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D

David Gómez-Andrés

Hospital Regional Universitario de Malaga
H指数:21
被引数:1,868

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Delphy study on epidemiology, clinical management, disease burden, and treatment in paediatric patients with Duchenne muscular dystrophy in Spain

西班牙 Duchenne 肌营养不良症儿科患者的流行病学、临床管理、疾病负担和治疗 Delphi 研究

Neurologia
IF3.1
2026-07-010
OAAI
Pitarch-Castellano, I.; Ortez-Gonzalez, C. I.; Nascimento-Osorio, A.; Lopez, P. Aguilera; Barca, M. O. Blanco; Camacho-Salas, A.; Garcia-Campos, O.; Garcia-Jimenez, M. C.; Garcia-Romero, M.; Gomez-Andres, D.; Grimalt-Calatayud, M. A.; Hernandez-Fabian, A.; Malaga-Dieguez, I.; Madruga-Garrido, M.; Marti-Carrera, I.; Martin-Viota, L.; Martinez-Garcia, M. J.; Ramos-Fernandez, J. M.; Abad, R. Sanchez-Carpintero; Vazquez-Martin, S.; Giro-Perafita, A.
Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2025-12-010
OAAI
Costa-comellas, Laura; Monforte, Mauro; Sanchez-montanez, Angel; Romero-duque, Penelope; Pegoraro, Elena; Diaz-manera, Jordi; Vlodavets, Dmitry; Maggi, Lorenzo; Moscatelli, Marco; Damico, Adele; Olive, Montse; Alonso-perez, Jorge; Comi, Giacomo; Escudero-fernandez, Jose Miguel; Urcuyo, Gabriela S.; Pichiecchio, Anna; Berardinelli, Angela; Claeys, Kristl G.; Bruno, Claudio; Panicucci, Chiara; Bortolani, Sara; Torchia, Eleonora; Ricci, Enzo; Monges, Soledad; Bevilacqua, Jorge A.; Diaz-jara, Jorge; Walter, Maggie C.; Thiele, Simone; Lokken, Nicoline; Vissing, John; Quijano-roy, Susana; Carlier, Robert Y.; Voermans, Nicol C.; Marini-bettolo, Chiara; Guglieri, Michela; Straub, Volker; Leonardis, Lea; Munell, Francina; Gomez-andres, David; Tasca, Giorgio
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATP酶亚基基因PSMC5在神经发育性蛋白酶体病理学中的神经元作用

Nature Communications
IF15.7
2025-11-260
OA
Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

PRKAR1B相关Marbach–Schaaf神经发育综合征表型和基因型谱的扩展：一项病例系列研究

Clinical Genetics
IF2.3
2025-10-290
OAAI
Sebastian Burkart; Tarik Guzeloglu; Ana R. Soares; Irene Valenzuela; Eduardo F. Tizzano; David Gómez-Andres; Laurent Pasquier; Marine Legendre; Camille Berges; Julien Thevenon; Marjolaine Gauthier; Caleb Heid; Elly Ranum; Joseph Shen; Michelle Frees; Michael W. Schmidtke; Caro Pilar; Christian P. Schaaf
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
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
OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development (vol 15, 5, 2025)

OBSCN在人类心脏和骨骼肌发育过程中经历广泛的替代性剪接（vol 15, 5, 2025）

SKELETAL MUSCLE
IF4.4
2025-04-070
OA
Oghabian, Ali; Jonson, Per Harald; Gayathri, Swethaa Natraj; Johari, Mridul; Nippala, Ella; Andres, David Gomez; Munell, Francina; Soriano, Jessica Camacho; Duran, Maria Angeles Sanchez; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Hackman, Peter; Savarese, Marco; Udd, Bjarne
Inferring disease course from differential exon usage in the wide titinopathy spectrum
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2024-08-281
OA
Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Andres, David Gomez; Brady, Angela F.; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; De Benito, Daniel Natera; Osorio, Andres Nascimiento; Arias, Berta Estevez; Kurbatov, Sergei A.; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Soriano, Jessica Camacho; Duran, Maria Angeles Sanchez; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco
Developmental epileptic encephalopathy in DLG4-related synaptopathy

DLG4-related突触病的发展性癫痫脑病

EPILEPSIA
IF6.6
2024-02-291
OA
Kassabian, Benedetta; Levy, Amanda M.; Gardella, Elena; Aledo-Serrano, Angel; Ananth, Amitha L.; Brea-Fernandez, Alejandro J.; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; De Wachter, Matthias; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Fazzi, Elisa; Felt, Roxanne; Fernandez-Jaen, Alberto; Fernandez-Prieto, Montse; Gantz, Emily; Gasperowicz, Piotr; Gil-Nagel, Antonio; Gomez-Andres, David; Greiner, Hansel M.; Guerrini, Renzo; Haanpaeae, Maria K.; Helin, Minttu; Hoyer, Juliane; Hurst, Anna C. E.; Kallish, Staci; Karkare, Shefali N.; Khan, Amjad; Kleinendorst, Lotte; Koch, Johannes; Kothare, Sanjeev V.; Koudijs, Suzanna M.; Lagae, Lieven; Lakeman, Phillis; Leppig, Kathleen A.; Lesca, Gaetan; Lopergolo, Diego; Lusk, Laina; Mackenzie, Alex; Mei, Davide; Moller, Rikke S.; Pereira, Elaine M.; Platzer, Konrad; Quelin, Chloe; Revah-Politi, Anya; Rheims, Sylvain; Rodriguez-Palmero, Agusti; Rossi, Andrea; Santorelli, Filippo; Seinfeld, Syndi; Sell, Erick; Stephenson, Donna; Szczaluba, Krzysztof; Trinka, Eugen; Umair, Muhammad; Van Esch, Hilde; van Haelst, Mieke M.; Veenma, Danielle C. M.; Weber, Sacha; Weckhuysen, Sarah; Zacher, Pia; Tuemer, Zeynep; Rubboli, Guido
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease
MED
IF11.8
2023-12-013
OA
Carmody, Leigh C.; Gargano, Michael A.; Toro, Sabrina; Vasilevsky, Nicole A.; Adam, Margaret P.; Blau, Hannah; Chan, Lauren E.; Gomez-Andres, David; Horvath, Rita; Kraus, Megan L.; Ladewig, Markus S.; Lewis-Smith, David; Lochmueller, Hanns; Matentzoglu, Nicolas A.; Munoz-Torres, Monica C.; Schuetz, Catharina; Seitz, Berthold; Similuk, Morgan N.; Sparks, Teresa N.; Strauss, Timmy; Swietlik, Emilia M.; Thompson, Rachel; Zhang, Xingmin Aaron; Mungall, Christopher J.; Haendel, Melissa A.; Robinson, Peter N.
Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum

沿非流利变异原发性进行性失语症谱的临床维度

BRAIN
IF11.7
2023-11-213
OAAI
Illan-Gala, Ignacio; Lorca-Puls, Diego L.; Tee, Boon Lead; Ezzes, Zoe; de Leon, Jessica; Miller, Zachary A.; Rubio-Guerra, Sara; Santos-Santos, Miguel; Gomez-Andres, David; Grinberg, Lea T.; Spina, Salvatore; Kramer, Joel H.; Wauters, Lisa D.; Henry, Maya L.; Boxer, Adam L.; Rosen, Howard J.; Miller, Bruce L.; Seeley, William W.; Mandelli, Maria Luisa; Gorno-Tempini, Maria Luisa

研究方向

暂未获取到该数据
F
Francina Munell
H 指数:29论文数:132被引数:3,166
H
Hanns Lochmüller
H 指数:100论文数:1,567被引数:3.8万
E
Eduardo F. Tizzano
H 指数:41论文数:259被引数:9,336
P
Peter N. Robinson
H 指数:90论文数:798被引数:3.4万
G
Gisèle Bonne
H 指数:70论文数:1,013被引数:1.8万
R
Rachel Thompson
H 指数:26论文数:82被引数:3,601
L
Leigh Carmody
H 指数:26论文数:92被引数:4,303
R
Rabah Ben Yaou
H 指数:35论文数:702被引数:5,193
C
Cecilia García
H 指数:17论文数:140被引数:987
R
Rita Horváth
H 指数:79论文数:636被引数:2.1万