Natalia Juliá-Palacios

Affiliations

Synaptic Metabolism and Personalized Therapies Lab, Institut de Recerca Sant Joan de Déu, Department of Neurology and MetabERN, Esplugues de Llobregat, Barcelona, Spain.
Neurometabolic Unit, Hospital Sant Joan de Déu, Department of Neurology, Esplugues de Llobregat, Barcelona, Spain.

Publications (16)

Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.

Journal of inherited metabolic disease

Avec: Sofía Illescas , Yaiza Diaz-Osorio , Anna Serradell , Lucía Toro-Soria , Uliana Musokhranova , Juliana Ribeiro-Constante , Xavier Altafaj , Mireia Olivella , Mar O'Callaghan , Alejandra Darling , Judith Armstrong , Rafael Artuch , Àngels García-Cazorla , Alfonso Oyarzábal

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.

Human genetics

Avec: Itay Tokatly Latzer , Jean-Baptiste Roullet , Samuele Cesaro , Melissa L DiBacco , Erland Arning , Alexander Rotenberg , Henry H C Lee , Thomas Opladen , Kathrin Jeltsch , Àngels García-Cazorla , K Michael Gibson , Mariarita Bertoldi , Phillip L Pearl

Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.

Human molecular genetics

Avec: Ana Santos-Gómez , Federico Miguez-Cabello , Adrián García-Recio , Sílvia Locubiche-Serra , Roberto García-Díaz , Víctor Soto-Insuga , Rosa Guerrero-López , Francisco Ciruela , Àngels García-Cazorla , David Soto , Mireia Olivella , Xavier Altafaj

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Elena Poggio , Lucia Barazzuol , Andrea Salmaso , Celeste Milani , Adamantia Deligiannopoulou , Ángeles García Cazorla , Se Song Jang , Boris Keren , Robert Kopajtich , Sally Ann Lynch , Cyril Mignot , Catherine Moorwood , Christiane Neuhofer , Vincenzo Nigro , Anna Oostra , Holger Prokisch , Virginie Saillour , Nika Schuermans , Annalaura Torella , Patrick Verloo , Elise Yazbeck , Marcella Zollino , Robert Jech , Juliane Winkelmann , Jan Necpal , Tito Calì , Marisa Brini , Michael Zech

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.

Journal of neurodevelopmental disorders

Avec: Itay Tokatly Latzer , Jean-Baptiste Roullet , Wardiya Afshar-Saber , Henry H C Lee , Mariarita Bertoldi , Gabrielle E McGinty , Melissa L DiBacco , Erland Arning , Melissa Tsuboyama , Alexander Rotenberg , Thomas Opladen , Kathrin Jeltsch , Àngels García-Cazorla , K Michael Gibson , Mustafa Sahin , Phillip L Pearl

Paradigmatic De Novo

International journal of molecular sciences

Avec: Ana Santos-Gómez , Federico Miguez-Cabello , Deyanira García-Navas , Víctor Soto-Insuga , Juan J García-Peñas , Patricia Fuentes , Salvador Ibáñez-Micó , Laura Cuesta , Ramón Cancho , Patricia Andreo-Lillo , Gema Gutiérrez-Aguilar , Olga Alonso-Luengo , Ignacio Málaga , Antonio Hedrera-Fernández , Àngels García-Cazorla , David Soto , Mireia Olivella , Xavier Altafaj

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.

Molecular genetics and metabolism

Avec: Itay Tokatly Latzer , Mariarita Bertoldi , Nenad Blau , Melissa L DiBacco , Sarah H Elsea , Àngels García-Cazorla , K Michael Gibson , Andrea L Gropman , Ellen Hanson , Carolyn Hoffman , Kathrin Jeltsch , Ina Knerr , Henry H C Lee , Patrizia Malaspina , Alice McConnell , Thomas Opladen , Mari Oppebøen , Alexander Rotenberg , Mark Walterfang , Lee Wang-Tso , Ron A Wevers , Jean-Baptiste Roullet , Phillip L Pearl

L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study.

Brain : a journal of neurology

Avec: Mireia Olivella , Mariya Sigatullina Bondarenko , Salvador Ibáñez-Micó , Beatriz Muñoz-Cabello , Olga Alonso-Luengo , Víctor Soto-Insuga , Deyanira García-Navas , Laura Cuesta-Herraiz , Patricia Andreo-Lillo , Sergio Aguilera-Albesa , Antonio Hedrera-Fernández , Elena González Alguacil , Rocío Sánchez-Carpintero , Fernando Martín Del Valle , Erika Jiménez González , Lourdes Cean Cabrera , Ines Medina-Rivera , Marta Perez-Ordoñez , Roser Colomé , Laura Lopez , María Engracia Cazorla , Montserrat Fornaguera , Aida Ormazabal , Itziar Alonso-Colmenero , Katia Sofía Illescas , Sol Balsells-Mejía , Rosanna Mari-Vico , Maria Duffo Viñas , Gerarda Cappuccio , Gaetano Terrone , Roberta Romano , Filippo Manti , Mario Mastrangelo , Chiara Alfonsi , Bruna de Siqueira Barros , Mathilde Nizon , Cathrine Elisabeth Gjerulfsen , Valeria L Muro , Daniela Karall , Fiona Zeiner , Silvia Masnada , Irene Peterlongo , Alfonso Oyarzábal , Ana Santos-Gómez , Xavier Altafaj , Ángeles García-Cazorla

Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.

Clinical chemistry

Avec: Helena Rodriguez-Gonzalez , Aida Ormazabal , Mercedes Casado , Angela Y Arias , Clara Oliva , Maria Barranco-Altirriba , Ricard Casadevall , Francesc García-Cuyas , Andrés Nascimento , Carlos Ortez , Daniel Natera-de Benito , Thais Armangué , Maria M O'Callaghan , Alejandra Darling , Juan Darío Ortigoza-Escobar , Carmen Fons , Angels García-Cazorla , Alexandre Perera-Lluna , Rafael Artuch

Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.

Ophthalmic genetics

Avec: Cristina Del-Prado-Sánchez , Judith Armstrong-Moron , Carla Veiga , Stefano Grixolli-Mazzon , Àngels García-Cazorla , Marta Morales-Ballús

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

Developmental medicine and child neurology

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

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.

The Journal of clinical investigation

Avec: Laura Planas-Serra , Nathalie Launay , Leire Goicoechea , Bénédicte Heron , Cristina Jou , Montserrat Ruiz , Stéphane Fourcade , Carlos Casasnovas , Carolina De La Torre , Antoinette Gelot , Maria Marsal , Pablo Loza-Alvarez , Àngels García-Cazorla , Ali Fatemi , Isidre Ferrer , Manel Portero-Otin , Estela Area-Gómez , Aurora Pujol

U-IMD: the first Unified European registry for inherited metabolic diseases.

Orphanet journal of rare diseases

Avec: Thomas Opladen , Florian Gleich , Viktor Kozich , Maurizio Scarpa , Diego Martinelli , Franz Schaefer , Kathrin Jeltsch , Ángels García-Cazorla , Carlo Dionisi-Vici , Stefan Kölker

Mutations of GEMIN5 are associated with coenzyme Q

European journal of human genetics : EJHG

Avec: Marivi V Cascajo-Almenara , Roser Urreizti , Ana Sánchez-Cuesta , Daniel M Fernández-Ayala , Elena García-Díaz , Clara Oliva , Maria Del Mar O Callaghan , Abraham J Paredes-Fuentes , Pedro J Moreno-Lozano , Jordi Muchart , Andres Nascimento , Carlos I Ortez , Daniel Natera-de Benito , Mercedes Pineda , Noelia Rivera , Tyler R Fortuna , Deepa S Rajan , Plácido Navas , Leonardo Salviati , Francesc Palau , Delia Yubero , Angels García-Cazorla , Udai Bhan Pandey , Carlos Santos-Ocaña , Rafael Artuch

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Molecular genetics and metabolism

Avec: Nastassja Himmelreich , Mariarita Bertoldi , Majid Alfadhel , Malak Ali Alghamdi , Yair Anikster , Xinhua Bao , Fahad A Bashiri , Bruria Ben Zeev , Giovanni Bisello , Ahmet Cevdet Ceylan , Yin-Hsiu Chien , Yew Sing Choy , Sarah H Elsea , Lisa Flint , Àngels García-Cazorla , Charul Gijavanekar , Emel Yılmaz Gümüş , Muddathir H Hamad , Burcu Hişmi , Tomas Honzik , Oya Kuseyri Hübschmann , Wuh-Liang Hwu , Salvador Ibáñez-Micó , Kathrin Jeltsch , Çiğdem Seher Kasapkara , Manju A Kurian , Katarzyna Kusmierska , Ning Liu , Lock Hock Ngu , John D Odom , Winnie Peitee Ong , Thomas Opladen , Mari Oppeboen , Phillip L Pearl , Belén Pérez , Roser Pons , Agnieszka Magdalena Rygiel , Tan Ee Shien , Robert Spaull , Jolanta Sykut-Cegielska , Brahim Tabarki , Trine Tangeraas , Beat Thöny , Tessa Wassenberg , Yongxin Wen , Yusnita Yakob , Jasmine Goh Chew Yin , Jiri Zeman , Nenad Blau

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.

Research square

Réseau de co-auteurs

Àngels García-Cazorla 11 collaborations

Thomas Opladen 6 collaborations

Kathrin Jeltsch 6 collaborations

Mariarita Bertoldi 5 collaborations

Phillip L Pearl 5 collaborations

Xavier Altafaj 4 collaborations

Mireia Olivella 4 collaborations

Rafael Artuch 4 collaborations

Itay Tokatly Latzer 4 collaborations

Jean-Baptiste Roullet 4 collaborations

Melissa L DiBacco 4 collaborations

Alexander Rotenberg 4 collaborations

Henry H C Lee 4 collaborations

K Michael Gibson 4 collaborations

Erland Arning 3 collaborations

Ana Santos-Gómez 3 collaborations

Víctor Soto-Insuga 3 collaborations

Salvador Ibáñez-Micó 3 collaborations

Alejandra Darling 2 collaborations

Alfonso Oyarzábal 2 collaborations

Samuele Cesaro 2 collaborations

Federico Miguez-Cabello 2 collaborations

David Soto 2 collaborations

Deyanira García-Navas 2 collaborations

Patricia Andreo-Lillo 2 collaborations

Olga Alonso-Luengo 2 collaborations

Antonio Hedrera-Fernández 2 collaborations

Nenad Blau 2 collaborations

Sarah H Elsea 2 collaborations

Aida Ormazabal 2 collaborations

Clara Oliva 2 collaborations

Daniel Natera-de Benito 2 collaborations

Carmen Fons 2 collaborations

Angels García-Cazorla 2 collaborations

Sofía Illescas 1 collaboration

Yaiza Diaz-Osorio 1 collaboration

Anna Serradell 1 collaboration

Lucía Toro-Soria 1 collaboration

Uliana Musokhranova 1 collaboration

Juliana Ribeiro-Constante 1 collaboration

Mar O'Callaghan 1 collaboration

Judith Armstrong 1 collaboration

Adrián García-Recio 1 collaboration

Sílvia Locubiche-Serra 1 collaboration

Roberto García-Díaz 1 collaboration

Rosa Guerrero-López 1 collaboration

Francisco Ciruela 1 collaboration

Elena Poggio 1 collaboration

Lucia Barazzuol 1 collaboration

Andrea Salmaso 1 collaboration

Celeste Milani 1 collaboration

Adamantia Deligiannopoulou 1 collaboration

Ángeles García Cazorla 1 collaboration

Se Song Jang 1 collaboration

Boris Keren 1 collaboration

Robert Kopajtich 1 collaboration

Sally Ann Lynch 1 collaboration

Cyril Mignot 1 collaboration

Catherine Moorwood 1 collaboration

Christiane Neuhofer 1 collaboration

Vincenzo Nigro 1 collaboration

Anna Oostra 1 collaboration

Holger Prokisch 1 collaboration

Virginie Saillour 1 collaboration

Nika Schuermans 1 collaboration

Annalaura Torella 1 collaboration

Patrick Verloo 1 collaboration

Elise Yazbeck 1 collaboration

Marcella Zollino 1 collaboration

Robert Jech 1 collaboration

Juliane Winkelmann 1 collaboration

Jan Necpal 1 collaboration

Tito Calì 1 collaboration

Marisa Brini 1 collaboration

Michael Zech 1 collaboration

Wardiya Afshar-Saber 1 collaboration

Gabrielle E McGinty 1 collaboration

Melissa Tsuboyama 1 collaboration

Mustafa Sahin 1 collaboration

Juan J García-Peñas 1 collaboration

Patricia Fuentes 1 collaboration

Laura Cuesta 1 collaboration

Ramón Cancho 1 collaboration

Gema Gutiérrez-Aguilar 1 collaboration

Ignacio Málaga 1 collaboration

Andrea L Gropman 1 collaboration

Ellen Hanson 1 collaboration

Carolyn Hoffman 1 collaboration

Ina Knerr 1 collaboration

Patrizia Malaspina 1 collaboration

Alice McConnell 1 collaboration

Mari Oppebøen 1 collaboration

Mark Walterfang 1 collaboration

Lee Wang-Tso 1 collaboration

Ron A Wevers 1 collaboration

Mariya Sigatullina Bondarenko 1 collaboration

Beatriz Muñoz-Cabello 1 collaboration

Laura Cuesta-Herraiz 1 collaboration

Sergio Aguilera-Albesa 1 collaboration

Elena González Alguacil 1 collaboration

Rocío Sánchez-Carpintero 1 collaboration

Fernando Martín Del Valle 1 collaboration

Erika Jiménez González 1 collaboration

Lourdes Cean Cabrera 1 collaboration

Ines Medina-Rivera 1 collaboration

Marta Perez-Ordoñez 1 collaboration

Roser Colomé 1 collaboration

Laura Lopez 1 collaboration

María Engracia Cazorla 1 collaboration

Montserrat Fornaguera 1 collaboration

Itziar Alonso-Colmenero 1 collaboration

Katia Sofía Illescas 1 collaboration

Sol Balsells-Mejía 1 collaboration

Rosanna Mari-Vico 1 collaboration

Maria Duffo Viñas 1 collaboration

Gerarda Cappuccio 1 collaboration

Gaetano Terrone 1 collaboration

Roberta Romano 1 collaboration

Filippo Manti 1 collaboration

Mario Mastrangelo 1 collaboration

Chiara Alfonsi 1 collaboration

Bruna de Siqueira Barros 1 collaboration

Mathilde Nizon 1 collaboration

Cathrine Elisabeth Gjerulfsen 1 collaboration

Valeria L Muro 1 collaboration

Daniela Karall 1 collaboration

Fiona Zeiner 1 collaboration

Silvia Masnada 1 collaboration

Irene Peterlongo 1 collaboration

Ángeles García-Cazorla 1 collaboration

Helena Rodriguez-Gonzalez 1 collaboration

Mercedes Casado 1 collaboration

Angela Y Arias 1 collaboration

Maria Barranco-Altirriba 1 collaboration

Ricard Casadevall 1 collaboration

Francesc García-Cuyas 1 collaboration

Andrés Nascimento 1 collaboration

Carlos Ortez 1 collaboration

Thais Armangué 1 collaboration

Maria M O'Callaghan 1 collaboration

Juan Darío Ortigoza-Escobar 1 collaboration

Alexandre Perera-Lluna 1 collaboration

Cristina Del-Prado-Sánchez 1 collaboration

Judith Armstrong-Moron 1 collaboration

Carla Veiga 1 collaboration

Stefano Grixolli-Mazzon 1 collaboration

Marta Morales-Ballús 1 collaboration

Cristina Molina-Anguita 1 collaboration

María Sigatulina Bondarenko 1 collaboration

Elisenda Cortès-Saladelafont 1 collaboration

Javier Aparicio 1 collaboration

Daniel Cuadras 1 collaboration

Gabriella Horvath 1 collaboration

None None 1 collaboration

Laura Planas-Serra 1 collaboration

Nathalie Launay 1 collaboration

Leire Goicoechea 1 collaboration

Bénédicte Heron 1 collaboration

Cristina Jou 1 collaboration

Montserrat Ruiz 1 collaboration

Stéphane Fourcade 1 collaboration

Carlos Casasnovas 1 collaboration

Carolina De La Torre 1 collaboration

Antoinette Gelot 1 collaboration

Maria Marsal 1 collaboration

Pablo Loza-Alvarez 1 collaboration

Ali Fatemi 1 collaboration

Isidre Ferrer 1 collaboration

Manel Portero-Otin 1 collaboration

Estela Area-Gómez 1 collaboration

Aurora Pujol 1 collaboration

Florian Gleich 1 collaboration

Viktor Kozich 1 collaboration

Maurizio Scarpa 1 collaboration

Diego Martinelli 1 collaboration

Franz Schaefer 1 collaboration

Ángels García-Cazorla 1 collaboration

Carlo Dionisi-Vici 1 collaboration

Stefan Kölker 1 collaboration

Marivi V Cascajo-Almenara 1 collaboration

Roser Urreizti 1 collaboration

Ana Sánchez-Cuesta 1 collaboration

Daniel M Fernández-Ayala 1 collaboration

Elena García-Díaz 1 collaboration

Maria Del Mar O Callaghan 1 collaboration

Abraham J Paredes-Fuentes 1 collaboration

Pedro J Moreno-Lozano 1 collaboration

Jordi Muchart 1 collaboration

Andres Nascimento 1 collaboration

Carlos I Ortez 1 collaboration

Mercedes Pineda 1 collaboration

Noelia Rivera 1 collaboration

Tyler R Fortuna 1 collaboration

Deepa S Rajan 1 collaboration

Plácido Navas 1 collaboration

Leonardo Salviati 1 collaboration

Francesc Palau 1 collaboration

Delia Yubero 1 collaboration

Udai Bhan Pandey 1 collaboration

Carlos Santos-Ocaña 1 collaboration

Nastassja Himmelreich 1 collaboration

Majid Alfadhel 1 collaboration

Malak Ali Alghamdi 1 collaboration

Yair Anikster 1 collaboration

Xinhua Bao 1 collaboration

Fahad A Bashiri 1 collaboration

Bruria Ben Zeev 1 collaboration

Giovanni Bisello 1 collaboration

Ahmet Cevdet Ceylan 1 collaboration

Yin-Hsiu Chien 1 collaboration

Yew Sing Choy 1 collaboration

Lisa Flint 1 collaboration

Charul Gijavanekar 1 collaboration

Emel Yılmaz Gümüş 1 collaboration

Muddathir H Hamad 1 collaboration

Burcu Hişmi 1 collaboration

Tomas Honzik 1 collaboration

Oya Kuseyri Hübschmann 1 collaboration

Wuh-Liang Hwu 1 collaboration

Çiğdem Seher Kasapkara 1 collaboration

Manju A Kurian 1 collaboration

Katarzyna Kusmierska 1 collaboration

Ning Liu 1 collaboration

Lock Hock Ngu 1 collaboration

John D Odom 1 collaboration

Winnie Peitee Ong 1 collaboration

Mari Oppeboen 1 collaboration

Belén Pérez 1 collaboration

Roser Pons 1 collaboration

Agnieszka Magdalena Rygiel 1 collaboration

Tan Ee Shien 1 collaboration

Robert Spaull 1 collaboration

Jolanta Sykut-Cegielska 1 collaboration

Brahim Tabarki 1 collaboration

Trine Tangeraas 1 collaboration

Beat Thöny 1 collaboration

Tessa Wassenberg 1 collaboration

Yongxin Wen 1 collaboration

Yusnita Yakob 1 collaboration

Jasmine Goh Chew Yin 1 collaboration

Jiri Zeman 1 collaboration