A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia.

Autor: Kadirvelu B; Brain & Behaviour Lab, Department of Bioengineering, Imperial College London, London, UK.; Brain & Behaviour Lab, Department of Computing, Imperial College London, London, UK., Gavriel C; Brain & Behaviour Lab, Department of Bioengineering, Imperial College London, London, UK.; Brain & Behaviour Lab, Department of Computing, Imperial College London, London, UK., Nageshwaran S; Epigenetic Mechanisms and Disease Group, Department of Brain Sciences, Imperial College London, London, UK., Chan JPK; Epigenetic Mechanisms and Disease Group, Department of Brain Sciences, Imperial College London, London, UK., Nethisinghe S; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London, UK., Athanasopoulos S; Epigenetic Mechanisms and Disease Group, Department of Brain Sciences, Imperial College London, London, UK., Ricotti V; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK., Voit T; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK., Giunti P; Institute of Neurology, UCL, National Hospital for Neurology and Neurosurgery (UCLH), London, UK., Festenstein R; Epigenetic Mechanisms and Disease Group, Department of Brain Sciences, Imperial College London, London, UK.; Institute of Neurology, UCL, National Hospital for Neurology and Neurosurgery (UCLH), London, UK.; MRC London Institute of Medical Sciences, London, UK., Faisal AA; Brain & Behaviour Lab, Department of Bioengineering, Imperial College London, London, UK. aldo.faisal@imperial.ac.uk.; Brain & Behaviour Lab, Department of Computing, Imperial College London, London, UK. aldo.faisal@imperial.ac.uk.; MRC London Institute of Medical Sciences, London, UK. aldo.faisal@imperial.ac.uk.; Behaviour Analytics Lab, Data Science Institute, Imperial College London, London, UK. aldo.faisal@imperial.ac.uk.; Brain & Behaviour Lab, Institute for Artificial and Human Intelligence, University of Bayreuth, Bayreuth, Germany. aldo.faisal@imperial.ac.uk.; Chair in Digital Health, Faculty of Life Sciences, University of Bayreuth, Bayreuth, Germany. aldo.faisal@imperial.ac.uk.

Publikováno v: Nature medicine [Nat Med] 2023 Jan; Vol. 29 (1), pp. 86-94. Date of Electronic Publication: 2023 Jan 19.

Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization.

Autor: Romano LEL; Faculty of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Aw WY; UNC Catalyst for Rare Diseases, Eshelman School of Pharmacy, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Hixson KM; UNC Catalyst for Rare Diseases, Eshelman School of Pharmacy, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Novoselova TV; Faculty of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK; Department of Natural Sciences, Faculty of Science and Technology, Middlesex University, London NW4 4BT, UK., Havener TM; UNC Catalyst for Rare Diseases, Eshelman School of Pharmacy, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Howell S; UNC Catalyst for Rare Diseases, Eshelman School of Pharmacy, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Taylor-Blake B; UNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Hall CL; Faculty of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Xing L; UNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Beri J; Department of Pharmacology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; UNC Michael Hooker Proteomics Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Nethisinghe S; Faculty of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Perna L; Faculty of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Hatimy A; Institute of Structural and Molecular Biology, Division of Biosciences, University College London, London WC1E 6BT, UK., Altadonna GC; Faculty of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Graves LM; Institute of Structural and Molecular Biology, Division of Biosciences, University College London, London WC1E 6BT, UK; Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Herring LE; Department of Pharmacology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; UNC Michael Hooker Proteomics Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Hickey AJ; UNC Catalyst for Rare Diseases, Eshelman School of Pharmacy, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Thalassinos K; Institute of Structural and Molecular Biology, Division of Biosciences, University College London, London WC1E 6BT, UK; Institute of Structural and Molecular Biology, Birkbeck College, University of London, London WC1E 7HX, UK., Chapple JP; Faculty of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK. Electronic address: j.p.chapple@qmul.ac.uk., Wolter JM; UNC Catalyst for Rare Diseases, Eshelman School of Pharmacy, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; UNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. Electronic address: justin_wolter@med.unc.edu.

Publikováno v: Cell reports [Cell Rep] 2022 Nov 01; Vol. 41 (5), pp. 111580.

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

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner.

Autor: Nethisinghe S; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Kesavan M; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Ging H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Labrum R; Neurogenetics Service, Rare and Inherited Disease Laboratory, London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3BH, UK., Polke JM; Neurogenetics Service, Rare and Inherited Disease Laboratory, London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3BH, UK., Islam S; UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Garcia-Moreno H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Callaghan MF; Wellcome Centre for Human Neuroimaging, UCL Queen Square Institute of Neurology, University College London, London WC1N 3AR, UK., Cavalcanti F; Institute for Biomedical Research and Innovation (IRIB), Italian National Research Council (CNR), 87050 Mangone, Italy., Pook MA; Ataxia Research Group, Division of Biosciences, Department of Life Sciences, College of Health and Life Sciences, Brunel University London, Uxbridge UB8 3PH, UK.; Synthetic Biology Theme, Institute of Environment, Health and Societies, Brunel University London, Uxbridge UB8 3PH, UK., Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2021 Jul 13; Vol. 22 (14). Date of Electronic Publication: 2021 Jul 13.

Molecular Mechanisms of Spinocerebellar Ataxia Type 17.

Autor: Davidenko A; Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Moscow, 119435, Russia. davidenko.av@rcpcm.ru.; Lomonosov Moscow State University, Moscow, 119991, Russia. davidenko.av@rcpcm.ru., Bogomazova A; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Federal Research and Clinical Center of Physical-Chemical Medicine, Federal Medical Biological Agency, Moscow, 119435, Russia., Illarioshkin S; Research Center of Neurology, Moscow, 125367, Russia., Lagarkova M; Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Moscow, 119435, Russia.

Publikováno v: Molecular neurobiology [Mol Neurobiol] 2024 Nov 30. Date of Electronic Publication: 2024 Nov 30.