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B

Berta Estévez-Arias

hospital sant joan de déu
H指数:4
被引数:54

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A Recurrent 3′UTR Variant in CAPN3 Highlights the Diagnostic Impact of Non-Coding Variants in Limb-Girdle Muscular Dystrophies

CAPN3基因中一个重复的3′UTR变异突出了非编码变异在肢带型肌营养不良症中的诊断意义

Annals of Neurology
IF7.7
2026-10-220
PRE
Berta Estévez-Arias PhD; Alba Segarra-Casas PhD; Pedro Seoane PhD; Lindsay Romo MD, PhD; Kiran Polavarapu PhD; Juliette Nectoux PhD; Marta Caballero-Ávila MD; Christina Austin-Tse PhD; Marina Konyukh MD, PhD; Katharina Obeid PhD; Katrin Hinderhofer PhD; Ozge Aksel-Kilicarslan MD; Leslie Matalonga PhD; Elena Rojano PhD; Juan AG Ranea PhD; Emily O'Heir BSc; Moriel Singer-Berk MSc; Melanie O'Leary MSc; Anne O'Donnell-Luria MD, PhD; Marco Spinazzi MD, PhD; Camille Verebi PhD; France Leturcq MD; Peter Van Den Bergh MD, PhD; Sabine Specht MD; Noemí de Luna PhD; Marta de Castro MD; Jennifer Roggenbuck MSc; Laura Carrera-García MD, PhD; Jesica Expósito-Escudero MD; Cristina Jou MD, PhD; Carlos Ortez MD; Laura Llansó MD; Aurelio Hernández-Laín MD, PhD; Volker Straub MD, PhD; Pia Gallano PhD; Andrés Nascimento MD, PhD; Teresinha Evangelista MD; Montse Olivé MD, PhD; Cristina Domínguez-González MD, PhD; Hanns Lochmüller MD, PhD; Edoardo Malfatti MD, PhD; Ana Töpf PhD; Eduard Gallardo PhD; Lidia González-Quereda PhD; Daniel Natera-de Benito MD, PhD
Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome

CHRND相关先天性肌无力综合征的临床变异性和基因型驱动的结局

European Journal of Neurology
IF3.9
2026-09-040
OAAI
David Muhmann; Göknur Haliloğlu; Maria Antonia Grimalt; Damjan Osredkar; Ana Vesperinas Castro; Silvia Cerezo Corredera; Angela Abicht; Adalet Elçin Yıldız; Johann Böhm; Ulrike Schara-Schmidt; Anja Troha Gergeli; Berta Estevez-Arias; Elena Cortes Vicente; Andres Nascimento; Adela Della Marina; Daniel Natera-de Benito; Andreas Roos
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G

扩展COL6相关疾病的表型谱：COL6A3 c.7447A>G相关的运动神经病变样及神经肌病

Journal of Neuromuscular Diseases
IF3.4
2026-07-280
PRE
Rocio Nur Villar-Quiles; A. Reghan Foley; Corinne Metay; Rotem Orbach; Sandra Donkervoort; Beatrice Labella; Daniel Natera-de Benito; Andres Nascimento; Berta Estevez-Arias; Cecilia Jimenez-Mallebrera; Carlos Ortez; Cristina Domínguez-González; Alejandro Horga; Maria Itxaso Marti Carrera; Roberto Fernandez Torron; Sergei Kurbatov; Paulina Chausova; Aysylu Murtazina; Dmitrii Subbotin; Anna Kuchina; Rodrigo Frezzati; Alzira Carvalho; Anne Waschbisch; Valerie Allamand; Yaqun Zou; Pascale Richard; Carsten G Bönnemann; Tanya Stojkovic
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders

超越远端关节挛缩症：精炼PIEZO2相关疾病的表型景观

Brain
IF11.7
2026-07-240
OAAI
Giuliana Capece; Maria Francesca Di Feo; Evgeniya Melnik; Elena Dadali; Tatiana Markova; Alain Verloes; Federica Ruscitti; Jonathan Lévy; Daniel Natera-de Benito; Carlos Ortez; Andres Nascimiento; Berta Estevez-Arias; Cristina Jou; Sergei Kurbatov; Aysylu Murtazina; Artem Sharkov; Nour Elkhateeb; Walaa ElNaggar; Flavio Faletra; Catia Mio; Jennifer Schymick; Paige Calvert; Yasemin Alanay; Esra Isik; Berkay Yıldız; Somayeh Bakhtiari; Michael C Kruer; Andreas Roos; Heike Kölbel; Hossein Darvish; Shohreh Vosoogh; Eliane Chouery; Cybel Mehawej; André Mégarbané; J Andoni Urtizberea; Henriette V F Senghor; Moustapha Ndiaye; Pedro M Rodriguez Cruz; Luca Bello; Elena Pegoraro; Bjarne Udd; Marco Savarese
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder

DOT1L的缺失破坏了神经元转录，并导致神经发育障碍

BRAIN
IF11.7
2025-12-010
PRE
Maroni, Marissa J.; Barton, Melissa; Lynch, Katherine; Deshwar, Ashish R.; Campbell, Philip D.; Millard, Josephine; Lee, Rachel; Cohen, Annastelle; Ahmad, Rili; Paranjapye, Alekh; Faundes, Victor; Repetto, Gabriela M.; McKenna, Caoimhe; Shillington, Amelle L.; Phornphutkul, Chanika; Hove, Hanne B.; Mancini, Grazia M. S.; Schot, Rachel; Barakat, Tahsin Stefan; Richmond, Christopher M.; Lauzon, Julie; Ibrahim, Ahmed Ibrahim Elsayed; Nava, Caroline; Heron, Delphine; van Aalst, Minke M. A.; Atemin, Slavena; Sleptsova, Mila; Aleksandrova, Iliyana; Todorova, Albena; Watkins, Debra L.; Kozenko, Mariya A.; Natera-de Benito, Daniel; Ortez, Carlos; Estevez-Arias, Berta; Lecoquierre, Francois; Cassinari, Kevin; Guerrot, Anne-Marie; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Innes, A. Micheil; Yang, Xiao-Ru; Banka, Siddharth; Vill, Katharina; Jacob, Maureen; Kruer, Michael; Skidmore, Peter; Galaz-Montoya, Carolina, I; Bakhtiari, Somayeh; Mester, Jessica L.; Granato, Michael; Armache, Karim-Jean; Costain, Gregory; Korb, Erica
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
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
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
PEDIATRIC NEUROLOGY
IF2.1
2024-08-010
PRE
Natera-deBenito, Daniel; Pugliese, Alessia; Polavarapu, Kiran; Guergueltcheva, Velina; Tournev, Ivailo; Todorova, Albena; Ribeiro, Joana Afonso; Fernandez-Mayoralas, Daniel M.; Ortez, Carlos; Martorell, Loreto; Estevez-Arias, Berta; Matalonga, Leslie; Laurie, Steven; Jou, Cristina; Lau, Jarred; Thompson, Rachel; Shen, Xinming; Engel, Andrew G.; Nascimento, Andres; Lochmuller, Hanns; Selcen, Duygu
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
JOURNAL OF MEDICAL GENETICS
IF3.7
2023-05-169
OAAI
Justel, Maria; Jou, Cristina; Sariego-Jamardo, Andrea; Alexandra Julia-Palacios, Natalia; Ortez, Carlos; Luisa Poch, Maria; Hedrera-Fernandez, Antonio; Gomez-Martin, Hilario; Codina, Anna; Dominguez-Carral, Jana; Muxart, Jordi; Hernandez-Lain, Aurelio; Vila-Bedmar, Sara; Zulaica, Miren; Cancho-Candela, Ramon; del Carmen Castro, Margarita; de la Osa-langreo, Alberto; Pena-Valenceja, Alfonso; Marcos-Vadillo, Elena; Prieto-Matos, Pablo; Ignacio Pascual-Pascual, Samuel; Lopez de Munain, Adolfo; Camacho, Ana; Estevez-Arias, Berta; Musokhranova, Uliana; Olivella, Mireia; Oyarzabal, Alfonso; Jimenez-Mallebrera, Cecilia; Dominguez-Gonzalez, Cristina; Nascimento, Andres; Garcia-Cazorla, Angels; Natera-de Benito, Daniel

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
C
C. Ortez
H 指数:28论文数:206被引数:3,016
A
A. Nascimento
H 指数:39论文数:275被引数:4,948
L
Laura Carrera‐García
H 指数:14论文数:78被引数:664
C
Cristina Jou
H 指数:28论文数:163被引数:2,365
J
J. Expósito
H 指数:14论文数:82被引数:577
D
Dèlia Yubero
H 指数:19论文数:78被引数:1,136
A
Anna Codina
H 指数:21论文数:125被引数:6,707
H
Hanns Lochmüller
H 指数:100论文数:1,567被引数:3.8万
L
Leslie Matalonga
H 指数:21论文数:83被引数:1,268