Zobrazeno 1 - 10
of 664
pro vyhledávání: '"Macao B"'
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
Autor:
Erdinc D; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg SE-40530, Sweden., Macao B; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg SE-40530, Sweden., Valenzuela S; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg SE-40530, Sweden., Lesko N; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm SE-17177, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Naess K; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm SE-17177, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Peter B; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg SE-40530, Sweden., Bruhn H; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm SE-17177, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Wedell A; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Wredenberg A; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm SE-17177, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden. Electronic address: anna.wredenberg@ki.se., Falkenberg M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg SE-40530, Sweden. Electronic address: maria.falkenberg@medkem.gu.se.
Publikováno v:
Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2023 Oct; Vol. 1869 (7), pp. 166786. Date of Electronic Publication: 2023 Jun 10.
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Autor:
Percetti M; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Neurology Unit, San Gerardo Hospital, ASST Monza, Monza, Italy., Franco G; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Monfrini E; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Minardi R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Valentino ML; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Liguori R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Palmieri I; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Ottaviani D; Neurology Unit, Rovereto Hospital, Azienda Provinciale per i Servizi Sanitari (APSS) di Trento, Trento, Italy., Vizziello M; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Ronchi D; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Di Berardino F; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Audiology Unit, Milan, Italy., Cocco A; University of Milan, Milan, Italy.; Department of Neurology, Istituto di Ricovero e Cura a Carattere Scientifico Humanitas, Research Hospital, Milan, Italy., Macao B; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Falkenberg M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden., Comi GP; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Albanese A; Department of Neurology, Istituto di Ricovero e Cura a Carattere Scientifico Humanitas, Research Hospital, Milan, Italy., Giometto B; Neurology Unit, Rovereto Hospital, Azienda Provinciale per i Servizi Sanitari (APSS) di Trento, Trento, Italy., Valente EM; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Di Fonzo A; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Sep; Vol. 37 (9), pp. 1938-1943. Date of Electronic Publication: 2022 Jul 06.
Autor:
Silva-Pinheiro P; MRC/University of Cambridge Mitochondrial Biology Unit, Hills Road, CB2 0XY Cambridge, UK., Pardo-Hernández C; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Medicinaregatan 9A P.O. Box 440, SE405 30 Gothenburg, Sweden., Reyes A; MRC/University of Cambridge Mitochondrial Biology Unit, Hills Road, CB2 0XY Cambridge, UK., Tilokani L; MRC/University of Cambridge Mitochondrial Biology Unit, Hills Road, CB2 0XY Cambridge, UK., Mishra A; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Medicinaregatan 9A P.O. Box 440, SE405 30 Gothenburg, Sweden., Cerutti R; Department of Neurosciences, University of Padova, via Giustiniani, 2-35128 Padova, Italy., Li S; Center for Cancer Biology, Life Science of Institution, Zhejiang University, Hangzhou 310058, China., Rozsivalova DH; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and Center for Molecular Medicine (CMMC), University of Cologne, Joseph-Stelzmann-Strasse 26, 50931 Cologne, Germany., Valenzuela S; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Medicinaregatan 9A P.O. Box 440, SE405 30 Gothenburg, Sweden., Dogan SA; Department of Molecular Biology and Genetics, Center for Life Sciences and Technologies, Bogazici University, 34342 Istanbul, Turkey., Peter B; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Medicinaregatan 9A P.O. Box 440, SE405 30 Gothenburg, Sweden., Fernández-Silva P; Biochemistry and Molecular and Cell Biology Department, University of Zaragoza, C/ Pedro Cerbuna s/n 50.009-Zaragoza, and Biocomputation and Complex Systems Physics Institute (BIFI), C/ Mariano Esquillor, 50.018-Zaragoza, Spain., Trifunovic A; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and Center for Molecular Medicine (CMMC), University of Cologne, Joseph-Stelzmann-Strasse 26, 50931 Cologne, Germany., Prudent J; MRC/University of Cambridge Mitochondrial Biology Unit, Hills Road, CB2 0XY Cambridge, UK., Minczuk M; MRC/University of Cambridge Mitochondrial Biology Unit, Hills Road, CB2 0XY Cambridge, UK., Bindoff L; Department of Clinical Medicine, University of Bergen, 5007 Bergen, Norway.; Neuro-SysMed, Department of Neurology, Haukeland University Hospital, Jonas Lies vei 65, 5021 Bergen, Norway., Macao B; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Medicinaregatan 9A P.O. Box 440, SE405 30 Gothenburg, Sweden., Zeviani M; Department of Neurosciences, University of Padova, via Giustiniani, 2-35128 Padova, Italy.; Venetian Institute of Molecular Medicine, via Orus 2-35128 Padova, Italy., Falkenberg M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Medicinaregatan 9A P.O. Box 440, SE405 30 Gothenburg, Sweden., Viscomi C; Department of Biomedical Sciences, University of Padova, via Ugo Bassi 58/B-35131 Padova, Italy.
Publikováno v:
Nucleic acids research [Nucleic Acids Res] 2021 Oct 11; Vol. 49 (18), pp. 10803.
Autor:
Jiang M; Key Laboratory of Growth Regulation and Translational Research of Zhejiang Province, School of Life Sciences, Westlake University, Hangzhou, Zhejiang 310024, China.; Department of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, 50931 Cologne, Germany., Xie X; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, PO Box 440, Gothenburg 405 30, Sweden., Zhu X; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, PO Box 440, Gothenburg 405 30, Sweden., Jiang S; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm 17177, Sweden., Milenkovic D; Department of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, 50931 Cologne, Germany., Misic J; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm 17177, Sweden., Shi Y; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, PO Box 440, Gothenburg 405 30, Sweden., Tandukar N; Lineberger Comprehensive Cancer Center, Department of Microbiology and Immunology, University of North Carolina, Chapel Hill, NC 27514, USA., Li X; Proteomics Core Facility, Max Planck Institute for Biology of Ageing, 50931 Cologne, Germany., Atanassov I; Proteomics Core Facility, Max Planck Institute for Biology of Ageing, 50931 Cologne, Germany., Jenninger L; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, PO Box 440, Gothenburg 405 30, Sweden., Hoberg E; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, PO Box 440, Gothenburg 405 30, Sweden., Albarran-Gutierrez S; Department of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, 50931 Cologne, Germany., Szilagyi Z; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, PO Box 440, Gothenburg 405 30, Sweden., Macao B; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, PO Box 440, Gothenburg 405 30, Sweden., Siira SJ; Harry Perkins Institute of Medical Research and ARC Centre of Excellence in Synthetic Biology, Nedlands, WA 6009, Australia.; Telethon Kids Institute, Northern Entrance, Perth Children's Hospital, 15 Hospital Avenue, Nedlands, WA, Australia., Carelli V; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Griffith JD; Lineberger Comprehensive Cancer Center, Department of Microbiology and Immunology, University of North Carolina, Chapel Hill, NC 27514, USA., Gustafsson CM; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, PO Box 440, Gothenburg 405 30, Sweden., Nicholls TJ; Wellcome Centre for Mitochondrial Research, Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Filipovska A; Harry Perkins Institute of Medical Research and ARC Centre of Excellence in Synthetic Biology, Nedlands, WA 6009, Australia.; Telethon Kids Institute, Northern Entrance, Perth Children's Hospital, 15 Hospital Avenue, Nedlands, WA, Australia., Larsson NG; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm 17177, Sweden. nils-goran.larsson@ki.se maria.falkenberg@medkem.gu.se., Falkenberg M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, PO Box 440, Gothenburg 405 30, Sweden. nils-goran.larsson@ki.se maria.falkenberg@medkem.gu.se.
Publikováno v:
Science advances [Sci Adv] 2021 Jul 02; Vol. 7 (27). Date of Electronic Publication: 2021 Jul 02 (Print Publication: 2021).
Autor:
Silva-Pinheiro P; MRC/University of Cambridge Mitochondrial Biology Unit, Hills Road, CB2 0XY Cambridge, UK., Pardo-Hernández C; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Medicinaregatan 9A P.O. Box 440, SE405 30 Gothenburg, Sweden., Reyes A; MRC/University of Cambridge Mitochondrial Biology Unit, Hills Road, CB2 0XY Cambridge, UK., Tilokani L; MRC/University of Cambridge Mitochondrial Biology Unit, Hills Road, CB2 0XY Cambridge, UK., Mishra A; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Medicinaregatan 9A P.O. Box 440, SE405 30 Gothenburg, Sweden., Cerutti R; Department of Neurosciences, University of Padova, via Giustiniani, 2-35128 Padova, Italy., Li S; Center for Cancer Biology, Life Science of Institution, Zhejiang University, Hangzhou 310058, China., Rozsivalova DH; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and Center for Molecular Medicine (CMMC), University of Cologne, Joseph-Stelzmann-Strasse 26, 50931 Cologne, Germany., Valenzuela S; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Medicinaregatan 9A P.O. Box 440, SE405 30 Gothenburg, Sweden., Dogan SA; Department of Molecular Biology and Genetics, Center for Life Sciences and Technologies, Bogazici University, 34342 Istanbul, Turkey., Peter B; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Medicinaregatan 9A P.O. Box 440, SE405 30 Gothenburg, Sweden., Fernández-Silva P; Biochemistry and Molecular and Cell Biology Department, University of Zaragoza, C/ Pedro Cerbuna s/n 50.009-Zaragoza, and Biocomputation and Complex Systems Physics Institute (BIFI), C/ Mariano Esquillor, 50.018-Zaragoza, Spain., Trifunovic A; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and Center for Molecular Medicine (CMMC), University of Cologne, Joseph-Stelzmann-Strasse 26, 50931 Cologne, Germany., Prudent J; MRC/University of Cambridge Mitochondrial Biology Unit, Hills Road, CB2 0XY Cambridge, UK., Minczuk M; MRC/University of Cambridge Mitochondrial Biology Unit, Hills Road, CB2 0XY Cambridge, UK., Bindoff L; Department of Clinical Medicine, University of Bergen, 5007 Bergen, Norway.; Neuro-SysMed, Department of Neurology, Haukeland University Hospital, Jonas Lies vei 65, 5021 Bergen, Norway., Macao B; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Medicinaregatan 9A P.O. Box 440, SE405 30 Gothenburg, Sweden., Zeviani M; Department of Neurosciences, University of Padova, via Giustiniani, 2-35128 Padova, Italy.; Venetian Institute of Molecular Medicine, via Orus 2-35128 Padova, Italy., Falkenberg M; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Medicinaregatan 9A P.O. Box 440, SE405 30 Gothenburg, Sweden., Viscomi C; Department of Biomedical Sciences, University of Padova, via Ugo Bassi 58/B-35131 Padova, Italy.
Publikováno v:
Nucleic acids research [Nucleic Acids Res] 2021 May 21; Vol. 49 (9), pp. 5230-5248.
Autor:
Ammam, Ianis1,2 (AUTHOR) ianis.ammam@ec-lyon.fr, Pailler-Mattéi, Cyril1 (AUTHOR), Ouillon, Lucas1 (AUTHOR), Nivet, Clément3 (AUTHOR), Vargiolu, Roberto1 (AUTHOR), Neiers, Fabrice3 (AUTHOR), Canon, Francis3 (AUTHOR), Zahouani, Hassan1 (AUTHOR)
Publikováno v:
Scientific Reports. 12/28/2024, Vol. 14 Issue 1, p1-12. 12p.
Autor:
Darin N; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden. Electronic address: niklas.darin@vgregion.se., Siibak T; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Box 440, 40530 Gothenburg, Sweden., Peter B; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Box 440, 40530 Gothenburg, Sweden., Hedberg-Oldfors C; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Kollberg G; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Kalbin V; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Box 440, 40530 Gothenburg, Sweden., Moslemi AR; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Macao B; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Box 440, 40530 Gothenburg, Sweden., Oldfors A; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Falkenberg M; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Box 440, 40530 Gothenburg, Sweden. Electronic address: maria.falkenberg@medkem.gu.se.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Apr; Vol. 31 (4), pp. 348-358. Date of Electronic Publication: 2021 Jan 12.
Autor:
Hedberg-Oldfors, C., Macao, B., Basu, S., Uhler, J., Erdinc, D., Peter, B., Lindberg, C., Larsson, E., Falkenberg, M., Oldfors, A.
Publikováno v:
In Neuromuscular Disorders October 2019 29 Supplement 1:S70-S71
Autor:
Hedberg-Oldfors C; Department of Pathology and Genetics (C.H.-O., A.O.) and Medical Biochemistry and Cell Biology (B.M., S.B., B.P., D.E., J.P.U., E.L., M.F.), University of Gothenburg; and Neuromuscular Centre (C.L.), Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden., Macao B; Department of Pathology and Genetics (C.H.-O., A.O.) and Medical Biochemistry and Cell Biology (B.M., S.B., B.P., D.E., J.P.U., E.L., M.F.), University of Gothenburg; and Neuromuscular Centre (C.L.), Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden., Basu S; Department of Pathology and Genetics (C.H.-O., A.O.) and Medical Biochemistry and Cell Biology (B.M., S.B., B.P., D.E., J.P.U., E.L., M.F.), University of Gothenburg; and Neuromuscular Centre (C.L.), Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden., Lindberg C; Department of Pathology and Genetics (C.H.-O., A.O.) and Medical Biochemistry and Cell Biology (B.M., S.B., B.P., D.E., J.P.U., E.L., M.F.), University of Gothenburg; and Neuromuscular Centre (C.L.), Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden., Peter B; Department of Pathology and Genetics (C.H.-O., A.O.) and Medical Biochemistry and Cell Biology (B.M., S.B., B.P., D.E., J.P.U., E.L., M.F.), University of Gothenburg; and Neuromuscular Centre (C.L.), Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden., Erdinc D; Department of Pathology and Genetics (C.H.-O., A.O.) and Medical Biochemistry and Cell Biology (B.M., S.B., B.P., D.E., J.P.U., E.L., M.F.), University of Gothenburg; and Neuromuscular Centre (C.L.), Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden., Uhler JP; Department of Pathology and Genetics (C.H.-O., A.O.) and Medical Biochemistry and Cell Biology (B.M., S.B., B.P., D.E., J.P.U., E.L., M.F.), University of Gothenburg; and Neuromuscular Centre (C.L.), Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden., Larsson E; Department of Pathology and Genetics (C.H.-O., A.O.) and Medical Biochemistry and Cell Biology (B.M., S.B., B.P., D.E., J.P.U., E.L., M.F.), University of Gothenburg; and Neuromuscular Centre (C.L.), Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden., Falkenberg M; Department of Pathology and Genetics (C.H.-O., A.O.) and Medical Biochemistry and Cell Biology (B.M., S.B., B.P., D.E., J.P.U., E.L., M.F.), University of Gothenburg; and Neuromuscular Centre (C.L.), Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden., Oldfors A; Department of Pathology and Genetics (C.H.-O., A.O.) and Medical Biochemistry and Cell Biology (B.M., S.B., B.P., D.E., J.P.U., E.L., M.F.), University of Gothenburg; and Neuromuscular Centre (C.L.), Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2020 Jan 10; Vol. 6 (1), pp. e391. Date of Electronic Publication: 2020 Jan 10 (Print Publication: 2020).
Autor:
Del Dotto V; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Ullah F; Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Faisalabad, Pakistan., Di Meo I; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy., Magini P; Medical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy., Gusic M; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany., Maresca A; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Palombo F; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Tagliavini F; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Baugh EH; Institute for Genomic Medicine, Columbia University, New York, New York, USA., Macao B; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Szilagyi Z; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Peron C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy., Gustafson MA; Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA., Khan K; Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Faisalabad, Pakistan., La Morgia C; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Barboni P; Department of Ophthalmology, Studio Oculistico d'Azeglio, Bologna, Italy., Carbonelli M; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Valentino ML; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Liguori R; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Shashi V; Division of Medical Genetics and., Sullivan J; Division of Medical Genetics and., Nagaraj S; Division of Nephrology, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA., El-Dairi M; Neuro-Ophthalmology Service and., Iannaccone A; Center for Retinal Degenerations and Ophthalmic Genetic Diseases and Visual Function Diagnostic Laboratory, Duke Eye Center, Duke University School of Medicine, Durham, North Carolina, USA., Cutcutache I; Translational Medicine, UCB Pharma, Slough, United Kingdom., Bertini E; Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Carrozzo R; Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Emma F; Division of Nephrology, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, Rome, Italy., Diomedi-Camassei F; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, Rome, Italy., Zanna C; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy., Armstrong M; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium., Page M; Translational Medicine, UCB Pharma, Slough, United Kingdom., Stong N; Institute for Genomic Medicine, Columbia University, New York, New York, USA., Boesch S; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Kopajtich R; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany., Wortmann S; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria., Sperl W; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria., Davis EE; Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA., Copeland WC; Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA., Seri M; Medical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy.; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy., Falkenberg M; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany., Katsanis N; Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Departments of Pediatrics and Cellular and Molecular Biology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Tiranti V; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy., Pippucci T; Medical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy., Carelli V; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2020 Jan 02; Vol. 130 (1), pp. 108-125.