| Translation of expanded CGG repeats into FMRpolyG is pathogenic and may contribute to fragile X tremor ataxia syndrome C Sellier, RAM Buijsen, F He, S Natla, L Jung, P Tropel, A Gaucherot, ... Neuron 93 (2), 331-347, 2017 | 215 | 2017 |
| TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment J Delplanque, D Devos, V Huin, A Genet, O Sand, C Moreau, C Goizet, ... Brain 137 (10), 2657-2663, 2014 | 79 | 2014 |
| Exacerbation of C1q dysregulation, synaptic loss and memory deficits in tau pathology linked to neuronal adenosine A2A receptor K Carvalho, E Faivre, MJ Pietrowski, X Marques, V Gomez-Murcia, ... Brain 142 (11), 3636-3654, 2019 | 78 | 2019 |
| Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms V Huin, M Barbier, A Bottani, JA Lobrinus, F Clot, F Lamari, L Chat, ... Brain 143 (1), 303-319, 2020 | 64 | 2020 |
| A geographical cluster of progressive supranuclear palsy in northern France D Caparros-Lefebvre, LI Golbe, V Deramecourt, CA Maurage, V Huin, ... Neurology 85 (15), 1293-1300, 2015 | 47 | 2015 |
| Motor neuron pathology in CANVAS due to RFC1 expansions V Huin, G Coarelli, C Guemy, S Boluda, R Debs, F Mochel, T Stojkovic, ... Brain 145 (6), 2121-2132, 2022 | 45 | 2022 |
| Alternative promoter usage generates novel shorter MAPT mRNA transcripts in Alzheimer’s disease and progressive supranuclear palsy brains V Huin, L Buée, H Behal, J Labreuche, B Sablonnière, CM Dhaenens Scientific reports 7 (1), 12589, 2017 | 36 | 2017 |
| Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia JL Méreaux, G Banneau, M Papin, G Coarelli, R Valter, L Raymond, B Kol, ... Brain 145 (3), 1029-1037, 2022 | 34 | 2022 |
| The MAPT gene is differentially methylated in the progressive supranuclear palsy brain V Huin, V Deramecourt, D Caparros‐Lefebvre, CA Maurage, ... Movement Disorders 31 (12), 1883-1890, 2016 | 31 | 2016 |
| Use of dried blood spots and inductively coupled plasma mass spectrometry for multi-element determination in blood V Vacchina, V Huin, S Hulo, D Cuny, F Broly, G Renom, JM Perini Journal of Trace Elements in Medicine and Biology 28 (3), 255-259, 2014 | 31 | 2014 |
| P2X7-deficiency improves plasticity and cognitive abilities in a mouse model of Tauopathy K Carvalho, E Martin, A Ces, N Sarrazin, P Lagouge-Roussey, C Nous, ... Progress in Neurobiology 206, 102139, 2021 | 29 | 2021 |
| Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy V Huin, I Strubi-Vuillaume, K Dujardin, M Brion, M Delliaux, D Dellacherie, ... Parkinsonism & related disorders 45, 85-89, 2017 | 28 | 2017 |
| Neuronal ApoE4 stimulates C/EBPβ activation, promoting Alzheimer’s disease pathology in a mouse model ZH Wang, Y Xia, Z Wu, SS Kang, J Zhang, P Liu, X Liu, W Song, V Huin, ... Progress in Neurobiology 209, 102212, 2022 | 21 | 2022 |
| MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1 V Huin, F Vasseur, S Schraen-Maschke, CM Dhaenens, P Devos, ... Journal of neurology 260, 998-1003, 2013 | 20 | 2013 |
| Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations F Carneiro, D Saracino, V Huin, F Clot, C Delorme, A Méneret, S Thobois, ... Parkinsonism & Related Disorders 80, 73-81, 2020 | 15 | 2020 |
| Neurogenetics of the human adenosine receptor genes: Genetic structures and involvement in brain diseases V Huin, CM Dhaenens, M Homa, K Carvalho, L Buée, B Sablonnière Journal of Caffeine and Adenosine Research 9 (3), 73-88, 2019 | 14 | 2019 |
| Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations JL Méreaux, C Firanescu, G Coarelli, M Kvarnung, R Rodrigues, ... neurogenetics 22, 71-79, 2021 | 12 | 2021 |
| Equilibrative nucleoside transporter 1 inhibition rescues energy dysfunction and pathology in a model of tauopathy CP Chang, YG Chang, PY Chuang, TNA Nguyen, KC Wu, FY Chou, ... Acta neuropathologica communications 9 (1), 112, 2021 | 9 | 2021 |
| Two RFC1 splicing variants in CANVAS S Weber, G Coarelli, A Heinzmann, ML Monin, N Richard, M Gerard, ... Brain 146 (3), e14-e16, 2023 | 7 | 2023 |
| Conservative iron chelation for neuroferritinopathy F Marchand, C Moreau, G Kuchcinski, V Huin, L Defebvre, D Devos Movement Disorders 37 (9), 1948-1952, 2022 | 5 | 2022 |
Durr AlexandraICMVerified email at upmc.fr
