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A

Ana Cazurro-Gutiérrez

Vall d Hebron Research Institute
H指数:6
被引数:110

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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
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

ZNF142基因的双等位基因失活变异与一种强烈的DNA甲基化特征相关，该特征影响有限的基因组位点。

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2025-05-230
PRE
Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J.; Barakat, Tahsin Stefan; Benoit, Valerie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutierrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gomez-Puertas, Paulino; Hammer, Trine Bjorg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Inigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A.; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tumer, Zeynep; Tartaglia, Marco

研究方向

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B
Belén Pérez‐Dueñas
H 指数:44论文数:189被引数:5,738
A
Anna Marcé‐Grau
H 指数:21论文数:52被引数:1,163
A
Antonio Moreno
H 指数:27论文数:278被引数:2,963
D
David Gómez‐Andrés
H 指数:21论文数:118被引数:1,868
E
Edgard Verdura
H 指数:17论文数:45被引数:1,124
G
Gemma Español‐Martín
H 指数:10论文数:33被引数:516
E
Elze R. Timmers
H 指数:5论文数:17被引数:118
M
Maria Vanegas
H 指数:10论文数:27被引数:306
A
Alfons Macaya‐Ruiz
H 指数:5论文数:11被引数:65
J
Julia Ferrero‐Turrión
H 指数:2论文数:6被引数:16