
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"citationRef_s":"<i>Movement Disorders</i>, 2024, Movement Disorders, 39 (7), pp.1248-1249. <a target=\"_blank\" href=\"https://dx.doi.org/10.1002/mds.29886\">⟨10.1002/mds.29886⟩</a>",
"citationFull_s":"Kathy Dujardin, Celine Tard, E. Diglé, V. Herlin, Eugenie Mutez, et al.. Reply to: \"Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome\". <i>Movement Disorders</i>, 2024, Movement Disorders, 39 (7), pp.1248-1249. <a target=\"_blank\" href=\"https://dx.doi.org/10.1002/mds.29886\">⟨10.1002/mds.29886⟩</a>. <a target=\"_blank\" href=\"https://hal.univ-lille.fr/hal-04688788v1\">⟨hal-04688788⟩</a>",
"title_s":["Reply to: \"Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome"],
"authFullName_s":["Kathy Dujardin","Celine Tard","E. Diglé","V. Herlin","Eugenie Mutez","Jean Baptiste Davion","A. Wissocq","Violette Delforge","Gregory Kuchcinski","Vincent Huin"],
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"citationFull_s":"Vincent Huin, David Blum, Violette Delforge, E. Cailliau, S. Djeziri, et al.. Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition. <i>Neurobiology of Disease</i>, 2024, Neurobiology of Disease, 199, pp.106603. <a target=\"_blank\" href=\"https://dx.doi.org/10.1016/j.nbd.2024.106603\">⟨10.1016/j.nbd.2024.106603⟩</a>. <a target=\"_blank\" href=\"https://hal.univ-lille.fr/hal-04684979v1\">⟨hal-04684979⟩</a>",
"title_s":["Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition"],
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"citationFull_s":"Vincent Brock, Anna Wissocq, Nicolas Geoffre, Caroline Marks, Vincent Canel, et al.. Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination. <i>European Journal of Ophthalmology</i>, 2024, European Journal of Ophthalmology, 34 (4), pp.NP44 - NP46. <a target=\"_blank\" href=\"https://dx.doi.org/10.1177/11206721241247418\">⟨10.1177/11206721241247418⟩</a>. <a target=\"_blank\" href=\"https://hal.univ-lille.fr/hal-04990708v1\">⟨hal-04990708⟩</a>",
"title_s":["Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination"],
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"citationFull_s":"Kathy Dujardin, Celine Tard, E. Diglé, V. Herlin, Eugenie Mutez, et al.. Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS). <i>Movement Disorders</i>, 2024, Movement Disorders, 39 (5), pp.892-897. <a target=\"_blank\" href=\"https://dx.doi.org/10.1002/mds.29750\">⟨10.1002/mds.29750⟩</a>. <a target=\"_blank\" href=\"https://hal.univ-lille.fr/hal-04688773v1\">⟨hal-04688773⟩</a>",
"title_s":["Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)"],
"authFullName_s":["Kathy Dujardin","Celine Tard","E. Diglé","V. Herlin","Eugenie Mutez","Jean Baptiste Davion","A. Wissocq","Violette Delforge","Gregory Kuchcinski","Vincent Huin"],
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"citationFull_s":"Eugénie Mutez, M. Swiderski, D. Devos, C. Moreau, G. Baille, et al.. Indication for molecular testing by multiplex ligation‐dependent probe amplification in parkinsonism. <i>European Journal of Neurology</i>, 2023, 30 (6), pp.1667-1675. <a target=\"_blank\" href=\"https://dx.doi.org/10.1111/ene.15788\">⟨10.1111/ene.15788⟩</a>. <a target=\"_blank\" href=\"https://hal.science/hal-04330019v1\">⟨hal-04330019⟩</a>",
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"citationFull_s":"E. Mutez, M. Swiderski, D. Devos, C. Moreau, G. Baille, et al.. Indication for molecular testing by multiplex ligation‐dependent probe amplification in parkinsonism. <i>European Journal of Neurology</i>, 2023, <a target=\"_blank\" href=\"https://dx.doi.org/10.1111/ene.15788\">⟨10.1111/ene.15788⟩</a>. <a target=\"_blank\" href=\"https://u-picardie.hal.science/hal-04032320v1\">⟨hal-04032320⟩</a>",
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"citationFull_s":"Sacha Weber, Giulia Coarelli, Anna Heinzmann, Marie-Lorraine Monin, Nicolas Richard, et al.. Two RFC1 splicing variants in CANVAS. <i>Brain - A Journal of Neurology </i>, 2022, <a target=\"_blank\" href=\"https://dx.doi.org/10.1093/brain/awac466\">⟨10.1093/brain/awac466⟩</a>. <a target=\"_blank\" href=\"https://normandie-univ.hal.science/hal-03920011v1\">⟨hal-03920011⟩</a>",
"title_s":["Two RFC1 splicing variants in CANVAS"],
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"citationFull_s":"Felix Marchand, Caroline Moreau, Gregory Kuchcinski, Vincent Huin, Luc Defebvre, et al.. Conservative Iron Chelation for Neuroferritinopathy.. <i>Movement Disorders</i>, 2022, Movement Disorders, 37 (9), pp.1948-1952. <a target=\"_blank\" href=\"https://dx.doi.org/10.1002/mds.29145\">⟨10.1002/mds.29145⟩</a>. <a target=\"_blank\" href=\"https://hal.univ-lille.fr/hal-04769123v1\">⟨hal-04769123⟩</a>",
"title_s":["Conservative Iron Chelation for Neuroferritinopathy."],
"authFullName_s":["Felix Marchand","Caroline Moreau","Gregory Kuchcinski","Vincent Huin","Luc Defebvre","David Devos"],
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"citationRef_s":"<i>Movement Disorders</i>, 2022, <a target=\"_blank\" href=\"https://dx.doi.org/10.1002/mds.29124\">⟨10.1002/mds.29124⟩</a>",
"citationFull_s":"Ilda Coku, Eugénie Mutez, Sabiha Eddarkaoui, Sébastien Carrier, Antoine Marchand, et al.. Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.. <i>Movement Disorders</i>, 2022, <a target=\"_blank\" href=\"https://dx.doi.org/10.1002/mds.29124\">⟨10.1002/mds.29124⟩</a>. <a target=\"_blank\" href=\"https://u-picardie.hal.science/hal-03703786v1\">⟨hal-03703786⟩</a>",
"title_s":["Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease."],
"authFullName_s":["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"],
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"citationFull_s":"Vincent Huin, Giulia Coarelli, Clément Guemy, Susana Boluda, Rabab Debs, et al.. Motor neuron pathology in CANVAS due to RFC1 expansions. <i>Brain - A Journal of Neurology </i>, 2021, pp.awab449. <a target=\"_blank\" href=\"https://dx.doi.org/10.1093/brain/awab449\">⟨10.1093/brain/awab449⟩</a>. <a target=\"_blank\" href=\"https://hal.sorbonne-universite.fr/hal-03540380v1\">⟨hal-03540380⟩</a>",
"title_s":["Motor neuron pathology in CANVAS due to RFC1 expansions","Pathologie du motoneurone dans le CANVAS causé par les expansions de RFC1"],
"authFullName_s":["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"],
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"citationFull_s":"Kevin Carvalho, Elodie Martin, Aurélia Ces, Nadège Sarrazin, Pauline Lagouge-Roussey, et al.. P2X7-deficiency improves plasticity and cognitive abilities in a mouse model of Tauopathy. <i>Progress in Neurobiology</i>, 2021, 206, pp.102139. <a target=\"_blank\" href=\"https://dx.doi.org/10.1016/j.pneurobio.2021.102139\">⟨10.1016/j.pneurobio.2021.102139⟩</a>. <a target=\"_blank\" href=\"https://inserm.hal.science/inserm-03366671v1\">⟨inserm-03366671⟩</a>",
"title_s":["P2X7-deficiency improves plasticity and cognitive abilities in a mouse model of Tauopathy"],
"authFullName_s":["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"],
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"citationFull_s":"David Blum, K. Gomez-Murcia, Carvalho K., M. Dumoulin, Faivre E., et al.. Neuronal upregulation of adenosine a2a receptors exacerbates memory deficits in mouse models of alzheimer's disease. <i>AD/PD virtual meeting</i>, Sep 2021, virtual meeting, France. <a target=\"_blank\" href=\"https://hal.sorbonne-universite.fr/hal-03974273v1\">⟨hal-03974273⟩</a>",
"title_s":["Neuronal upregulation of adenosine a2a receptors exacerbates memory deficits in mouse models of alzheimer's disease"],
"authFullName_s":["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"],
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"citationRef_s":"<i>Acta Neuropathologica Communications</i>, 2021, 9 (1), pp.112. <a target=\"_blank\" href=\"https://dx.doi.org/10.1186/s40478-021-01213-7\">⟨10.1186/s40478-021-01213-7⟩</a>",
"citationFull_s":"Ching-Pang Chang, Ya-Gin Chang, Pei-Yun Chuang, Thi Ngoc Anh Nguyen, Kuo-Chen Wu, et al.. Equilibrative nucleoside transporter 1 inhibition rescues energy dysfunction and pathology in a model of tauopathy. <i>Acta Neuropathologica Communications</i>, 2021, 9 (1), pp.112. <a target=\"_blank\" href=\"https://dx.doi.org/10.1186/s40478-021-01213-7\">⟨10.1186/s40478-021-01213-7⟩</a>. <a target=\"_blank\" href=\"https://inserm.hal.science/inserm-03366697v1\">⟨inserm-03366697⟩</a>",
"title_s":["Equilibrative nucleoside transporter 1 inhibition rescues energy dysfunction and pathology in a model of tauopathy"],
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"citationRef_s":"<i>Brain - A Journal of Neurology </i>, 2021, <a target=\"_blank\" href=\"https://dx.doi.org/10.1093/brain/awaa456\">⟨10.1093/brain/awaa456⟩</a>",
"citationFull_s":"Vincent Huin, Mathieu Barbier, Alexandra Durr, Isabelle Le Ber. Reply: Two heterozygous Progranulin mutations in progressive supranuclear palsy. <i>Brain - A Journal of Neurology </i>, 2021, <a target=\"_blank\" href=\"https://dx.doi.org/10.1093/brain/awaa456\">⟨10.1093/brain/awaa456⟩</a>. <a target=\"_blank\" href=\"https://hal.sorbonne-universite.fr/hal-03113276v1\">⟨hal-03113276⟩</a>",
"title_s":["Reply: Two heterozygous Progranulin mutations in progressive supranuclear palsy"],
"authFullName_s":["Vincent Huin","Mathieu Barbier","Alexandra Durr","Isabelle Le Ber"],
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"citationRef_s":"<i>Brain - A Journal of Neurology </i>, 2020, <a target=\"_blank\" href=\"https://dx.doi.org/10.1093/brain/awaa415\">⟨10.1093/brain/awaa415⟩</a>",
"citationFull_s":"Vincent Huin, Mathieu Barbier, Alexandra Durr, Isabelle Le Ber. Reply: Early-onset phenotype of bi-allelic GRN mutations. <i>Brain - A Journal of Neurology </i>, 2020, <a target=\"_blank\" href=\"https://dx.doi.org/10.1093/brain/awaa415\">⟨10.1093/brain/awaa415⟩</a>. <a target=\"_blank\" href=\"https://hal.sorbonne-universite.fr/hal-03113239v1\">⟨hal-03113239⟩</a>",
"title_s":["Reply: Early-onset phenotype of bi-allelic GRN mutations"],
"authFullName_s":["Vincent Huin","Mathieu Barbier","Alexandra Durr","Isabelle Le Ber"],
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"citationRef_s":"<i>Parkinsonism & Related Disorders</i>, 2020, 80, pp.73-81. <a target=\"_blank\" href=\"https://dx.doi.org/10.1016/j.parkreldis.2020.09.019\">⟨10.1016/j.parkreldis.2020.09.019⟩</a>",
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"title_s":["Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations Authors"],
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"title_s":["The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals","La protéine TMEM240, mutée dans la SCA21, est exprimée dans les cellules de Purkinje et ses terminaisons synaptiques"],
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"title_s":["The MAPT gene is differentially methylated in the progressive supranuclear palsy brain","Le gène MAPT est méthylé différentiellement dans le cerveau dans la paralysie supranucléaire progressive"],
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