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F

Frédéric Darios

université de monastir
H指数:35
被引数:4,196

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MAPT mutations in amyotrophic lateral sclerosis: clinical, neuropathological and functional insights

肌萎缩侧索硬化症中的MAPT突变：临床、神经病理学及功能方面的见解

JOURNAL OF NEUROLOGY
IF4.6
2025-03-180
OA
De Bertier, Sibylle; Lautrette, Geraldine; Amador, Maria-del-Mar; Miki, Tomoko; Boillee, Severine; Lobsiger, Christian Stefan; Bohl, Delphine; Darios, Frederic; Machat, Selma; Duchesne, Mathilde; Vourc'h, Patrick; Fauret-Amsellem, Anne-Laure; Corcia, Philippe; Guy, Nathalie; Couratier, Philippe; Seilhean, Danielle; Millecamps, Stephanie
Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice
NEUROBIOLOGY OF DISEASE
IF5.6
2024-09-010
OAAI
Fortier, Manon; Cauhape, Margaux; Buono, Suzie; Becker, Julien; Menuet, Alexia; Branchu, Julien; Ricca, Ivana; Mero, Serena; Dorgham, Karim; El Hachimi, Khalid-Hamid; Dobrenis, Kostantin; Colsch, Benoit; Samaroo, Dominic; Devaux, Morgan; Durr, Alexandra; Stevanin, Giovanni; Santorelli, Filippo M.; Colombo, Sophie; Cowling, Belinda; Darios, Frederic
Implication of folate deficiency in CYP2U1 loss of function
JOURNAL OF EXPERIMENTAL MEDICINE
IF10.6
2021-09-2112
OAAI
Pujol, Claire; Legrand, Anne; Parodi, Livia; Thomas, Priscilla; Mochel, Fanny; Saracino, Dario; Coarelli, Giulia; Croon, Marijana; Popovic, Milica; Valet, Manon; Villain, Nicolas; Elshafie, Shahira; Issa, Mahmoud; Zuily, Stephane; Renaud, Mathilde; Marelli-Tosi, Cecilia; Legendre, Marine; Trimouille, Aurelien; Kemlin, Isabelle; Mathieu, Sophie; Gleeson, Joseph G.; Lamari, Foudil; Galatolo, Daniele; Alkouri, Rana; Tse, Chantal; Rodriguez, Diana; Ewenczyk, Claire; Fellmann, Florence; Kuntzer, Thierry; Blond, Emilie; El Hachimi, Khalid H.; Darios, Frederic; Seyer, Alexandre; Gazi, Anastasia D.; Giavalisco, Patrick; Perin, Silvina; Boucher, Jean-Luc; Le Corre, Laurent; Santorelli, Filippo M.; Goizet, Cyril; Zaki, Maha S.; Picaud, Serge; Mourier, Arnaud; Steculorum, Sophie Marie; Mignot, Cyril; Durr, Alexandra; Trifunovic, Aleksandra; Stevanin, Giovanni
Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination
PLOS GENETICS
IF3.7
2018-08-0114
OAAI
Duchesne, Amandine; Vaiman, Anne; Frah, Magali; Floriot, Sandrine; Legoueix-Rodriguez, Sabrina; Desmazieres, Anne; Fritz, Sebastien; Beauvallet, Christian; Albaric, Olivier; Venot, Eric; Bertaud, Maud; Saintilan, Romain; Guatteo, Raphael; Esquerre, Diane; Branchu, Julien; Fleming, Anais; Brice, Alexis; Darios, Frederic; Vilotte, Jean-Luc; Stevanin, Giovanni; Boichard, Didier; El Hachimi, Khalid Hamid
Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration
CELL REPORTS
IF6.9
2018-06-0158
OAAI
Boutry, Maxime; Branchu, Julien; Lustremant, Celine; Pujol, Claire; Pernelle, Julie; Matusiak, Raphael; Seyer, Alexandre; Poirel, Marion; Chu-Van, Emeline; Pierga, Alexandre; Dobrenis, Kostantin; Puech, Jean-Philippe; Caillaud, Catherine; Durr, Alexandra; Brice, Alexis; Colsch, Benoit; Mochel, Fanny; El Hachimi, Khalid Hamid; Stevanin, Giovanni; Darios, Frederic
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56
HUMAN MUTATION
IF3.7
2017-11-1122
OAAI
Durand, Christelle M.; Dhers, Laura; Tesson, Christelle; Tessa, Alessandra; Fouillen, Laetitia; Jacquere, Stephanie; Raymond, Laure; Coupry, Isabelle; Benard, Giovanni; Darios, Frederic; El- Hachimi, Khalid H.; Astrea, Guja; Rivier, Francois; Banneau, Guillaume; Pujol, Claire; Lacombe, Didier; Durr, Alexandra; Babin, Patrick J.; Santorelli, Filippo M.; Pietrancosta, Nicolas; Boucher, Jean-Luc; Mansuy, Daniel; Stevanin, Giovanni; Goizet, Cyril
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2016-09-0731
OAAI
Elsayed, Liena E. O.; Mohammed, Inaam N.; Hamed, Ahlam A. A.; Elseed, Maha A.; Johnson, Adam; Mairey, Mathilde; Mohamed, Hassab Elrasoul S. A.; Idris, Mohamed N.; Salih, Mustafa A. M.; El-sadig, Sarah M.; Koko, Mahmoud E.; Mohamed, Ashraf Y. O.; Raymond, Laure; Coutelier, Marie; Darios, Frederic; Siddig, Rayan A.; Ahmed, K. M. A. Ahmed; Babai, Arwa M. A.; Malik, Hiba M. O.; Omer, Zulfa M. B. M.; Mohamed, Eman O. E.; Eltahir, Hanan B.; Magboul, Nasr Aldin A.; Bushara, Elfatih E.; Elnour, Abdelrahman; Rahim, Salah M. Abdel; Alattaya, Abdelmoneim; Elbashir, Mustafa I.; Ibrahim, Muntaser E.; Durr, Alexandra; Audhya, Anjon; Brice, Alexis; Ahmed, Ammar E.; Stevanin, Giovanni
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
BRAIN
IF11.7
2015-05-2981
OAAI
Coutelier, Marie; Goizet, Cyril; Durr, Alexandra; Habarou, Florence; Morais, Sara; Dionne-Laporte, Alexandre; Tao, Feifei; Konop, Juliette; Stoll, Marion; Charles, Perrine; Jacoupy, Maxime; Matusiak, Raphael; Alonso, Isabel; Tallaksen, Chantal; Mairey, Mathilde; Kennerson, Marina; Gaussen, Marion; Schule, Rebecca; Janin, Maxime; Morice-Picard, Fanny; Durand, Christelle M.; Depienne, Christel; Calvas, Patrick; Coutinho, Paula; Saudubray, Jean-Marie; Rouleau, Guy; Brice, Alexis; Nicholson, Garth; Darios, Frederic; Loureiro, Jose L.; Zuchner, Stephan; Ottolenghi, Chris; Mochel, Fanny; Stevanin, Giovanni
Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2014-02-0180
OAAI
Esteves, Typhaine; Durr, Alexandra; Mundwiller, Emeline; Loureiro, Jose L.; Boutry, Maxime; Gonzalez, Michael A.; Gauthier, Julie; El-Hachimi, Khalid H.; Depienne, Christel; Muriel, Marie-Paule; Lebrigio, Rafael F. Acosta; Gaussen, Marion; Noreau, Anne; Speziani, Fiorella; Dionne-Laporte, Alexandre; Deleuze, Jean-Francois; Dion, Patrick; Coutinho, Paula; Rouleau, Guy A.; Zuchner, Stephan; Brice, Alexis; Stevanin, Giovanni; Darios, Frederic

研究方向

暂未获取到该数据
G
Giovanni Stévanin
H 指数:83论文数:385被引数:2.1万
A
Alexis Brice
H 指数:153论文数:1,192被引数:11.6万
A
Alexandra Dürr
H 指数:119论文数:860被引数:5.9万
B
Bazbek Davletov
H 指数:49论文数:129被引数:9,036
F
Fanny Mochel
H 指数:58论文数:279被引数:1.0万
F
Filippo M. Santorelli
H 指数:75论文数:864被引数:2.2万
J
Julien Branchu
H 指数:13论文数:28被引数:933
K
Khalid Hamid El Hachimi
H 指数:20论文数:47被引数:1,432
C
Cyril Goizet
H 指数:65论文数:320被引数:1.3万
T
Typhaine Esteves
H 指数:7论文数:15被引数:623