Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Autor: Chelban V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. v.chelban@ucl.ac.uk.; Neurobiology and Medical Genetics Laboratory, 'Nicolae Testemitanu' State University of Medicine and Pharmacy, 165, Stefan cel Mare si Sfant Boulevard, MD, 2004, Chisinau, Republic of Moldova. v.chelban@ucl.ac.uk., Aksnes H; Department of Biomedicine, University of Bergen, Bergen, Norway. henriette.aksnes@uib.no., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., LaMonica LC; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA., Seabra L; Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France., Siggervåg A; Department of Biomedicine, University of Bergen, Bergen, Norway., Devic P; Hospices Civils de Lyon, Groupement Hospitalier Sud, Service d'Explorations Fonctionnelles Neurologiques, Lyon, France., Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Richard AC; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France., Quenez O; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France., Bonnevalle A; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France., Zanetti MN; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; South Kazakhstan Medical Academy Shymkent, Shymkent, 160019, Kazakhstan., Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Schottlaender LV; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Instituto de Investigaciones en Medicina Traslacional (IIMT), CONICET-Universidad Austral, Av. Juan Domingo Perón 1500, B1629AHJ, Pilar, Argentina.; Instituto de medicina genómica (IMeG), Hospital Universitario Austral, Universidad Austral, Av. Juan Domingo Perón 1500, B1629AHJ, Pilar, Argentina., Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Tariq A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Pagnamenta AT; Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, Oxford, United Kingdom., Pennavaria A; Department of Biomedicine, University of Bergen, Bergen, Norway., Krogstad LS; Department of Biomedicine, University of Bergen, Bergen, Norway., Bekkelund ÅK; Department of Biomedicine, University of Bergen, Bergen, Norway., Caiella A; Department of Biomedicine, University of Bergen, Bergen, Norway., Glomnes N; Department of Biomedicine, University of Bergen, Bergen, Norway.; Department of Clinical Science, University of Bergen, 5020, Bergen, Norway., Brønstad KM; Department of Biomedicine, University of Bergen, Bergen, Norway., Tury S; Institut de Recherche en Infectiologie de Montpellier, Université de Montpellier, CNRS, Montpellier, France., Moreno De Luca A; Department of Radiology, Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada., Boland-Auge A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France., Olaso R; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France., Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France., Anheim M; Neurology Department, Strasbourg University Hospital, Strasbourg, France.; Strasbourg Federation of Translational Medicine (FMTS), Strasbourg University, Strasbourg, France.; INSERM-U964; CNRS-UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France., Cretin B; Neurology Department, Strasbourg University Hospital, Strasbourg, France.; Strasbourg Federation of Translational Medicine (FMTS), Strasbourg University, Strasbourg, France.; INSERM-U964; CNRS-UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France., Vona B; Institute of Human Genetics, University Medical Center Göttingen, 37073, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075, Göttingen, Germany., Alajlan F; Department of Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Battini JL; Institut de Recherche en Infectiologie de Montpellier, Université de Montpellier, CNRS, Montpellier, France., İpek R; Paediatric Neurology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey., Bauer P; Centogene GmbH, Am Strande 7, 18055, Rostock, Germany., Zifarelli G; Centogene GmbH, Am Strande 7, 18055, Rostock, Germany., Gungor S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatrics, Division of Pediatric Neurology, Malatya, Turkey., Kurul SH; Dokuz Eylul University, School of Medicine, Department of Paediatric Neurology, Izmir, Turkey., Lochmuller H; Children's Hospital of Eastern Ontario Research Institute and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany., Da'as SI; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Weill Cornell Medical College, Doha, Qatar., Gómez-Pascual A; Department of Information and Communications Engineering, University of Murcia, Campus Espinardo, 30100, Murcia, Spain., Botía JA; Department of Information and Communications Engineering, University of Murcia, Campus Espinardo, 30100, Murcia, Spain., Wood NW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Ernst AM; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.; School of Biological Sciences, Department of Cell and Developmental Biology, University of California San Diego, La Jolla, CA, USA., Rothman JE; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., McEntagart M; Medical Genetics Department, St George's University Hospitals, London, SWI7 0RE, UK., Crow YJ; Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Nicolas G; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France., Arnesen T; Department of Biomedicine, University of Bergen, Bergen, Norway. thomas.arnesen@uib.no.; Department of Surgery, Haukeland University Hospital, Bergen, Norway. thomas.arnesen@uib.no., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.

Publikováno v: Nature communications [Nat Commun] 2024 Mar 13; Vol. 15 (1), pp. 2269. Date of Electronic Publication: 2024 Mar 13.

A 30-year history of MPAN case from Russia.

Autor: Selikhova M; Reta Lila Weston Institute of Neurological Studies, UCL,1 Wakefield Street, London WC1N 1PJ, United Kingdom. Electronic address: m.selikhova@talk21.com., Fedotova E; Research Center of Neurology, Department of Neurogenetics, Moscow, Russia., Wiethoff S; Institute of Neurology, Department of Molecular Neurosciences, UCL, United Kingdom., Schottlaender LV; Institute of Neurology, Department of Molecular Neurosciences, UCL, United Kingdom., Klyushnikov S; Research Center of Neurology, Department of Neurogenetics, Moscow, Russia., Illarioshkin SN; Research Center of Neurology, Department of Neurogenetics, Moscow, Russia., Houlden H; Institute of Neurology, Department of Molecular Neurosciences, UCL, United Kingdom.

Publikováno v: Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2017 Aug; Vol. 159, pp. 111-113. Date of Electronic Publication: 2017 Jun 02.

Erratum to "The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism" [Neurobiol. Aging 36 (2015) 1221.e1-1221.e6].

Autor: Schottlaender LV, Polke JM, Ling H, MacDoanld ND, Tucci A, Nanji T, Pittman A, de Silva R, Holton JL, Revesz T, Sweeney MG, Singleton AB, Lees AJ, Bhatia KP, Houlden H

Publikováno v: Neurobiology of aging [Neurobiol Aging] 2015 Apr; Vol. 36 (4), pp. 1768. Date of Electronic Publication: 2015 Mar 19.

Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.

Autor: Schottlaender LV; Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK., Polke JM; Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Neurogenetics Laboratory, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK., Ling H; Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Reta Lila Weston Institute for Neurological Studies, The Queen Square Brain Bank, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK., MacDoanld ND; The MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK., Tucci A; Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK., Nanji T; Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Neurogenetics Laboratory, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK., Pittman A; Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Reta Lila Weston Institute for Neurological Studies, The Queen Square Brain Bank, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK., de Silva R; Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Reta Lila Weston Institute for Neurological Studies, The Queen Square Brain Bank, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK., Holton JL; Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Reta Lila Weston Institute for Neurological Studies, The Queen Square Brain Bank, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK., Revesz T; Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Reta Lila Weston Institute for Neurological Studies, The Queen Square Brain Bank, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK., Sweeney MG; Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Neurogenetics Laboratory, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK., Singleton AB; Laboratory of Neurogenetics, NIA, NIH, Bethesda, MD, USA., Lees AJ; Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Reta Lila Weston Institute for Neurological Studies, The Queen Square Brain Bank, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK., Bhatia KP; The Sobell Department of Movement Disorders, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK., Houlden H; Department of Molecular Neuroscience, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; Neurogenetics Laboratory, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK; The MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK. Electronic address: h.houlden@ucl.ac.uk.

Publikováno v: Neurobiology of aging [Neurobiol Aging] 2015 Feb; Vol. 36 (2), pp. 1221.e1-6. Date of Electronic Publication: 2014 Aug 27.

Multiple system atrophy and repeat expansions in C9orf72.

Autor: Schottlaender LV; Department of Molecular Neuroscience, and the Queen Square Brain Bank, University College London Institute of Neurology, London, England., Holton JL; Department of Molecular Neuroscience, and the Queen Square Brain Bank, University College London Institute of Neurology, London, England., Houlden H; Department of Molecular Neuroscience, and the Queen Square Brain Bank, University College London Institute of Neurology, London, England.

Publikováno v: JAMA neurology [JAMA Neurol] 2014 Sep; Vol. 71 (9), pp. 1190-1.