Laura Gort

Affiliations

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.
Inborn Errors of Metabolism, Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, Faculty of Medicine and Health Science-University of Barcelona, Internal Medicine Service-Hospital Clínic of Barcelona, Spain.

Publications (17)

Leigh syndrome associated with TRMU gene mutations.

Molecular genetics and metabolism reports

Avec: Júlia Sala-Coromina , Lucía Dougherty-de Miguel , Javier de Las Heras , Amaia Lasa-Aranzasti , Elena Garcia-Arumi , Lidia Carreño , Jose Antonio Arranz , Clara Carnicer , María Unceta-Suárez , Angel Sanchez-Montañez , Laura Gort , Frederic Tort , Mireia Del Toro

Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA.

Genes

Avec: Mouna Habbane , Laura Llobet , M Pilar Bayona-Bafaluy , José E Bárcena , Leticia Ceberio , Covadonga Gómez-Díaz , Laura Gort , Rafael Artuch , Julio Montoya , Eduardo Ruiz-Pesini

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.

Molecular genetics and metabolism

Avec: Frederic Tort , Estibaliz Barredo , Ranjani Parthasarathy , Olatz Ugarteburu , Xenia Ferrer-Cortès , Judit García-Villoria , Laura Gort , Adrián González-Quintana , Miguel A Martín , Erika Fernández-Vizarra , Massimo Zeviani , Antonia Ribes

Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in

Clinical case reports

Avec: Antonio Miguel Poyatos-Andújar , Susana García-Linares , Pilar Carretero , Olga Ocon , Dolores Fresneda , Laura Gort , Francisa Sonia Molina García

Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.

Mitochondrion

Avec: Olatz Ugarteburu , Maria Teresa Garcia-Silva , Luis Aldamiz-Echevarria , Laura Gort , Judit Garcia-Villoria , Frederic Tort , Antonia Ribes

External quality assessment in the absence of proficiency testing: A split-sample testing program experience.

Clinical biochemistry

Avec: Leonor Guiñón , Judit García-Villoria , Antonia Ribes , Laura Gort , Angel Molina , Anna Soler , Ángeles Sahuquillo , Luisa Alvarez

Functional Evidence of

International journal of molecular sciences

Avec: Luisa Arrabal , Gerard Muñoz-Pujol , Inmaculada Medina Martínez , Laura Gort , Judit García-Villoria , Susana Roldán , Frederic Tort , Antonia Ribes

Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness.

Parkinsonism & related disorders

Avec: Alejandra Darling , Pilar Irún , Pilar Giraldo , Judith Armstrong , Laura Gort , Álvaro Díaz-Conradi , Delia Yubero , Alfonso Luis De Oryazábal Sanz , Aída Ormazábal , Rafael Artuch , Àngels García-Cazorla , Mar O'Callaghan

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

Annals of neurology

Avec: Agustin Hidalgo-Gutierrez , Jonathan Shintaku , Javier Ramon , Eliana Barriocanal-Casado , Alba Pesini , Russell P Saneto , Gloria Garrabou , Jose Cesar Milisenda , Ana Matas-Garcia , Laura Gort , Olatz Ugarteburu , Yue Gu , Lahari Koganti , Tian Wang , Saba Tadesse , Megi Meneri , Monica Sciacco , Shuang Wang , Kurenai Tanji , Marshall S Horwitz , Michael O Dorschner , Mahesh Mansukhani , Giacomo Pietro Comi , Dario Ronchi , Ramon Marti , Antonia Ribes , Frederic Tort , Michio Hirano

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

Human mutation

Avec: Frederic Tort , Olatz Ugarteburu , Laura Texidó , Sabrina Gea-Sorlí , Judit García-Villoria , Xènia Ferrer-Cortès , Ángela Arias , Leslie Matalonga , Laura Gort , Isidre Ferrer , Mariona Guitart-Mampel , Glòria Garrabou , Frederick M Vaz , Ana Pristoupilova , María Isabel Esteban Rodríguez , Sergi Beltran , Francesc Cardellach , Ronald Ja Wanders , Cristina Fillat , María Teresa García-Silva , Antonia Ribes

Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects.

Antioxidants (Basel, Switzerland)

Avec: Nuria Bujan , Constanza Morén , Francesc J García-García , Alberto Blázquez , Clara Carnicer , Ana Belén Cortés , Cristina González , Ester López-Gallardo , Ester Lozano , Sonia Moliner , Laura Gort , Ester Tobías , Aitor Delmiro , Miguel Ángel Martin , Miguel Ángel Fernández-Moreno , Eduardo Ruiz-Pesini , Elena Garcia-Arumí , Juan Carlos Rodríguez-Aguilera , Glòria Garrabou

Bioenergetic and Autophagic Characterization of Skin Fibroblasts from

Antioxidants (Basel, Switzerland)

Avec: Maria Isabel Alvarez-Mora , Gloria Garrabou , Tamara Barcos , Francisco Garcia-Garcia , Ruben Grillo-Risco , Emma Peruga , Laura Gort , Sergi Borrego-Écija , Raquel Sanchez-Valle , Judith Canto-Santos , Paula Navarro-Navarro , Laia Rodriguez-Revenga

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.

Journal of clinical medicine

Avec: Cristina Jou , Juan D Ortigoza-Escobar , Maria M O'Callaghan , Andres Nascimento , Alejandra Darling , Leticia Pias-Peleteiro , Belén Perez-Dueñas , Mercedes Pineda , Anna Codina , César Arjona , Judith Armstrong , Francesc Palau , Antonia Ribes , Laura Gort , Frederic Tort , Placido Navas , Eduardo Ruiz-Pesini , Sonia Emperador , Ester Lopez-Gallardo , Pilar Bayona-Bafaluy , Raquel Montero , Cecilia Jimenez-Mallebrera , Angels Garcia-Cazorla , Julio Montoya , Delia Yubero , Rafael Artuch

An incidental finding in newborn screening leading to the diagnosis of a patient with

Molecular genetics and metabolism reports

Avec: S Pajares , R M López , L Gort , A Argudo-Ramírez , J L Marín , J M González de Aledo-Castillo , J García-Villoria , J A Arranz , M Del Toro , F Tort , O Ugarteburu , M D Casellas , R Fernández , A Ribes

Implementation of second-tier tests in newborn screening for the detection of vitamin B

Orphanet journal of rare diseases

Avec: Sonia Pajares , Jose Antonio Arranz , Aida Ormazabal , Mireia Del Toro , Ángeles García-Cazorla , Aleix Navarro-Sastre , Rosa María López , Silvia María Meavilla , Mariela Mercedes de Los Santos , Camila García-Volpe , Jose Manuel González de Aledo-Castillo , Ana Argudo , Jose Luís Marín , Clara Carnicer , Rafael Artuch , Frederic Tort , Laura Gort , Rosa Fernández , Judit García-Villoria , Antonia Ribes

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.

Journal of clinical medicine

Avec: Eulàlia Segur-Bailach , Olatz Ugarteburu , Frederic Tort , Laura Texido , Celia Painous , Yaroslau Compta , Maria José Martí , Antonia Ribes , Laura Gort

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

Brain pathology (Zurich, Switzerland)

Avec: Gerard Muñoz-Pujol , Juan D Ortigoza-Escobar , Abraham J Paredes-Fuentes , Cristina Jou , Olatz Ugarteburu , Laura Gort , Delia Yubero , Angels García-Cazorla , Mar O'Callaghan , Jaume Campistol , Jordi Muchart , Vicente A Yépez , Mirjana Gusic , Julien Gagneur , Holger Prokisch , Rafael Artuch , Antonia Ribes , Roser Urreizti , Frederic Tort

Réseau de co-auteurs

Frederic Tort 10 collaborations

Antonia Ribes 10 collaborations

Olatz Ugarteburu 6 collaborations

Rafael Artuch 5 collaborations

Judit García-Villoria 5 collaborations

Clara Carnicer 3 collaborations

Eduardo Ruiz-Pesini 3 collaborations

Delia Yubero 3 collaborations

Jose Antonio Arranz 2 collaborations

Mireia Del Toro 2 collaborations

Julio Montoya 2 collaborations

Gerard Muñoz-Pujol 2 collaborations

Alejandra Darling 2 collaborations

Judith Armstrong 2 collaborations

Mar O'Callaghan 2 collaborations

Gloria Garrabou 2 collaborations

Glòria Garrabou 2 collaborations

Cristina Jou 2 collaborations

Juan D Ortigoza-Escobar 2 collaborations

Júlia Sala-Coromina 1 collaboration

Lucía Dougherty-de Miguel 1 collaboration

Javier de Las Heras 1 collaboration

Amaia Lasa-Aranzasti 1 collaboration

Elena Garcia-Arumi 1 collaboration

Lidia Carreño 1 collaboration

María Unceta-Suárez 1 collaboration

Angel Sanchez-Montañez 1 collaboration

Mouna Habbane 1 collaboration

Laura Llobet 1 collaboration

M Pilar Bayona-Bafaluy 1 collaboration

José E Bárcena 1 collaboration

Leticia Ceberio 1 collaboration

Covadonga Gómez-Díaz 1 collaboration

Estibaliz Barredo 1 collaboration

Ranjani Parthasarathy 1 collaboration

Xenia Ferrer-Cortès 1 collaboration

Adrián González-Quintana 1 collaboration

Miguel A Martín 1 collaboration

Erika Fernández-Vizarra 1 collaboration

Massimo Zeviani 1 collaboration

Antonio Miguel Poyatos-Andújar 1 collaboration

Susana García-Linares 1 collaboration

Pilar Carretero 1 collaboration

Olga Ocon 1 collaboration

Dolores Fresneda 1 collaboration

Francisa Sonia Molina García 1 collaboration

Maria Teresa Garcia-Silva 1 collaboration

Luis Aldamiz-Echevarria 1 collaboration

Judit Garcia-Villoria 1 collaboration

Leonor Guiñón 1 collaboration

Angel Molina 1 collaboration

Anna Soler 1 collaboration

Ángeles Sahuquillo 1 collaboration

Luisa Alvarez 1 collaboration

Luisa Arrabal 1 collaboration

Inmaculada Medina Martínez 1 collaboration

Susana Roldán 1 collaboration

Pilar Irún 1 collaboration

Pilar Giraldo 1 collaboration

Álvaro Díaz-Conradi 1 collaboration

Alfonso Luis De Oryazábal Sanz 1 collaboration

Aída Ormazábal 1 collaboration

Àngels García-Cazorla 1 collaboration

Agustin Hidalgo-Gutierrez 1 collaboration

Jonathan Shintaku 1 collaboration

Javier Ramon 1 collaboration

Eliana Barriocanal-Casado 1 collaboration

Alba Pesini 1 collaboration

Russell P Saneto 1 collaboration

Jose Cesar Milisenda 1 collaboration

Ana Matas-Garcia 1 collaboration

Yue Gu 1 collaboration

Lahari Koganti 1 collaboration

Tian Wang 1 collaboration

Saba Tadesse 1 collaboration

Megi Meneri 1 collaboration

Monica Sciacco 1 collaboration

Shuang Wang 1 collaboration

Kurenai Tanji 1 collaboration

Marshall S Horwitz 1 collaboration

Michael O Dorschner 1 collaboration

Mahesh Mansukhani 1 collaboration

Giacomo Pietro Comi 1 collaboration

Dario Ronchi 1 collaboration

Ramon Marti 1 collaboration

Michio Hirano 1 collaboration

Laura Texidó 1 collaboration

Sabrina Gea-Sorlí 1 collaboration

Xènia Ferrer-Cortès 1 collaboration

Ángela Arias 1 collaboration

Leslie Matalonga 1 collaboration

Isidre Ferrer 1 collaboration

Mariona Guitart-Mampel 1 collaboration

Frederick M Vaz 1 collaboration

Ana Pristoupilova 1 collaboration

María Isabel Esteban Rodríguez 1 collaboration

Sergi Beltran 1 collaboration

Francesc Cardellach 1 collaboration

Ronald Ja Wanders 1 collaboration

Cristina Fillat 1 collaboration

María Teresa García-Silva 1 collaboration

Nuria Bujan 1 collaboration

Constanza Morén 1 collaboration

Francesc J García-García 1 collaboration

Alberto Blázquez 1 collaboration

Ana Belén Cortés 1 collaboration

Cristina González 1 collaboration

Ester López-Gallardo 1 collaboration

Ester Lozano 1 collaboration

Sonia Moliner 1 collaboration

Ester Tobías 1 collaboration

Aitor Delmiro 1 collaboration

Miguel Ángel Martin 1 collaboration

Miguel Ángel Fernández-Moreno 1 collaboration

Elena Garcia-Arumí 1 collaboration

Juan Carlos Rodríguez-Aguilera 1 collaboration

Maria Isabel Alvarez-Mora 1 collaboration

Tamara Barcos 1 collaboration

Francisco Garcia-Garcia 1 collaboration

Ruben Grillo-Risco 1 collaboration

Emma Peruga 1 collaboration

Sergi Borrego-Écija 1 collaboration

Raquel Sanchez-Valle 1 collaboration

Judith Canto-Santos 1 collaboration

Paula Navarro-Navarro 1 collaboration

Laia Rodriguez-Revenga 1 collaboration

Maria M O'Callaghan 1 collaboration

Andres Nascimento 1 collaboration

Leticia Pias-Peleteiro 1 collaboration

Belén Perez-Dueñas 1 collaboration

Mercedes Pineda 1 collaboration

Anna Codina 1 collaboration

César Arjona 1 collaboration

Francesc Palau 1 collaboration

Placido Navas 1 collaboration

Sonia Emperador 1 collaboration

Ester Lopez-Gallardo 1 collaboration

Pilar Bayona-Bafaluy 1 collaboration

Raquel Montero 1 collaboration

Cecilia Jimenez-Mallebrera 1 collaboration

Angels Garcia-Cazorla 1 collaboration

S Pajares 1 collaboration

R M López 1 collaboration

L Gort 1 collaboration

A Argudo-Ramírez 1 collaboration

J L Marín 1 collaboration

J M González de Aledo-Castillo 1 collaboration

J García-Villoria 1 collaboration

J A Arranz 1 collaboration

M Del Toro 1 collaboration

F Tort 1 collaboration

O Ugarteburu 1 collaboration

M D Casellas 1 collaboration

R Fernández 1 collaboration

A Ribes 1 collaboration

Sonia Pajares 1 collaboration

Aida Ormazabal 1 collaboration

Ángeles García-Cazorla 1 collaboration

Aleix Navarro-Sastre 1 collaboration

Rosa María López 1 collaboration

Silvia María Meavilla 1 collaboration

Mariela Mercedes de Los Santos 1 collaboration

Camila García-Volpe 1 collaboration

Jose Manuel González de Aledo-Castillo 1 collaboration

Ana Argudo 1 collaboration

Jose Luís Marín 1 collaboration

Rosa Fernández 1 collaboration

Eulàlia Segur-Bailach 1 collaboration

Laura Texido 1 collaboration

Celia Painous 1 collaboration

Yaroslau Compta 1 collaboration

Maria José Martí 1 collaboration

Abraham J Paredes-Fuentes 1 collaboration

Angels García-Cazorla 1 collaboration

Jaume Campistol 1 collaboration

Jordi Muchart 1 collaboration

Vicente A Yépez 1 collaboration

Mirjana Gusic 1 collaboration

Julien Gagneur 1 collaboration

Holger Prokisch 1 collaboration

Roser Urreizti 1 collaboration