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M

Miquel Raspall-Chaure

shamir medical center (assaf harofeh)
H指数:23
被引数:2,763

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Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia

双等位基因PI4KA突变破坏b细胞代谢并导致b细胞淋巴细胞减少和低丙种球蛋白血症

JOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
2024-09-231
PRE
Saettini, Francesco; Guerra, Fabiola; Mauri, Mario; Salter, Claire G.; Adam, Margaret P.; Adams, David; Baple, Emma L.; Barredo, Estibaliz; Bhatia, Sanil; Borkhardt, Arndt; Brusco, Alfredo; Bugarin, Cristina; Chinello, Clizia; Crosby, Andrew H.; D'Souza, Precilla; Denti, Vanna; Fazio, Grazia; Giuliani, Silvia; Kuehn, Hye Sun; Amel, Hassan; Elmi, Asha; Lo, Bernice; Malighetti, Federica; Mandrile, Giorgia; Martin-Nalda, Andrea; Mefford, Heather C.; Moratto, Daniele; Mousavi, Fatemeh Emam; Nelson, Zoe; Gutierrez-Solana, Luis Gonzalez; Macnamara, Ellen; Michaud, Vincent; O'Leary, Melanie; Pagani, Lisa; Pavinato, Lisa; Santamaria, Patricia VVelez; Planas-Serra, Laura; Quadri, Manuel; Raspall-Chaure, Miquel; Rebellato, Stefano; Rosenzweig, Sergio D.; Roubertie, Agathe; Holzinger, Dirk; Deal, Christin; Vockley, Catherine Walsh; Savino, Angela Maria; Stoddard, Jennifer L.; Uhlig, Holm H.; Pujol, Aurora; Magni, Fulvio; Paglia, Giuseppe; Cazzaniga, Gianni; Piazza, Rocco; Barberis, Matteo; Biondi, Andrea
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

双等位基因PI4KA变体引起一种新的神经发育综合征，伴有低髓性脑白质营养不良

BRAIN
IF11.7
2021-08-2026
OAAI
Verdura, Edgard; Rodriguez-Palmero, Agusti; Velez-Santamaria, Valentina; Planas-Serra, Laura; de la Calle, Irene; Raspall-Chaure, Miquel; Roubertie, Agathe; Benkirane, Mehdi; Saettini, Francesco; Pavinato, Lisa; Mandrile, Giorgia; O'Leary, Melanie; O'Heir, Emily; Barredo, Estibaliz; Chacon, Almudena; Michaud, Vincent; Goizet, Cyril; Ruiz, Montserrat; Schluter, Agatha; Rouvet, Isabelle; Sala-Coromina, Julia; Fossati, Chiara; Iascone, Maria; Canonico, Francesco; Marce-Grau, Anna; de Souza, Precilla; Adams, David R.; Casasnovas, Carlos; Rehm, Heidi L.; Mefford, Heather C.; Gonzalez Gutierrez-Solana, Luis; Brusco, Alfredo; Koenig, Michel; Macaya, Alfons; Pujol, Aurora
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

AMPA受体GluA2亚基缺陷是神经发育障碍的一个原因

NATURE COMMUNICATIONS
IF15.7
2019-07-12159
OAAI
Salpietro, Vincenzo; Dixon, Christine L.; Guo, Hui; Bello, Oscar D.; Vandrovcova, Jana; Efthymiou, Stephanie; Maroofian, Reza; Heimer, Gali; Burglen, Lydie; Valence, Stephanie; Torti, Erin; Hacke, Moritz; Rankin, Julia; Tariq, Huma; Colin, Estelle; Procaccio, Vincent; Striano, Pasquale; Mankad, Kshitij; Lieb, Andreas; Chen, Sharon; Pisani, Laura; Bettencourt, Conceicao; Mannikko, Roope; Manole, Andreea; Brusco, Alfredo; Grosso, Enrico; Ferrero, Giovanni Battista; Armstrong-Moron, Judith; Gueden, Sophie; Bar-Yosef, Omer; Tzadok, Michal; Monaghan, Kristin G.; Santiago-Sim, Teresa; Person, Richard E.; Cho, Megan T.; Willaert, Rebecca; Yoo, Yongjin; Chae, Jong-Hee; Quan, Yingting; Wu, Huidan; Wang, Tianyun; Bernier, Raphael A.; Xia, Kun; Blesson, Alyssa; Jain, Mahim; Motazacker, Mohammad M.; Jaeger, Bregje; Schneider, Amy L.; Boysen, Katja; Muir, Alison M.; Myers, Candace T.; Gavrilova, Ralitza H.; Gunderson, Lauren; Schultz-Rogers, Laura; Klee, Eric W.; Dyment, David; Osmond, Matthew; Parellada, Mara; Llorente, Cloe; Gonzalez-Penas, Javier; Carracedo, Angel; Van Haeringen, Arie; Ruivenkamp, Claudia; Nava, Caroline; Heron, Delphine; Nardello, Rosaria; Iacomino, Michele; Minetti, Carlo; Skabar, Aldo; Fabretto, Antonella; Chez, Michael; Tsai, Anne; Fassi, Emily; Shinawi, Marwan; Constantino, John N.; De Zorzi, Rita; Fortuna, Sara; Kok, Fernando; Keren, Boris; Bonneau, Dominique; Choi, Murim; Benzeev, Bruria; Zara, Federico; Mefford, Heather C.; Scheffer, Ingrid E.; Clayton-Smith, Jill; Macaya, Alfons; Rothman, James E.; Eichler, Evan E.; Kullmann, Dimitri M.; Houlden, Henry; Raspall-Chaure, Miquel; Hanna, Michael G.; Bugiardini, Enrico; Hostettler, Isabel; O'Callaghan, Benjamin; Khan, Alaa; Cortese, Andrea; O'Connor, Emer; Yau, Wai Y.; Bourinaris, Thomas; Kaiyrzhanov, Rauan; Chelban, Viorica; Madej, Monika; Diana, Maria C.; Vari, Maria S.; Pedemonte, Marina; Bruno, Claudio; Balagura, Ganna; Scala, Marcello; Fiorillo, Chiara; Nobili, Lino; Malintan, Nancy T.; Zanetti, Maria N.; Krishnakumar, Shyam S.; Lignani, Gabriele; Jepson, James E. C.; Broda, Paolo; Baldassari, Simona; Rossi, Pia; Fruscione, Floriana; Madia, Francesca; Traverso, Monica; De-Marco, Patrizia; Perez-Duenas, Belen; Munell, Francina; Kriouile, Yamna; El-Khorassani, Mohamed; Karashova, Blagovesta; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Van-Maldergem, Lionel; Nachbauer, Wolfgang; Boesch, Sylvia; Gagliano, Antonella; Amadori, Elisabetta; Goraya, Jatinder S.; Sultan, Tipu; Kirmani, Salman; Ibrahim, Shahnaz; Jan, Farida; Mine, Jun; Banu, Selina; Veggiotti, Pierangelo; Zuccotti, Gian, V; Ferrari, Michel D.; Van Den Maagdenberg, Arn M. J.; Verrotti, Alberto; Marseglia, Gian L.; Savasta, Salvatore; Soler, Miguel A.; Scuderi, Carmela; Borgione, Eugenia; Chimenz, Roberto; Gitto, Eloisa; Dipasquale, Valeria; Sallemi, Alessia; Fusco, Monica; Cuppari, Caterina; Cutrupi, Maria C.; Ruggieri, Martino; Cama, Armando; Capra, Valeria; Mencacci, Niccolo E.; Boles, Richard; Gupta, Neerja; Kabra, Madhulika; Papacostas, Savvas; Zamba-Papanicolaou, Eleni; Dardiotis, Efthymios; Maqbool, Shazia; Rana, Nuzhat; Atawneh, Osama; Lim, Shen Y.; Shaikh, Farooq; Koutsis, George; Breza, Marianthi; Coviello, Domenico A.; Dauvilliers, Yves A.; AlKhawaja, Issam; AlKhawaja, Mariam; Al-Mutairi, Fuad; Stojkovic, Tanya; Ferrucci, Veronica; Zollo, Massimo; Alkuraya, Fowzan S.; Kinali, Maria; Sherifa, Hamed; Benrhouma, Hanene; Turki, Ilhem B. Y.; Tazir, Meriem; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Zaki, Maha S.; Triki, Chahnez C.; Benfenati, Fabio; Gustincich, Stefano; Kara, Majdi; Belcastro, Vincenzo; Specchio, Nicola; Capovilla, Giuseppe; Karimiani, Ehsan G.; Salih, Ahmed M.; Okubadejo, Njideka U.; Ojo, Oluwadamilola O.; Oshinaike, Olajumoke O.; Oguntunde, Olapeju; Wahab, Kolawole; Bello, Abiodun H.; Abubakar, Sanni; Obiabo, Yahaya; Nwazor, Ernest; Ekenze, Oluchi; Williams, Uduak; Iyagba, Alagoma; Taiwo, Lolade; Komolafe, Morenikeji; Senkevich, Konstantin; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Rossi, Salvatore; Silvestri, Gabriella; Haridy, Nourelhoda; Ramenghi, Luca A.; Xiromerisiou, Georgia; David, Emanuele; Aguennouz, Mhammed; Fidani, Liana; Spanaki, Cleanthe; Tucci, Arianna
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

神经元囊泡圈套VAMP2的突变影响突触膜融合并损害人类神经发育

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-04-0188
OAAI
Salpietro, Vincenzo; Malintan, Nancy T.; Llano-Rivas, Isabel; Spaeth, Christine G.; Efthymiou, Stephanie; Striano, Pasquale; Vandrovcova, Jana; Cutrupi, Maria C.; Chimenz, Roberto; David, Emanuele; Di Rosa, Gabriella; Marce-Grau, Anna; Raspall-Chaure, Miquel; Martin-Hernandez, Elena; Zara, Federico; Minetti, Carlo; Bello, Oscar D.; De Zorzi, Rita; Fortuna, Sara; Dauber, Andrew; Alkhawaja, Mariam; Sultan, Tipu; Mankad, Kshitij; Vitobello, Antonio; Thomas, Quentin; Mau-Them, Frederic Tran; Faivre, Laurence; Martinez-Azorin, Francisco; Prada, Carlos E.; Macaya, Alfons; Kullmann, Dimitri M.; Rothman, James E.; Krishnakumar, Shyam S.; Houlden, Henry
Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

13例新的胍基乙酸甲基转移酶缺乏症患者和GAMT基因中19种新型错义变体的功能表征

HUMAN MUTATION
IF3.7
2014-03-0640
PREAI
Mercimek-Mahmutoglu, Saadet; Ndika, Joseph; Kanhai, Warsha; de Villemeur, Thierry Billette; Cheillan, David; Christensen, Ernst; Dorison, Nathalie; Hannig, Vickie; Hendriks, Yvonne; Hofstede, Floris C.; Lion-Francois, Laurence; Lund, Allan M.; Mundy, Helen; Pitelet, Gaele; Raspall-Chaure, Miquel; Scott-Schwoerer, Jessica A.; Szakszon, Katalin; Valayannopoulos, Vassili; Williams, Monique; Salomons, Gajja S.
Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2013-09-0175
OAAI
Basel-Vanagaite, Lina; Hershkovitz, Tova; Heyman, Eli; Raspall-Chaure, Miguel; Kakar, Naseebullah; Smirin-Yosef, Pola; Vila-Pueyo, Marta; Kornreich, Liora; Thiele, Holger; Bode, Harald; Lagovsky, Irina; Dahary, Dvir; Haviv, Ami; Hubshman, Monika Weisz; Pasmanik-Chor, Metsada; Nuernberg, Peter; Gothelf, Doron; Kubisch, Christian; Shohat, Mordechai; Macaya, Alfons; Borck, Guntram
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor β1 deficiency:: Medical and immunological implications

低外显率，广泛耐药性和白介素12受体 β1缺乏症的有利结果: 医学和免疫学意义

JOURNAL OF EXPERIMENTAL MEDICINE
IF10.6
2003-02-17250
OAAI
Fieschi, C; Dupuis, S; Catherinot, E; Feinberg, J; Bustamante, J; Breiman, A; Altare, F; Baretto, R; Le Deist, F; Kayal, S; Koch, H; Richter, D; Brezina, M; Aksu, G; Wood, P; Al-Jumaah, S; Raspall, M; Duarte, AJD; Tuerlinckx, D; Virelizier, JL; Fischer, A; Enright, A; Bernhöft, J; Cleary, AM; Vermylen, C; Rodriguez-Gallego, C; Davies, G; Blütters-Sawatzki, R; Siegrist, CA; Ehlayel, MS; Novelli, V; Haas, WH; Levy, J; Freihorst, J; Al-Hajar, S; Nadal, D; Vasconcelos, DD; Jeppsson, O; Kutukculer, N; Frecerova, K; Caragol, I; Lammas, D; Kumararatne, DS; Abel, L; Casanova, JL

研究方向

暂未获取到该数据
A
Alfons Macaya
H 指数:50论文数:254被引数:1.1万
A
Anna Marcé‐Grau
H 指数:21论文数:52被引数:1,163
A
Alfredo Brusco
H 指数:45论文数:351被引数:1.2万
J
Jean‐Laurent Casanova
H 指数:171论文数:1,411被引数:11.8万
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.4万
D
Dimitri M. Kullmann
H 指数:82论文数:505被引数:2.0万
J
Jana Vandrovcová
H 指数:45论文数:167被引数:9,317
M
Melanie O’Leary
H 指数:18论文数:57被引数:1,272
A
Aurora Pujol
H 指数:64论文数:233被引数:2.3万
S
Stéphanie Efthymiou
H 指数:34论文数:238被引数:4,486