Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Autor: Steel, D, Zech, M, Zhao, C, Barwick, KES, Burke, D, Demailly, D, Kumar, KR, Zorzi, G, Nardocci, N, Kaiyrzhanov, R, Wagner, M, Iuso, A, Berutti, R, Škorvánek, M, Necpál, J, Davis, R, Wiethoff, S, Mankad, K, Sudhakar, S, Ferrini, A, Sharma, S, Kamsteeg, E-J, Tijssen, MA, Verschuuren, C, van Egmond, ME, Flowers, JM, McEntagart, M, Tucci, A, Coubes, P, Bustos, BI, Gonzalez-Latapi, P, Tisch, S, Darveniza, P, Gorman, KM, Peall, KJ, Bötzel, K, Koch, JC, Kmieć, T, Plecko, B, Boesch, S, Haslinger, B, Jech, R, Garavaglia, B, Wood, N, Houlden, H, Gissen, P, Lubbe, SJ, Sue, CM, Cif, L, Mencacci, NE, Anderson, G, Kurian, MA, Winkelmann, J, Genomics England Research Consortium

OBJECTIVES: The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognized. We aimed to investigate this paucity of diagnoses. METHODS: We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::e01c3c009fa656fa2127e5a51b7048f4
https://openaccess.sgul.ac.uk/id/eprint/112563/1/ana.25879.pdf

Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease.

Autor: Purzycka-Olewiecka JK; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Hetmańczyk-Sawicka K; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Kmieć T; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland., Szczęśniak D; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Trubicka J; Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland., Krawczyński M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Center for Medical Genetics GENESIS, Poznan, Poland., Pronicki M; Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland., Ługowska A; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland. alugipin@yahoo.com.

Publikováno v: Metabolic brain disease [Metab Brain Dis] 2023 Feb; Vol. 38 (2), pp. 709-715. Date of Electronic Publication: 2022 Dec 28.

Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.

Autor: Zanuttigh E; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Derderian K; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Güra MA; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Geerlof A; Protein Expression and Purification Facility, Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Di Meo I; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Cavestro C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Hempfling S; Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Bavarian NMR Centre, Department of Bioscience, School of Natural Sciences, Technical University of Munich, 85747 Garching, Germany., Ortiz-Collazos S; Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Bavarian NMR Centre, Department of Bioscience, School of Natural Sciences, Technical University of Munich, 85747 Garching, Germany., Mauthe M; Molecular Cell Biology Section, Department of Biomedical Sciences of Cells & Systems, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, 9713 AV Groningen, The Netherlands., Kmieć T; Department of Neurology and Epileptology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Cammarota E; Alembic, Experimental Imaging Center, IRCCS San Raffaele Hospital, 20132 Milan, Italy., Panzeri MC; Alembic, Experimental Imaging Center, IRCCS San Raffaele Hospital, 20132 Milan, Italy., Klopstock T; Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU), 80336 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany., Sattler M; Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Bavarian NMR Centre, Department of Bioscience, School of Natural Sciences, Technical University of Munich, 85747 Garching, Germany., Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, 81675 Munich, Germany., Messias AC; Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Bavarian NMR Centre, Department of Bioscience, School of Natural Sciences, Technical University of Munich, 85747 Garching, Germany., Iuso A; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, 81675 Munich, Germany.

Publikováno v: Pharmaceutics [Pharmaceutics] 2023 Jan 12; Vol. 15 (1). Date of Electronic Publication: 2023 Jan 12.

Cardiac symptoms in cases of neurodegeneration associated with mutations in C19orf12

Autor: Skowronska, M., Kmiec, T., Buksinska-Lisik, M., Litwin, T., Kurkowska-Jastrzebska, I., Czlonkowska, A.

Publikováno v: In Parkinsonism and Related Disorders October 2020 79 Supplement 1:e116-e116