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J

J. Expósito

Hospital Sant Joan de Déu
H指数:14
被引数:577

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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Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

DARS2基因的biallelic变异作为轴索型Charcot–Marie–Tooth病的全新病因

Annals of Neurology
IF7.7
2025-08-150
OAAI
Berta Estévez-Arias MSc; Siiri Sarv MSc; Nathalie Bonello-Palot PhD; Laura Carrera-García MD; Carlos Ortez MD; Jesica Expósito-Escudero MD; Delia Yubero PhD; Jordi Muchart MD; Emilien Delmont MD; Eve Õiglane-Shlik MD, PhD; Teele Meren MD; Sanna Puusepp MD, PhD; Ülle Murumets MD; Gajja S. Salomons PhD; Bjarne Udd MD, PhD; Liis Väli MD, PhD; Lara Cantarero PhD; Carsten G. Bönnemann MD; Andrés Nascimento MD, PhD; Santiago Ramón-Maiques PhD; Katrin Õunap MD, PhD; Janet Hoenicka PhD; Daniel Natera-de Benito MD, PhD; Francesc Palau MD, PhD
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project

西班牙脊髓性肌萎缩症的真实世界数据：来自CuidAME项目超过500名个体的见解

Journal of Neuromuscular Diseases
IF3.4
2025-07-280
PRE
Cristina Puig-Ram; Sonia Segovia; Rocio Garcia-Uzquiano; Nancy Carolina Ñungo Garzón; Karolina Aragon-Gawinska; Mar García Romero; Jesica María Expósito-Escudero; Laura Carrera-García; Mercedes López-Lobato; Carmen Paradas; Laura González Mera; Mireia Álvarez Molinero; David Gómez Andrés; Esther Toro; Joaquín Alejandro Fernández Ramos; Maria Antonia Grimalt; Laura Toledo Bravo de Laguna; Desire González Barrios; Eduardo F Tizzano; Maria Grazia Cattinari; Julita Medina; Rocío Calvo Medina; Francina Munell; Javier Sotoca; Eduardo Martínez-Salcedo; Antonio Moreno Escribano; Mónica Povedano Panadés; Miguel A. Fernández-García; Inmaculada Pitarch-Castellano; Juan F. Vázquez-Costa; Daniel Natera-de Benito; Andres Nascimento
Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies

2型脊髓性肌萎缩症患者上肢运动功能：自然病史及疗法影响

JOURNAL OF NEUROLOGY
IF4.6
2025-04-090
PRE
Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Garzon, Nancy Carolina Nungo; Pareja, Ana; Fernandez-Garcia, Miguel A.; Ortez, Carlos; Medina, Julita; Martinez-Salcedo, Eduardo; Urbano, Mario; Grimalt, Maria Antonia; Munell, Francina; Garcia-Campos, Oscar; Roca, Sandra; Moya, Obdulia; Estevez-Arias, Berta; Balsells, Sol; Frongia, Anna Lia; Borras, Ariadna; Puig-Ram, Cristina; Garcia Romero, Mar; Calvo, Rocio; Lopez-Lobato, Mercedes; Pitarch-Castellano, Inmaculada; Natera-de Benito, Daniel; Nascimento, Andres
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases (27 Sept, 10.1038/s41431-024-01699-4, 2024)
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-12-100
PRE
Estevez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-Garcia, Laura; Exposito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknarova, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yepez, Vicente A.; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmueller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Benito, Daniel Natera-de
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-09-272
PRE
Estevez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-Garcia, Laura; Exposito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknarova, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yepez, Vicente A.; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmueller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Natera-de Benito, Daniel
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen

细胞外囊泡中的全长SMN转录本作为Nusinersen治疗的2型脊髓性肌萎缩症患者的生物标志物

JOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
2023-04-057
OAAI
Trifunov, Selena; Natera-de Benito, Daniel; Carrera-Garcia, Laura; Codina, Anna; Exposito-Escudero, Jesica; Ortez, Carlos; Medina, Julita; Torres Alcala, Soraya; Bernal, Sara; Alias, Laura; Badosa, Carmen; Balsells, Sol; Alcolea, Daniel; Nascimento, Andres; Jimenez-Mallebrera, Cecilia
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
ACTA NEUROPATHOLOGICA
IF9.3
2023-02-172
PRE
Nascimento, Andres; Bruels, Christine C.; Donkervoort, Sandra; Foley, A. Reghan; Codina, Anna; Milisenda, Jose C.; Estrella, Elicia A.; Li, Chengcheng; Pijuan, Jordi; Draper, Isabelle; Hu, Ying; Stafki, Seth A.; Pais, Lynn S.; Ganesh, Vijay S.; O'Donnell-Luria, Anne; Syeda, Safoora B.; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Yubero, Delia; Martorell, Loreto; Pinal-Fernandez, Iago; Lidov, Hart G. W.; Mammen, Andrew L.; Grau-Junyent, Josep M.; Ortez, Carlos; Palau, Francesc; Ghosh, Partha S.; Darras, Basil T.; Jou, Cristina; Kunkel, Louis M.; Hoenicka, Janet; Bonnemann, Carsten G.; Kang, Peter B.; Natera-de Benito, Daniel
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies
NEUROLOGY
IF8.5
2021-03-0912
OA
Natera-de Benito, Daniel; Foley, A. Reghan; Dominguez-Gonzalez, Cristina; Ortez, Carlos; Jain, Minal; Mebrahtu, Aron; Donkervoort, Sandra; Hu, Ying; Fink, Margaret; Yun, Pomi; Ogata, Tracy; Medina, Julita; Vigo, Meritxell; Meilleur, Katherine G.; Leach, Meganne E.; Dastgir, Jahannaz; Diaz-Manera, Jordi; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Alarcon, Macarena; Cuadras, Daniel; Montiel-Morillo, Elena; Milisenda, Jose C.; Dominguez-Rubio, Raul; Olive, Montse; Colomer, Jaume; Jou, Cristina; Jimenez-Mallebrera, Cecilia; Bonnemann, Carsten G.; Nascimento, Andres
Clinical Variability in Spinal Muscular Atrophy TypeIII

Ii型脊髓性肌萎缩症的临床变异性

ANNALS OF NEUROLOGY
IF7.7
2020-10-0242
PREAI
Coratti, Giorgia; Messina, Sonia; Lucibello, Simona; Pera, Maria Carmela; Montes, Jacqueline; Pasternak, Amy; Bovis, Francesca; Exposito Escudero, Jessica; Mazzone, Elena Stacy; Mayhew, Anna; Glanzman, Allan M.; Young, Sally Dunaway; Salazar, Rachel; Duong, Tina; Muni Lofra, Robert; De Sanctis, Roberto; Carnicella, Sara; Milev, Evelin; Civitello, Matthew; Pane, Marika; Scoto, Mariacristina; Bettolo, Chiara Marini; Antonaci, Laura; Frongia, Annalia; Sframeli, Maria; Vita, Gian Luca; D'Amico, Adele; Van den Hauwe, Marleen; Albamonte, Emilio; Goemans, Nathalie; Darras, Basil T.; Bertini, Enrico; Sansone, Valeria; Day, John; Nascimento Osorio, Andres; Bruno, Claudio; Muntoni, Francesco; De Vivo, Darryl C.; Finkel, Richard S.; Mercuri, Eugenio
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization
EPILEPSIA
IF6.6
2020-04-0817
PREAI
Natera-de Benito, Daniel; Muchart, Jordi; Itzep, Debora; Ortez, Carlos; Gonzalez-Quereda, Lidia; Gallano, Pia; Ramirez, Alia; Aparicio, Javier; Dominguez-Carral, Jana; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Pardo Cardozo, Nathalia; Cuadras, Daniel; Codina, Anna; Jou, Cristina; Jimenez-Mallebrera, Cecilia; Palau, Francesc; Colomer, Jaume; Arzimanoglou, Alexis; Nascimento, Andres; San Antonio-Arce, Victoria

研究方向

暂未获取到该数据
D
Daniel Natera‐de Benito
H 指数:22论文数:191被引数:1,769
L
Laura Carrera‐García
H 指数:14论文数:78被引数:664
A
A. Nascimento
H 指数:39论文数:275被引数:4,948
C
C. Ortez
H 指数:28论文数:206被引数:3,016
F
Francesc Palau
H 指数:48论文数:284被引数:1.0万
C
Cristina Jou
H 指数:28论文数:163被引数:2,365
J
Janet Hoenicka
H 指数:38论文数:137被引数:1.0万
A
Anna Codina
H 指数:21论文数:125被引数:6,707
D
Dèlia Yubero
H 指数:19论文数:78被引数:1,136
B
Berta Estévez‐Arias
H 指数:4论文数:29被引数:54