부산대학교 도서관

R. Baviera-Muñoz; T. Jaijo; M. Campins-Romeu; I. Martínez-Torres; I. Sastre-Bataller

Neurología (English Edition), Vol 40, Iss 9, Pp 924-925 (2025)

Carretero-Vilarroig L; Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, Valencia, Spain.; Sivera R; Neuromuscular Diseases Unit, Neurology Department, La Fe University and Polytechnic Hospital, Valencia, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD), Valencia, Spain.; Medicine Department, Universidad CEU-Cardenal Herrera, Valencia, Spain.; Baviera R; Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, Valencia, Spain.; Neurology Department, Consorcio Hospital General Universitario de Valencia, Valencia, Spain.; Espinós C; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Department of Genetics, Universitat de València, Valencia, Spain.; INCLIVA Biomedical Research Institute, Valencia, Spain.; Muelas N; Neuromuscular Diseases Unit, Neurology Department, La Fe University and Polytechnic Hospital, Valencia, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD), Valencia, Spain.; Department of Medicine, University of València, Valencia, Spain.; Vazquez-Costa JF; Neuromuscular Diseases Unit, Neurology Department, La Fe University and Polytechnic Hospital, Valencia, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD), Valencia, Spain.; Department of Medicine, University of València, Valencia, Spain.; Aller E; Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, Valencia, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Unit of Genetics, La Fe University and Polytechnic Hospital, Valencia, Spain.; Bataller L; INCLIVA Biomedical Research Institute, Valencia, Spain.; Instituto Valenciano de Oncología-IVO, Valencia, Spain.; Jaijo T; Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, Valencia, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Unit of Genetics, La Fe University and Polytechnic Hospital, Valencia, Spain.

Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Carretero-Vilarroig L; Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, Valencia, Spain.; Biotechnology PhD Programme, Universidad Politécnica de Valencia, Valencia, Spain.; Blanco-Máñez R; Electron Microscopy Unit, Anatomical Pathology, La Fe Health Research Institute, Valencia, Spain.; Muñoz-Fernández N; Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, Valencia, Spain.; ENT Department, La Fe University and Polytechnic Hospital, Valencia, Spain.; Ibáñez I; Pediatric ENT Department, La Fe Health Research Institute, Valencia, Spain.; Berzal-Serrano A; Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, Valencia, Spain.; Reula A; Biomedical Sciences Department, CEU-Cardenal Herrera University, Castellón, Spain.; García-Bohórquez B; Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, Valencia, Spain.; Aller E; Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, Valencia, Spain.; Unit of Genetics, La Fe University and Polytechnic Hospital, Av. Fernando Abril Martorell, 106, Torre A 4ªplanta, 46026, Valencia, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; García-García G; Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, Valencia, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Millán JM; Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, Valencia, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Armengot-Carceller M; Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, Valencia, Spain.; ENT Department, La Fe University and Polytechnic Hospital, Valencia, Spain.; University of Valencia, Valencia, Spain.; Jaijo T; Cellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, Valencia, Spain. jaijo_ter@gva.es.; Unit of Genetics, La Fe University and Polytechnic Hospital, Av. Fernando Abril Martorell, 106, Torre A 4ªplanta, 46026, Valencia, Spain. jaijo_ter@gva.es.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. jaijo_ter@gva.es.

Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 101264260 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-2000 (Electronic) Linking ISSN: 11771062 NLM ISO Abbreviation: Mol Diagn Ther Subsets: MEDLINE

Barberán-Martínez P; Molecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain; Programa de Doctorat en Biotecnologia, Polytechnic University of Valencia (UPV), Valencia, Spain.; Balanzá M; Molecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain; Programa de Doctorat en Biotecnologia, Polytechnic University of Valencia (UPV), Valencia, Spain.; García-Bohórquez B; Molecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain.; Escobar-Parra S; Molecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain.; García-Gil R; Department of Ophthalmology, La Fe University and Polytechnic Hospital, Valencia, Spain.; Feliciano-Sánchez A; Department of Ophthalmology, La Fe University and Polytechnic Hospital, Valencia, Spain.; Jaijo T; Molecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Genetics, La Fe University and Polytechnic Hospital, Valencia, Spain.; Aller E; Molecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Genetics, La Fe University and Polytechnic Hospital, Valencia, Spain.; García-García G; Molecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Electronic address: gema_garcia@iislafe.es.; Millán JM; Molecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain; Joint Unit CIPF-IIS La Fe Molecular, Cellular, and Genomic Biomedicine, Valencia, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Electronic address: jose_millan@iislafe.es.

Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

Campins-Romeu, M; Baviera-Munoz, R; Sastre-Bataller, I; Bataller, L; Jaijo, T; Martinez-Torres, I

Movement Disorders Clinical Practice
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Baviera-Muñoz R; Neurology Department, Hospital Universitari I Politècnic La Fe, Valencia, Spain.; Cellular, Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain.; Carretero-Vilarroig L; Cellular, Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.; Pedro-Ibor A; Cellular, Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.; Jaijo T; Cellular, Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain.; Department of Genetics, Hospital Universitari I Politècnic La Fe, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Del Valle-Carranza A; Cellular, Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.; Martínez-Torres I; Neurology Department, Hospital Universitari I Politècnic La Fe, Valencia, Spain.; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain.; Millán JM; Cellular, Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Bataller L; Neurology Department, Hospital Universitari I Politècnic La Fe, Valencia, Spain.; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.; Department of Medicine, University of Valencia, Valencia, Spain.; Aller E; Cellular, Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain.; Department of Genetics, Hospital Universitari I Politècnic La Fe, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Perea-Romero I.; Gordo G.; Iancu I. F.; Del Pozo-Valero M.; Almoguera B.; Blanco-Kelly F.; Carreno E.; Jimenez-Rolando B.; Lopez-Rodriguez R.; Lorda-Sanchez I.; Martin-Merida I.; Perez de Ayala L.; Riveiro-Alvarez R.; Rodriguez-Pinilla E.; Tahsin-Swafiri S.; Trujillo-Tiebas M. J.; Bustamante-Aragones A.; Cardero-Merlo R.; Fernandez-Sanchez R.; Gallego-Merlo J.; Garcia-Vara I.; Gimenez-Pardo A.; Horcajada-Burgos L.; Infantes-Barbero F.; Lantero E.; Lopez-Martinez M. A.; Martinez-Ramas A.; Ondo L.; Rodriguez de Alba M.; Sanchez-Jimeno C.; Velez-Monsalve C.; Villaverde C.; Zurita O.; Aguilera-Garcia D.; Aguirre-Lamban J.; Arteche A.; Cantalapiedra D.; Fernandez-San Jose P.; Galbis-Martinez L.; Garcia-Hoyos M.; Lombardia C.; Lopez-Molina M. I.; Perez-Carro R.; Da Silva L. R. J.; Ramos C.; Sanchez-Alcudia R.; Sanchez-Navarro I.; Tatu S. D.; Vallespin E.; Aller E.; Bernal S.; Gamundi M. J.; Garcia-Garcia G.; Hernan I.; Jaijo T.; Antinolo G.; Baiget M.; Carballo M.; Millan J. M.; Valverde D.; Allikmets R.; Banfi S.; Cremers F. P. M.; Collin R. W. J.; De Baere E.; Hakonarson H.; Kohl S.; Rivolta C.; Sharon D.; Alonso-Cerezo M. C.; Ballesta-Martinez M. J.; Beltran S.; Benito Lopez C.; Catala-Mora J.; Catalli C.; Cotarelo-Perez C.; Fernandez-Burriel M.; Fontalba-Romero A.; Galan-Gomez E.; Garcia-Barcina M.; Garcia-Cruz L. M.; Gener B.; Gil-Fournier B.; Govea N.; Guillen-Navarro E.; Hernando Acero I.; Irigoyen C.; Izquierdo-Alvarez S.; Llano-Rivas I.; Lopez-Ariztegui M. A.; Lopez-Gonzalez V.; Lopez-Grondona F.; Martorell L.; Mendez-Perez P.; Moreno-Igoa M.; Oancea-Ionescu R.; Palau-Martinez F.; Perez de Nanclares G.; Ramos-Fuentes F. J.; Rodriguez-Lopez R.; Rodriguez-Pedreira M.; Rodriguez-Pena L.; Rodriguez-Sanchez B.; Rosell J.; Rosello N.; Saez-Villaverde R.; Santana A.; Valenzuela-Palafoll I.; Villota-Deleu E.; Garcia-Sandoval B.; Minguez P.; Avila-Fernandez A.; Corton M.; Ayuso C.

Sci Rep
Digital.CSIC. Repositorio Institucional del CSIC
instname
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Zaguán: Repositorio Digital de la Universidad de Zaragoza
Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Scientific Reports
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
Biblos-e Archivo. Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Scientific Reports, 11, 1
SCIENTIFIC REPORTS

Ceballos F; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Serrano-Lorenzo P; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Bermejo-Guerrero L; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Blázquez A; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Quesada-Espinosa JF; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Amigo J; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Minguez P; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Ayuso C; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; García-Arumí E; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Muelas N; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Jaijo T; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Nascimento A; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Galán-Rodriguez B; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Paradas C; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Arenas J; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Carracedo A; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Martí R; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Martín MA; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.; Domínguez-González C; From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Baviera-Munoz, R.; Jaijo, T.; Campins-Romeu, M.; Martinez-Torres, I; Sastre-Bataller, I

NEUROLOGIA; NOV-DEC 2025, 40 9, p924-p925, 2p.

Natera-de Benito, D. ; Domínguez-Carral, J. ; Muelas, N. ; Nascimento, A. ; Ortez, C. ; Jaijo, T. ; Arteaga, R. ; Colomer, J. ; Vilchez, J.J.

In Neuromuscular Disorders November 2016 26(11):789-795

Armengot M; Department of Otorhinolaryngology, Hospital Universitari i Politècnic La Fe, 46026 Valencia, Spain.; Department of Surgery, Faculty of Medicine and Dentistry, University of Valencia, 46010 Valencia, Spain.; Center for Biomedical Network Research on Rare Diseases CIBERER), Carlos III Health Institute, 46026 Valencia, Spain.; Bancalari C; Department of Otorhinolaryngology, Hospital Universitari i Politècnic La Fe, 46026 Valencia, Spain.; Carretero-Vilarroig L; Molecular, Cellular and Genomic Biomedicine Group (BMCG), IIS La Fe, 46026 Valencia, Spain.; Blanco-Máñez R; Department of Pathology, University and Polytechnic Hospital La Fe, 46026 Valencia, Spain.; Muñoz-Fernández N; Department of Otorhinolaryngology, Hospital Universitari i Politècnic La Fe, 46026 Valencia, Spain.; Cases E; Department of Pulmonology, University and Polytechnic Hospital La Fe, 46026 Valencia, Spain.; Millán JM; Molecular, Cellular and Genomic Biomedicine Group (BMCG), IIS La Fe, 46026 Valencia, Spain.; Almanzo S; Department of Otorhinolaryngology, Hospital Universitari i Politècnic La Fe, 46026 Valencia, Spain.; Department of Surgery, Faculty of Medicine and Dentistry, University of Valencia, 46010 Valencia, Spain.; Jaijo T; Molecular, Cellular and Genomic Biomedicine Group (BMCG), IIS La Fe, 46026 Valencia, Spain.; Genetics Unit, University and Polytechnic Hospital La Fe, 46026 Valencia, Spain.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE

García-Bohórquez, B.; Barberán-Martínez, P.; Aller, E.; Jaijo, T.; Mínguez, P.; Rodilla, C.; Fernández-Caballero, L.; Blanco-Kelly, F.; Ayuso, C.; Sanchis-Juan, A.; Broekman, S.; de Vrieze, E.; van WIjk, E.; García-García, G.; Millán, J.M.

Molecular Therapy-Nucleic Acids

Garcia-Llorens G; Unidad de Hepatología Experimental y Trasplante Hepático, Instituto de Investigación Sanitaria La Fe, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain.; Biochemistry and Molecular Biology Department, Universidad de Valencia, 46026 Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Lopez-Navarro S; Unidad de Hepatología Experimental y Trasplante Hepático, Instituto de Investigación Sanitaria La Fe, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain.; Jaijo T; Molecular, Cellular and Genomic Biomedicine, Instituto de Investigación Sanitaria La Fe, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain.; Castell JV; Unidad de Hepatología Experimental y Trasplante Hepático, Instituto de Investigación Sanitaria La Fe, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain.; Biochemistry and Molecular Biology Department, Universidad de Valencia, 46026 Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Bort R; Unidad de Hepatología Experimental y Trasplante Hepático, Instituto de Investigación Sanitaria La Fe, Hospital Universitario y Politecnico La Fe, 46026 Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Instituto de Salud Carlos III, 28029 Madrid, Spain.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101602269 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4426 (Print) Linking ISSN: 20754426 NLM ISO Abbreviation: J Pers Med Subsets: PubMed not MEDLINE

Berzal-Serrano, A.; García-Bohórquez, B.; Aller, E.; Jaijo, T.; García-García, G.; Millán, J.M.; Pitarch-Castellano, I.; Rausell, D.

In: International Journal of Neonatal Screening. (International Journal of Neonatal Screening, March 2025, 11(1))

Sevilla T; Martínez-Rubio D; Márquez C; Paradas C; Colomer J; Jaijo T; Millán JM; Palau F; Espinós C

CLINICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)

Jaijo T; Aller E; Aparisi MJ; García-García G; Hernan I; Gamundi MJ; Nájera C; Carballo M; Millán JM

CLINICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)

Baviera-Muñoz R; Campins-Romeu M; Carretero-Vilarroig L; Sastre-Bataller I; Martínez-Torres I; Vázquez-Costa JF; Muelas N; Sevilla T; Vílchez JJ; Aller E; Jaijo T; Bataller L; Espinós C

JOURNAL OF THE NEUROLOGICAL SCIENCES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
instname
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Consejo Superior de Investigaciones Científicas (CSIC)
Centro de Investigación Principe Felipe (CIPF)

Oshima, A.; Jaijo, T.; Aller, E.; Millan, J. M.; Carney, C.; Usami, S.; Möller, Claes, 1950; Kimberling, W. J.

Human Mutation. 29(6):E37-E46

Aller E; Jaijo T; Beneyto M; Nájera C; Morera C; Pérez-Garrigues H; Ayuso C; Millán J

OPHTHALMIC GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)

Vázquez-Costa JF; Neuromuscular Unit and ERN-NMD Group, Department of Neurology, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, Valencia, Spain.; Department of Medicine, University of Valencia, Valencia, Spain.; Payá-Montes M; Neuromuscular Unit and ERN-NMD Group, Department of Neurology, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Martínez-Molina M; Neuromuscular Unit and ERN-NMD Group, Department of Neurology, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Jaijo T; Centro de Investigación Biomédica en Red de Enfermedades Raras, Valencia, Spain.; Genetics Department, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Szymanski J; Molecular Genetics Unit, Institut de Biomedicina de València-CSIC, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Valencia, Spain.; Mazón M; Department of Radiology and Biomedical Imaging Research Group GIBI230, Hospital Universitario y Politécnico La Fe and Instituto de Investigación Sanitaria La Fe, Valencia, Spain.; Sopena-Novales P; Nuclear Medicine Department, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Pérez-Tur J; Molecular Genetics Unit, Institut de Biomedicina de València-CSIC, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Valencia, Spain.; Mixed Unit of Neurology and Genetics, Instituto de Investigación Sanitaria La Fe, València, Spain.; Sevilla T; Neuromuscular Unit and ERN-NMD Group, Department of Neurology, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, Valencia, Spain.; Department of Medicine, University of Valencia, Valencia, Spain.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477914 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5099 (Print) Linking ISSN: 16625099 NLM ISO Abbreviation: Front Mol Neurosci Subsets: PubMed not MEDLINE