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S

Slim Azouzi

université paris cité and université des antilles and inserm and efs
H指数:13
被引数:543

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Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

PIGB基因双等位基因变异导致伴有传导阻滞和周围神经高兴奋性的运动神经病变

Annals of Neurology
IF7.7
2026-10-010
OAAI
Gorka Fernández-Eulate MD, PhD; Romain Duval PhD; Marina Konyukh MD, PhD; Alessandro Bertini MD; Ayse Candayan PhD; Albena Jordanova PhD; Theresa Brunet MD; Wolfgang Müller-Felber MD; Helena F. Pernice MD; Katrin Hahn MD; Nadja Ehmke MD; Juliane Beuschlein MD; Bertrand Isidor MD, PhD; Benjamin Cogné PharmD, PhD; Yann Péréon MD, PhD; Annabelle Chaussenot MD; John Rendu PharmD, PhD; Aysylu Murtazina MD, PhD; Dmitrii Subbotin MD; Artem Borovikov MD, PhD; Andrey Marakhonov PhD; Chiara Pisciotta MD, PhD; Paola Saveri BSc; Daniele Cazzato MD, PhD; Lucie Lemeray; Bérengère Koehl MD, PhD; Jean-Madeleine de Sainte-Agathe MD, PhD; Stefano Facchini PhD; Ilaria Quartesan MD; Andrea Cortese MD, PhD; Yesim Parman MD; Arman Cakar MD; Davide Pareyson MD; Slim Azouzi PhD; Tanya Stojkovic MD
Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype
EMBO MOLECULAR MEDICINE
IF8.3
2023-01-254
OAAI
Koehl, Berengere; Vrignaud, Cedric; Mikdar, Mahmoud; Nair, Thankam S.; Yang, Lucy; Landry, Seyve; Laiguillon, Guy; Giroux-Lathuile, Claudine; Anselme-Martin, Sophie; El Kenz, Hanane; Hermine, Olivier; Mohandas, Narla; Cartron, Jean Pierre; Colin, Yves; Detante, Olivier; Marlu, Raphael; Le Van Kim, Caroline; Carey, Thomas E.; Azouzi, Slim; Peyrard, Thierry

研究方向

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C
Caroline Le Van Kim
H 指数:48论文数:210被引数:8,794
B
Bérengère Koehl
H 指数:16论文数:93被引数:873
Y
Yves Colin
H 指数:56论文数:285被引数:1.1万
S
Sandrine Morandat
H 指数:19论文数:51被引数:1,289
T
Thierry Peyrard
H 指数:26论文数:187被引数:2,602
K
Karim El Kirat
H 指数:25论文数:95被引数:2,208
P
Pascal Amireault
H 指数:19论文数:61被引数:1,300
M
Mahmoud Mikdar
H 指数:5论文数:16被引数:117
O
Olivier Hermine
H 指数:135论文数:1,809被引数:6.4万
R
Romain Duval
H 指数:14论文数:37被引数:857