Works by Gort, Laura

Results: 35

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

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1700, doi. 10.1002/humu.23779

By:

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

Publication type:

Article

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 139, doi. 10.1002/humu.22923

By:

Zampieri, Stefania;
Filocamo, Mirella;
Pianta, Annalisa;
Lualdi, Susanna;
Gort, Laura;
Coll, Maria Jose;
Sinnott, Richard;
Geberhiwot, Tarekegn;
Bembi, Bruno;
Dardis, Andrea

Publication type:

Article

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C ( cblC) with homocystinuria (MMACHC).

Published in:

Human Mutation, 2009, v. 30, n. 11, p. 1558, doi. 10.1002/humu.21107

By:

Richard, Eva;
Jorge-Finnigan, Ana;
Garcia-Villoria, Judit;
Merinero, Begoña;
Desviat, Lourdes R.;
Gort, Laura;
Briones, Paz;
Leal, Fátima;
Pérez-Cerdá, Celia;
Ribes, Antonia;
Ugarte, Magdalena;
Pérez, Belén

Publication type:

Article

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. 1117, doi. 10.1002/humu.21018

By:

Rodríguez-Pascau, Laura;
Gort, Laura;
Schuchman, Edward H.;
Vilageliu, Lluïsa;
Grinberg, Daniel;
Chabás, Amparo

Publication type:

Article

Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation.

Published in:

Human Mutation, 2000, v. 16, n. 4, p. 375, doi. 10.1002/1098-1004(200010)16:4<375::AID-HUMU21>3.0.CO;2-C

By:

Gort, Laura;
Coll, M. Josep;
Chabás, Amparo

Publication type:

Article

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

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 1, p. 68, doi. 10.3390/jcm8010068

By:

Jou, Cristina;
Ortigoza-Escobar, Juan D.;
O'Callaghan, Maria M.;
Nascimento, Andres;
Darling, Alejandra;
Pias-Peleteiro, Leticia;
Perez-Dueñas, Belén;
Pineda, Mercedes;
Codina, Anna;
Arjona, César;
Armstrong, Judith;
Palau, Francesc;
Ribes, Antonia;
Gort, Laura;
Tort, Frederic;
Navas, Placido;
Ruiz-Pesini, Eduardo;
Emperador, Sonia;
Lopez-Gallardo, Ester;
Bayona-Bafaluy, Pilar

Publication type:

Article

Nonsurgical Strategies in Patients With NET Liver Metastases: A Protocol of Four Systematic Reviews.

Published in:

Journal of Medical Internet Research, 2014, v. 16, n. 3, p. 1, doi. 10.2196/resprot.2893

By:

Limani, Perparim;
Tschuor, Christoph;
Gort, Laura;
Balmer, Bettina;
Gu, Alexander;
Ceresa, Christos;
Raptis, Dimitri Aristotle;
Lesurtel, Mickael;
Puhan, Milo;
Breitenstein, Stefan

Publication type:

Article

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

Published in:

Genes, 2020, v. 11, n. 9, p. 1007, doi. 10.3390/genes11091007

By:

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

Publication type:

Article

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1353, doi. 10.1038/ejhg.2010.118

By:

García-Villoria, Judit;
Gort, Laura;
Madrigal, Irene;
Fons, Carme;
Fernández, Cristina;
Navarro-Sastre, Aleix;
Milà, Montserrat;
Briones, Paz;
García-Cazorla, Angeles;
Campistol, Jaume;
Ribes, Antonia

Publication type:

Article

Non-cardiac chest pain patients in the emergency department: Do physicians have a plan how to diagnose and treat them? A retrospective study.

Published in:

PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0211615

By:

Wertli, Maria M.;
Dangma, Tenzin D.;
Müller, Sarah E.;
Gort, Laura M.;
Klauser, Benjamin S.;
Melzer, Lina;
Held, Ulrike;
Steurer, Johann;
Hasler, Susann;
Burgstaller, Jakob M.

Publication type:

Article

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

Published in:

Brain Pathology, 2023, v. 33, n. 3, p. 1, doi. 10.1111/bpa.13134

By:

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

Publication type:

Article

Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene.

Published in:

Clinical Case Reports, 2021, v. 9, n. 2, p. 790, doi. 10.1002/ccr3.3644

By:

Poyatos‐Andújar, Antonio Miguel;
García‐Linares, Susana;
Carretero, Pilar;
Ocon, Olga;
Fresneda, Dolores;
Gort, Laura;
Molina García, Francisa Sonia

Publication type:

Article

Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report.

Published in:

Pediatric Transplantation, 2018, v. 22, n. 7, p. N.PAG, doi. 10.1111/petr.13278

By:

Sisinni, Luisa;
Pineda, Mercedes;
Coll, Maria Josep;
Gort, Laura;
Turon, Eulalia;
Torrent, Montserrat;
Ey, Anna;
Tobajas, Eva;
Badell, Isabel

Publication type:

Article

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 1, p. 281, doi. 10.1093/hmg/ddt507

By:

Tiscornia, Gustavo;
Lorenzo Vivas, Erika;
Matalonga, Leslie;
Berniakovich, Ina;
Barragán Monasterio, Montserrat;
Eguizábal, Cristina;
Gort, Laura;
González, Federico;
Ortiz Mellet, Carmen;
García Fernández, José Manuel;
Ribes, Antonia;
Veiga, Anna;
Izpisua Belmonte, Juan Carlos

Publication type:

Article

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 633, doi. 10.1093/hmg/dds471

By:

Tiscornia, Gustavo;
Lorenzo Vivas, Erika;
Matalonga, Leslie;
Berniakovich, Ina;
Barragán Monasterio, Montserrat;
Eguizábal, Cristina;
Gort, Laura;
González, Federico;
Ortiz Mellet, Carmen;
García Fernández, José Manuel;
Ribes, Antonia;
Veiga, Anna;
Izpisua Belmonte, Juan Carlos

Publication type:

Article

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Published in:

2016

By:

Ortigoza-Escobar, Juan Darío;
Molero-Luis, Marta;
Arias, Angela;
Oyarzabal, Alfonso;
Darín, Niklas;
Serrano, Mercedes;
Garcia-Cazorla, Angels;
Tondo, Mireia;
Hernández, María;
Garcia-Villoria, Judit;
Casado, Mercedes;
Gort, Laura;
Mayr, Johannes A.;
Rodríguez-Pombo, Pilar;
Ribes, Antonia;
Artuch, Rafael;
Pérez-Dueñas, Belén

Publication type:

journal article

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

Published in:

Annals of Neurology, 2024, v. 96, n. 6, p. 1209, doi. 10.1002/ana.27071

By:

Hidalgo‐Gutierrez, Agustin;
Shintaku, Jonathan;
Ramon, Javier;
Barriocanal‐Casado, Eliana;
Pesini, Alba;
Saneto, Russell P.;
Garrabou, Gloria;
Milisenda, Jose Cesar;
Matas‐Garcia, Ana;
Gort, Laura;
Ugarteburu, Olatz;
Gu, Yue;
Koganti, Lahari;
Wang, Tian;
Tadesse, Saba;
Meneri, Megi;
Sciacco, Monica;
Wang, Shuang;
Tanji, Kurenai;
Horwitz, Marshall S.

Publication type:

Article

Natural history of Sanfilippo syndrome in Spain.

Published in:

2013

By:

Delgadillo, Verónica;
O'Callaghan, Maria del;
Gort, Laura;
Coll, Maria Josep;
Pineda, Mercedes;
O'Callaghan, Maria del Mar

Publication type:

journal article

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.

Published in:

2012

By:

Giraldo, Pilar;
Alfonso, Pilar;
Irún, Pilar;
Gort, Laura;
Chabás, Amparo;
Vilageliu, Lluïsa;
Grinberg, Daniel;
Sá Miranda, Clara M;
Pocovi, Miguel

Publication type:

journal article

Small molecules as therapeutic agents for inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 177, doi. 10.1007/s10545-016-0005-3

By:

Matalonga, Leslie;
Gort, Laura;
Ribes, Antonia

Publication type:

Article

Treatment effect of coenzyme Q and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 439, doi. 10.1007/s10545-013-9668-1

By:

Matalonga, Leslie;
Arias, Angela;
Coll, María;
Garcia-Villoria, Judit;
Gort, Laura;
Ribes, Antonia

Publication type:

Article

Reply to He et al.

Published in:

2011

By:

García-Villoria, Judit;
Gort, Laura;
Madrigal, Irene;
Fons, Carme;
Fernández, Cristina;
Navarro-Sastre, Aleix;
Mila, M.;
Briones, Paz;
García-Cazorla, M. Angeles;
Campistol, Jaume;
Ribes, Antonia

Publication type:

Letter

Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 12, p. 1139, doi. 10.1002/pd.3972

By:

Gort, Laura;
Granell, M. Reyes;
Fernández, Gema;
Carreto, Práxedes;
Sanchez, Aurora;
Coll, M. José

Publication type:

Article

Late Infantile Neuronal Ceroid Lipofuscinosis: Mutations in the CLN2 Gene and Clinical Course in Spanish Patients.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 4, p. 470, doi. 10.1177/0883073812448459

By:

Pérez-Poyato, María S.;
Marfa, Mercé Pineda;
Abizanda, Isidre Ferrer;
Rodriguez-Revenga, Laia;
Sánchez, Victoria Cusí;
González, María J Martínez;
Puñal, Jesús Eiris;
Pérez, Alfonso Verdú;
González, M Mar García;
Bermejo, Antonio Martínez;
Hernández, Elena Martín;
Rosell, M Josep Coll;
Gort, Laura;
Milá, Montserrat

Publication type:

Article

A Novel AIFM1‐Related Disorder Phenotype Treated with Deep Brain Stimulation.

Published in:

Movement Disorders, 2024, v. 39, n. 1, p. 215, doi. 10.1002/mds.29616

By:

Pijuan, Jordi;
Sevrioukova, Irina F.;
García‐Campos, Óscar;
Hernaez, Mar;
Gort, Laura;
Gómez‐Chiari, Marta;
Jou, Cristina;
Candela‐Cantó, Santiago;
Rumiá, Jordi;
Artuch, Rafael;
Palau, Francesc;
Hoenicka, Janet;
Ortigoza‐Escobar, Juan Dario

Publication type:

Article

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

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 6, p. 1749, doi. 10.3390/jcm11061749

By:

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

Publication type:

Article

Implementation of second-tier tests in newborn screening for the detection of vitamin B<sub>12</sub> related acquired and genetic disorders: results on 258,637 newborns.

Published in:

2021

By:

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

Publication type:

journal article

Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02793-4

By:

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

Publication type:

Article

Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12319, doi. 10.3390/ijms241512319

By:

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

Publication type:

Article

Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype-phenotype correlation studies in spanish metachromatic leukodystrophy patients.

Published in:

Human Mutation, 1999, v. 14, n. 3, p. 240, doi. 10.1002/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO;2-L

By:

Gort, Laura;
Coll, M. Josep;
Chabás, Amparo

Publication type:

Article

Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 295, doi. 10.1002/(SICI)1098-1004(1998)11:4<295::AID-HUMU7>3.0.CO;2-6

By:

Cormand, Bru;
Grinberg, Daniel;
Gort, Laura;
Chabás, Amparo;
Vilageliu, Lluïsa

Publication type:

Article

Analysis of five mutations in 20 mucopolysaccharidosis type I patients: High prevalence of the W402X mutation.

Published in:

Human Mutation, 1998, v. 11, n. 4, p. 332, doi. 10.1002/(SICI)1098-1004(1998)11:4<332::AID-HUMU16>3.0.CO;2-P

By:

Gort, Laura;
Chabás, Amparo;
Coll, M. Josep

Publication type:

Article

Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with hunter disease.

Published in:

Human Mutation, 1998, v. 11, p. S66, doi. 10.1002/humu.1380110123

By:

Gort, Laura;
Coll, M. Josep;
Chabás, Amparo

Publication type:

Article

Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients.

Published in:

Antioxidants, 2022, v. 11, n. 6, p. 1129, doi. 10.3390/antiox11061129

By:

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

Publication type:

Article

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

Published in:

Antioxidants, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/antiox11040741

By:

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

Publication type:

Article