Carmen Badosa

Affiliations

Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.

Publications (13)

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.

Frontiers in neurology

Avec: Selena Trifunov , Daniel Natera-de Benito , Jesica Maria Exposito Escudero , Carlos Ortez , Julita Medina , Daniel Cuadras , Carmen Badosa , Laura Carrera , Andres Nascimento , Cecilia Jimenez-Mallebrera

Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.

Clinical chemistry

Avec: Selena Trifunov , Abraham J Paredes-Fuentes , Carmen Badosa , Anna Codina , Julio Montoya , Eduardo Ruiz-Pesini , Cristina Jou , Glòria Garrabou , Josep M Grau-Junyent , Dèlia Yubero , Raquel Montero , Jordi Muchart , Juan D Ortigoza-Escobar , Maria M O'Callaghan , Andrés Nascimento , Albert Català , Àngels Garcia-Cazorla , Cecilia Jimenez-Mallebrera , Rafael Artuch

Pathological Features in Paediatric Patients with TK2 Deficiency.

International journal of molecular sciences

Avec: Cristina Jou , Andres Nascimento , Anna Codina , Julio Montoya , Ester López-Gallardo , Sonia Emperador , Eduardo Ruiz-Pesini , Raquel Montero , Daniel Natera-de Benito , Carlos I Ortez , Jesus Marquez , Maria V Zelaya , Alfonso Gutierrez-Mata , Carmen Badosa , Laura Carrera-García , Jesica Expósito-Escudero , Monica Roldán , Yolanda Camara , Ramon Marti , Isidre Ferrer , Cecilia Jimenez-Mallebrera , Rafael Artuch

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.

Journal of neuromuscular diseases

Avec: Selena Trifunov , Daniel Natera-de Benito , Laura Carrera-García , Anna Codina , Jesica Expósito-Escudero , Carlos Ortez , Julita Medina , Soraya Torres Alcala , Sara Bernal , Laura Alias , Carmen Badosa , Sol Balsells , Daniel Alcolea , Andres Nascimento , Cecilia Jimenez-Mallebrera

Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

Scientific reports

Avec: Miroslav P Milev , Daniela Stanga , Anne Schänzer , Andrés Nascimento , Djenann Saint-Dic , Carlos Ortez , Daniel Natera-de Benito , Desiré González Barrios , Jaume Colomer , Carmen Badosa , Cristina Jou , Pia Gallano , Lidia Gonzalez-Quereda , Ana Töpf , Katherine Johnson , Volker Straub , Andreas Hahn , Michael Sacher , Cecilia Jimenez-Mallebrera

Personalized

Frontiers in bioengineering and biotechnology

Avec: Enrico Almici , Vanessa Chiappini , Arístides López-Márquez , Carmen Badosa , Blanca Blázquez , David Caballero , Joan Montero , Daniel Natera-de Benito , Andrés Nascimento , Mònica Roldán , Anna Lagunas , Cecilia Jiménez-Mallebrera , Josep Samitier

Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency.

Molecular genetics and metabolism reports

Avec: Carlos Pablo de Fuenmayor-Fernández de la Hoz , Germán Morís , Cecilia Jiménez-Mallebrera , Carmen Badosa , Aurelio Hernández-Laín , Alberto Blázquez Encinar , Miguel Ángel Martín , Cristina Domínguez-González

Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness.

Neuromuscular disorders : NMD

Avec: Marion Brisset , Corinne Metay , Robert-Yves Carlier , Carmen Badosa , Caterina Marques , Joost Schalkwijk , Ivonne vanVlijmen-Willems , Cecilia Jimenez-Mallebrera , Boris Keren , Valérie Jobic , Pascal Laforêt , Edoardo Malfatti

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

Scientific reports

Avec: Miroslav P Milev , Daniela Stanga , Anne Schänzer , Andrés Nascimento , Djenann Saint-Dic , Carlos Ortez , Daniel Natera-de Benito , Desiré González Barrios , Jaume Colomer , Carmen Badosa , Cristina Jou , Pia Gallano , Lidia Gonzalez-Quereda , Ana Töpf , Katherine Johnson , Volker Straub , Andreas Hahn , Michael Sacher , Cecilia Jimenez-Mallebrera

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.

Scientific reports

Avec: Cristina Dominguez-Gonzalez , Carmen Badosa , Marcos Madruga-Garrido , Itxaso Martí , Carmen Paradas , Carlos Ortez , Jordi Diaz-Manera , Andres Berardo , Jorge Alonso-Pérez , Selena Trifunov , Daniel Cuadras , Susana G Kalko , Cora Blázquez-Bermejo , Yolanda Cámara , Ramon Martí , Fabiola Mavillard , Miguel A Martin , Julio Montoya , Eduardo Ruiz-Pesini , Joan Villarroya , Raquel Montero , Francesc Villarroya , Rafael Artuch , Michio Hirano , Andrés Nascimento , Cecilia Jimenez-Mallebrera

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant

International journal of molecular sciences

Avec: Arístides López-Márquez , Matías Morín , Sergio Fernández-Peñalver , Carmen Badosa , Alejandro Hernández-Delgado , Daniel Natera-de Benito , Carlos Ortez , Andrés Nascimento , Daniel Grinberg , Susanna Balcells , Mónica Roldán , Miguel Ángel Moreno-Pelayo , Cecilia Jiménez-Mallebrera

The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy.

International journal of molecular sciences

Avec: Enrico Castroflorio , Ana Joaquina Pérez Berná , Arístides López-Márquez , Carmen Badosa , Pablo Loza-Alvarez , Mónica Roldán , Cecilia Jiménez-Mallebrera

Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility.

Scientific reports

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

Réseau de co-auteurs

Cecilia Jimenez-Mallebrera 9 collaborations

Daniel Natera-de Benito 7 collaborations

Carlos Ortez 6 collaborations

Andrés Nascimento 6 collaborations

Selena Trifunov 4 collaborations

Cristina Jou 4 collaborations

Cecilia Jiménez-Mallebrera 4 collaborations

Andres Nascimento 3 collaborations

Anna Codina 3 collaborations

Julio Montoya 3 collaborations

Eduardo Ruiz-Pesini 3 collaborations

Raquel Montero 3 collaborations

Rafael Artuch 3 collaborations

Arístides López-Márquez 3 collaborations

Mónica Roldán 3 collaborations

Julita Medina 2 collaborations

Daniel Cuadras 2 collaborations

Laura Carrera-García 2 collaborations

Jesica Expósito-Escudero 2 collaborations

Miroslav P Milev 2 collaborations

Daniela Stanga 2 collaborations

Anne Schänzer 2 collaborations

Djenann Saint-Dic 2 collaborations

Desiré González Barrios 2 collaborations

Jaume Colomer 2 collaborations

Pia Gallano 2 collaborations

Lidia Gonzalez-Quereda 2 collaborations

Ana Töpf 2 collaborations

Katherine Johnson 2 collaborations

Volker Straub 2 collaborations

Andreas Hahn 2 collaborations

Michael Sacher 2 collaborations

Jesica Maria Exposito Escudero 1 collaboration

Laura Carrera 1 collaboration

Abraham J Paredes-Fuentes 1 collaboration

Glòria Garrabou 1 collaboration

Josep M Grau-Junyent 1 collaboration

Dèlia Yubero 1 collaboration

Jordi Muchart 1 collaboration

Juan D Ortigoza-Escobar 1 collaboration

Maria M O'Callaghan 1 collaboration

Albert Català 1 collaboration

Àngels Garcia-Cazorla 1 collaboration

Ester López-Gallardo 1 collaboration

Sonia Emperador 1 collaboration

Carlos I Ortez 1 collaboration

Jesus Marquez 1 collaboration

Maria V Zelaya 1 collaboration

Alfonso Gutierrez-Mata 1 collaboration

Monica Roldán 1 collaboration

Yolanda Camara 1 collaboration

Ramon Marti 1 collaboration

Isidre Ferrer 1 collaboration

Soraya Torres Alcala 1 collaboration

Sara Bernal 1 collaboration

Laura Alias 1 collaboration

Sol Balsells 1 collaboration

Daniel Alcolea 1 collaboration

Enrico Almici 1 collaboration

Vanessa Chiappini 1 collaboration

Blanca Blázquez 1 collaboration

David Caballero 1 collaboration

Joan Montero 1 collaboration

Mònica Roldán 1 collaboration

Anna Lagunas 1 collaboration

Josep Samitier 1 collaboration

Carlos Pablo de Fuenmayor-Fernández de la Hoz 1 collaboration

Germán Morís 1 collaboration

Aurelio Hernández-Laín 1 collaboration

Alberto Blázquez Encinar 1 collaboration

Miguel Ángel Martín 1 collaboration

Cristina Domínguez-González 1 collaboration

Marion Brisset 1 collaboration

Corinne Metay 1 collaboration

Robert-Yves Carlier 1 collaboration

Caterina Marques 1 collaboration

Joost Schalkwijk 1 collaboration

Ivonne vanVlijmen-Willems 1 collaboration

Boris Keren 1 collaboration

Valérie Jobic 1 collaboration

Pascal Laforêt 1 collaboration

Edoardo Malfatti 1 collaboration

Cristina Dominguez-Gonzalez 1 collaboration

Marcos Madruga-Garrido 1 collaboration

Itxaso Martí 1 collaboration

Carmen Paradas 1 collaboration

Jordi Diaz-Manera 1 collaboration

Andres Berardo 1 collaboration

Jorge Alonso-Pérez 1 collaboration

Susana G Kalko 1 collaboration

Cora Blázquez-Bermejo 1 collaboration

Yolanda Cámara 1 collaboration

Ramon Martí 1 collaboration

Fabiola Mavillard 1 collaboration

Miguel A Martin 1 collaboration

Joan Villarroya 1 collaboration

Francesc Villarroya 1 collaboration

Michio Hirano 1 collaboration

Matías Morín 1 collaboration

Sergio Fernández-Peñalver 1 collaboration

Alejandro Hernández-Delgado 1 collaboration

Daniel Grinberg 1 collaboration

Susanna Balcells 1 collaboration

Miguel Ángel Moreno-Pelayo 1 collaboration

Enrico Castroflorio 1 collaboration

Ana Joaquina Pérez Berná 1 collaboration

Pablo Loza-Alvarez 1 collaboration

Joaquín Fernández-Irigoyen 1 collaboration

Enrique Santamaria 1 collaboration