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A

Anna Marcé-Grau

vall d'hebron university hospital
H指数:21
被引数:1,163

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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Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants

扩展DYT-VPS16的遗传和表型谱：剪接位点变异的重要性

Movement Disorders
IF7.6
2025-11-070
OAAI
Ana Westenberger; Edgard Verdura; Mandy Radefeldt; Leslie E. Sanderson; Kornelia Tripolszki; Anna Marcé-Grau; Ana Cazurro-Gutiérrez; Anita Nikoncuk; Rebecca Herzog; Ruslan Al-Ali; Mariana Ferreira; Ligia S. Almeida; Tainá Regina Damaceno Silveira; Suliman Khan; Raphael Doyle Maia; Péter Klivényi; András Salamon; Volkan Baltaci; Asli Subasioglu; Jeanette Prada-Arismendy; Goran Čuturilo; Sebastian Loens; Vera Tadic; Isabelle Maystadt; Deniz Karadurmus; Barbara Leube; Jonathan De Winter; Alice Monticelli; Liesbeth De Waele; Jonathan Baets; Mateja Vinkšel; Aleš Maver; Lorena Tschopp; Gabriela Ziegler; Ana Sanguinetti; Katja Lohmann; Tahsin Stefan Barakat; Peter Bauer; Belén Perez-Dueñas; Aida M. Bertoli-Avella
Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life

儿童和青少年ε- sarcoglycan 肌阵挛性肌张力障碍的深部脑刺激可导致运动功能和生命质量的持续改善

Movement Disorders
IF7.6
2025-08-010
OAAI
Ainara Salazar-Villacorta MD; Ana Cazurro-Gutiérrez MSc; Lucy Dougherty-de Miguel MD; Julia Ferrero-Turrión MD; Anna Marcé-Grau PhD; Marta Folch-Benito MD; Álvaro Lucero-Garófano MSc; Alfons Macaya MD, PhD; Antonio Moreno-Galdó MD, PhD; Maria I. Vanegas MD, PhD; Marta Correa-Vela MD, PhD; María Victoria González MD, PhD; Gemma Español-Martín MD; Martha Loredo; Ignacio Delgado MD; Esther Toro-Tamargo MD; Margarita Figueroa MD; Dolores Vilas MD, PhD; Manel Tardáguila MD; Jorge Muñoz MD; Lourdes Ispierto MD, PhD; Ramiro Álvarez MD; Agustí Bescós MD, PhD; Belén Pérez-Dueñas MD, PhD
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy

解析DST相关疾病：影响DST-b的双等位基因变异导致先天性肌病

Brain
IF11.7
2025-06-110
PRE
Maureen Jacob; Heike Kölbel; Philip Harrer; Robert Kopajtich; Pinki Munot; Melanie T Achleitner; Susann Badmann; Melanie Brugger; Theresa Brunet; Gisèle Bonne; Marta Codina; Laura Ebner; Peyman Eshraghi; Katharina Eyring; Ahmad Shah Farhat; René G Feichtinger; Elisabeth Graf; Anna Marcé-Grau; Andreas Hahn; Henry Houlden; Ehsan Ghayoor Karimiani; Véronique Manel; Katharina Mayerhanser; Juliette Nectoux; Isabelle Nelson; Rahul Phadke; Holger Prokisch; Saeid Sadeghian; Alice Saparov; Anne Schänzer; Ulrike Schara-Schmidt; Julia Schmidt; Rahel Schuler; Caroline Sewry; Gholamreza Shariati; Silke Slanz; Dmitrii Smirnov; Rivka Sukenik-Halevy; Homa Tajsharghi; Mehran Beiraghi Toosi; Laura Trujillano; Joachim Weis; Louise C Wilson; Rabah Ben Yaou; Mina Zamani; Michael Zech; Jana Zschüntzsch; Uwe Kornak; David Goméz-Andrés; Reza Maroofian; Juliane Winkelmann; Andreas Roos; Felix Distelmaier; Johannes A Mayr; Matias Wagner
De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy
EPILEPSIA
IF6.6
2022-12-059
OAAI
Salpietro, Vincenzo; Deforie, Valentina Galassi; Efthymiou, Stephanie; O'Connor, Emer; Marce-Grau, Anna; Maroofian, Reza; Striano, Pasquale; Zara, Federico; Morrow, Michelle M.; Reich, Adi; Blevins, Amy; Sala-Coromina, Julia; Accogli, Andrea; Fortuna, Sara; Alesandrini, Marie; Au, P. Y. Billie; Singhal, Nilika Shah; Cogne, Benjamin; Isidor, Bertrand; Hanna, Michael G.; Macaya, Alfons; Kullmann, Dimitri M.; Houlden, Henry; Mannikko, Roope
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders

复杂的儿童期发作的多动性运动障碍的遗传景观

MOVEMENT DISORDERS
IF7.6
2022-08-2511
OA
Perez-Duenas, Belen; Gorman, Kathleen; Marce-Grau, Anna; Ortigoza-Escobar, Juan D.; Macaya, Alfons; Danti, Federica R.; Barwick, Katy; Papandreou, Apostolos; Ng, Joanne; Meyer, Esther; Mohammad, Shekeeb S.; Smith, Martin; Muntoni, Francesco; Munot, Pinki; Uusimaa, Johanna; Vieira, Paivi; Sheridan, Eammon; Guerrini, Renzo; Cobben, Jan; Yilmaz, Sanem; De Grandis, Elisa; Dale, Russell C.; Pons, Roser; Peall, Kathryn J.; Leuzzi, Vincenzo; Kurian, Manju A.
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
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome
PARKINSONISM & RELATED DISORDERS
IF3.4
2020-11-019
PREAI
Vanegas, Maria, I; Marce-Grau, Anna; Marti-Sanchez, Laura; Mellid, Sara; Baide-Mairena, Heidy; Correa-Vela, Marta; Cazurro, Anna; Rodriguez, Carla; Toledo, Laura; Fernandez-Ramos, Joaquin Alejandro; Pons, Roser; Aguilera-Albesa, Sergio; Marti, Maria Jose; Eiris, Jesus; Iglesias, Gema; De Fabregues, Oriol; Maqueda, Elena; Garriz-Luis, Maite; Madruga, Marcos; Espinos, Carmen; Macaya, Alfons; Cabrera, Jose Carlos; Perez-Duenas, Belen
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2020-08-0624
OAAI
Correa-Vela, Marta; Lupo, Vincenzo; Montpeyo, Marta; Sancho, Paula; Marce-Grau, Anna; Hernandez-Vara, Jorge; Darling, Alejandra; Jenkins, Alison; Fernandez-Rodriguez, Sandra; Tello, Cristina; Ramirez-Jimenez, Laura; Perez, Belen; Sanchez-Montanez, Angel; Macaya, Alfons; Sobrido, Maria J.; Martinez-Vicente, Marta; Perez-Duenas, Belen; Espinos, Carmen
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

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
B
Belén Pérez‐Dueñas
H 指数:44论文数:189被引数:5,738
A
Ana Cazurro‐Gutiérrez
H 指数:6论文数:17被引数:110
M
Marta Correa‐Vela
H 指数:9论文数:14被引数:227
M
Maria Vanegas
H 指数:10论文数:27被引数:306
H
Heidy Baide‐Mairena
H 指数:6论文数:15被引数:269
A
Antonio Moreno
H 指数:27论文数:278被引数:2,963
M
Miquel Raspall‐Chaure
H 指数:23论文数:76被引数:2,763
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.4万
D
David Gómez‐Andrés
H 指数:21论文数:118被引数:1,868