Researcher
Loreto Martorell
Hospital Sant Joan de Déu
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103 papers found
All papers authored by Loreto Martorell
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Severity of GNAO1‐Related Disorder Correlates with Changes in G‐Protein Function
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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
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,
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
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,
Judith Armstrong,
Guerau Fernández Isern,
José Manuel Mascaro,
Sol Balsells,
Itziar Alonso,
Mercedes Serrano,
Juan Darío Ortigoza‐Escobar
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,
Deyanira García‐Navas,
Hilario Gómez‐Martín,
Loreto Martorell ,
Juan Darío Ortigoza‐Escobar
Action Induced Myoclonus in a 11‐Year‐Old Boy with Silver‐Russell Syndrome
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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
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,
Lola Falcón-Neyra ,
Olaf Neth,
Luis Prieto,
Sara Guillén ,
Fernando Baquero-Artigao,
Ana Méndez-Echevarría ,
David Gómez-Pastrana ,
Ana Belén Jiménez,
Rebeca Lahoz
and 7 other authors
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,
Héctor Salvador ,
Rocío G. García ,
Loreto Martorell-Sampol ,
César G. Fontecha ,
Ferran Torner-Rubies ,
Laura M. Perez-Lopez
Lateralized overgrowth as a guiding sign of abdominal neoplasms for pediatric orthopedic surgeons
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,
Marta Perez‐Somarriba ,
Vicente Santa‐Maria ,
Ofelia Cruz,
Enric García‐Rey,
Loreto Martorell ,
Montserrat Rovira,
Adriana Margarit,
Julia Marsal
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,
Tania Nunes,
Gholson J. Lyon ,
Juan Darío Ortigoza‐Escobar
Neurodevelopmental Gene‐Related Dystonia: A Pediatric Case with NAA15 Variant
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,
Alfons Macaya ,
Belén Pérez‐Dueñas ,
Juan Darío Ortigoza‐Escobar
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,
Britta Baumann,
Elena Buena-Atienza,
Zeinab Ravesh ,
Artur V. Cideciyan ,
Katarina Stingl ,
Isabelle Audo ,
Isabelle Meunier ,
Beatrice Bocquet ,
Elias I. Traboulsi ,
Alison J. Hardcastle ,
Jessica C. Gardner ,
Michel Michaelides,
Kari E. Branham,
Thomas Rosenberg
and 16 other authors
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,
Britta Baumann,
Peggy Reuter ,
Sten Andreasson,
Isabelle Audo ,
Carmen Ayuso,
Ghassan Balousha ,
Francesco Benedicenti ,
David Birch ,
Pierre Bitoun ,
Delphine Blain ,
Beatrice Bocquet,
Kari Branham,
Jaume Català‐Mora ,
Elfride De Baere
and 36 other authors
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
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,
Delia Yubero,
Esther Cuatrecasas Capdevila,
Guerau Fernández Isern,
Diana Salinas,
Rosanna Mari Vico,
Mónica Rebollo,
Jordi Muchart,
Judith Armstrong,
Juan Darío Ortigoza‐Escobar
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,
Loreto Martorell ,
Delia Yubero,
Carla Verges,
Vincent Petit,
Juan Darío Ortigoza‐Escobar
Paroxysmal Non‐Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells
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,
Daniel Cuadras,
Helena Colom,
Mercè Pineda,
Maria del Mar O’Callaghan,
Georgia Sarquella-Brugada,
Alejandra Darling,
Rafael Artuch
Plasma idebenone monitoring in Friedreich’s ataxia patients during a long-term follow-up
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