Cristina Jou - Hospital Sant Joan de Deu

基本信息

浏览量：29

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 176 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

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

Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy

Laura Llansó,Alba Segarra-Casas,Cristina Domínguez-González, Edoardo Malfatti,Solange Kapetanovic,Benjamín Rodríguez-Santiago, Oscar de la Calle, Rosa Blanco, Amelia Dobrescu, Andrés Nascimento-Osorio,Andrés Paipa,Aurelio Hernandez-Lain,Cristina Jou,Anaís Mariscal,Laura González-Mera, Ana Arteche,Cinta Lleixà,Marta Caballero-Ávila,Álvaro Carbayo,Ana Vesperinas,Luis Querol,Eduard Gallardo,Montse Olivé

Neurology(R) neuroimmunology & neuroinflammationno. 5 (2024): e200285-e200285

引用0浏览0WOS引用

Absence of Pathogenic Mutations and Strong Association with HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy

Laura Llanso,Alba Segarra-Casas,Cristina Dominguez-Gonzalez,Edoardo Malfatti,Solange Kapetanovic,Benjamin Rodriguez-Santiago, Oscar de la Calle, Rosa Blanco, Amelia Dobrescu, Andres Nascimento-Osorio,Andres Paipa,Aurelio Hernandez-Lain,Cristina Jou,Anais Mariscal,Laura Gonzalez-Mera, Ana Arteche,Cinta Lleixa,Marta Caballero-avila,Alvaro Carbayo,Ana Vesperinas,Luis Querol,Eduard Gallardo,Montse Olive

NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATIONno. 5 (2024)

引用0浏览0引用

New Variants Expand the Neurological Phenotype of COQ7 Deficiency

Maria Alcazar Fabra,Abraham J. Paredes-Fuentes, Manuel Torralba Carnerero, Daniel J. Moreno Fernandez de Ayala, Antonio Arroyo Luque,Ana Sanchez Cuesta, Carmine Staiano,Paula Sanchez-Pintos,Maria Luz Couce,Miguel Tomas,Ana Victoria Marco-Hernandez,Carmen Orellana,Francisco Martinez,Monica Rosello,Alfonso Caro, Juan Silvestre Oltra Soler,Sandra Monfort, Alejandro Sanchez,Dolores Rausell,Isidro Vitoria,Mireia del Toro,Angels Garcia-Cazorla,Natalia A. Julia-Palacios,Cristina Jou,Delia Yubero,Luis Carlos Lopez, Juan Diego Hernandez Camacho, Guillermo Lopez Lluch, Manuel Ballesteros Simarro,Juan Carlos Rodriguez Aguilera,Gloria Brea Calvo, Maria Victoria Cascajo Almenara,Rafael Artuch,Carlos Santos-Ocana

Journal of Inherited Metabolic Disease (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

Temporo-Parieto-Occipital Disconnection by Robot-Assisted Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Refractory Epilepsy in a Pediatric Patient: Proof-of-Principle Case Report and Surgical Nuances

Santiago Candela-Canto,Jose Hinojosa,Jordi Muchart,Cristina Jou, Laura Palau,Carlos Valera, Cecilia Flores,Andrea Palacio-Navarro,Maria Alejandra Climent, Anna Pascual, Adria Gonzalez,Diego Culebras,Mariana Alamar,Victoria Becerra,Javier Aparicio,Jordi Rumia

World Neurosurgery（2024）

引用0浏览0WOS引用

Desensitizing the Autonomic Nervous System to Mitigate Anti-Gd2 Monoclonal Antibody Side Effects

Jaume Mora,Alejandra Climent,Monica Roldan, Marta Cecilia Flores,Amalia Varo,Sara Perez-Jaume,Cristina Jou,Monica S. Celma, Juan Jose Lazaro,Irene Cheung,Alicia Castaneda,Maite Gorostegui,Eva Rodriguez,Saray Chamorro,Juan Pablo Munoz,Nai-Kong Cheung

FRONTIERS IN ONCOLOGY (2024)

引用0浏览0WOS引用

237P Advancing the Understanding of VAMP1-related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases

D. Natera De Benito, A. Pugliese,K. Polavarapu,V. Guergueltcheva, I. Tournev, A. Todorova, J. Ribeiro, D.M. Fernández-Mayoralas,C. Ortez,L. Martorell,B. Estévez-Arias,L. Matalonga, S. Laurie,C. Jou, J. Lau, R. Thompson, X. Shen, A. Engel,A. Nascimento, H. Lochmuller

Neuromuscular Disorders（2024）

引用0浏览0引用

Absence of Pathogenic Mutations and Strong Association with HLA-DRB1*11:01 in Statin-Naive Early-Onset Anti-HMGCR Necrotizing Myopathy

Laura Llanso,Alba Segarra-Casas,Cristina Dominguez-Gonzalez,Edoardo Malfatti,Solange Kapetanovic,Benjamin Rodriguez-Santiago, Oscar de la Calle, Rosa Blanco, Amelia Dobrescu, Andres Nascimento-Osorio,Andres Paipa,Aurelio Hernandez-Lain,Cristina Jou,Anais Mariscal,Laura Gonzalez-Mera, Ana Arteche,Cinta Lleixa,Marta Caballero-Avila,Alvaro Carbayo,Ana Vesperinas,Luis Querol,Eduard Gallardo,Montse Olive

NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATIONno. 5 (2024)

引用0浏览0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