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A

Arnaud Jacquier

university of lyon1
H指数:15
被引数:1,049

个人简介

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教育背景

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工作经历

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荣誉奖项

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Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2023-06-193
OAAI
Theuriet, Julian; Fernandez-Eulate, Gorka; Latour, Philippe; Stojkovic, Tanya; Masingue, Marion; Vidoni, Leo; Bernard, Emilien; Jacquier, Arnaud; Schaeffer, Laurent; Salort-Campana, Emmanuelle; Chanson, Jean-Baptiste; Pakleza, Aleksandra Nadaj; Kaminsky, Anne-Laure; Svahn, Juliette; Manel, Veronique; Bouhour, Francoise; Pegat, Antoine
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

纯合COQ7突变: 潜在可治疗的远端遗传性运动神经病的新原因

BRAIN
IF11.7
2022-12-0114
OAAI
Jacquier, Arnaud; Theuriet, Julian; Fontaine, Fanny; Mosbach, Valentine; Lacoste, Nicolas; Ribault, Shams; Risson, Valerie; Carras, Julien; Coudert, Laurent; Simonet, Thomas; Latour, Philippe; Stojkovic, Tanya; Piard, Juliette; Cosson, Anne; Lesca, Gaetan; Bouhour, Francoise; Allouche, Stephane; Puccio, Helene; Pegat, Antoine; Schaeffer, Laurent
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons
ACTA NEUROPATHOLOGICA
IF9.3
2022-08-104
OAAI
Jacquier, Arnaud; Risson, Valerie; Simonet, Thomas; Roussange, Florine; Lacoste, Nicolas; Ribault, Shams; Carras, Julien; Theuriet, Julian; Girard, Emmanuelle; Grosjean, Isabelle; Le Goff, Laure; Kroger, Stephan; Meltoranta, Julia; Bauche, Stephanie; Sternberg, Damien; Fournier, Emmanuel; Kostera-Pruszczyk, Anna; O'Connor, Emily; Eymard, Bruno; Lochmuller, Hanns; Martinat, Cecile; Schaeffer, Laurent
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

由于NEFH变体引起的2CC型charcot-marie-tooth疾病导致进行性，非长度依赖性，运动主导表型

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
2021-09-1311
OAAI
Pipis, Menelaos; Cortese, Andrea; Polke, James M.; Poh, Roy; Vandrovcova, Jana; Laura, Matilde; Skorupinska, Mariola; Jacquier, Arnaud; Juntas-Morales, Raul; Latour, Philippe; Petiot, Philippe; Sole, Guilhem; Fromes, Yves; Shah, Sachit; Blake, Julian; Choi, Byung-Ok; Chung, Ki Wha; Stojkovic, Tanya; Rossor, Alexander M.; Reilly, Mary M.
Systematic elucidation of neuron-astrocyte interaction in models of amyotrophic lateral sclerosis using multi-modal integrated bioinformatics workflow

使用多模式集成生物信息学工作流系统阐明肌萎缩侧索硬化模型中的神经元-星形胶质细胞相互作用

NATURE COMMUNICATIONS
IF15.7
2020-11-0430
OAAI
Mishra, Vartika; Re, Diane B.; Le Verche, Virginia; Alvarez, Mariano J.; Vasciaveo, Alessandro; Jacquier, Arnaud; Doulias, Paschalis-Tomas; Greco, Todd M.; Nizzardo, Monica; Papadimitriou, Dimitra; Nagata, Tetsuya; Rinchetti, Paola; Perez-Torres, Eduardo J.; Politi, Kristin A.; Ikiz, Burcin; Clare, Kevin; Than, Manuel E.; Corti, Stefania; Ischiropoulos, Harry; Lotti, Francesco; Califano, Andrea; Przedborski, Serge

研究方向

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L
Laurent Schaeffer
H 指数:45论文数:224被引数:9,192
P
Philippe Latour
H 指数:35论文数:186被引数:4,244
N
Nicolas Lacoste
H 指数:18论文数:40被引数:4,449
J
Julian Theuriet
H 指数:7论文数:30被引数:141
S
Serge Przedborski
H 指数:123论文数:384被引数:5.4万
T
Tanya Stojkovic
H 指数:59论文数:446被引数:1.1万
D
Diane B. Ré
H 指数:23论文数:62被引数:3,195
S
Shams Ribault
H 指数:7论文数:28被引数:182
G
Georg Haase
H 指数:24论文数:68被引数:3,148
V
Valérie Risson
H 指数:14论文数:32被引数:1,241