Cecilia Jimenez-Mallebrera - Ctr Invest Biomed Red Enfermedades Raras CIBERER

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论文共 187 篇作者统计合作学者相似作者

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Collablots: Quantification of Collagen VI Levels and Its Structural Disorganisation in Cell Cultures from Patients with Collagen VI-related Dystrophies

Nadia Osegui-Barcenilla, Maria Sendino, Sergio Martín-González, Itziar González-Moro, Ainhoa Benito-Agustino, Noemi Torres-Conde,Andrea López-Martínez,Cecilia Jiménez-Mallebrera, Arístides López-Márquez,Virginia Arechavala-Gomeza

Neuropathology and applied neurobiologyno. 3 (2025): e70020-e70020

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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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RNA Sequencing As a Diagnostic Tool in a Cohort of 54 Undiagnosed Patients with Neuromuscular Diseases

A. Segarra-Casas,C. Dominguez-Gonzalez,D. Natera-de-Benito,C. Ortez,A. Nascimiento,A. Hernandez-Lain,S. Kapetanovic, M. Rodriguez,L. Gonzalez-Mera, V. Nedkova,R. Fernandez-Torron,A. Lopez-de Munain,C. Jimenez-Mallebrera,B. Rodriguez-Santiago,E. Gallardo,M. Olive,P. Gallano,L. Gonzalez-Quereda

NEUROMUSCULAR DISORDERS (2024)

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

A. Foley,V. Bolduc,F. Guirguis,S. Donkervoort, Y. Hu, R. Orbach,P. Mohassel, H. Zhou,S. Aguti,C. Jimenez-Mallebrera,S. Lamande,V. Allamand,F. Gualandi,A. Ferlini,S. Wilton,R. Wagener, E. Bertini,F. Muntoni,C. Bonnemann

NEUROMUSCULAR DISORDERS (2024)

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10P Characterization of the Severe Phenotype of COL6-related Dystrophy Due to the Recurrent Deep Intronic Pseudoexon-Inducing Variant COL6A1 C.930+189c>t

A. Foley,V. Bolduc,F. Guirguis,S. Donkervoort, Y. Hu, R. Orbach,P. Mohassel, H. Zhou,S. Aguti,C. Jimenez-Mallebrera,S. Lamandé,V. Allamand,F. Gualandi,A. Ferlini,S. Wilton,R. Wagener, E. Bertini,F. Muntoni,C. Bönnemann

Neuromuscular Disorders（2024）

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Cell-derived Matrices Mechanics As a Functional Read-out in Collagen VI-related Congenital Muscular Dystrophies

Tom White,Arístides López-Márquez,Carmen Badosa,Cecilia Jiménez-Mallebrera,Josep Samitier,Marina I. Giannotti,Anna Lagunas

biorxiv（2024）

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38P Collablot, a New Immunodetection Assay for the Quantification of Collagen VI Expression and Secretion in Cell Culture

M. Sendino, S. Martin-Gonzalez, N. Osegui-Barcenilla, A. Lopez-Marquez, I. Gonzalez-Moro, A. Benito-Agustino,A. Lopez-Martinez,C. Jimenez-Mallebrera,V. Arechavala Gomeza

NEUROMUSCULAR DISORDERS（2024）

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478P RNA Sequencing As a Diagnostic Tool in a Cohort of 54 Undiagnosed Patients with Neuromuscular Diseases

A. Segarra-Casas,C. Domínguez-González,D. Natera-de-Benito,C. Ortez,A. Nascimiento,A. Hernández-Laín,S. Kapetanovic, M. Rodríguez,L. González-Mera, V. Nedkova,R. Fernández-Torrón,A. López-de Munain,C. Jimenez-Mallebrera,B. Rodríguez-Santiago,E. Gallardo,M. Olivé,P. Gallano,L. González-Quereda

Neuromuscular Disorders（2024）

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Proteomic and Functional Characterisation of Extracellular Vesicles from Collagen VI Deficient Human Fibroblasts Reveals a Role in Cell Motility

Carmen Badosa,Mónica Roldán,Joaquín Fernández-Irigoyen, Enrique Santamaria,Cecilia Jimenez-Mallebrera

Scientific Reports（2023）

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