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

基本信息

浏览量：0

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 128 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

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)

引用0浏览0引用

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）

引用0浏览0WOS引用

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）

引用0浏览0WOS引用

Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins

Patricia Martinez Oloron, Iosune Alegria,Sergi Cesar,Bernat del Olmo,Estefania Martinez-Barrios,Laura Carrera-Garcia,Daniel Natera-de Benito,Andres Nascimento,Oscar Campuzano,Georgia Sarquella-Brugada

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCESno. 11 (2024)

引用0浏览0WOS引用

Mutations of GEMIN5 Are Associated with Coenzyme Q10 Deficiency: Long-Term Follow-Up after Treatment

EUROPEAN JOURNAL OF HUMAN GENETICSno. 4 (2024): 426-434

引用0浏览0WOSNATURE引用

Description of Clinical and Genetic Features of 122 Patients Included in the Spanish Pompe Registry

Rafael Jenaro Martinez-Marin,David Reyes-Leiva,Andres Nascimento,Nuria Muelas,C. Dominguez-Gonzalez,Carmen Paradas,Montse Olive,Mar Garcia-Romero,Samuel Ignacio Pascual-Pascual,Josep Maria Grau,Miguel Angel Barba-Romero,Maria Teresa Gomez-Caravaca,Javier de las Heras,Pilar Casquero,Maria Dolores Mendoza, Juan Carlos de Leon, Antonio Gutierrez,German Moris,Raquel Blanco-Lago,Alba Ramos-Fransi, Guillem Pintos,Maria Jose Garcia-Antelo,Maria Rabasa,Yolanda Morgado,Mercedes Uson, Francisco Javier Miralles, Jose Eulalio Barcena-Llona, Ana Belen Gomez-Belda, Maria Isabel Pedraza-Hueso, Miryam Hortelano, Antoni Colome, Guillermina Garcia-Martin,Adolfo Lopez de Munain,Ivonne Jerico,Lucia Galan-Davila,Julio Pardo, Giorgina Salgueiro-Origlia,Jorge Alonso-Perez,Francesc Pla-Junca,Marianela Schiava, Sonia Segovia-Simon,Jordi Diaz-Manera

NEUROMUSCULAR DISORDERS (2024): 1-8

引用0浏览0WOS引用

Clinical and Genetic Analysis of Patients with TK2 Deficiency

Francisco Ceballos,Pablo Serrano-Lorenzo,Laura Bermejo-Guerrero,Alberto Blazquez,Juan F. Quesada-Espinosa,Jorge Amigo,Pablo Minguez,Carmen Ayuso,Elena Garcia-Arumi,Nuria Muelas,Teresa Jaijo,Andres Nascimento, Beatriz Galan-Rodriguez,Carmen Paradas,Joaquin Arenas,Angel Carracedo,Ramon Marti,Miguel A. Martin,Cristina Dominguez-Gonzalez

NEUROLOGY-GENETICSno. 2 (2024)

引用0浏览0WOS引用

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

Berta Estevez-Arias,Leslie Matalonga,Loreto Martorell,Anna Codina,Carlos Ortez,Laura Carrera-Garcia,Jessica Exposito-Escudero,Delia Yubero,Janet Hoenicka,Cristina Jou,Francesc Palau,Sergi Beltran,Hanns Lochmuller,Ana Topf,Andres Nascimento,Daniel Natera-de Benito

JOURNAL OF NEUROMUSCULAR DISEASESno. 3 (2024): 647-653

引用0浏览0WOS引用

Effects of 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 Bönnemann, Laura Toledo-Bravo de Laguna,Andres Nascimento,Daniel Natera-de Benito,Isabelle Draper,Christine C Bruels,Christina A Pacak,Peter B Kang

bioRxiv : the preprint server for biology (2024)

引用0浏览0WOS引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn