Loreto Martorell (Loreto Martorell-Sampol)

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 11

Top Topics

Intellectual Disability

Hepatitis C Virus

Genome Wide Analysis

Deep Brain Stimulation

Top Venues

Movement disorders clinical practice

Antibiotics (Basel, Switzerland)

Proceedings of the National Academy of Sciences of the United States of America

This page only lists publications with an associated author ORCID identifier.

Publications

Laia Nou-Fontanet, Laura Martí-Sánchez, Loreto Martorell, Jesús Casas, Juan Dario Ortigoza-Escobar
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features. Movement disorders clinical practice (2024)
Laia Nou-Fontanet, Laura Martí-Sánchez, Loreto Martorell, Jesús Casas, Juan Dario Ortigoza-Escobar
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features. Movement disorders clinical practice 11 (7) (2024)
Laia Nou-Fontanet, Laura Martí-Sánchez, Loreto Martorell, Jesús Casas, Juan Dario Ortigoza-Escobar
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features. Movement disorders clinical practice 11 (7) (2024)
Maria Goretti López-Ramos, Joan Vinent, Rob Aarnoutse, Angela Colbers, Eneritz Velasco-Arnaiz, Loreto Martorell, Lola Falcón-Neyra, Olaf Neth, Luis Prieto, Sara Guillén, Fernando Baquero-Artigao, Ana Mendez-Echevarría, David Gómez-Pastrana, Ana Belén Jiménez, Rebeca Lahoz, José Tomás Ramos-Amador, Antonio Soriano-Arandes, Begoña Santiago, Rosa Farré, Clàudia Fortuny, Dolors Soy, Antoni Noguera-Julian
Adequacy of the 10 mg/kg Daily Dose of Antituberculosis Drug Isoniazid in Infants under 6 Months of Age. Antibiotics (Basel, Switzerland) 12 (2) (2023)
Maria Goretti López-Ramos, Joan Vinent, Rob Aarnoutse, Angela Colbers, Eneritz Velasco-Arnaiz, Loreto Martorell, Lola Falcón-Neyra, Olaf Neth, Luis Prieto, Sara Guillén, Fernando Baquero-Artigao, Ana Mendez-Echevarría, David Gómez-Pastrana, Ana Belén Jiménez, Rebeca Lahoz, José Tomás Ramos-Amador, Antonio Soriano-Arandes, Begoña Santiago, Rosa Farré, Clàudia Fortuny, Dolors Soy, Antoni Noguera-Julian
Adequacy of the 10 mg/kg Daily Dose of Antituberculosis Drug Isoniazid in Infants under 6 Months of Age. Antibiotics (Basel, Switzerland) 12 (2) (2023)
Monica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype. International journal of molecular sciences 24 (18) (2023)
Maria Goretti López-Ramos, Joan Vinent, Rob Aarnoutse, Angela Colbers, Eneritz Velasco-Arnaiz, Loreto Martorell, Lola Falcón-Neyra, Olaf Neth, Luis Prieto, Sara Guillén, Fernando Baquero-Artigao, Ana Mendez-Echevarría, David Gómez-Pastrana, Ana Belén Jiménez, Rebeca Lahoz, José Tomás Ramos-Amador, Antonio Soriano-Arandes, Begoña Santiago, Rosa Farré, Clàudia Fortuny, Dolors Soy, Antoni Noguera-Julian
Adequacy of the 10 mg/kg Daily Dose of Antituberculosis Drug Isoniazid in Infants under 6 Months of Age. Antibiotics (Basel, Switzerland) 12 (2) (2023)
Delia Yubero, Loreto Martorell, Tania Nunes, Gholson J Lyon, Juan Dario Ortigoza-Escobar
Neurodevelopmental Gene-Related Dystonia: A Pediatric Case with NAA15 Variant. Movement disorders : official journal of the Movement Disorder Society 37 (11) (2022)
Loreto Martorell, Alfons Macaya, Belen Perez-Duenas, Juan Dario Ortigoza-Escobar
Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants. Movement disorders clinical practice 9 (7) (2022)
Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Geoffrey Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Catala, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R Heckenlively, Samuel G Jacobson, Kaylie D Jones, Herbert Jägle, Andreas R Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell, André M Vieira Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S Plomp, Thomy J L de Ravel, Charlotte M Reiff, Agnes B Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E Cumhur Sener, Paul A Sieving, Franco Stanzial, Elias I Traboulsi, Stephen H Tsang, Balázs Varsanyi, Richard G Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Human mutation 43 (7) (2022)
Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Zeinab Ravesh, Artur V Cideciyan, Katarina Stingl, Isabelle Audo, Isabelle Meunier, Béatrice Bocquet, Elias I Traboulsi, Alison J Hardcastle, Jessica C Gardner, Michel Michaelides, Kari E Branham, Thomas Rosenberg, Sten Andreasson, Hélène Dollfus, David Birch, Andrea L Vincent, Loreto Martorell, Jaume Catala, Ulrich Kellner, Klaus Rüther, Birgit Lorenz, Markus N Preising, Emanuela Manfredini, Yuri A Zarate, Raymon Vijzelaar, Eberhart Zrenner, Samuel G Jacobson, Susanne Kohl
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy. Proceedings of the National Academy of Sciences of the United States of America 119 (27) (2022)