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Vincent HUIN

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Présentation

**HUIN Vincent, M.D., Ph.D.** Associate professor in Biochemistry and Molecular Biology, University of Lille, France Univ. Lille, Inserm, CHU Lille, Lille Neuroscience &amp; Cognition, UMR-S1172, Team "Alzheimer &amp; Tauopathies" <vincent.huin@inserm.fr> / vincent.huin@chru-lille.fr Tel: +33 359 899 605 / Fax: +33 320 538 562 French citizen **EDUCATION** INSTITUTION AND LOCATION DEGREE YEAR FIELD OF STUDY University of Lille, Faculty of Medicine, **Bachelor of Medicine** 2007 University of Lille, **B.Sc.** (Master 1), Research in Biology-Health 2005 University of Rouen, **B.Sc.** (Master 1), Medical/Pharmaceutical Sciences &amp; Biology-Health 2009 University of Lille, **M.Sc.** (Master 2), Research in Biology-Health 2011 University of Rouen and University Hospital of Rouen, **M.D.** Medical biology &amp; genetics 2012 University of Paris Descartes, Paris (DIU), Diploma of Inborn errors of metabolism 2013 National examination for the position of **hospital doctor**,Medical biology 2016 University of Lille, **Ph.D in Neurosciences** 2016 University of Pierre et Marie Curie, Paris (DIU), Diploma of medical pedagogy 2019 University of Lille, Habilitation à diriger des recherches 2023 **EMPLOYMENT** University Hospital of Lille, **Professional practice and internship** 2003-2007 University Hospital of Rouen, Postgraduate experience as **Medical Intern** 2007-2012 University Hospital of Lille, **Specialty Registrar** 2012-2017 Institut du Cerveau et de la moelle épinière (ICM), Paris, **PostPh.D.** 2017-2018 University of Lille and University Hospital of Lille, **Associate professor** 2018-present **OTHER ACADEMIC POSITIONS** Speech Therapy School of Lille, **Head teacher in Biochemistry and Molecular Biology** 2013-2016 **HONORS and MEMBERSHIPS** • **Societies:** Society for Neuroscience France; Association Nationale des Praticiens de Génétique Moléculaire (ANPGM); Société Française de Biochimie et Biologie Moléculaire; Collège national des Biochimistes et Biologistes Moléculaires Médicaux (CBBMM) **• Networks:** Member of the clinical and genetics analysis of Spastic paraplegia and Ataxia network (European Spatax network); "BRAIN-TEAM": Filière de Santé Maladies Rares • **Conference as invited speaker:** National scientific symposium of the charity « connaître les syndromes cérébelleux », France 2016 • Reviewer for the journal “Orphanet Journal of Rare Diseases”, "Scientific Reports" and "Neurology: Genetics"
**HUIN Vincent, M.D., Ph.D.** Associate professor in Biochemistry and Molecular Biology, University of Lille, France Univ. Lille, Inserm, CHU Lille, Lille Neuroscience &amp; Cognition, UMR-S1172, Team "Alzheimer &amp; Tauopathies" <vincent.huin@inserm.fr> / vincent.huin@chru-lille.fr Tel: +33 359 899 605 / Fax: +33 320 538 562 French citizen **EDUCATION** INSTITUTION AND LOCATION DEGREE YEAR FIELD OF STUDY University of Lille, Faculty of Medicine, **Bachelor of Medicine** 2007 University of Lille, **B.Sc.** (Master 1), Research in Biology-Health 2005 University of Rouen, **B.Sc.** (Master 1), Medical/Pharmaceutical Sciences &amp; Biology-Health 2009 University of Lille, **M.Sc.** (Master 2), Research in Biology-Health 2011 University of Rouen and University Hospital of Rouen, **M.D.** Medical biology &amp; genetics 2012 University of Paris Descartes, Paris (DIU), Diploma of Inborn errors of metabolism 2013 National examination for the position of **hospital doctor**,Medical biology 2016 University of Lille, **Ph.D in Neurosciences** 2016 University of Pierre et Marie Curie, Paris (DIU), Diploma of medical pedagogy 2019 University of Lille, Habilitation à diriger des recherches 2023 **EMPLOYMENT** University Hospital of Lille, **Professional practice and internship** 2003-2007 University Hospital of Rouen, Postgraduate experience as **Medical Intern** 2007-2012 University Hospital of Lille, **Specialty Registrar** 2012-2017 Institut du Cerveau et de la moelle épinière (ICM), Paris, **PostPh.D.** 2017-2018 University of Lille and University Hospital of Lille, **Associate professor** 2018-present **OTHER ACADEMIC POSITIONS** Speech Therapy School of Lille, **Head teacher in Biochemistry and Molecular Biology** 2013-2016 **HONORS and MEMBERSHIPS** • **Societies:** Society for Neuroscience France; Association Nationale des Praticiens de Génétique Moléculaire (ANPGM); Société Française de Biochimie et Biologie Moléculaire; Collège national des Biochimistes et Biologistes Moléculaires Médicaux (CBBMM) **• Networks:** Member of the clinical and genetics analysis of Spastic paraplegia and Ataxia network (European Spatax network); "BRAIN-TEAM": Filière de Santé Maladies Rares • **Conference as invited speaker:** National scientific symposium of the charity « connaître les syndromes cérébelleux », France 2016 • Reviewer for the journal “Orphanet Journal of Rare Diseases”, "Scientific Reports" and "Neurology: Genetics"

Publications

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Indication for molecular testing by multiplex ligation‐dependent probe amplification in parkinsonism

Eugénie Mutez , M. Swiderski , D. Devos , C. Moreau , G. Baille
European Journal of Neurology, 2023, 30 (6), pp.1667-1675. ⟨10.1111/ene.15788⟩
Article dans une revue hal-04330019v1

Indication for molecular testing by multiplex ligation‐dependent probe amplification in parkinsonism

E. Mutez , M. Swiderski , D. Devos , C. Moreau , G. Baille
European Journal of Neurology, 2023, ⟨10.1111/ene.15788⟩
Article dans une revue hal-04032320v1
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Two RFC1 splicing variants in CANVAS

Sacha Weber , Giulia Coarelli , Anna Heinzmann , Marie-Lorraine Monin , Nicolas Richard
Brain - A Journal of Neurology , 2022, ⟨10.1093/brain/awac466⟩
Article dans une revue hal-03920011v1
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Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.

Ilda Coku , Eugénie Mutez , Sabiha Eddarkaoui , Sébastien Carrier , Antoine Marchand
Movement Disorders, 2022, ⟨10.1002/mds.29124⟩
Article dans une revue hal-03703786v1
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P2X7-deficiency improves plasticity and cognitive abilities in a mouse model of Tauopathy

Kevin Carvalho , Elodie Martin , Aurélia Ces , Nadège Sarrazin , Pauline Lagouge-Roussey
Progress in Neurobiology, 2021, 206, pp.102139. ⟨10.1016/j.pneurobio.2021.102139⟩
Article dans une revue inserm-03366671v1
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Equilibrative nucleoside transporter 1 inhibition rescues energy dysfunction and pathology in a model of tauopathy

Ching-Pang Chang , Ya-Gin Chang , Pei-Yun Chuang , Thi Ngoc Anh Nguyen , Kuo-Chen Wu
Acta Neuropathologica Communications, 2021, 9 (1), pp.112. ⟨10.1186/s40478-021-01213-7⟩
Article dans une revue inserm-03366697v1
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Reply: Two heterozygous Progranulin mutations in progressive supranuclear palsy

Vincent Huin , Mathieu Barbier , Alexandra Durr , Isabelle Le Ber
Brain - A Journal of Neurology , 2021, ⟨10.1093/brain/awaa456⟩
Article dans une revue hal-03113276v1
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Motor neuron pathology in CANVAS due to RFC1 expansions

Vincent Huin , Giulia Coarelli , Clément Guemy , Susana Boluda , Rabab Debs
Brain - A Journal of Neurology , 2021, pp.awab449. ⟨10.1093/brain/awab449⟩
Article dans une revue hal-03540380v1
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Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations Authors

Fábio Carneiro , Dario Saracino , Vincent Huin , Fabienne Clot , Cécile Delorme
Parkinsonism & Related Disorders, 2020, 80, pp.73-81. ⟨10.1016/j.parkreldis.2020.09.019⟩
Article dans une revue hal-03146705v1
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Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms

Vincent Huin , Mathieu Barbier , Armand Bottani , Johannes Alexander Lobrinus , Fabienne Clot
Brain - A Journal of Neurology , 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩
Article dans une revue inserm-03014481v2
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The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals

Mégane Homa , Anne Loyens , Sabiha Eddarkaoui , Emilie Faivre , Vincent Deramecourt
The Cerebellum, In press, Ahead of print. ⟨10.1007/s12311-020-01112-y⟩
Article dans une revue inserm-02463227v2
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Reply: Early-onset phenotype of bi-allelic GRN mutations

Vincent Huin , Mathieu Barbier , Alexandra Durr , Isabelle Le Ber
Brain - A Journal of Neurology , 2020, ⟨10.1093/brain/awaa415⟩
Article dans une revue hal-03113239v1
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Exacerbation of C1q dysregulation, synaptic loss and memory deficits in tau pathology linked to neuronal adenosine A2A receptor

Kevin Carvalho , Emilie Faivre , Marie Pietrowski , Xavier Marques , Victoria Gomez-Murcia
Brain - A Journal of Neurology , 2019, 142 (11), pp.3636-3654. ⟨10.1093/brain/awz288⟩
Article dans une revue inserm-02350065v1
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Neurogenetics of the Human Adenosine Receptor Genes: Genetic Structures and Involvement in Brain Diseases

Vincent Huin , Claire-Marie Dhaenens , Mégane Homa , Kévin Carvalho , Luc Buée
Journal of Caffeine and Adenosine Research, 2019, 9 (3), pp.73-88. ⟨10.1089/caff.2019.0011⟩
Article dans une revue inserm-02460598v1
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Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy

Vincent Huin , Isabelle Strubi-Vuillaume , Kathy Dujardin , Marine Brion , Marie Delliaux
Parkinsonism & Related Disorders, 2017, Parkinsonism & related disorders, 45, pp.85-89. ⟨10.1016/j.parkreldis.2017.09.014⟩
Article dans une revue hal-02467104v2
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Alternative promoter usage generates novel shorter MAPT mRNA transcripts in Alzheimer’s disease and progressive supranuclear palsy brains

Vincent Huin , Vincent Deramecourt , Dominique Caparros-Lefebvre , Claude Alain Maurage , Charles Duyckaerts
Scientific Reports, 2017, 7 (1), pp.12589. ⟨10.1038/s41598-017-12955-7⟩
Article dans une revue inserm-02460428v1
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The MAPT gene is differentially methylated in the progressive supranuclear palsy brain

Vincent Huin , Vincent Deramecourt , Dominique Caparros-Lefebvre , Claude-Alain Maurage , Charles Duyckaerts
Movement Disorders, 2016, 31 (12), pp.1883-1890. ⟨10.1002/mds.26820⟩
Article dans une revue hal-03015965v2

A geographical cluster of progressive supranuclear palsy in northern France

Dominique Caparros-Lefebvre , Lawrence I Golbe , Vincent Deramecourt , Claude-Alain Maurage , Vincent Huin
Neurology, 2015, 85 (15), pp.1293-1300. ⟨10.1212/WNL.0000000000001997⟩
Article dans une revue inserm-02460488v1
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TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

Jérôme Delplanque , David Devos , Vincent Huin , Alexandre Genet , Olivier Sand
Brain - A Journal of Neurology , 2014, 137 (10), pp.2657-2663. ⟨10.1093/brain/awu202⟩
Article dans une revue inserm-03017555v1
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MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1

Vincent Huin , Francis Vasseur , Susanna Schraen-Maschke , Claire-Marie Dhaenens , Patrick Devos
Journal of Neurology, 2013, 260 (4), pp.998-1003. ⟨10.1007/s00415-012-6740-y⟩
Article dans une revue hal-03555357v1
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Epigénomique du gène MAPT dans les tauopathies

Vincent Huin
Médecine humaine et pathologie. Université du Droit et de la Santé - Lille II, 2016. Français. ⟨NNT : 2016LIL2S030⟩
Thèse tel-01682414v1