المؤلفون: Heard, JM, Vrinten, C, Schlander, M, Bellettato, CM, van Lingen, C, Scarpa, M, Matthijs, G, Nassogne, MC, Debray, FG, Roland, D, Chamova, T, Kozich, V, Pavel, J, Zenker, M, Lampe, C, Das, AM, Hennermann, J, Kolker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, AM, Morales-Conejo, M, del Toro-Riera, M, Aldamiz-Echevarria, L, Garcia-Silva, MT, Schiff, M, Gouya, L, Labrune, P, de Lonlay, P, Belmatoug, N, Germain, DP, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Ramadza, DP, Baric, I, Zigman, T, Pflieger, G, Szakszon, K, Kaposta, R, Gasperini, S, Burlina, A, Parenti, G, Strisciuglio, P, Ceccarini, G, Federico, A, Simonati, A, Tumiene, B, Huidekoper, H, van Spronsen, F, Bosch, A, Rubio-Gozalbo, ME, Visser, G, Tangeraas, T, Aarsand, A, Kiec-Wilk, B, Gaspar, AMSM, Quelhas, D, Leao-Teles, E, Azevedo, O, Silva, EMFR, Matos, LMDFD, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, MZ

المصدر: Orphanet journal of rare diseases. 15(1):3

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:143042857

المؤلفون: Quijada-Fraile, P, Arranz Canales, E, Martín-Hernández, E, Ballesta-Martínez, MJ, Guillén-Navarro, E, Pintos-Morell, G, Moltó-Abad, M, Moreno-Martínez, D, García Morillo, S, Blasco-Alonso, J, Couce, ML, Gil Sánchez, R, Cortès-Saladelafont, E, López Rodríguez, MA, García-Silva, MT, Morales Conejo, M

المصدر: Orphanet Journal of Rare Diseases , 16 , Article 464. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10137800/1/decff5ed-13ec-4e23-a383-c44405b8f3ff.pdf; https://discovery.ucl.ac.uk/id/eprint/10137800/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10137800/1/decff5ed-13ec-4e23-a383-c44405b8f3ff.pdf
https://discovery.ucl.ac.uk/id/eprint/10137800/

المؤلفون: Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Baric I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Horster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB

المصدر: Annals of Neurology, December 2017

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/244720; https://eprints.ncl.ac.uk/fulltext.aspx?url=244720/F11B7678-AFDD-478F-8FB0-B16FB2B12086.pdf&pub_id=244720

الاتاحة: https://eprints.ncl.ac.uk/244720

المؤلفون: Maas, RR, Iwanicka-Pronicka, K, Ucar, SK, Alhaddad, B, AlSayed, M, Al-Owain, MA, Al-Zaidan, HI, Balasubramaniam, S, Baric, I, Bubshait, DK, Burlina, A, Christodoulou, J, Chung, WK, Colombo, R, Darin, N, Freisinger, P, Garcia Silva, MT, Grunewald, S, Haack, TB, van Hasselt, PM, Hikmat, O, Hoerster, F, Isohanni, P, Ramzan, K, Kovacs-Nagy, R, Krumina, Z, Martin-Hernandez, E, Mayr, JA, McClean, P, De Meirleir, L, Naess, K, Ngu, LH, Pajdowska, M, Rahman, S, Riordan, G, Riley, L, Roeben, B, Rutsch, F, Santer, R, Schiff, M, Seders, M, Sequeira, S, Sperl, W, Staufner, C, Synofzik, M, Taylor, RW, Trubicka, J, Tsiakas, K, Unal, O, Wassmer, E, Wedatilake, Y, Wolff, T, Prokisch, H, Morava, E, Pronicka, E, Wevers, RA, de Brouwer, AP, Wortmann, SB

Relation: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000418389700017&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1c; Maas, R. R., Iwanicka-Pronicka, K., Ucar, S. K., Alhaddad, B., AlSayed, M., Al-Owain, M. A., Al-Zaidan, H. I., Balasubramaniam, S., Baric, I., Bubshait, D. K., Burlina, A., Christodoulou, J., Chung, W. K., Colombo, R., Darin, N., Freisinger, P., Garcia Silva, M. T., Grunewald, S., Haack, T. B. ,. Wortmann, S. B. (2017). Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. ANNALS OF NEUROLOGY, 82 (6), pp.1004-1015. https://doi.org/10.1002/ana.25110.; http://hdl.handle.net/11343/213969

الاتاحة: http://hdl.handle.net/11343/213969
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000418389700017&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1c

المؤلفون: Yubero, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Rodriguez Aguilera JC, Hargreaves IP, Navas P, Artuch R, CoQ deficiency study group, Jou C, Jimenez Mallebrera C, Nascimento A, Pérez Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé Grau A, Garcia Villoria J, Arias A, Emperador S, Ruiz Pesini E, Lopez Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González Quintana A, Delmiro A, Domínguez González C, Arenas J, García Silva MT, Martín E, Quijada P, Hernández Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez Cuesta A, Cascajo MV, Alcázar M, Brea Calvo G., TREVISSON, EVA, SALVIATI, LEONARDO

المساهمون: Yubero, Montero, R, Martín, Ma, Montoya, J, Ribes, A, Grazina, M, Trevisson, Eva, Rodriguez Aguilera, Jc, Hargreaves, Ip, Salviati, Leonardo, Navas, P, Artuch, R, CoQ deficiency study, Group, Jou, C, Jimenez Mallebrera, C, Nascimento, A, Pérez Dueñas, B, Ortez C, Ramos F, Colomer, J, O'Callaghan, M, Pineda, M, García Cazorla, A, Espinós, C, Ruiz, A, Macaya, A, Marcé Grau, A, Garcia Villoria, J, Arias, A, Emperador, S, Ruiz Pesini, E, Lopez Gallardo, E, Neergheen, V, Simões, M, Diogo, L, Blázquez, A, González Quintana, A, Delmiro, A, Domínguez González, C, Arenas, J, García Silva, Mt, Martín, E, Quijada, P, Hernández Laín, A, Morán, M, Rivas Infante, E, Ávila Polo, R, Paradas Lópe, C, Bautista Lorite, J, Martínez Fernández, Em, Cortés, Ab, Sánchez Cuesta, A, Cascajo, Mv, Alcázar, M, Brea Calvo, G.

مصطلحات موضوعية: Coenzyme Q10, mitochondrial disorders, oxidative phosphorylation, Coenzyme Q10 deficiency

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/27374853; info:eu-repo/semantics/altIdentifier/wos/WOS:000384037300007; volume:30; firstpage:51; lastpage:58; numberofpages:8; journal:MITOCHONDRION; http://hdl.handle.net/11577/3220334; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84978159513; https://www.ncbi.nlm.nih.gov/pubmed/27374853

الاتاحة: http://hdl.handle.net/11577/3220334
https://www.ncbi.nlm.nih.gov/pubmed/27374853

المؤلفون: Martín-Hernández, E, Quijada-Fraile, P, Oliveros-Leal, L, García-Silva, MT, Pérez-Cerdá, C, Baro-Fernández, M, Pérez-Alonso, V, Vivanco, JL

المصدر: JIMD Reports ; JIMD Reports - Case and Research Reports, 2012/3 ; page 73-78 ; ISSN 2192-8304 2192-8312 ; ISBN 9783642281280 9783642281297

الاتاحة: http://dx.doi.org/10.1007/8904_2012_137
http://link.springer.com/content/pdf/10.1007/8904_2012_137

المؤلفون: TIRANTI V, BRIEM E, FERRARI G, MINERI R, LAMANTEA E, MANDEL H, BALESTRI P, GARCIA SILVA MT, VOLLMER B, RINALDO P, HAHN SH, LEONARD J, RAHMAN S, DIONISI VICI C, GARAVAGLIA B, ZEVIANI M., D'ADAMO, ADAMO PIO, GASPARINI, PAOLO

المساهمون: Tiranti, V, D'Adamo, ADAMO PIO, Briem, E, Ferrari, G, Mineri, R, Lamantea, E, Mandel, H, Balestri, P, GARCIA SILVA, Mt, Vollmer, B, Rinaldo, P, Hahn, Sh, Leonard, J, Rahman, S, DIONISI VICI, C, Garavaglia, B, Gasparini, Paolo, Zeviani, M.

Relation: info:eu-repo/semantics/altIdentifier/pmid/14732903; volume:74; firstpage:239; lastpage:252; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11368/1695558; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-10744232283

الاتاحة: http://hdl.handle.net/11368/1695558

المؤلفون: Molero M, Serrano M, Ortez-Gonzalez CI, Ormazabal-Herrero A, Tondo M, Perez-Duenas B, Pérez-Dueñas B, Lopez-Laso E, Garcia-Silva MT, Pineda M, Campistol-Plana J, Garcia-Cazorla A, Artuch-Iriberri R

المصدر: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9aee3e234403c24e297ff65a9f4a3d08
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10356

المؤلفون: Artuch-Iriberri R, Garcia-Silva, MT, O'Callaghan-Gordo M, Ormazabal-Herrero A, Blazquez, A, Martin, MA, Lopez-Gallardo, E, Montoya, J, Pineda M

المصدر: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::dfabcf51083355f715b244f45ed0a99a
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21565

المؤلفون: Garcia-Silva MT, Campos Y, Ribes A, Briones P, Cabello A, Santos Borbujo J, Arenas J, Garavaglia B, BURLINA A, Rinaldo P

المساهمون: Garcia-Silva, Mt, Campos, Y, Ribes, A, Briones, P, Cabello, A, Santos Borbujo, J, Arenas, J, Garavaglia, B, Burlina, A, Rinaldo, P

Relation: journal:THE JOURNAL OF PEDIATRICS; https://hdl.handle.net/11577/3472811

الاتاحة: https://hdl.handle.net/11577/3472811

المؤلفون: Garcia Silva, Mt, Izquierdo Martinez, M., Beloqui Ruiz, O.

المصدر: The Lancet ; volume 343, issue 8904, page 1039 ; ISSN 0140-6736

الاتاحة: http://dx.doi.org/10.1016/s0140-6736(94)90159-7
https://api.elsevier.com/content/article/PII:S0140673694901597?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0140673694901597?httpAccept=text/plain

المؤلفون: Garcia-Silva, Mt, Campos, Y, Ribes, A, Briones, P, Cabello, A, Santos Borbujo, J, Arenas, J, Garavaglia, B, Burlina, A, Rinaldo, P

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3657::abbdca1087f35f75e37f08c2c78430d6
https://hdl.handle.net/11577/3472811

المؤلفون: García-Jiménez, M. C., Baldellou, A., García-Silva, M. T., Dalmau-Serra, J., García-Cazorla, A., Gómez-López, L., Pedrón Giner, C., Alonso Luengo, O., Peña Quintana, L., Luz Couce, M., Martínez-Pardo, M., Lambruschini, N.

المساهمون: 57209227808, 8883492300, 6701819022, 35496557600, 7003850531, 35512818300, 14828883000, 6602499591, 7801576630, 6603266503, 7003683107, 7003570900, 6701757287, 2564937, 2248255, 246549, 26015330, 34850613, 8505855, 3270389, 12156701, 1012004, 4394206, 1541064, 982055, WOS:Garcia-Jimenez, MC, WOS:Baldellou, A, WOS:Garcia-Silva, MT, WOS:Dalmau-Serra, J, WOS:Garcia-Cazorla, A, WOS:Gomez-Lopez, L, WOS:Giner, CP, WOS:Luengo, OA, WOS:Quintana, LP, WOS:Couce, ML, WOS:Martinez-Pardo, M, WOS:Lambruschini, N, BU-MED

المصدر: Anales de Pediatria[ISSN 1695-4033],v. 76(3), p. 133-139 (Marzo 2012)

مصطلحات موضوعية: 32 Ciencias médicas, 320110 Pediatría, Aminoácidos azufrados, Epidemiología homocistinuria, Homocistinuria

Relation: Anales de Pediatria; 76; http://hdl.handle.net/10553/49368; 84858078063; 000301969100004; Sí

الاتاحة: http://hdl.handle.net/10553/49368
https://doi.org/10.1016/j.anpedi.2011.08.008

المؤلفون: Shamima Rahman, Barbara Garavaglia, Paolo Balestri, Eleonora Lamantea, Rossana Mineri, Pio D'Adamo, Brigitte Vollmer, Piero Rinaldo, James V. Leonard, Si Houn Hahn, Carlo Dionisi-Vici, Paolo Gasparini, Hanna Mandel, Egill Briem, Maria Teresa Garcia-Silva, Valeria Tiranti, Gianfrancesco Ferrari, Massimo Zeviani

المساهمون: Tiranti, V, D'Adamo, ADAMO PIO, Briem, E, Ferrari, G, Mineri, R, Lamantea, E, Mandel, H, Balestri, P, GARCIA SILVA, Mt, Vollmer, B, Rinaldo, P, Hahn, Sh, Leonard, J, Rahman, S, DIONISI VICI, C, Garavaglia, B, Gasparini, Paolo, Zeviani, M.

المصدر: Web of Science
ResearcherID
Karolinska Institutet

مصطلحات موضوعية: Male, Nucleocytoplasmic Transport Proteins, Genetic Linkage, Cells, Blotting, Western, Molecular Sequence Data, Fluorescent Antibody Technique, Sequence Homology, Biology, Mitochondrion, Chromosomes, Mitochondrial Proteins, Ethylmalonic encephalopathy, medicine, Genetics, Humans, Genetics(clinical), Amino Acid Sequence, Peptide sequence, Gene, Brain Diseases, Cells, Cultured, Chromosome Mapping, Chromosomes, Human, Pair 19, Female, Infant, Malonates, Metabolism, Inborn Errors, Pedigree, Sequence Homology, Amino Acid, Mutation, Genetics (clinical), Cultured, Pair 19, Blotting, Inborn Errors, Sulfur dioxygenase, Articles, medicine.disease, Disease gene identification, Amino Acid, Metabolism, Mitochondrial matrix, ETHE1, Western, Human

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e73e635522694762d14a4b9c310c640
https://publons.com/wos-op/publon/27130189/