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N

Nicolas Leboucq

universite toulouse iii - paul sabatier
H指数:22
被引数:2,491
浏览量:0

个人简介

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教育背景

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荣誉奖项

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Distinguishing atypical focal areas of signal intensity from probable low-grade gliomas in the posterior fossa of children with neurofibromatosis type 1
ARCHIVES DE PEDIATRIE
IF1.4
2025-10-010
OAAI
Viguier, Agnes; Estublier, Bastien; Bertozzi, Anne-Isabelle; Gambart, Marion; Sevely, Annick; Leboucq, Nicolas; Antherieu, Pierre; Rivier, Francois; Meyer, Pierre; Bessis, Didier; Chaix, Yves; Baudou, Eloise
52nd Annual Congress of the SFNR
JOURNAL OF NEURORADIOLOGY
IF3.3
2025-03-010
PRE
Costalat, Vincent; Leboucq, Nicolas; de Champfleur, Nicolas Menjot
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa
JCI INSIGHT
IF6.1
2023-11-085
OA
Bocquet, Beatrice; Borday, Caroline; Erkilic, Nejla; Mamaeva, Daria; Donval, Alicia; Masson, Christel; Parain, Karine; Kaminska, Karolina; Quinodoz, Mathieu; Perea-Romero, Irene; Garcia-Garcia, Gema; Jimenez-Medina, Carla; Boukhaddaoui, Hassan; Coget, Arthur; Leboucq, Nicolas; Calzetti, Giacomo; Gandolfi, Stefano; Percesepe, Antonio; Barili, Valeria; Uliana, Vera; Delsante, Marco; Bozzetti, Francesca; Scholl, Hendrik P. N.; Corton, Marta; Ayuso, Carmen; Millan, Jose M.; Rivolta, Carlo; Meunier, Isabelle; Perron, Muriel; Kalatzis, Vasiliki
Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2023-07-251
OA
Baide-Mairena, Heidy; Coget, Arthur; Leboucq, Nicolas; Procaccio, Vincent; Blanluet, Maud; Meyer, Pierre; Malinge, Marie-Claire; Francois-Heude, Marie-Celine; Moreno, Mathis; Genevieve, David; Marelli, Cecilia; Roubertie, Agathe
Cerebral sinovenous thrombosis associated with head/neck infection in children: Clues for improved management
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
IF4.3
2022-06-296
OA
Narcy, Lucie; Durand, Sabine; Grimaud, Marion; Leboucq, Nicolas; Grevent, David; Cambonie, Gilles; Couloigner, Vincent; Rivier, Francois; Meyer, Pierre; Kossorotoff, Manoelle
Novel dominant distal titinopathy phenotype associated with copy number variation
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2021-07-273
OAAI
Perrin, Aurelien; Morales, Raul Juntas; Chapon, Francoise; Theze, Corinne; Lacourt, Delphine; Pegeot, Henri; Uro-Coste, Emmanuelle; Giovannini, Diane; Leboucq, Nicolas; Mallaret, Martial; Lagrange, Emmeline; Rigau, Valerie; Gaudon, Karen; Richard, Pascale; Koenig, Michel; Metay, Corinne; Cossee, Mireille
Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?
Mitochondrion
IF4.5
2021-07-016
OAAI
Gueguen, Naig; Piarroux, Julie; Sarzi, Emmanuelle; Benkirane, Mehdi; Manes, Gael; Delettre, Cecile; Amedro, Pascal; Leboucq, Nicolas; Koenig, Michel; Meyer, Pierre; Meunier, Isabelle; Reynier, Pascal; Lenaers, Guy; Roubertie, Agathe
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2021-06-2498
OA
Collier, Jack J.; Guissart, Claire; Olahova, Monika; Sasorith, Souphatta; Piron-Prunier, Florence; Suomi, Fumi; Zhang, David; Martinez-Lopez, Nuria; Leboucq, Nicolas; Bahr, Angela; Azzarello-Burri, Silvia; Reich, Selina; Schoels, Ludger; Polvikoski, Tuomo M.; Meyer, Pierre; Larrieu, Lise; Schaefer, Andrew M.; Alsaif, Hessa S.; Alyamani, Suad; Zuchner, Stephan; Barbosa, Ines A.; Deshpande, Charu; Pyle, Angela; Rauch, Anita; Synofzik, Matthis; Alkuraya, Fowzan S.; Rivier, Francois; Ryten, Mina; McFarland, Robert; Delahodde, Agnes; McWilliams, Thomas G.; Koenig, Michel; Taylor, Robert W.
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2020-02-266
OAAI
Curie, Aurore; Touil, Nathalie; Gaillard, Segolene; Galanaud, Damien; Leboucq, Nicolas; Deschenes, Georges; Morin, Denis; Abad, Fanny; Luaute, Jacques; Bodenan, Eurielle; Roche, Laurent; Acquaviva, Cecile; Vianey-Saban, Christine; Cochat, Pierre; Cotton, Francois; Bertholet-Thomas, Aurelia
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2019-07-277
OAAI
Roubertie, Agathe; Charif, Majida; Meyer, Pierre; Manes, Gael; Meunier, Isabelle; Taieb, Guillaume; Morales, Raul Junta; Guichet, Agnes; Delettre, Cecile; Sarzi, Emmanuelle; Leboucq, Nicolas; Rivier, Francois; Lenaers, Guy
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-05-0149
OAAI
Guissart, Claire; Latypova, Xenia; Rollier, Paul; Khan, Tahir N.; Stamberger, Hannah; McWalter, Kirsty; Cho, Megan T.; Kjaergaard, Susanne; Weckhuysen, Sarah; Lesca, Gaetan; Besnard, Thomas; Ounap, Katrin; Schema, Lynn; Chiocchetti, Andreas G.; McDonald, Marie; de Bellescize, Julitta; Vincent, Marie; Van Esch, Hilde; Sattler, Shannon; Forghani, Irman; Thiffault, Isabelle; Freitag, Christine M.; Barbouth, Deborah Sara; Cadieux-Dion, Maxime; Willaert, Rebecca; Sacoto, Maria J. Guillen; Safina, Nicole P.; Dubourg, Christele; Grote, Lauren; Carre, Wilfrid; Saunders, Carol; Pajusalu, Sander; Farrow, Emily; Boland, Anne; Karlowicz, Danielle Hays; Deleuze, Jean-Francois; Wojcik, Monica H.; Pressman, Rena; Isidor, Bertrand; Vogels, Annick; Van Paesschen, Wim; Al-Gazali, Lihadh; Al Shamsi, Aisha Mohamed; Claustres, Mireille; Pujol, Aurora; Sanders, Stephan J.; Rivier, Francois; Leboucq, Nicolas; Cogne, Benjamin; Sasorith, Souphatta; Sanlaville, Damien; Retterer, Kyle; Odent, Sylvie; Katsanis, Nicholas; Bezieau, Stephane; Koenig, Michel; Davis, Erica E.; Pasquier, Laurent; Kury, Sebastien
AP4 deficiency A novel form of neurodegeneration with brain iron accumulation?
NEUROLOGY-GENETICS
IF3.7
2018-02-0128
OAAI
Roubertie, Agathe; Hieu, Nelson; Roux, Charles-Joris; Leboucq, Nicolas; Manes, Gael; Charif, Majida; Echenne, Bernard; Goizet, Cyril; Guissart, Claire; Meyer, Pierre; Marelli, Cecilia; Rivier, Francois; Burglen, Lydie; Horvath, Rita; Hamel, Christian P.; Lenaers, Guy
The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
IF11.8
2017-03-0123
PREAI
Bessis, Didier; Bigorre, Michele; Malissen, Nausicaa; Captier, Guillaume; Chiaverini, Christine; Abasq, Claire; Barbarot, Sebastien; Boccara, Olivia; Bourrat, Emmanuelle; El Fertit, Hassan; Eschard, Catherine; Hubiche, Thomas; Lacour, Jean-Philippe; Leboucq, Nicolas; Mahe, Emmanuel; Mallet, Stephanie; Marque, Myriam; Martin, Ludovic; Mazereeuw-Hautier, Juliette; Milla, Nathalie; Phan, Alice; Plantin, Patrice; Picot, Marie-Christine; Puzenat, Eve; Rigau, Valerie; Vabres, Pierre; Fraitag, Sylvie; Boralevi, Franck
Interhypothalamic adhesion and multiple cerebral abnormalities in a 2-year-old boy
JOURNAL OF NEURORADIOLOGY
IF3.3
2017-02-013
OAAI
Loubet, Antoine; Dargazanli, Cyril; Roux, Charles Joris; Rivier, Francois; de Champfleur, Nicolas Menjot; Leboucq, Nicolas
Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood
JOURNAL OF NEURORADIOLOGY
IF3.3
2016-06-017
PREAI
Perucca, Giulia; Leboucq, Nicolas; Roubertie, Agathe; Rivier, Francois; Menjot, Nicolas; Valentini, Consuelo; Bonafe, Alain
Reversible growth failure and complete GH deficiency in a 4-year-old girl with very early Hashimoto's thyroiditis and subsequent hyperplasia of pituitary thyrotroph cells
EUROPEAN JOURNAL OF PEDIATRICS
IF2.6
2016-02-023
PREAI
Gaspari, Laura; Paris, Francoise; Leboucq, Nicolas; Bonafe, Alain; Sultan, Charles
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2015-09-2333
OAAI
Zillhardt, Julia Lauer; Poirier, Karine; Broix, Loic; Lebrun, Nicolas; Elmorjani, Adrienne; Martinovic, Jelena; Saillour, Yoann; Muraca, Giuseppe; Nectoux, Juliette; Bessieres, Bettina; Fallet-Bianco, Catherine; Lyonnet, Stanislas; Dulac, Olivier; Odent, Sylvie; Rejeb, Imen; Ben Jemaa, Lamia; Rivier, Francois; Pinson, Lucile; Genevieve, David; Musizzano, Yuri; Bigi, Nicole; Leboucq, Nicolas; Giuliano, Fabienne; Philip, Nicole; Vilain, Catheline; Van Bogaert, Patrick; Maurey, Helsne; Beldjord, Cherif; Artiguenave, Franois; Boland, Anne; Olaso, Robert; Masson, Cecile; Nitschke, Patrick; Deleuze, Jean-Francois; Bahi-Buisson, Nadia; Chelly, Jamel
Complications and follow up of subarachnoid hemorrhages

蛛网膜下腔出血的并发症和随访

DIAGNOSTIC AND INTERVENTIONAL IMAGING
IF8.1
2015-07-0122
OAAI
Daniere, F.; Gascou, G.; de Champfleur, N. Menjot; Machi, P.; Leboucq, N.; Riquelme, C.; Ruiz, C.; Bonafe, A.; Costalat, V.
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability
HUMAN MOLECULAR GENETICS
IF3.2
2015-04-2144
OAAI
Angebault, Claire; Charif, Majida; Guegen, Naig; Piro-Megy, Camille; de Camaret, Benedicte Mousson; Procaccio, Vincent; Guichet, Pierre-Olivier; Hebrard, Maxime; Manes, Gael; Leboucq, Nicolas; Rivier, Francois; Hamel, Christian P.; Lenaers, Guy; Roubertie, Agathe
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction
JOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
2015-02-0121
PREAI
Roubertie, Agathe; Leboucq, Nicolas; Picot, Marie Christine; Nogue, Erika; Brunel, Herve; Le Bars, Emmanuelle; Manes, Gael; Prouteau, Claire Angebault; Blanchet, Catherine; Mondain, Michel; Chevassus, Hugues; Amati-Bonneau, Patrizia; Sarzi, Emmanuelle; Pages, Michel; Villain, Max; Meunier, Isabelle; Lenaers, Guy; Hamel, Christian P.

研究方向

暂未获取到该数据
F
François Rivier
H 指数:45论文数:255被引数:7,165
A
Agathe Roubertie
H 指数:49论文数:274被引数:8,175
P
Pierre Meyer
H 指数:23论文数:154被引数:2,276
G
Guy Lenaers
H 指数:55论文数:319被引数:1.3万
G
Gaël Manès
H 指数:23论文数:66被引数:1,432
I
Isabelle Meunier
H 指数:36论文数:230被引数:4,188
M
M. Kœnig
H 指数:65论文数:679被引数:2.4万
A
Alain Bonafé
H 指数:70论文数:535被引数:3.4万
B
Bernard Échenne
H 指数:41论文数:231被引数:6,376
E
Emmanuelle Sarzi
H 指数:20论文数:40被引数:2,361