المؤلفون: Horga, A, Bugiardini, E, Manole, A, Bremner, F, Jaunmuktane, Z, Dankwa, L, Rebelo, AP, Woodward, CE, Hargreaves, IP, Cortese, A, Pittman, AM, Brandner, S, Polke, JM, Pitceathly, RDS, Züchner, S, Hanna, MG, Scherer, SS, Houlden, H, Reilly, MM

المصدر: Neurology: Genetics , 5 (2) , Article e322. (2019)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10074939/8/Brandner_Autosomal%20dominant%20optic%20atrophy%20and%20cataract%20plus%20phenotype%20including%20axonal%20neuropathy_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10074939/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10074939/8/Brandner_Autosomal%20dominant%20optic%20atrophy%20and%20cataract%20plus%20phenotype%20including%20axonal%20neuropathy_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10074939/

المؤلفون: Pareyson D., Stojkovic T., Reilly M. M., Leonard-Louis S., Laura M., Blake J., Parman Y., Battaloglu E., Tazir M., Bellatache M., Bonello-Palot N., Levy N., Sacconi S., Guimaraes-Costa R., Attarian S., Latour P., Sole G., Megarbane A., Horvath R., Ricci G., Choi B. -O., Schenone A., Gemelli C., Geroldi A., Sabatelli M., Luigetti M., Santoro L., Manganelli F., Quattrone A., Valentino P., Murakami T., Scherer S. S., Dankwa L., Shy M. E., Bacon C. J., Herrmann D. N., Zambon A., Tramacere I., Pisciotta C., Magri S., Previtali S. C., Bolino A.

المساهمون: Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A.

Relation: info:eu-repo/semantics/altIdentifier/isbn/15318249 03645134; info:eu-repo/semantics/altIdentifier/pmid/31070812; info:eu-repo/semantics/altIdentifier/wos/WOS:000471671600006; volume:86; issue:1; firstpage:55; lastpage:67; numberofpages:13; journal:ANNALS OF NEUROLOGY; https://hdl.handle.net/20.500.11768/140056

الاتاحة: https://hdl.handle.net/20.500.11768/140056
https://doi.org/10.1002/ana.25500
https://onlinelibrary.wiley.com/doi/10.1002/ana.25500

المؤلفون: Horga A., Bugiardini E., Manole A., Bremner F., Jaunmuktane Z., Dankwa L., Rebelo A. P., Woodward C. E., Hargreaves I. P., Cortese A., Pittman A. M., Brandner S., Polke J. M., Pitceathly R. D. S., Zuchner S., Hanna M. G., Scherer S. S., Houlden H., Reilly M. M.

المساهمون: Horga, A., Bugiardini, E., Manole, A., Bremner, F., Jaunmuktane, Z., Dankwa, L., Rebelo, A. P., Woodward, C. E., Hargreaves, I. P., Cortese, A., Pittman, A. M., Brandner, S., Polke, J. M., Pitceathly, R. D. S., Zuchner, S., Hanna, M. G., Scherer, S. S., Houlden, H., Reilly, M. M.

مصطلحات موضوعية: 3-METHYLGLUTACONIC ACIDURIA, OPA3 GENE, MUTATION, EXPRESSION, MODEL

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/31119193; info:eu-repo/semantics/altIdentifier/wos/WOS:000481665200012; volume:5; issue:2; firstpage:e322; journal:NEUROLOGY. GENETICS; http://hdl.handle.net/11571/1349918; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065084491; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501639/

الاتاحة: http://hdl.handle.net/11571/1349918
https://doi.org/10.1212/NXG.0000000000000322
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501639/

المؤلفون: Senderek, J., Lassuthova, P., Kabzińska, D., Abreu, L., Baets, J., Beetz, C., Braathen, G.J., Brenner, D., Dalton, J., Dankwa, L., Deconinck, T., de Jonghe, P., Dräger, B., Eggermann, K., Ellis, M., Fischer, C., Stojkovic, T., Herrmann, D.N., Horvath, R., Høyer, H., Iglseder, S., Kennerson, M., Kinslechner, K., Kohler, J.N., Kurth, I., Laing, N.G., Lamont, P.J., Löscher, W., Ludolph, A., Marques, W., Nicholson, G., Ong, R., Petri, S., Ravenscroft, G., Rebelo, A., Ricci, G., Rudnik-Schöneborn, S., Schirmacher, A., Schlotter-Weigel, B., Schoels, L., Schüle, R., Synofzik, M., Francou, B., Strom, T.M., Wagner, J., Walk, D., Wanschitz, J., Weinmann, D., Weishaupt, J., Wiessner, M., Windhager, R., Young, P., Züchner, S., Toegel, S., Seeman, P., Kochański, A., Auer-Grumbach, M.

المصدر: Neurology 95, e3163-e3179 (2020)

Relation: info:eu-repo/semantics/altIdentifier/pmid/33144514; info:eu-repo/semantics/altIdentifier/wos/WOS:000607315800013; info:eu-repo/semantics/altIdentifier/isbn/0028-3878; info:eu-repo/semanti

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60652
https://doi.org/10.1212/WNL.0000000000011132

المؤلفون: Pareyson D, Stojkovic T, Leonard-Louis S, Reilly MM, Laura M, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Sacconi S, Guimaraes-Costa R, Attarian S, Latour P, Megarbane A, Schenone A, Ursino G, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Herrmann D, Pisciotta C, Previtali S, Bolino A

المساهمون: Pareyson, D, Stojkovic, T, Leonard-Louis, S, Reilly, Mm, Laura, M, Parman, Y, Battaloglu, E, Tazir, M, Bellatache, M, Bonello-Palot, N, Sacconi, S, Guimaraes-Costa, R, Attarian, S, Latour, P, Megarbane, A, Schenone, A, Ursino, G, Sabatelli, M, Luigetti, M, Santoro, L, Manganelli, F, Quattrone, A, Valentino, P, Murakami, T, Scherer, S, Dankwa, L, Shy, Me, Herrmann, D, Pisciotta, C, Previtali, S, Bolino, A

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000400687600053; ispartofbook:JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM; 7th Annual Meeting of the Associazione-Italiana-Sistema-Nervoso-Periferico (ASNP); volume:22; firstpage:28; lastpage:28; numberofpages:1; journal:JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM; https://hdl.handle.net/20.500.11768/139520

الاتاحة: https://hdl.handle.net/20.500.11768/139520

المؤلفون: Tao, F.F., Beecham, G.W., Rebelo, A.P., Svaren, J., Blanton, S.H., Moran, J.J., Lopez-Anido, C., Morrow, J.M., Abreu, L., Rizzo, D., Kirk, C.A., Wu, X.Y., Feely, S., Verhamme, C., Saporta, M.A., Herrmann, D.N., Day, J.W., Sumner, C.J., Lloyd, T.E., Li, J., Yum, S.W., Taroni, F., Baas, F., Choi, B.O., Pareyson, D., Scherer, S.S., Reilly, M.M., Shy, M.E., Zuchner, S., Lewis, R., Acsadi, G., Finkel, R., Fridman, V., Ramchandren, S., Walk, D., Logigian, E., Stanton, M., Eichinger, K., Guntrum, D., Gibson, C., Burns, J., Moroni, I., Pisciotta, C., Laura, M., Muntoni, F., Sowden, J.E., Mountain, J., Bai, Y.H., Bacon, C., Gutmann, L., Grider, T., Phetteplace, J., Seyedsadjadi, R., Houlden, H., Cortese, A., Pandraud, A., Calabrese, D., Saveri, P., Richardson, J., Dankwa, L., Lee, D., Siskind, C., Maciel, R., Bis, D., Inherited Neuropathy Consortium

المصدر: Annals of Neurology, 85(3), 316-330. WILEY

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a7eed701d8be127d74bc936c55c4a687
https://hdl.handle.net/1887/122225

المؤلفون: Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laura M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Levy N, Sacconi S, Guimaraes-Costa R, Attarian S, Latour P, Sole G, Megarbane A, Horvath R, Ricci G, Choi B-O, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A

المصدر: Annals of Neurology, July 2019

Relation: https://eprints.ncl.ac.uk/258334

الاتاحة: https://eprints.ncl.ac.uk/258334

المؤلفون: Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A., Sabatelli M. (ORCID:0000-0001-6635-4985), Luigetti M. (ORCID:0000-0001-7539-505X), Santoro L.

مصطلحات الفهرس: hereditary neuropathies, Settore MED/26 - NEUROLOGIA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/139776
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1531-8249
info:eu-repo/semantics/altIdentifier/pmid/31070812
info:eu-repo/semantics/altIdentifier/wos/WOS:000471671600006
volume:86
issue:1
firstpage:55
lastpage:67
numberofpages:13
issueyear:2019
journal:ANNALS OF NEUROLOGY

المؤلفون: Horga, A, Bugiardini, E, Manole, A, Bremner, F, Jaunmuktane, Z, Dankwa, L, Rebelo, AP, Woodward, CE, Hargreaves, IP, Cortese, A, Pittman, AM, Brandner, S, Polke, JM, Pitceathly, RDS, Züchner, S, Hanna, MG, Scherer, SS, Houlden, H, Reilly, MM

مصطلحات موضوعية: RE

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::861944f1e6f16215d1ab61643513fc63
https://researchonline.ljmu.ac.uk/id/eprint/11033/1/alex.pdf

المؤلفون: Davide Pareyson, Stojkovic, T., Leonard-Louis, S., Reilly, M. M., Laura, M., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Megarbane, A., Schenone, A., Ursino, G., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Herrmann, D., Pisciotta, C., Previtali, S., Bolino, A.

المصدر: ResearcherID
Publons

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6c8679a0fca10355d688815ababd9afd
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000400687600053&KeyUID=WOS:000400687600053

المؤلفون: Nathalie Bonello-Palot, Chiara Pisciotta, Mario Sabatelli, Rita Horvath, Stefano C. Previtali, Alessandro Geroldi, Esra Battaloglu, Julian Blake, André Mégarbané, Raquel Guimarães-Costa, Matilde Laura, Alberto A. Zambon, Angelo Schenone, Lucio Santoro, Sabrina Sacconi, Philippe Latour, Yesim Parman, Michael E. Shy, Chiara Gemelli, Irene Tramacere, Sarah Leonard-Louis, Mounia Bellatache, Nicolas Lévy, Steven S. Scherer, Byung Ok Choi, Aldo Quattrone, S. Attarian, Tatsufumi Murakami, Lois Dankwa, Paola Valentino, David N. Herrmann, Marco Luigetti, Mary M. Reilly, Stefania Magri, Fiore Manganelli, Davide Pareyson, Meriem Tazir, Chelsea Bacon, Guilhem Solé, Alessandra Bolino, Tanya Stojkovic, Giulia Ricci

المساهمون: Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A., CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU), Service de Neurologie, CHU Mustapha, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Nice, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Filière Neuromusculaire (FILNEMUS), Centre de Biologie et Pathologie Est (CBPE), Hospices Civils de Lyon (HCL)-Centre National de Référence des Légionelles, Centre de référence des maladies rares neuromusculaires Aquitaine-Grand Sud Ouest, CHU Bordeaux [Bordeaux], Unité de génétique médicale, Université Saint-Joseph de Beyrouth (USJ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Jérôme Lejeune, CHU Trousseau [APHP], University of Pisa - Università di Pisa, Department of Neuroscience, Ophtalmology and Genetics, Genova, Università cattolica del Sacro Cuore [Roma] (Unicatt), Department of Neuroscience, Catholic University, Roma, University of Naples Federico II, Institute of Bioimaging and Molecular Physiology [Germaneto], National Research Council [Italy] (CNR), Istituto di Ricerche Farmacologiche 'Mario Negri', 20156 Milan, Human Inherited Neuropathies Unit, San Raffaele Scientific Institute-INSPE-Institute for Experimental Neurology, Dulbecco Telethon Institute, San Raffaele Scientific Institute, Bonello-Palot, Nathalie [0000-0002-8657-1271], Previtali, Stefano C [0000-0003-2546-4357], Bolino, Alessandra [0000-0002-8980-4878], Apollo - University of Cambridge Repository, Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Nice Sophia Antipolis (1965 - 2019) (UNS), Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart [Roma] (Unicatt), University of Naples Federico II = Università degli studi di Napoli Federico II

المصدر: Annals of Neurology
Annals of Neurology, 2019, 86 (1), pp.55-67. ⟨10.1002/ana.25500⟩
Ann Neurol

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Cord, Adolescent, Myotubularin, Glaucoma, Disease, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Internal medicine, medicine, Humans, Young adult, Child, Loss function, Retrospective Studies, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, hereditary neuropathies, Retrospective cohort study, Middle Aged, Protein Tyrosine Phosphatases, Non-Receptor, medicine.disease, Phenotype, 3. Good health, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Child, Preschool, Mutation, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/octet-stream; image/jpeg

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336a02204041cbb41783b5eb0bfbc465
http://hdl.handle.net/11588/756025