Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions.

Autor: Roos AK; Department of Clinical Sciences, Neurosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 4, Umeå SE-90184, Sweden., Stenvall E; Department of Medical Biosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 2, Umeå SE-90184, Sweden., Kockum ES; Department of Medical Biosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 2, Umeå SE-90184, Sweden., Grönlund KÅ; Department of Clinical Sciences, Neurosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 4, Umeå SE-90184, Sweden., Alstermark H; Department of Clinical Sciences, Neurosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 4, Umeå SE-90184, Sweden., Wuolikainen A; Department of Medical Sciences, Neurology, Uppsala University, Uppsala University Hospital, Entrance 85, Floor 2, Uppsala SE-75185, Sweden., Andersen PM; Department of Clinical Sciences, Neurosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 4, Umeå SE-90184, Sweden., Nordin A; Department of Medical Biosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 2, Umeå SE-90184, Sweden., Forsberg KME; Department of Clinical Sciences, Neurosciences, Umeå University, Norrlands University Hospital, Building 6 M, Floor 4, Umeå SE-90184, Sweden.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2024 Nov 08; Vol. 33 (22), pp. 1966-1974.

Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study.

Autor: Nordin A; a Department of Pharmacology and Clinical Neuroscience , Umeå University , Umeå , Sweden., Akimoto C; b Division of Neurology, Department of Internal Medicine , Jichi Medical University , Tochigi , Japan., Wuolikainen A; c Department of Chemistry , Umeå University , Umeå , Sweden.; d Computational Life Science Cluster (CLIC) , Umeå University , Umeå , Sweden., Alstermark H; a Department of Pharmacology and Clinical Neuroscience , Umeå University , Umeå , Sweden., Forsberg K; e Department of Medical Biosciences , Umeå University , Umeå , Sweden., Baumann P; f Department of Neurology , Central Hospital of Lapland , Rovaniemi , Finland., Pinto S; g Institute of Physiology and Institute of Molecular Medicine , University of Lisbon , Lisbon , Portugal., de Carvalho M; g Institute of Physiology and Institute of Molecular Medicine , University of Lisbon , Lisbon , Portugal.; h Department of Neurosciences , Hospital de Santa Maria-CHLN , Lisbon , Portugal., Hübers A; i Department of Neurology , Ulm University , Ulm , Germany., Nordin F; a Department of Pharmacology and Clinical Neuroscience , Umeå University , Umeå , Sweden., Ludolph AC; i Department of Neurology , Ulm University , Ulm , Germany., Weishaupt JH; i Department of Neurology , Ulm University , Ulm , Germany., Meyer T; j Outpatient Department for ALS and other Motor Neuron Diseases , Charité-Universitätsmedizin Berlin , Berlin , Germany., Grehl T; k Universitätsklinik Bochum , Bochum , Germany., Schweikert K; l Department of Neurology , Neuromuscular Center, Basel University Hospital, University Basel , Basel , Switzerland., Weber M; m Kantonsspital St. Gallen , Neuromuscular Disease Centre/ALS Clinic , Switzerland., Burkhardt C; m Kantonsspital St. Gallen , Neuromuscular Disease Centre/ALS Clinic , Switzerland., Neuwirth C; m Kantonsspital St. Gallen , Neuromuscular Disease Centre/ALS Clinic , Switzerland., Holmøy T; n Department of Neurology , Akershus University Hospital , Lørenskog , Norway.; o Institute of Clinical Medicine , University of Oslo , Norway., Morita M; b Division of Neurology, Department of Internal Medicine , Jichi Medical University , Tochigi , Japan., Tysnes OB; p Department of Neurology , Haukeland University Hospital , Bergen , Norway.; q Department of Clinical Medicine , University of Bergen , Bergen , Norway., Benatar M; r Department of Neurology , University of Miami , Miami , FL , USA., Wuu J; r Department of Neurology , University of Miami , Miami , FL , USA., Lange DJ; s Department of Neurology , Hospital for Special Surgery , New York , USA.; t Department of Neurology , New York-Presbyterian Hospital, Weill-Cornell Medical Center , New York , USA., Bisgård C; u Department of Neurology , Lillebælt Hospital , Vejle , Denmark., Asgari N; u Department of Neurology , Lillebælt Hospital , Vejle , Denmark.; v Department of Neurobiology , Institute of Molecular Medicine, University of Southern Denmark , Odense , Denmark , and., Tarvainen I; w Department of Neurology , Mikkeli Central Hospital , Finland., Brännström T; e Department of Medical Biosciences , Umeå University , Umeå , Sweden., Andersen PM; a Department of Pharmacology and Clinical Neuroscience , Umeå University , Umeå , Sweden.; i Department of Neurology , Ulm University , Ulm , Germany.

Publikováno v: Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2017 May; Vol. 18 (3-4), pp. 256-264. Date of Electronic Publication: 2016 Dec 12.

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD.

Autor: Nordin A; Department of Pharmacology and Clinical Neuroscience., Akimoto C; Department of Pharmacology and Clinical Neuroscience Division of Neurology, Department of Internal Medicine, Jichi Medical University, 3311-1 Yakushiji Shimotsuke-shi, Tochigi 329-0498, Japan., Wuolikainen A; Department of Chemistry Computational Life Science Cluster (CLIC) and., Alstermark H; Department of Pharmacology and Clinical Neuroscience., Jonsson P; Department of Chemistry Computational Life Science Cluster (CLIC) and., Birve A; Department of Pharmacology and Clinical Neuroscience., Marklund SL; Department of Medical Biosciences, Umeå University, Umeå SE-90187, Sweden and., Graffmo KS; Department of Medical Biosciences, Umeå University, Umeå SE-90187, Sweden and., Forsberg K; Department of Medical Biosciences, Umeå University, Umeå SE-90187, Sweden and., Brännström T; Department of Medical Biosciences, Umeå University, Umeå SE-90187, Sweden and., Andersen PM; Department of Pharmacology and Clinical Neuroscience peter.andersen@umu.se.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2015 Jun 01; Vol. 24 (11), pp. 3133-42. Date of Electronic Publication: 2015 Feb 23.

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.

Autor: Akimoto C; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden., Volk AE; Institute of Human Genetics, Ulm University, Ulm, Germany., van Blitterswijk M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Van den Broeck M; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp-CDE, Antwerp, Belgium Diagnostic Service Facility, Laboratory of neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Leblond CS; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada., Lumbroso S; Department of Biochemistry, Nimes University Hospital, Nimes Cedex 9, France., Camu W; Center SLA, Montpellier University Hospital, Hôpital Gui-de-Chauliac, Montpellier Cedex 5, France., Neitzel B; Medizinisch Genetisches Zentrum, München, Germany., Onodera O; Department of Neurology, Brain Research Institute, Niigata University,  Niigata, Japan., van Rheenen W; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Pinto S; Faculty of Medicine-University of Lisbon, Instituto de Medicina Molecular, Hospital de Santa Maria, University of Lisbon, Alameda Universidade, Lisbon, Portugal., Weber M; Department of neurology, Kantonsspital St. Gallen and University Hospital, St. Gallen, Switzerland., Smith B; Institute of Psychiatry, King's College London and King's Health Partners, London, UK., Proven M; Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, England., Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe hospital, Oxford, UK., Keagle P; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Chesi A; Department of Genetics, Stanford University School of Medicine, Stanford, California, USA., Ratti A; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Universtà degli Studi di Milano, Milan, Italy Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, , Milan, Italy., van der Zee J; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp-CDE, Antwerp, Belgium Diagnostic Service Facility, Laboratory of neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Alstermark H; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden., Birve A; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden., Calini D; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Universtà degli Studi di Milano, Milan, Italy Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, , Milan, Italy., Nordin A; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden., Tradowsky DC; Institute of Human Genetics, Ulm University, Ulm, Germany., Just W; Institute of Human Genetics, Ulm University, Ulm, Germany., Daoud H; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada., Angerbauer S; Medizinisch Genetisches Zentrum, München, Germany., DeJesus-Hernandez M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Konno T; Department of Neurology, Brain Research Institute, Niigata University,  Niigata, Japan., Lloyd-Jani A; Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, England., de Carvalho M; Faculty of Medicine-University of Lisbon, Instituto de Medicina Molecular, Hospital de Santa Maria, University of Lisbon, Alameda Universidade, Lisbon, Portugal., Mouzat K; Department of Biochemistry, Nimes University Hospital, Nimes Cedex 9, France., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Silani V; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Universtà degli Studi di Milano, Milan, Italy Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, , Milan, Italy., Gitler AD; Department of Genetics, Stanford University School of Medicine, Stanford, California, USA., Shaw CE; Institute of Psychiatry, King's College London and King's Health Partners, London, UK., Rouleau GA; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada., van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Van Broeckhoven C; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp-CDE, Antwerp, Belgium Diagnostic Service Facility, Laboratory of neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Rademakers R; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden Institute of Human Genetics, Ulm University, Ulm, Germany Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp-CDE, Antwerp, Belgium Diagnostic Service Facility, Laboratory of neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada Department of Biochemistry, Nimes University Hospital, Nimes Cedex 9, France Center SLA, Montpellier University Hospital, Hôpital Gui-de-Chauliac, Montpellier Cedex 5, France Medizinisch Genetisches Zentrum, München, Germany Department of Neurology, Brain Research Institute, Niigata University,  Niigata, Japan Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands Faculty of Medicine-University of Lisbon, Instituto de Medicina Molecular, Hospital de Santa Maria, University of Lisbon, Alameda Universidade, Lisbon, Portugal Department of neurology, Kantonsspital St. Gallen and University Hospital, St. Gallen, Switzerland Institute of Psychiatry, King's College London and King's Health Partners, London, UK Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, England Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe hospital, Oxford, UK Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA Department of Genetics, Stanford University School of Medicine, Stanford, California, USA Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Universtà degli Studi di Milano, Milan, Italy Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, , Milan, Italy Department of Neurology, University of Ulm,, Andersen PM; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden Department of Neurology, University of Ulm, Ulm, Germany., Kubisch C; Institute of Human Genetics, Ulm University, Ulm, Germany.

Publikováno v: Journal of medical genetics [J Med Genet] 2014 Jun; Vol. 51 (6), pp. 419-24. Date of Electronic Publication: 2014 Apr 04.

Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers.

Autor: Yilmaz, Rüstem¹ (AUTHOR), Grehl, Torsten² (AUTHOR), Eckrich, Lukas¹ (AUTHOR), Marschalkowski, Ines² (AUTHOR), Weishaupt, Kanchi¹ (AUTHOR), Valkadinov, Ivan¹ (AUTHOR), Simic, Melita¹ (AUTHOR), Brenner, David^1,3 (AUTHOR), Andersen, Peter M.⁴ (AUTHOR), Wolf, Joachim⁵ (AUTHOR), Weishaupt, Jochen H.¹ (AUTHOR)

Publikováno v: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. Aug2023, Vol. 24 Issue 5/6, p414-419. 6p.