Metabolite profile in hereditary spastic paraplegia analyzed using magnetic resonance spectroscopy: a cross-sectional analysis in a longitudinal study.

Autor: Montanaro D; U.O. Dipartimentale e Servizio Autonomo di Risonanza Magnetica, Dipartimento di Neuroscienze dell'Età Evolutiva, IRCCS Fondazione Stella Maris, Pisa, Italy., Vavla M; Child and Adolescent Neuropsychiatric Unit, Department of Women's and Children's Health, University Hospital of Padua, Padova, Italy.; Department of Neurorehabilitation, IRCCS E. Medea Scientific Institute, Conegliano, Italy., Frijia F; Bioengineering Unit, Fondazione Toscana G. Monasterio, Pisa, Italy., Coi A; Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy., Baratto A; Department of Radiology, S. Maria dei Battuti Hospital- Conegliano, Treviso, Italy., Pasquariello R; U.O. Dipartimentale e Servizio Autonomo di Risonanza Magnetica, Dipartimento di Neuroscienze dell'Età Evolutiva, IRCCS Fondazione Stella Maris, Pisa, Italy., Stefan C; Department of Neurorehabilitation, IRCCS E. Medea Scientific Institute, Conegliano, Italy., Martinuzzi A; Department of Neurorehabilitation, IRCCS E. Medea Scientific Institute, Conegliano, Italy.

Publikováno v: Frontiers in neuroscience [Front Neurosci] 2024 Aug 13; Vol. 18, pp. 1416093. Date of Electronic Publication: 2024 Aug 13 (Print Publication: 2024).

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.

Autor: Karazi W; Neuromuscular Center Nijmegen, Department of Neurology, 910, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Scalco RS; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, UK., Stemmerik MG; Copenhagen Neuromuscular Center, Section 8077, , Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark., Løkken N; Copenhagen Neuromuscular Center, Section 8077, , Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark., Lucia A; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain.; Instituto de Investigación Hospital, 12 de Octubre (imas12), Madrid, Spain., Santalla A; Instituto de Investigación Hospital, 12 de Octubre (imas12), Madrid, Spain.; Universidad Pablo de Olavide, Seville, Spain., Martinuzzi A; Departments of Neurorehabilitation, IRCCS Medea Scientifc Insitute, Conegliano-Pieve Di Soligo, Italy., Vavla M; Departments of Neurorehabilitation, IRCCS Medea Scientifc Insitute, Conegliano-Pieve Di Soligo, Italy., Reni G; Department of Information Technology, Autonomous Province of Bolzano, Bolzano, Italy., Toscano A; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Musumeci O; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Kouwenberg CV; Neuromuscular Center Nijmegen, Department of Neurology, 910, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Laforêt P; Neurology Department, Raymond Poincaré University Hospital, APHP, Garches, France., Millán BS; Pathology Department, Alvaro Cunqueiro Hospital, Vigo, Spain.; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGASUVIGO, Vigo, Spain., Vieitez I; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGASUVIGO, Vigo, Spain., Siciliano G; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Kühnle E; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bochum, Bochum, Germany., Trost R; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bochum, Bochum, Germany., Sacconi S; Peripheral Nervous System and Muscle Department, CHU Nice, Université Côte D'Azur, Institute for Research On Cancer and Aging of Nice (IRCAN), INSERM U1081, CNRS UMR 7284, Faculty of Medicine, Université Côte D'Azur (UCA), Nice, France., Durmus H; Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Kierdaszuk B; Department of Neurology, Medical University of Warsaw, Warsaw, Poland., Wakelin A; Association for Glycogen Storage Disease (UK), Bristol, UK., Andreu AL; EATRIS, European Infrastructure for Translational Medicine, 1081 HZ, Amsterdam, The Netherlands., Pinós T; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain., Marti R; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain., Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, UK., Vissing J; Copenhagen Neuromuscular Center, Section 8077, , Rigshospitalet, University of Copenhagen, 2100, Copenhagen, Denmark., Voermans NC; Neuromuscular Center Nijmegen, Department of Neurology, 910, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. nicol.voermans@radboudumc.nl.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 25; Vol. 18 (1), pp. 210. Date of Electronic Publication: 2023 Jul 25.

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

Autor: Scalco, R. S., Lucia, A., Santalla, A., Martinuzzi, A., Vavla, M., Reni, G., Toscano, A., Musumeci, O., Voermans, N. C., Kouwenberg, C. V., Laforet, P., San-Millan, B., Vieitez, I., Siciliano, G., Kuhnle, E., Trost, R., Sacconi, S., Stemmerik, M. G., Durmus, H., Kierdaszuk, B., Wakelin, A., Andreu, A. L., Pinos, T., Marti, R., Quinlivan, R., Vissing, J., Baruch, N., Ortega, F. J., Martin, M. A., Navarro, C., Millan, B. S., Castelli, M., Zucchi, F., Bruno, C., Scalco, R., Hadjgeorgiou, G., Zintzaras, E., Vorgerd, M., Zulow, E., Haller, R., Oflazer, P., Pouget, J.

Publikováno v: Orphanet Journal of Rare Diseases, 15
Orphanet Journal of Rare Diseases, 15, 1
Orphanet Journal of Rare Diseases
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Scalco, R S, Lucia, A, Santalla, A, Martinuzzi, A, Vavla, M, Reni, G, Toscano, A, Musumeci, O, Voermans, N C, Kouwenberg, C V, Laforêt, P, San-Millán, B, Vieitez, I, Siciliano, G, Kühnle, E, Trost, R, Sacconi, S, Stemmerik, M G, Durmus, H, Kierdaszuk, B, Wakelin, A, Andreu, A L, Pinós, T, Marti, R, Quinlivan, R, Vissing, J & EUROMAC Consortium 2020, ' Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) ', Orphanet Journal of Rare Diseases, vol. 15, no. 1, pp. 330 . https://doi.org/10.1186/s13023-020-01562-x

Background The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94adc6c623ddc8c601564aa98abbe03e
http://hdl.handle.net/11570/3184381

Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

Autor: Coutelier, M. Hammer, M.B. Stevanin, G. Monin, M.-L. Davoine, C.-S. Mochel, F. Labauge, P. Ewenczyk, C. Ding, J. Gibbs, J.R. Hannequin, D. Melki, J. Toutain, A. Laugel, V. Forlani, S. Charles, P. Broussolle, E. Thobois, S. Afenjar, A. Anheim, M. Calvas, P. Castelnovo, G. De Broucker, T. Vidailhet, M. Moulignier, A. Ghnassia, R.T. Tallaksen, C. Mignot, C. Goizet, C. Le Ber, I. Ollagnon-Roman, E. Pouget, J. Brice, A. Singleton, A. Durr, A. Belarabi, S. Hamri, A. Tazir, M. Boesch, S. Pandolfo, M. Ullmann, U. Jardim, L. Guergueltcheva, V. Tournev, I. Soong, B.-W. Linarès, O.L.P. Nielsen, J.E. Svenstrup, K. Zaki, M. Azulay, J.-P. Banneau, G. Boesfplug-Tanguy, O. Burgo, A. Cazeneuve, C. Darios, F. Depienne, C. Duyckaerts, C. Fontaine, B. Hazan, J. Koenig, M. Marelli, C. N'guyen, K. Rodriguez, D. Sittler, A. Verny, C. Bauer, P. Schöls, L. Schüle, R. Koutsis, G. Lossos, A. Antenora, A. Bassi, M.T. Basso, M. Bertini, E. Brusco, A. Casali, C. Casari, G. Criscuolo, C. Filla, A. Lieto, M. Orsi, L. Santorelli, F.M. Valente, E.M. Vavla, M. Vazza, G. Megarbane, A. Benomar, A. Roxburgh, R. Erichsen, A.K. Alonso, I. Coutinho, P. Loureiro, J.L. Sequeiros, J. Salih, M. Kostic, V.S. Axpe, I.R. Roumani, S. Kremer, B. Van Roon-Mom, W. Boukhris, A. Mhiri, C. Karabay, A. Nethisinghe, S. Okane, C. Oliva, M. Reid, E. Warner, T. Wood, N. Spastic Paraplegia Ataxia Network

IMPORTANCE Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investiga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::f6b68737324ff67eb7f8a20a311aa1bb
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3107432

Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group.

Autor: Harding IH; Department of Neuroscience, Central Clinical School, Monash University, Melbourne, VIC, Australia.; Monash Biomedical Imaging, Monash University, Clayton, VIC, Australia., Chopra S; Monash Biomedical Imaging, Monash University, Clayton, VIC, Australia.; School of Psychological Sciences, Turner Institute for Brain and Mental Health, Monash University, Clayton, VIC, Australia., Arrigoni F; Neuroimaging Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy., Boesch S; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Brunetti A; Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy., Cocozza S; Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy., Corben LA; School of Psychological Sciences, Turner Institute for Brain and Mental Health, Monash University, Clayton, VIC, Australia.; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; University of Melbourne, Parkville, VIC, Australia., Deistung A; University Clinic and Outpatient Clinic for Radiology, Department for Radiation Medicine, University Hospital Halle (Saale), Halle (Saale), Germany.; Department of Neurology, Essen University Hospital, University of Duisburg-Essen, Essen, Germany., Delatycki M; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia., Diciotti S; Department of Electrical, Electronic, and Information Engineering 'Guglielmo Marconi,', University of Bologna, Bologna, Italy., Dogan I; Department of Neurology, RWTH Aachen University, Aachen, Germany.; JARA-BRAIN Institute, Molecular Neuroscience and Neuroimaging, Research Center Jülich, Jülich, Germany., Evangelisti S; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., França MC Jr; Department of Neurology, School of Medical Sciences, University of Campinas, Campinas, Brazil.; Brazilian Institute of Neuroscience and Neurotechnology, School of Medical Sciences, University of Campinas, Campinas, Brazil., Göricke SL; Institute of Diagnostic and Interventional Radiology and Neuroradiology, Essen University Hospital, University of Duisburg-Essen, Essen, Germany., Georgiou-Karistianis N; School of Psychological Sciences, Turner Institute for Brain and Mental Health, Monash University, Clayton, VIC, Australia., Gramegna LL; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; IRCCS Institute of Neurological Sciences of Bologna, Functional and Molecular Neuroimaging Unit, Bologna, Italy., Henry PG; Department of Radiology, Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN., Hernandez-Castillo CR; Faculty of Computer Science, Dalhousie University, Halifax, NS, Canada.; CONACYT-Institute of Neuroethology, University of Veracruz, Xalapa, Mexico., Hutter D; Department of Radiology, Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN., Jahanshad N; Imaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, Keck School of Medicine, University of Southern California, Marina del Rey, CA., Joers JM; Department of Radiology, Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN., Lenglet C; Department of Radiology, Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN., Lodi R; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy., Manners DN; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Martinez ARM; Department of Neurology, School of Medical Sciences, University of Campinas, Campinas, Brazil.; Brazilian Institute of Neuroscience and Neurotechnology, School of Medical Sciences, University of Campinas, Campinas, Brazil., Martinuzzi A; Scientific Institute, IRCCS Eugenio Medea, Conegliano-Pieve di Soligo Research Center, Conegliano, Italy., Marzi C; Department of Electrical, Electronic, and Information Engineering 'Guglielmo Marconi,', University of Bologna, Bologna, Italy., Mascalchi M; Department of Clinical and Experimental Biomedical Sciences 'Mario Serio,', University of Florence, Florence, Italy.; Clinical Epidemiology Unit, ISPRO, Oncological Network, Prevention and Research Institute, Florence, Italy., Nachbauer W; Medical University of Innsbruck, Innsbruck, Austria., Pane C; NSRO Department, University of Naples Federico II, Naples, Italy., Peruzzo D; Neuroimaging Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy., Pisharady PK; Department of Radiology, Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN., Pontillo G; Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.; Department of Electrical Engineering and Information Technology, University of Naples Federico II, Naples, Italy., Reetz K; Department of Neurology, RWTH Aachen University, Aachen, Germany.; JARA-BRAIN Institute, Molecular Neuroscience and Neuroimaging, Research Center Jülich, Jülich, Germany., Rezende TJR; Department of Neurology, School of Medical Sciences, University of Campinas, Campinas, Brazil.; Brazilian Institute of Neuroscience and Neurotechnology, School of Medical Sciences, University of Campinas, Campinas, Brazil., Romanzetti S; Department of Neurology, RWTH Aachen University, Aachen, Germany.; JARA-BRAIN Institute, Molecular Neuroscience and Neuroimaging, Research Center Jülich, Jülich, Germany., Saccà F; NSRO Department, University of Naples Federico II, Naples, Italy., Scherfler C; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.; Neuroimaging Research Core Facility, Medical University of Innsbruck, Innsbruck, Austria., Schulz JB; Department of Neurology, RWTH Aachen University, Aachen, Germany.; JARA-BRAIN Institute, Molecular Neuroscience and Neuroimaging, Research Center Jülich, Jülich, Germany., Stefani A; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Testa C; Department of Physics and Astronomy, University of Bologna, Bologna, Italy., Thomopoulos SI; Imaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, Keck School of Medicine, University of Southern California, Marina del Rey, CA., Timmann D; Department of Neurology, Essen University Hospital, University of Duisburg-Essen, Essen, Germany., Tirelli S; Neuroimaging Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy., Tonon C; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; IRCCS Institute of Neurological Sciences of Bologna, Functional and Molecular Neuroimaging Unit, Bologna, Italy., Vavla M; Scientific Institute, IRCCS Eugenio Medea, Conegliano-Pieve di Soligo Research Center, Conegliano, Italy., Egan GF; Monash Biomedical Imaging, Monash University, Clayton, VIC, Australia.; School of Psychological Sciences, Turner Institute for Brain and Mental Health, Monash University, Clayton, VIC, Australia., Thompson PM; Imaging Genetics Center, Mark and Mary Stevens Institute for Neuroimaging and Informatics, Keck School of Medicine, University of Southern California, Marina del Rey, CA.

Publikováno v: Annals of neurology [Ann Neurol] 2021 Oct; Vol. 90 (4), pp. 570-583. Date of Electronic Publication: 2021 Sep 17.