المؤلفون: Marchet, S, Invernizzi, F, Blasevich, F, Bruno, V, Dusi, S, Venco, P, Fiorillo, C, Baranello, G, Pallotti, F, Lamantea, E, Mora, M, Tiranti, V, Lamperti, C

المصدر: Mitochondrion , 47 pp. 24-29. (2019)

مصطلحات موضوعية: CHKB, JC-1, Megaconial CMD, Membrane phospholipids, Mitochondria

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10073868/7/Baranello_Alteration%20of%20mitochondrial%20membrane%20inner%20potential%20in%20three%20Italian%20patients%20with%20megaconial%20congenital%20muscular%20dystrophy_AAM2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10073868Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10073868/7/Baranello_Alteration%20of%20mitochondrial%20membrane%20inner%20potential%20in%20three%20Italian%20patients%20with%20megaconial%20congenital%20muscular%20dystrophy_AAM2.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10073868Test/

المؤلفون: CESAREO, MASSIMO, MARTUCCI, ALESSIO, SORGE, ROBERTO PIETRO, RICCI, FEDERICO, CUSUMANO, ANDREA, NUCCI, CARLO, Ciuffoletti, E, Sebastiani, J, Lamantea, E, Garavaglia, B, Brancati, F.

المساهمون: Cesareo, M, Ciuffoletti, E, Martucci, A, Sebastiani, J, Sorge, Rp, Lamantea, E, Garavaglia, B, Ricci, F, Cusumano, A, Nucci, C, Brancati, F

مصطلحات موضوعية: Settore MED/30 - MALATTIE APPARATO VISIVO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28358911; info:eu-repo/semantics/altIdentifier/wos/WOS:000399174800054; volume:12; issue:3; journal:PLOS ONE; http://hdl.handle.net/2108/179526Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85016765847

الإتاحة: https://doi.org/10.1371/journal.pone.0174560Test
http://hdl.handle.net/2108/179526Test

المؤلفون: Nasca A., Rizza T., Doimo M., Legati A., Ciolfi A., Diodato D., Calderan C., Carrara G., Lamantea E., Aiello C., Di Nottia M., Niceta M., Lamperti C., Ardissone A., Bianchi-Marzoli S., Iarossi G., Bertini E., Moroni I., Tartaglia M., Salviati L., Carrozzo R., Ghezzi D.

المساهمون: Nasca, A., Rizza, T., Doimo, M., Legati, A., Ciolfi, A., Diodato, D., Calderan, C., Carrara, G., Lamantea, E., Aiello, C., Di Nottia, M., Niceta, M., Lamperti, C., Ardissone, A., Bianchi-Marzoli, S., Iarossi, G., Bertini, E., Moroni, I., Tartaglia, M., Salviati, L., Carrozzo, R., Ghezzi, D.

مصطلحات موضوعية: Encephalopathy, Mitochondrial disorder, OPA1, Optic atrophy, Recessive trait, Targeted resequencing, WES, Blotting, Western, Brain Disease, Child, Preschool, Electrophysiology, GTP Phosphohydrolase, Human, Infant, Male, Microscopy, Fluorescence, Mutation, Autosomal Dominant, Tomography, Optical Coherence, Whole Exome Sequencing

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28494813; info:eu-repo/semantics/altIdentifier/wos/WOS:000401180700002; volume:12; issue:1; firstpage:1; lastpage:10; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11577/3405079Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018923242

الإتاحة: https://doi.org/10.1186/s13023-017-0641-1Test
http://hdl.handle.net/11577/3405079Test

المؤلفون: Moscatelli M., Ardissone A., Lamantea E., Zorzi G., Bruno C., Moroni I., Erbetta A., Chiapparini L.

المساهمون: Moscatelli, M., Ardissone, A., Lamantea, E., Zorzi, G., Bruno, C., Moroni, I., Erbetta, A., Chiapparini, L.

مصطلحات موضوعية: Kearns-Sayre syndrome, Leukodystrophy, Mitochondrial disease, MRI, Spinal cord

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000742571200001; volume:43; firstpage:2081; lastpage:2084; numberofpages:4; journal:NEUROLOGICAL SCIENCES; https://hdl.handle.net/11567/1143495Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85123115339

الإتاحة: https://doi.org/10.1007/s10072-022-05881-8Test
https://hdl.handle.net/11567/1143495Test

المؤلفون: Repp, B.M. (Birgit M.), Mastantuono, E. (Elisa), Alston, C.L. (Charlotte L.), Schiff, M. (Manuel), Haack, T.B. (Tobias B.), Rötig, A. (Agns), Ardissone, A. (Anna), Lombès, A. (Anne), Catarino, C.F.B.S., Diodato, D. (Daria), Schottmann, G. (Gudrun), Poulton, J. (Joanna), Burlina, A.B. (Alberto), Jonckheere, A. (An), Munnich, A. (Arnold), Rolinski, B. (Boris), Ghezzi, D. (Daniele), Rokicki, D. (Dariusz), Wellesley, D. (Diana), Martinelli, D. (Diego), Wenhong, D. (Ding), Lamantea, E. (Eleonora), Østergaard, E. (Elsebet), Pronicka, E. (Ewa), Pierre, G. (Germaine), Smeets, H.J.M. (Hubert), Wittig, I. (Ilka), Scurr, I. (Ingrid), Coo, I.F.M. (René) de, Moroni, I. (Isabella), Smet, J. (Joél), Mayr, J.A. (Johannes A.), Dai, L. (Lifang), Meirleir, L. (Linda) de, Schuelke, M. (Markus), Zeviani, M. (Massimo), Morscher, R.J. (Raphael J.), McFarland, R. (Robert), Seneca, S. (S.), Klopstock, T. (Thomas), Meitinger, T. (Thomas), Wieland, T. (Thomas), Strom, T.M. (Tim), Herberg, U. (Ulrike), Ahting, U. (Uwe), Sperl, W. (Wolfgang), Nassogne, M.C. (M.), Ling, H. (Han), Fang, F. (Fang), Freisinger, P. (Peter), Coster, R.N.A. (R. N A) van, Strecker, V. (Valentina), Taylor, R.W. (Robert William), Häberle, J. (Johannes), Vockley, J. (Jerry), Prokisch, H. (Holger), Wortmann, S.B. (S.)

المصدر: Orphanet journal of rare diseases vol. 13 no. 1

مصطلحات موضوعية: Activities of daily living, Cardiomyopathy, Complex I, Heart transplantation, Lactic acidosis, Mitochondrial disorder, Neonatal, Prognosis, Treatment, Vitamin

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/EC/FP7/317433; http://repub.eur.nl/pub/109529Test; urn:hdl:1765/109529

الإتاحة: https://doi.org/10.1186/s13023-018-0784-8Test
http://repub.eur.nl/pub/109529Test

المؤلفون: Ciaccio C., Pantaleoni C., Taroni F., Bella D. D., Magri S., Lamantea E., Ghezzi D., Valente E. M., Nigro V., D'arrigo S.

المساهمون: Ciaccio, C., Pantaleoni, C., Taroni, F., Bella, D. D., Magri, S., Lamantea, E., Ghezzi, D., Valente, E. M., Nigro, V., D'Arrigo, S.

مصطلحات موضوعية: Cerebellar atrophy, Genetic ataxia, Pediatric ataxias

وصف الملف: STAMPA

العلاقة: volume:11; issue:5; firstpage:1; lastpage:12; numberofpages:12; journal:APPLIED SCIENCES; https://hdl.handle.net/11571/1465554Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102687976

الإتاحة: https://doi.org/10.3390/app11052333Test
https://hdl.handle.net/11571/1465554Test

المؤلفون: Mastantuono, E, Repp, B, Alston, CL, Schiff, M, Haack, TB, Rotig, A, Ardissone, A, Lombes, A, Catarino, CB, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, HJ, Scurr, I, De Coo, IF, Moroni, I, Smet, J, Mayr, JA, De Meirleir, L, Schuelke, M, Zeviani, M, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Strom, TM, Herberg, U, Sperl, W, Nassogne, M, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Taylor, RW, Haberle, J, Vockley, J, Prokisch, H, Wortmann, S

العلاقة: https://ora.ox.ac.uk/objects/uuid:caee25dd-92af-4105-985d-f9cbd48ddd01Test; https://doi.org/10.1038/s41431-019-0404-7Test

الإتاحة: https://doi.org/10.1038/s41431-019-0404-7Test
https://ora.ox.ac.uk/objects/uuid:caee25dd-92af-4105-985d-f9cbd48ddd01Test

المؤلفون: Dallabona, C, Abbink, TEM, Carrozzo, R, Torraco, A, Legati, A, van Berkel, CGM, Niceta, M, Langella, T, Verrigni, D, Rizza, T, Diodato, D, Piemonte, F, Lamantea, E, Fang, M, Zhang, J, Martinelli, D, Bevivino, E, Dionisi-Vici, C, Vanderver, A, Philip, SG, Kurian, MA, Verma, IC, Bijarnia-Mahay, S, Jacinto, S, Furtado, F, Accorsi, P, Ardissone, A, Moroni, I, Ferrero, I, Tartaglia, M, Goffrini, P, Ghezzi, D, van der Knaap, MS, Bertini, E

مصطلحات موضوعية: Adolescent, Amino Acid Sequence, Child, Humans, Leukoencephalopathy, Progressive Multifocal / diagnosis, Progressive Multifocal / genetics, Mitochondrial Proteins / genetics, Molecular Chaperones / genetics, Molecular Sequence Data, Mutation / genetics, Saccharomyces cerevisiae, HDE NEU PED

العلاقة: Brain . 2016 Mar;139(Pt 3):782-94; http://hdl.handle.net/10400.17/4720Test

الإتاحة: https://doi.org/10.1093/brain/awv392Test
http://hdl.handle.net/10400.17/4720Test

المؤلفون: Ferriero R, Manco G, Lamantea E, Nusco E, Ferrante MI, Sordino P, Stacpoole PW, Lee B, Zeviani M, BRUNETTI PIERRI, NICOLA

المساهمون: Ferriero, R, Manco, G, Lamantea, E, Nusco, E, Ferrante, Mi, Sordino, P, Stacpoole, Pw, Lee, B, Zeviani, M, BRUNETTI PIERRI, Nicola

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000315922500008; volume:5; firstpage:175ra31; lastpage:175ra31; journal:SCIENCE TRANSLATIONAL MEDICINE; http://hdl.handle.net/11588/575375Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84875126013

الإتاحة: https://doi.org/10.1126/scitranslmed.3004986Test
http://hdl.handle.net/11588/575375Test

المؤلفون: Legati A., Zanetti N., Nasca A., Peron C., Lamperti C., Lamantea E., Ghezzi D.

المساهمون: A. Legati, N. Zanetti, A. Nasca, C. Peron, C. Lamperti, E. Lamantea, D. Ghezzi

مصطلحات موضوعية: Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33781964; info:eu-repo/semantics/altIdentifier/wos/WOS:000654338000008; volume:23; issue:6; firstpage:732; lastpage:741; numberofpages:10; journal:THE JOURNAL OF MOLECULAR DIAGNOSTICS; http://hdl.handle.net/2434/863432Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106395952

الإتاحة: https://doi.org/10.1016/j.jmoldx.2021.03.002Test
http://hdl.handle.net/2434/863432Test