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A

Aurelio Hernández-Laín

Hospital Universitario 12 De Octubre
H指数:10
被引数:500

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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Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression
BRAIN
IF11.7
2024-07-240
OAAI
Monceau, Alexandra; Nath, Rasya Gokul; Suarez-Calvet, Xavier; Musumeci, Olimpia; Toscano, Antonio; Kierdaszuk, Biruta; Kostera-Pruszczyk, Anna; Dominguez-Gonzalez, Cristina; Hernandez-Lain, Aurelio; Paradas, Carmen; Rivas, Eloy; Papadimas, George; Papadopoulos, Constantinos; Chrysanthou-Piterou, Margarita; Gallardo, Eduard; Olive, Montse; Lilleker, James; Roberts, Mark E.; Marchese, Domenica; Lunazzi, Giulia; Heyn, Holger; Fernandez-Simon, Esther; Villalobos, Elisa; Clark, James; Katsikis, Panos; Collins, Catherine; Mehra, Priyanka; Laidler, Zoe; Vincent, Amy; Tasca, Giorgio; Marini-Bettolo, Chiara; Guglieri, Michela; Straub, Volker; Raben, Nina; Diaz-Manera, Jordi
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
ACTA NEUROPATHOLOGICA
IF9.3
2022-10-2012
OA
Weihl, Conrad C.; Topf, Ana; Bengoechea, Rocio; Duff, Jennifer; Charlton, Richard; Garcia, Solange Kapetanovic; Dominguez-Gonzalez, Cristina; Alsaman, Abdulaziz; Hernandez-Lain, Aurelio; Franco, Luis Varona; Ponce Sanchez, Monica Elizabeth; Beecroft, Sarah J.; Goullee, Hayley; Daw, Jil; Bhadra, Ankan; True, Heather; Inoue, Michio; Findlay, Andrew R.; Laing, Nigel; Olive, Montse; Ravenscroft, Gianina; Straub, Volker
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum
JOURNAL OF MEDICAL GENETICS
IF3.7
2022-04-073
OA
Mroczek, Magdalena; Longman, Cheryl; Farrugia, Maria Elena; Garcia, Solange Kapetanovic; Ardicli, Didem; Topaloglu, Haluk; Hernandez-Lain, Aurelio; Orhan, Diclehan; Alikasifoglu, Mehmet; Duff, Jennifer; Specht, Sabine; Nowak, Kristen; Ravenscroft, Gianina; Chao, Katherine; Valivullah, Zaheer; Donkervoort, Sandra; Saade, Dimah; Bonnemann, Carsten; Straub, Volker; Yoon, Grace
HeterozygousCAPN3missense variants causing autosomal-dominant calpainopathy in seven unrelated families
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
IF3.4
2020-09-2822
PREAI
Gonzalez-Mera, L.; Ravenscroft, G.; Cabrera-Serrano, M.; Ermolova, N.; Dominguez-Gonzalez, C.; Arteche-Lopez, A.; Soltanzadeh, P.; Evesson, F.; Navas, C.; Mavillard, F.; Clayton, J.; Rodrigo, P.; Servian-Morilla, E.; Cooper, S. T.; Waddell, L.; Reardon, K.; Corbett, A.; Hernandez-Lain, A.; Sanchez, A.; Esteban Perez, J.; Paradas-Lopez, C.; Rivas-Infante, E.; Spencer, M.; Laing, N.; Olive, M.
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2019-05-0634
OAAI
Dominguez-Gonzalez, Cristina; Hernandez-Lain, Aurelio; Rivas, Eloy; Hernandez-Voth, Ana; Catalan, Javier Sayas; Fernandez-Torron, Roberto; Fuiza-Luces, Carmen; Garcia Garcia, Jorge; Moris, German; Olive, Montse; Miralles, Frances; Diaz-Manera, Jordi; Caballero, Candela; Mendez-Ferrer, Bosco; Marti, Ramon; Garcia Arumi, Elena; Carmen Badosa, Maria; Esteban, Jesus; Jimenez-Mallebrera, Cecilia; Blazquez Encinar, Alberto; Arenas, Joaquin; Hirano, Michio; Angel Martin, Miguel; Paradas, Carmen
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
NEUROLOGY
IF8.5
2018-07-2415
OA
Cabrera-Serrano, Macarena; Mavillard, Fabiola; Biancalana, Valerie; Rivas, Eloy; Morar, Bharti; Hernandez-Lain, Aurelio; Olive, Montse; Muelas, Nuria; Khan, Eduardo; Carvajal, Alejandra; Quiroga, Pablo; Diaz-Manera, Jordi; Davis, Mark; Avila, Rainiero; Dominguez, Cristina; Romero, Norma Beatriz; Vilchez, Juan J.; Comas, David; Laing, Nigel G.; Laporte, Jocelyn; Kalaydjieva, Luba; Paradas, Carmen
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2012-10-2342
OAAI
Juan-Mateu, Jonas; Jose Rodriguez, Maria; Nascimento, Andres; Jimenez-Mallebrera, Cecilia; Gonzalez-Quereda, Lidia; Rivas, Eloy; Paradas, Carmen; Madruga, Marcos; Sanchez-Ayaso, Pedro; Jou, Cristina; Gonzalez-Mera, Laura; Munell, Francina; Roig-Quilis, Manuel; Rabasa, Maria; Hernandez-Lain, Aurelio; Diaz-Manera, Jorge; Gallardo, Eduard; Pascual, Jordi; Verdura, Edgard; Colomer, Jaume; Baiget, Montserrat; Olive, Montse; Gallano, Pia

研究方向

暂未获取到该数据
C
Cristina Domínguez‐González
H 指数:27论文数:178被引数:2,517
M
Montse Olivé
H 指数:42论文数:232被引数:4,855
E
Eloy Rivas
H 指数:25论文数:146被引数:1,834
C
Carmen Paradas
H 指数:28论文数:162被引数:2,558
M
Miguel A. Martı́n
H 指数:50论文数:325被引数:9,880
N
Nigel G. Laing
H 指数:80论文数:1,233被引数:2.8万
G
Gianina Ravenscroft
H 指数:43论文数:269被引数:5,681
V
Volker Straub
H 指数:101论文数:962被引数:3.4万
M
Macarena Cabrera‐Serrano
H 指数:19论文数:78被引数:1,174
A
Ana Arteche‐López
H 指数:15论文数:50被引数:817