Elisenda Cortès-Saladelafont

Affiliations

Molecular Neurosciences, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

Publications (16)

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.

Movement disorders : official journal of the Movement Disorder Society

Avec: Joanne Ng , Elisenda Cortès-Saladelafont , Lucia Abela , Pichet Termsarasab , Kshitij Mankad , Sniya Sudhakar , Kathleen M Gorman , Simon J R Heales , Simon Pope , Lorenzo Biassoni , Barbara Csányi , John Cain , Karl Rakshi , Helen Coutts , Sandeep Jayawant , Rosalind Jefferson , Deborah Hughes , Àngels García-Cazorla , Detelina Grozeva , F Lucy Raymond , Belén Pérez-Dueñas , Christian De Goede , Toni S Pearson , Esther Meyer , Manju A Kurian

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH

Orphanet journal of rare diseases

Avec: Thomas Opladen , Eduardo López-Laso , Elisenda Cortès-Saladelafont , Toni S Pearson , H Serap Sivri , Yilmaz Yildiz , Birgit Assmann , Manju A Kurian , Vincenzo Leuzzi , Simon Heales , Simon Pope , Francesco Porta , Angeles García-Cazorla , Tomáš Honzík , Roser Pons , Luc Regal , Helly Goez , Rafael Artuch , Georg F Hoffmann , Gabriella Horvath , Beat Thöny , Sabine Scholl-Bürgi , Alberto Burlina , Marcel M Verbeek , Mario Mastrangelo , Jennifer Friedman , Tessa Wassenberg , Kathrin Jeltsch , Jan Kulhánek , Oya Kuseyri Hübschmann , Auteur inconnu

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.

Journal of inherited metabolic disease

Avec: Oya Kuseyri Hübschmann , Alexander Mohr , Jennifer Friedman , Filippo Manti , Gabriella Horvath , Elisenda Cortès-Saladelafont , Saadet Mercimek-Andrews , Yilmaz Yildiz , Roser Pons , Jan Kulhánek , Mari Oppebøen , Jeanette Aimee Koht , Inés Podzamczer-Valls , Rosario Domingo-Jimenez , Salvador Ibáñez , Oscar Alcoverro-Fortuny , Teresa Gómez-Alemany , Pedro de Castro , Chiara Alfonsi , Dimitrios I Zafeiriou , Eduardo López-Laso , Philipp Guder , René Santer , Tomáš Honzík , Georg F Hoffmann , Sven F Garbade , H Serap Sivri , Vincenzo Leuzzi , Kathrin Jeltsch , Angeles García-Cazorla , Thomas Opladen , Auteur inconnu , Inga Harting

Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.

Molecular genetics and metabolism reports

Avec: M Mar Rovira-Remisa , Mónica Moreira , Paula Sol Ventura , Pablo Gonzalez-Alvarez , Núria Mestres , Fredzzia Graterol Torres , Clara Joaquín , Agustí Rodríguez-Palmero Seuma , Maria Del Mar Martínez-Colls , Ana Roche , Salvador Ibáñez-Micó , Eduardo López-Laso , María Jesús Méndez-Hernández , Marta Murillo , Laura Monlleó-Neila , Elena Maqueda-Castellote , Mireia Del Toro Riera , Ana Felipe-Rucián , Maria Giralt-López , Elisenda Cortès-Saladelafont

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

Journal of inherited metabolic disease

Avec: Natalia Alexandra Julia-Palacios , Oya Kuseyri Hübschmann , Mireia Olivella , Roser Pons , Gabriella Horvath , Thomas Lücke , Cheuk-Wing Fung , Suet-Na Wong , Elisenda Cortès-Saladelafont , M Mar Rovira-Remisa , Yılmaz Yıldız , Saadet Mercimek-Andrews , Birgit Assmann , Galina Stevanović , Filippo Manti , Heiko Brennenstuhl , Sabine Jung-Klawitter , Kathrin Jeltsch , H Serap Sivri , Sven F Garbade , Àngels García-Cazorla , Thomas Opladen

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy.

Biomedicines

Avec: Alba-Aina Castells , Rafel Balada , Alba Tristán-Noguero , Mar O'Callaghan , Elisenda Cortès-Saladelafont , Ainhoa Pascual-Alonso , Àngels Garcia-Cazorla , Judith Armstrong , Soledad Alcántara

Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.

Scientific reports

Avec: Alba-Aina Castells , Daniela Gueraldi , Rafel Balada , Alba Tristán-Noguero , Elisenda Cortès-Saladelafont , Federico Ramos , Silvia Meavilla , Mariela De Los Santos , Camila Garcia-Volpe , Roser Colomé , Maria Luz Couce , Cristina Sierra , Aida Ormazábal , Marta Batllori , Rafael Artuch , Judith Armstrong , Soledad Alcántara , Àngels Garcia-Cazorla

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Orphanet journal of rare diseases

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

Journal of inherited metabolic disease

Avec: Mareike Keller , Heiko Brennenstuhl , Oya Kuseyri Hübschmann , Filippo Manti , Natalia Alexandra Julia Palacios , Jennifer Friedman , Yılmaz Yıldız , Jeanette Aimee Koht , Suet-Na Wong , Dimitrios I Zafeiriou , Eduardo López-Laso , Roser Pons , Jan Kulhánek , Kathrin Jeltsch , Jesus Serrano-Lomelin , Sven F Garbade , Thomas Opladen , Helly Goez , Auteur inconnu , Alberto Burlina , Elisenda Cortès-Saladelafont , Joaquín Alejandro Fernández Ramos , Angeles García-Cazorla , Georg F Hoffmann , Stacey Tay Kiat Hong , Tomáš Honzík , Ivana Kavecan , Manju A Kurian , Vincenzo Leuzzi , Thomas Lücke , Francesca Manzoni , Mario Mastrangelo , Saadet Mercimek-Andrews , Pablo Mir , Mari Oppebøen , Toni S Pearson , H Serap Sivri , Dora Steel , Galina Stevanović , Cheuk-Wing Fung

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.

Annals of neurology

Avec: Oya Kuseyri Hübschmann , Natalia Alexandra Juliá-Palacios , Mireia Olivella , Philipp Guder , Dimitrios I Zafeiriou , Gabriella Horvath , Jan Kulhánek , Toni S Pearson , Alice Kuster , Elisenda Cortès-Saladelafont , Salvador Ibáñez , Maria Concepción García-Jiménez , Tomáš Honzík , René Santer , Kathrin Jeltsch , Sven F Garbade , Georg F Hoffmann , Thomas Opladen , Ángeles García-Cazorla

Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.

Journal of inherited metabolic disease

Avec: Ulrike Mütze , Florian Gleich , Ivo Barić , Mathias Baumgartner , Alberto Burlina , Kimberly A Chapman , Yin-Hsiu Chien , Elisenda Cortès-Saladelafont , Corinne De Laet , Dries Dobbelaere , Francois Eysken , Matthias Gautschi , Rene Santer , Johannes Häberle , Clara Joaquín , Daniela Karall , Martin Lindner , Allan M Lund , Chris Mühlhausen , Elaine Murphy , Dominique Roland , Angeles Ruiz Gomez , Anastasia Skouma , Sarah C Grünert , Margreet Wagenmakers , Sven F Garbade , Stefan Kölker , Nikolas Boy

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.

Nature communications

Avec: Oya Kuseyri Hübschmann , Gabriella Horvath , Elisenda Cortès-Saladelafont , Yılmaz Yıldız , Mario Mastrangelo , Roser Pons , Jennifer Friedman , Saadet Mercimek-Andrews , Suet-Na Wong , Toni S Pearson , Dimitrios I Zafeiriou , Jan Kulhánek , Manju A Kurian , Eduardo López-Laso , Mari Oppebøen , Sebile Kılavuz , Tessa Wassenberg , Helly Goez , Sabine Scholl-Bürgi , Francesco Porta , Tomáš Honzík , René Santer , Alberto Burlina , H Serap Sivri , Vincenzo Leuzzi , Georg F Hoffmann , Kathrin Jeltsch , Daniel Hübschmann , Sven F Garbade , Auteur inconnu , Angeles García-Cazorla , Thomas Opladen

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.

Orphanet journal of rare diseases

Avec: Pilar Quijada-Fraile , Elena Arranz Canales , Elena Martín-Hernández , María Juliana Ballesta-Martínez , Encarna Guillén-Navarro , Guillem Pintos-Morell , Marc Moltó-Abad , David Moreno-Martínez , Salvador García Morillo , Javier Blasco-Alonso , María Luz Couce , Ricardo Gil Sánchez , Elisenda Cortès-Saladelafont , Mónica A López Rodríguez , María Teresa García-Silva , Montserrat Morales Conejo

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.

Molecular genetics and metabolism

Avec: Mohamed A Elmonem , Amaya Belanger-Quintana , Andrea Bordugo , Ritma Boruah , Elisenda Cortès-Saladelafont , Mounika Endrakanti , Pilar Giraldo , Sarah Catharina Grünert , Neerja Gupta , Madhulika Kabra , Ina Knerr , Johannes Krämer , Alice Kuster , Elena Levtchenko , Lock-Hock Ngu , M Mar Rovira-Remisa , Jörn Oliver Sass , Jolanta Sykut-Cegielska , Albina Tummolo , Lambertus P van den Heuvel

Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.

Neuroradiology

Avec: Chiara Alfonsi , Christian Stephan-Otto , Elisenda Cortès-Saladelafont , Natalia Juliá Palacios , Inés Podzamczer-Valls , Nuria Gutiérrez Cruz , María Rosario Domingo Jiménez , Salvador Ibáñez Micó , Miguel Tomás Vila , Kathrin Jeltsch , Oya Kuseyri Hübschmann , Thomas Opladen , Ramón Velázquez Fragua , Teresa Gómez , Oscar Alcoverro Fortuny , Inmaculada García Jiménez , Eduardo López Laso , Ana Roche Martínez , Jordi Muchart López , Àngels Garcia-Cazorla

Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.

Developmental medicine and child neurology

Avec: Natalia Juliá-Palacios , Cristina Molina-Anguita , María Sigatulina Bondarenko , Elisenda Cortès-Saladelafont , Javier Aparicio , Daniel Cuadras , Gabriella Horvath , Carmen Fons , Rafael Artuch , Àngels García-Cazorla , Auteur inconnu

Réseau de co-auteurs

Thomas Opladen 8 collaborations

Kathrin Jeltsch 8 collaborations

Oya Kuseyri Hübschmann 8 collaborations

Gabriella Horvath 7 collaborations

Toni S Pearson 6 collaborations

Eduardo López-Laso 6 collaborations

H Serap Sivri 6 collaborations

Tomáš Honzík 6 collaborations

Roser Pons 6 collaborations

Georg F Hoffmann 6 collaborations

Jan Kulhánek 6 collaborations

None None 6 collaborations

Sven F Garbade 6 collaborations

Manju A Kurian 5 collaborations

Vincenzo Leuzzi 5 collaborations

Angeles García-Cazorla 5 collaborations

Alberto Burlina 5 collaborations

Jennifer Friedman 5 collaborations

Helly Goez 4 collaborations

Rafael Artuch 4 collaborations

Mario Mastrangelo 4 collaborations

Saadet Mercimek-Andrews 4 collaborations

Dimitrios I Zafeiriou 4 collaborations

Simon Pope 3 collaborations

Àngels García-Cazorla 3 collaborations

Yilmaz Yildiz 3 collaborations

Birgit Assmann 3 collaborations

Francesco Porta 3 collaborations

Sabine Scholl-Bürgi 3 collaborations

Tessa Wassenberg 3 collaborations

Filippo Manti 3 collaborations

Mari Oppebøen 3 collaborations

René Santer 3 collaborations

M Mar Rovira-Remisa 3 collaborations

Suet-Na Wong 3 collaborations

Yılmaz Yıldız 3 collaborations

Àngels Garcia-Cazorla 3 collaborations

Simon Heales 2 collaborations

Luc Regal 2 collaborations

Beat Thöny 2 collaborations

Marcel M Verbeek 2 collaborations

Jeanette Aimee Koht 2 collaborations

Inés Podzamczer-Valls 2 collaborations

Salvador Ibáñez 2 collaborations

Chiara Alfonsi 2 collaborations

Philipp Guder 2 collaborations

Clara Joaquín 2 collaborations

Mireia Olivella 2 collaborations

Thomas Lücke 2 collaborations

Cheuk-Wing Fung 2 collaborations

Galina Stevanović 2 collaborations

Heiko Brennenstuhl 2 collaborations

Alba-Aina Castells 2 collaborations

Rafel Balada 2 collaborations

Alba Tristán-Noguero 2 collaborations

Judith Armstrong 2 collaborations

Soledad Alcántara 2 collaborations

Alice Kuster 2 collaborations

Joanne Ng 1 collaboration

Lucia Abela 1 collaboration

Pichet Termsarasab 1 collaboration

Kshitij Mankad 1 collaboration

Sniya Sudhakar 1 collaboration

Kathleen M Gorman 1 collaboration

Simon J R Heales 1 collaboration

Lorenzo Biassoni 1 collaboration

Barbara Csányi 1 collaboration

John Cain 1 collaboration

Karl Rakshi 1 collaboration

Helen Coutts 1 collaboration

Sandeep Jayawant 1 collaboration

Rosalind Jefferson 1 collaboration

Deborah Hughes 1 collaboration

Detelina Grozeva 1 collaboration

F Lucy Raymond 1 collaboration

Belén Pérez-Dueñas 1 collaboration

Christian De Goede 1 collaboration

Esther Meyer 1 collaboration

Alexander Mohr 1 collaboration

Rosario Domingo-Jimenez 1 collaboration

Oscar Alcoverro-Fortuny 1 collaboration

Teresa Gómez-Alemany 1 collaboration

Pedro de Castro 1 collaboration

Inga Harting 1 collaboration

Mónica Moreira 1 collaboration

Paula Sol Ventura 1 collaboration

Pablo Gonzalez-Alvarez 1 collaboration

Núria Mestres 1 collaboration

Fredzzia Graterol Torres 1 collaboration

Agustí Rodríguez-Palmero Seuma 1 collaboration

Maria Del Mar Martínez-Colls 1 collaboration

Ana Roche 1 collaboration

Salvador Ibáñez-Micó 1 collaboration

María Jesús Méndez-Hernández 1 collaboration

Marta Murillo 1 collaboration

Laura Monlleó-Neila 1 collaboration

Elena Maqueda-Castellote 1 collaboration

Mireia Del Toro Riera 1 collaboration

Ana Felipe-Rucián 1 collaboration

Maria Giralt-López 1 collaboration

Natalia Alexandra Julia-Palacios 1 collaboration

Sabine Jung-Klawitter 1 collaboration

Mar O'Callaghan 1 collaboration

Ainhoa Pascual-Alonso 1 collaboration

Daniela Gueraldi 1 collaboration

Federico Ramos 1 collaboration

Silvia Meavilla 1 collaboration

Mariela De Los Santos 1 collaboration

Camila Garcia-Volpe 1 collaboration

Roser Colomé 1 collaboration

Maria Luz Couce 1 collaboration

Cristina Sierra 1 collaboration

Aida Ormazábal 1 collaboration

Marta Batllori 1 collaboration

Mareike Keller 1 collaboration

Natalia Alexandra Julia Palacios 1 collaboration

Jesus Serrano-Lomelin 1 collaboration

Joaquín Alejandro Fernández Ramos 1 collaboration

Stacey Tay Kiat Hong 1 collaboration

Ivana Kavecan 1 collaboration

Francesca Manzoni 1 collaboration

Pablo Mir 1 collaboration

Dora Steel 1 collaboration

Natalia Alexandra Juliá-Palacios 1 collaboration

Maria Concepción García-Jiménez 1 collaboration

Ángeles García-Cazorla 1 collaboration

Ulrike Mütze 1 collaboration

Florian Gleich 1 collaboration

Ivo Barić 1 collaboration

Mathias Baumgartner 1 collaboration

Kimberly A Chapman 1 collaboration

Yin-Hsiu Chien 1 collaboration

Corinne De Laet 1 collaboration

Dries Dobbelaere 1 collaboration

Francois Eysken 1 collaboration

Matthias Gautschi 1 collaboration

Rene Santer 1 collaboration

Johannes Häberle 1 collaboration

Daniela Karall 1 collaboration

Martin Lindner 1 collaboration

Allan M Lund 1 collaboration

Chris Mühlhausen 1 collaboration

Elaine Murphy 1 collaboration

Dominique Roland 1 collaboration

Angeles Ruiz Gomez 1 collaboration

Anastasia Skouma 1 collaboration

Sarah C Grünert 1 collaboration

Margreet Wagenmakers 1 collaboration

Stefan Kölker 1 collaboration

Nikolas Boy 1 collaboration

Sebile Kılavuz 1 collaboration

Daniel Hübschmann 1 collaboration

Pilar Quijada-Fraile 1 collaboration

Elena Arranz Canales 1 collaboration

Elena Martín-Hernández 1 collaboration

María Juliana Ballesta-Martínez 1 collaboration

Encarna Guillén-Navarro 1 collaboration

Guillem Pintos-Morell 1 collaboration

Marc Moltó-Abad 1 collaboration

David Moreno-Martínez 1 collaboration

Salvador García Morillo 1 collaboration

Javier Blasco-Alonso 1 collaboration

María Luz Couce 1 collaboration

Ricardo Gil Sánchez 1 collaboration

Mónica A López Rodríguez 1 collaboration

María Teresa García-Silva 1 collaboration

Montserrat Morales Conejo 1 collaboration

Mohamed A Elmonem 1 collaboration

Amaya Belanger-Quintana 1 collaboration

Andrea Bordugo 1 collaboration

Ritma Boruah 1 collaboration

Mounika Endrakanti 1 collaboration

Pilar Giraldo 1 collaboration

Sarah Catharina Grünert 1 collaboration

Neerja Gupta 1 collaboration

Madhulika Kabra 1 collaboration

Ina Knerr 1 collaboration

Johannes Krämer 1 collaboration

Elena Levtchenko 1 collaboration

Lock-Hock Ngu 1 collaboration

Jörn Oliver Sass 1 collaboration

Jolanta Sykut-Cegielska 1 collaboration

Albina Tummolo 1 collaboration

Lambertus P van den Heuvel 1 collaboration

Christian Stephan-Otto 1 collaboration

Natalia Juliá Palacios 1 collaboration

Nuria Gutiérrez Cruz 1 collaboration

María Rosario Domingo Jiménez 1 collaboration

Salvador Ibáñez Micó 1 collaboration

Miguel Tomás Vila 1 collaboration

Ramón Velázquez Fragua 1 collaboration

Teresa Gómez 1 collaboration

Oscar Alcoverro Fortuny 1 collaboration

Inmaculada García Jiménez 1 collaboration

Eduardo López Laso 1 collaboration

Ana Roche Martínez 1 collaboration

Jordi Muchart López 1 collaboration

Natalia Juliá-Palacios 1 collaboration

Cristina Molina-Anguita 1 collaboration

María Sigatulina Bondarenko 1 collaboration

Javier Aparicio 1 collaboration

Daniel Cuadras 1 collaboration

Carmen Fons 1 collaboration