Andres Nascimento - Centre for Biomedical Research on Rare Diseases (CIBERER),, Instituto de Salud Carlos III

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Papers共 133 篇Author StatisticsCo-AuthorSimilar Experts

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Blood Biomarker Fingerprints in a Cohort of Patients with CHRNE-related Congenital Myasthenic Syndrome

Adela Della Marina,Andrie Koutsoulidou,Daniel Natera-de Benito,Lars-Oliver Tykocinski,Marios Tomazou, Kristia Georgiou,Andreas Laner,Heike Kölbel,Andres Nascimento,Carlos Ortez, Angela Abicht,Basant Kumar Thakur,Hanns Lochmüller,Leonidas A. Phylactou,Tobias Ruck,Ulrike Schara-Schmidt, Dipali Kale,Andreas Hentschel,Andreas Roos

Acta Neuropathologica Communicationsno. 1 (2025): 1-20

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Characterization of Severe COL6-related Dystrophy Due to the Recurrent Variant COL6A1 C.930+189c>t

A Reghan Foley, Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach, Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini, Giacomo Comi, Monique Ryan,Denise McDonald, Pinki Munot,Grace Yoon, Edward Leung,Erika Finanger, Meganne E Leach, James Collins,Cuixia Tian,Payam Mohassel, Sarah B Neuhaus,Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu,Mena Scavina,Carla Grosmann,Randal Richardson, Brian D Kossak, Sidney M Gospe,Vikram Bhise, Gita Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata, Sophelia H S Chan,Manu Jokela,Johanna Palmio,Göknur Haliloğlu,Cristina Jou,Corine Gartioux,Herimela Solomon-Degefa, Carolin D Freiburg,Alvise Schiavinato,Haiyan Zhou, Sara Aguti, Yoram Nevo,Ichizo Nishino, Cecilia Jimenez-Mallebrera,Shireen R Lamandé, Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni, Carsten G Bönnemann

Brain a journal of neurology (2025)

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Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Florencia Pérez-Vidarte, Berta Estévez-Arias,Leslie Matalonga,Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo,Laura Carrera-García, Jesica Expósito-Escudero,Cristina Jou, Eduardo F Tizzano,Andres Nascimento,Daniel Natera-de Benito

Annals of clinical and translational neurology (2025)

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Upper Limb Motor Function in Individuals with SMA Type 2: Natural History and Impact of Therapies

Laura Carrera-García, Jessica Expósito-Escudero, Nancy Carolina Ñungo Garzón, Ana Pareja, Miguel A. Fernández-García, Carlos Ortez,Julita Medina, Eduardo Martínez-Salcedo, Mario Urbano, Maria Antonia Grimalt, Francina Munell,Óscar García-Campos, Sandra Roca, Obdulia Moya, Berta Estévez-Arias, Sol Balsells, Anna Lia Frongia, Ariadna Borràs, Cristina Puig-Ram, Mar García Romero, Rocío Calvo, Mercedes López-Lobato, Inmaculada Pitarch-Castellano,Daniel Natera-de Benito,Andres Nascimento

Journal of Neurologyno. 5 (2025): 1-9

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Irene Madrigal, Cristina Villar-Vera, Gemma Arca, Jesica Expósito-Escudero,Laia Rodríguez-Revenga, Andres Piolatti-Luna,Nuria Muelas, Roger Vilchez, Maria Ciutad Celdran, Anna Codina, Berta Estévez-Arias,Laura Carrera-Garcia, Carlos Ortez, Leonardo Rodriguez-Carunchio, Giorgia Sebastiani,Inmaculada Azorin,Andrés Nascimento,Cristina Jou, Juan Jesus Vilchez,Daniel Natera-de Benito

Neuropathology and applied neurobiologyno. 3 (2025): e70025-e70025

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Translating Muscle RNAseq into the Clinic for the Diagnosis of Muscle Diseases

Alba Segarra-Casas, Cristina Domínguez-González,Daniel Natera-de Benito, Solange Kapetanovic,Aurelio Hernández-Laín, Berta Estévez-Arias, Laura Llansó, Carlos Ortez,Cristina Jou, Itxaso Martí-Carrera, Arístides López-Márquez, Maria José Rodríguez, Laura González-Mera, Velina Nedkova,Roberto Fernández-Torrón,Benjamín Rodríguez-Santiago, Cecília Jimenez-Mallebrera,Raul Juntas-Morales,Adolfo López-de Munain, Jordi Surrallés,Andrés Nascimento, Eduard Gallardo,Montse Olivé, Pia Gallano,Lidia González-Quereda

Annals of clinical and translational neurology (2025)

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Effects of HMG CoA Reductase (HMGCR) Deficiency on Skeletal Muscle Development

Mekala Gunasekaran,Hannah R. Littel, Natalya M. Wells,Johnnie Turner, Gloriana Campos, Sree Venigalla,Elicia A. Estrella,Partha S. Ghosh,Audrey L. Daugherty,Seth A. Stafki, Louis M. Kunkel,A. Reghan Foley,Sandra Donkervoort,Carsten G. Bonnemann, Laura Toledo-Bravo de Laguna,Andres Nascimento,Daniel Natera-de Benito,Isabelle Draper,Christine C. Bruels,Christina A. Pacak,Peter B. Kang

FEBS JOURNAL (2025)

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Clinical Response of Levodopa in CTNNB1-Related Dystonia

Anna Revert Barbera,Loreto Martorell, Cristina Boix,Judith Armstrong,Laura Carrera,Andres Nascimento,Juan Dario Ortigoza-Escobar

Journal of Pediatric Neurology (2024)

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The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,James Collins,Cuixia Tian,Payam Mohassel,Sarah B Neuhaus,Dimah Saade,Benjamin T Cocanougher, Mary-Lynn Chu,Mena Scavina,Carla Grosmann,Randal Richardson, Brian D Kossak,Sidney M Gospe,Vikram Bhise,Gita Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata,Sophelia H S Chan,Manu Jokela,Johanna Palmio,Göknur Haliloğlu,Cristina Jou,Corine Gartioux,Herimela Solomon-Degefa,Carolin D Freiburg,Alvise Schiavinato,Haiyan Zhou,Sara Aguti,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

medRxiv : the preprint server for health sciences（2024）

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Epilepsy in Duchenne and Becker Muscular Dystrophies

Jesus Alfonso Armijo Gomez,Miguel A. Fernandez-Garcia,Ana Camacho, Marlin Liz,Carlos Ortez, Miguel Lafuente-Hidalgo, Laura Toledo Bravo-de Laguna,Berta Estevez-Arias,Laura Carrera-Garcia,Jessica Exposito-Escudero,Jana Dominguez-Carral,Andres Nascimento,Daniel Natera-de Benito

Annals of Clinical and Translational Neurology（2024）

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