المؤلفون: Charif M., Chevrollier A., Gueguen N., Bris C., Goudenege D., Desquiret-Dumas V., Leruez S., Colin E., Meunier A., Vignal C., Smirnov V., Defoort-Dhellemmes S., Drumare Bouvet I., Goizet C., Votruba M., Jurkute N., Yu-Wai-Man P., Tagliavini F., Caporali L., La Morgia C., Carelli V., Procaccio V., Zanlonghi X., Meunier I., Reynier P., Bonneau D., Amati-Bonneau P., Lenaers G.

المساهمون: Charif M., Chevrollier A., Gueguen N., Bris C., Goudenege D., Desquiret-Dumas V., Leruez S., Colin E., Meunier A., Vignal C., Smirnov V., Defoort-Dhellemmes S., Drumare Bouvet I., Goizet C., Votruba M., Jurkute N., Yu-Wai-Man P., Tagliavini F., Caporali L., La Morgia C., Carelli V., Procaccio V., Zanlonghi X., Meunier I., Reynier P., Bonneau D., Amati-Bonneau P., Lenaers G.

مصطلحات موضوعية: DOA, AFG3L2, SPG7, optic atrophy

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32548275; info:eu-repo/semantics/altIdentifier/wos/WOS:000549921400011; volume:6; issue:3; firstpage:1; lastpage:10; numberofpages:10; journal:NEUROLOGY. GENETICS; https://hdl.handle.net/11585/794081; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85093931635; https://ng.neurology.org/content/6/3/e428

الاتاحة: https://hdl.handle.net/11585/794081
https://doi.org/10.1212/NXG.0000000000000428
https://ng.neurology.org/content/6/3/e428

المؤلفون: Jurkute, N, Bertacchi, M, Arno, G, Tocco, C, Kim, US, Kruszewski, AM, Avery, RA, Bedoukian, EC, Han, J, Ahn, SJ, Pontikos, N, Acheson, J, Davagnanam, I, Bowman, R, Kaliakatsos, M, Gardham, A, Wakeling, E, Oluonye, N, Reddy, MA, Clark, E, Rosser, E, Amati-Bonneau, P, Charif, M, Lenaers, G, Meunier, I, Defoort, S, Vincent-Delorme, C, Robson, AG, Holder, GE, Jeanjean, L, Martinez-Monseny, A, Vidal-Santacana, M, Dominici, C, Gaggioli, C, Giordano, N, Caleo, M, Liu, GT, Genomics England Research Consortium, Webster, AR, Studer, M, Yu-Wai-Man, P

المصدر: Brain Communications , 3 (3) , Article fcab162. (2021)

مصطلحات موضوعية: BBSOAS, NR2F1, inherited optic neuropathy, mouse model, optic nerve head anomalies

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10135851/1/Jurkute_Pathogenic%20NR2F1%20variants%20cause%20a%20developmental%20ocular%20phenotype%20recapitulated%20in%20a%20mutant%20mouse%20model_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10135851/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10135851/1/Jurkute_Pathogenic%20NR2F1%20variants%20cause%20a%20developmental%20ocular%20phenotype%20recapitulated%20in%20a%20mutant%20mouse%20model_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10135851/

المؤلفون: Charif, M, Gueguen, N, Ferré, M, Elkarhat, Z, Khiati, S, LeMao, M, Chevrollier, A, Desquiret-Dumas, V, Goudenège, D, Bris, C, Kane, S, Alban, J, Chupin, S, Wetterwald, C, Caporali, L, Tagliavini, F, LaMorgia, C, Carbonelli, M, Jurkute, N, Barakat, A, Gohier, P, Verny, C, Barth, M, Procaccio, V, Bonneau, D, Zanlonghi, X, Meunier, I, Weisschuh, N, Schimpf-Linzenbold, S, Tonagel, F, Kellner, U, Yu-Wai-Man, P, Carelli, V, Wissinger, B, Amati-Bonneau, P, Reynier, P, European ION Group, ., Lenaers, G

المصدر: Brain Communications , 3 (2) , Article fcab063. (2021)

مصطلحات موضوعية: ACO2, Krebs cycle, aconitase 2, mitochondria, optic neuropathy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10129233/1/fcab063.pdf; https://discovery.ucl.ac.uk/id/eprint/10129233/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10129233/1/fcab063.pdf
https://discovery.ucl.ac.uk/id/eprint/10129233/

المؤلفون: Charif, M, Chevrollier, A, Gueguen, N, Bris, C, Goudenège, D, Desquiret-Dumas, V, Leruez, S, Colin, E, Meunier, A, Vignal, C, Smirnov, V, Defoort-Dhellemmes, S, Drumare Bouvet, I, Goizet, C, Votruba, M, Jurkute, N, Yu-Wai-Man, P, Tagliavini, F, Caporali, L, La Morgia, C, Carelli, V, Procaccio, V, Zanlonghi, X, Meunier, I, Reynier, P, Bonneau, D, Amati-Bonneau, P, Lenaers, G

المصدر: Neurology Genetics , 6 (3) , Article e428. (2020)

مصطلحات موضوعية: Optic nerve, Mitochondrial disorders, Spinocerebellar ataxia, Visual loss

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10103658/1/Mutations%20in%20the%20m-AAA%20proteases%20AFG3L2%20and%20SPG7%20are%20causing%20isolated%20dominant%20optic%20atrophy.pdf; https://discovery.ucl.ac.uk/id/eprint/10103658/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10103658/1/Mutations%20in%20the%20m-AAA%20proteases%20AFG3L2%20and%20SPG7%20are%20causing%20isolated%20dominant%20optic%20atrophy.pdf
https://discovery.ucl.ac.uk/id/eprint/10103658/

المؤلفون: Jurkute, N, Majander, A, Bowman, R, Votruba, M, Abbs, S, Acheson, J, Lenaers, G, Amati-Bonneau, P, Moosajee, M, Arno, G, Yu-Wai-Man, P

المصدر: European Journal of Human Genetics , 27 pp. 494-502. (2019)

مصطلحات موضوعية: Disease genetics, Neurological disorders

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10062110/1/CUGC%20final%20manuscript.pdf; https://discovery.ucl.ac.uk/id/eprint/10062110/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10062110/1/CUGC%20final%20manuscript.pdf
https://discovery.ucl.ac.uk/id/eprint/10062110/

المؤلفون: LERUEZ, S., VERNY, C., BONNEAU, D., PROCACCIO, V., LENAERS, G., AMATI-BONNEAU, P., REYNIER, P., SCHERER, C., PRUNDEAN, A., ORSSAUD, C., ZANLONGHI, X., ROUGIER, Marie-Benedicte, TILIKETE, C., MILEA, D.

مصطلحات موضوعية: LEHA, Sciences du Vivant [q-bio]/Santé publique et épidémiologie

Relation: 1750-1172 (Electronic) 1750-1172 (Linking); https://oskar-bordeaux.fr/handle/20.500.12278/21257

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/21257
https://hdl.handle.net/20.500.12278/21257
https://doi.org/10.1186/s13023-018-0773-y

المؤلفون: Leruez, S, Verny, C, Bonneau, D, Procaccio, V, Lenaers, G, Amati-Bonneau, P, Reynier, P, Scherer, C, Prundean, A, Orssaud, C, Zanlonghi, X, Rougier, M.-B, Tilikete, C, Miléa, D

المساهمون: DUKE-NUS MEDICAL SCHOOL

المصدر: Unpaywall 20201031

مصطلحات موضوعية: cyclosporine, idebenone, immunosuppressive agent, adult, angina pectoris, Article, best corrected visual acuity, clinical article, diarrhea, dizziness, drug efficacy, female, headache, human, influenza, Leber hereditary optic neuropathy, low drug dose, male, multicenter study, nausea, nucleic acid base substitution, open study, otitis media, perimetry, phase 2 clinical trial, pilot study, prospective study, psoriasis, retinal ganglion cell layer, retinal nerve fiber layer thickness

Relation: Leruez, S, Verny, C, Bonneau, D, Procaccio, V, Lenaers, G, Amati-Bonneau, P, Reynier, P, Scherer, C, Prundean, A, Orssaud, C, Zanlonghi, X, Rougier, M.-B, Tilikete, C, Miléa, D (2018). Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy. Orphanet Journal of Rare Diseases 13 (1) : 33. ScholarBank@NUS Repository. https://doi.org/10.1186/s13023-018-0773-y; https://scholarbank.nus.edu.sg/handle/10635/178106

الاتاحة: https://scholarbank.nus.edu.sg/handle/10635/178106

المؤلفون: Unal, ŞULE, Akarsu, NA, Bahram, S, Isidor, B, Lengerke, C, Westhof, E, Bottollier-Lemallaz, E, Shimamura, A, Fleming, MD, Myers, K, Thevenon, J, Thauvin-Robinet, C, Faivre, L, Guy, J, Vincent, M, Eveillard, M, Béné, MC, Grain, A, Rialland, F, Chenard, MP, Radosavljevic, M, Goetz, JG, Lefebvre, O, Osmani, N, Marle, N, Mosca-Boidron, AL, Procaccio, V, Amati-Bonneau, P, Sancho, CS, Morlon, A, Macquin, C, Sauteur, L, Alghisi, E, Müller, JS, Rolli, V, Hanauer, A, Paul, N, Kolmer, A, Naegely, L, Alsaleh, G, Shardy, DL, Mahoney, DH, Bergstrom, KL, Yang, Y, Leduc, MS, Pichot, A, Miao, Z, Paillard, C, Konantz, M, Carapito, R

الاتاحة: https://doi.org/10.1172/jci92876
https://avesis.hacettepe.edu.tr/publication/details/7315acbf-daf0-4bab-ad0d-64dcc06be546/oai

المؤلفون: Lenaers, G., Charif, M., Amati‐Bonneau, P., de la Barca, J. Chao, Procaccio, V., Chevrollier, A., Leruez, S., Bonneau, D., Reynier, P.

المصدر: Acta Ophthalmologica ; volume 95, issue S259 ; ISSN 1755-375X 1755-3768

الاتاحة: http://dx.doi.org/10.1111/j.1755-3768.2017.03172
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1755-3768.2017.03172
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1755-3768.2017.03172/fullpdf

المؤلفون: Bruet, L., Rebillard, G, Brun, E., Angebault, Claire, Pequignot, M., Lenoir, M., Do-Cruzeiro, M, Tournier, E, Kornille, K., Saleur, A, Gueguen, N., Reynier, P., Amati-Bonneau, P., Barakat, A., Blanchet, Christophe, Chinnery, P., Yu-Wai-Man, P, Kaplan, J., Roux, A.F., van Camp, G, Wissinger, B., Boespflug-Tanguy, O., Giraudet, F., Puel, J-L, Lenaers, Guy, Hamel, C, Delprat, Benjamin, Delettre, C.

المساهمون: Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Plateforme Recombinaison Homologue, Transfert d'Embryons et Cryoconservation Institut Cochin (PRHTEC), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'ophtalmologie Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur du Maroc, Pasteur Network (Réseau International des Instituts Pasteur), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Newcastle University Newcastle, Genetics in Ophthalmology (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Antwerp (UA), Eberhard Karls Universität Tübingen = University of Tübingen, AP-HP Hôpital universitaire Robert-Debré Paris, Neuro-Dol (Neuro-Dol), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne 2017-2020 (UCA 2017-2020 )

المصدر: ISSN: 2058-7716 ; Cell Death Discovery ; https://hal.science/hal-01866772 ; Cell Death Discovery, 2016, 2 (1), pp.16017. ⟨10.1038/cddiscovery.2016.17⟩.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC]

Relation: info:eu-repo/semantics/altIdentifier/pmid/27275396; PUBMED: 27275396; PUBMEDCENTRAL: PMC4893315

الاتاحة: https://hal.science/hal-01866772
https://hal.science/hal-01866772v1/document
https://hal.science/hal-01866772v1/file/Loss%20of%20function%20ofYwhahin%20mice%20induces%20deafness%20andcochlear%20outer%20hair%20cells%27%20degeneration_cddiscovery201617.pdf
https://doi.org/10.1038/cddiscovery.2016.17

المؤلفون: Achilli A., IOMMARINI, LUISA, Olivieri A., Pala M., Hooshiar Kashani B., Reynier P., LA MORGIA, CHIARA, VALENTINO, MARIA LUCIA, LIGUORI, ROCCO, PIZZA, FABIO, Barboni P., Sadun F., De Negri A. M., Zeviani M., Dollfus H., Moulignier A., Ducos G., Orssaud C., Bonneau D., Procaccio V., Leo Kottler B., Fauser S., Wissinger B., Amati Bonneau P., Torroni A., CARELLI, VALERIO

المساهمون: Achilli A., Iommarini L., Olivieri A., Pala M., Hooshiar Kashani B., Reynier P., La Morgia C., Valentino M.L., Liguori R., Pizza F., Barboni P., Sadun F., De Negri A.M., Zeviani M., Dollfus H., Moulignier A., Ducos G., Orssaud C., Bonneau D., Procaccio V., Leo-Kottler B., Fauser S., Wissinger B., Amati-Bonneau P., Torroni A., Carelli V.

مصطلحات موضوعية: mtDNA, Leber's Hereditary Optic Neuropathy, pathogenic mutation, haplogroup, Genetic Variation, polymorphism, rare mutations

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/22879922; info:eu-repo/semantics/altIdentifier/wos/WOS:000307284100058; volume:7; issue:8; firstpage:1; lastpage:11; numberofpages:11; journal:PLOS ONE; http://hdl.handle.net/11585/126316; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84864554107

الاتاحة: http://hdl.handle.net/11585/126316
https://doi.org/10.1371/journal.pone.0042242

المؤلفون: Amati Bonneau P., Valentino M. L., Reynier P., Gallardo M. E., Bornstein B., Boissière A., Campos Y., Rivera H., Gonzalez de la Aleja J., Carroccia R., Iommarini L., Labauge P., Figarella Branger D., Marcorelles P., Furby A., Beauvais K., Letournel F., Liguori R., La Morgia C., Montagna P., Liguori M., Zanna C., Rugolo M., Wissinger B., Verny C., Schwarzenbacher R., Martin M. A., Arenas J., Ayuso C., Garesse R., Lenaers G., Bonneau D., Carelli V., COSSARIZZA, Andrea

المساهمون: Amati Bonneau, P., Valentino, M. L., Reynier, P., Gallardo, M. E., Bornstein, B., Boissière, A., Campos, Y., Rivera, H., Gonzalez de la Aleja, J., Carroccia, R., Iommarini, L., Labauge, P., Figarella Branger, D., Marcorelles, P., Furby, A., Beauvais, K., Letournel, F., Liguori, R., La Morgia, C., Montagna, P., Liguori, M., Zanna, C., Rugolo, M., Cossarizza, Andrea, Wissinger, B., Verny, C., Schwarzenbacher, R., Martin, M. A., Arenas, J., Ayuso, C., Garesse, R., Lenaers, G., Bonneau, D., Carelli, V.

مصطلحات موضوعية: Chronic progressive external ophthalmoplegia, Dominant optic atrophy, Mitochondria, Mitochondrial encephalomyopathy, mtDNA multiple deletion

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/18158317; info:eu-repo/semantics/altIdentifier/wos/WOS:000252903900007; volume:131; issue:2; firstpage:338; lastpage:351; journal:BRAIN; http://hdl.handle.net/11380/612881; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-38849192448

الاتاحة: http://hdl.handle.net/11380/612881
https://doi.org/10.1093/brain/awm298

المؤلفون: Jurkute, N., Bertacchi, M., Arno, G., Tocco, C., Kim, U. S., Kruszewski, A. M., Avery, R. A., Bedoukian, E. C., Han, J., Ahn, S. J., Pontikos, N., Acheson, J., Davagnanam, I., Bowman, R., Kaliakatsos, M., Gardham, A., Wakeling, E., Oluonye, N., Reddy, M. A., Clark, E., Rosser, E., Amati-Bonneau, P., Charif, M., Lenaers, G., Meunier, I., Defoort, S., Vincent, Catherine, Robson, A. G., Holder, G. E., Jeanjean, L., Martinez-Monseny, A., Vidal-Santacana, M., Dominici, C., Gaggioli, C., Giordano, N., Caleo, M., Liu, G. T., Webster, A. R., Studer, M., Yu-Wai-Man, P.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

مصطلحات موضوعية: NR2F1, inherited optic neuropathy, BBSOAS, mouse model, optic nerve head anomalies

Relation: Brain Commun; http://hdl.handle.net/20.500.12210/115585

الاتاحة: https://hdl.handle.net/20.500.12210/115585

المؤلفون: Billiet, B., Amati-Bonneau, P., Desquiret-Dumas, V., Guehlouz, K., Milea, D., Gohier, P., Lenaers, G., Mirebeau-Prunier, D., Dunnen, J.T. den, Reynier, P., Ferre, M.

المصدر: Human Mutation: Variation, Informatics and Disease

مصطلحات موضوعية: BBSOAS, Bosch-Boonstra-Schaaf optic atrophy syndrome, COUP transcription factor 1 protein, COUP-TF1, database, neurodegenerative disorders, nuclear receptor subfamily 2 group F member 1, ontology, optic atrophy

وصف الملف: application/pdf

Relation: lumc-id: 122437071; https://hdl.handle.net/1887/3256619

الاتاحة: https://hdl.handle.net/1887/3256619
https://onlinelibrary.wiley.com/doi/10.1002/humu.24305
https://doi.org/10.1002/humu.24305

المؤلفون: Ayrignac, X., Liauzun, C., Lenaers, G., Renard, D., Amati-Bonneau, P., de Sèze, J., Dollfus, H., Hamel, C., Bonneau, D., Labauge, P.

المصدر: European Neurology ; volume 68, issue 2, page 108-110 ; ISSN 0014-3022 1421-9913

الاتاحة: http://dx.doi.org/10.1159/000339310
https://www.karger.com/Article/Pdf/339310

المؤلفون: Angebault, C, Gueguen, N, Desquiret-Dumas, V, Chevrollier, A, Guillet, V, Verny, C, Cassereau, J, Ferre, M, Milea, D, Amati-Bonneau, P, Bonneau, D, Procaccio, V, Reynier, P, Loiseau, D

المساهمون: DUKE-NUS MEDICAL SCHOOL

المصدر: Unpaywall 20201031

Relation: Angebault, C, Gueguen, N, Desquiret-Dumas, V, Chevrollier, A, Guillet, V, Verny, C, Cassereau, J, Ferre, M, Milea, D, Amati-Bonneau, P, Bonneau, D, Procaccio, V, Reynier, P, Loiseau, D (2011). Idebenone increases mitochondrial complex i activity in fibroblasts from LHON patients while producing contradictory effects on respiration. BMC Research Notes 4 : 557. ScholarBank@NUS Repository. https://doi.org/10.1186/1756-0500-4-557; https://scholarbank.nus.edu.sg/handle/10635/178157

الاتاحة: https://scholarbank.nus.edu.sg/handle/10635/178157

المؤلفون: Yu-Wai-Man, P, Griffiths, PG, Gorman, GS, Lourenco, CM, Wright, AF, Auer-Grumbach, M, Toscano, A, Musumeci, O, Valentino, ML, Caporali, L, Lamperti, C, Tallaksen, CM, Duffey, P, Miller, J, Whittaker, RG, Baker, MR, Jackson, MJ, Clarke, MP, Dhillon, B, Czermin, B, Stewart, JD, Hudson, G, Reynier, P, Bonneau, D, Marques, W, Lenaers, G, McFarland, R, Taylor, RW, Turnbull, DM, Votruba, M, Zeviani, M, Carelli, V, Bindoff, LA, Horvath, R, Amati-Bonneau, P, Chinnery, PF

مصطلحات موضوعية: Adolescent, Adult, Aged, Central Nervous System Diseases, Child, Cohort Studies, DNA, Mitochondrial, Family, Female, GTP Phosphohydrolases, Heterozygote, Humans, Male, Middle Aged, Muscle, Skeletal, Mutation, Optic Atrophy, Autosomal Dominant, Phenotype, Young Adult

وصف الملف: Print-Electronic; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/290368

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/290368
https://doi.org/10.17863/CAM.37598

المؤلفون: Yu-Wai-Man, P., Griffiths, P.G., Gorman, G.S., Lourenco, C.M., Wright, A.F., Auer-Grumbach, M., Toscano, A., Musumeci, O., Valentino, M.L., Caporali, L., Lamperti, C., Tallaksen, C.M., Duffey, P., Miller, J., Whittaker, R.G., Baker, M.R., Jackson, M.J., Clarke, M.P., Dhillon, B., Czermin, B., Stewart, J.D., Hudson, G., Reynier, P., Bonneau, D., Marques, W., Lenaers, G., McFarland, R., Taylor, R.W., Turnbull, D.M., Votruba, M., Zeviani, M., Carelli, V., Bindoff, L.A., Horvath, R., Amati-Bonneau, P., Chinnery, P.F.

مصطلحات موضوعية: Original Articles

وصف الملف: text/html

Relation: http://brain.oxfordjournals.org/cgi/content/short/awq007v1; http://dx.doi.org/10.1093/brain/awq007

الاتاحة: http://brain.oxfordjournals.org/cgi/content/short/awq007v1
https://doi.org/10.1093/brain/awq007

المؤلفون: Chinnery, P, Jackson, M, Amati-Bonneau, P, Yu-Wai-Man, P, Gorman, G, Duffey, P, Baker, M, Zeviani, M, Horvath, R, Miller, J

مصطلحات موضوعية: ABN Abstracts

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/81/11/e32-d; http://dx.doi.org/10.1136/jnnp.2010.226340.62

الاتاحة: http://jnnp.bmj.com/cgi/content/short/81/11/e32-d
https://doi.org/10.1136/jnnp.2010.226340.62

المؤلفون: Le Meur, N, Holder-Espinasse, M, Jaillard, S, Goldenberg, A, Joriot, S, Amati-Bonneau, P, Guichet, A, Barth, M, Charollais, A, Journel, H, Auvin, S, Boucher, C, Kerckaert, J-P, David, V, Manouvrier-Hanu, S, Saugier-Veber, P, Frébourg, T, Dubourg, C, Andrieux, J, Bonneau, D

مصطلحات موضوعية: Original article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/47/1/22; http://dx.doi.org/10.1136/jmg.2009.069732

الاتاحة: http://jmg.bmj.com/cgi/content/short/47/1/22
https://doi.org/10.1136/jmg.2009.069732