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Tytuł:
Downstream Effects of Mutations in SOD1 and TARDBP Converge on Gene Expression Impairment in Patient-Derived Motor Neurons.
Autorzy:
Dash BP; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany.
Freischmidt A; Department of Neurology, Ulm University, 89081 Ulm, Germany.
Weishaupt JH; Division of Neurodegeneration, Department of Neurology, Mannheim Center for Translational Neurosciences, Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany.
Hermann A; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany.; Center for Transdisciplinary Neurosciences Rostock, University Medical Center Rostock, 18147 Rostock, Germany.; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald, 18147 Rostock, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Aug 25; Vol. 23 (17). Date of Electronic Publication: 2022 Aug 25.
Typ publikacji:
Journal Article
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Induced Pluripotent Stem Cells*/metabolism
Mutation*
Neurodegenerative Diseases*/metabolism
DNA-Binding Proteins/*genetics
Superoxide Dismutase-1/*genetics
DNA-Binding Proteins/metabolism ; Gene Expression ; Humans ; Motor Neurons/metabolism ; RNA/metabolism
Czasopismo naukowe
Tytuł:
Quadruple genetic variants in a sporadic ALS patient.
Autorzy:
Yilmaz R; Division of Neurodegenerative Disorders, Department of Neurology, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany.
Weishaupt K; Division of Neurodegenerative Disorders, Department of Neurology, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany.
Valkadinov I; Division of Neurodegenerative Disorders, Department of Neurology, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany.
Knehr A; Division of Neurodegenerative Disorders, Department of Neurology, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany.
Brenner D; Division of Neurodegenerative Disorders, Department of Neurology, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany.
Weishaupt JH; Division of Neurodegenerative Disorders, Department of Neurology, Medical Faculty Mannheim, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Jul; Vol. 10 (7), pp. e1953. Date of Electronic Publication: 2022 Apr 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Exome ; Genetic Predisposition to Disease ; Humans ; Mutation ; Exome Sequencing
Czasopismo naukowe
Tytuł:
T-cell dysregulation is associated with disease severity in Parkinson's Disease.
Autorzy:
Bhatia D; Neurology, University Clinic, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.
Grozdanov V; Neurology, University Clinic, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.
Ruf WP; Neurology, University Clinic, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.
Kassubek J; Neurology, University Clinic, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.
Ludolph AC; Neurology, University Clinic, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.; German Center for Neurodegenerative Diseases (DZNE), Ulm, Germany.
Weishaupt JH; Neurology, University Clinic, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.; Division for Neurodegenerative Diseases, Neurology Department, University Medicine Mannheim, Heidelberg University, Mannheim, Germany.
Danzer KM; Neurology, University Clinic, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany. .; German Center for Neurodegenerative Diseases (DZNE), Ulm, Germany. .
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Źródło:
Journal of neuroinflammation [J Neuroinflammation] 2021 Oct 30; Vol. 18 (1), pp. 250. Date of Electronic Publication: 2021 Oct 30.
Typ publikacji:
Journal Article
MeSH Terms:
Severity of Illness Index*
Inflammation Mediators/*metabolism
Parkinson Disease/*metabolism
Parkinson Disease/*pathology
T-Lymphocytes/*metabolism
T-Lymphocytes/*pathology
Aged ; Aged, 80 and over ; Cells, Cultured ; Female ; Flow Cytometry/methods ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Tytuł:
A natural history comparison of SOD1-mutant patients with amyotrophic lateral sclerosis between Chinese and German populations.
Autorzy:
Tang L; Department of Neurology, Peking University Third Hospital, Beijing, 100191, China.; Beijing Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Peking University Third Hospital, Beijing, 100191, China.
Dorst J; Department of Neurology, Ulm University, 89081, Ulm, Germany.; German Center for Neurodegenerative Diseases (DZNE), Ulm Site, 89081, Ulm, Germany.
Chen L; Department of Neurology, Peking University Third Hospital, Beijing, 100191, China.; Beijing Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Peking University Third Hospital, Beijing, 100191, China.
Liu X; Department of Neurology, Peking University Third Hospital, Beijing, 100191, China.; Beijing Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Peking University Third Hospital, Beijing, 100191, China.
Ma Y; Department of Neurology, Peking University Third Hospital, Beijing, 100191, China.; Beijing Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Peking University Third Hospital, Beijing, 100191, China.
Günther K; Department of Neurology, Ulm University, 89081, Ulm, Germany.
Michels S; Department of Neurology, Ulm University, 89081, Ulm, Germany.
Müller K; Department of Neurology, Ulm University, 89081, Ulm, Germany.
Freischmidt A; Department of Neurology, Ulm University, 89081, Ulm, Germany.
Weishaupt JH; Department of Neurology, Ulm University, 89081, Ulm, Germany.
Fan D; Department of Neurology, Peking University Third Hospital, Beijing, 100191, China. .; Beijing Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Peking University Third Hospital, Beijing, 100191, China. .
Ludolph AC; Department of Neurology, Ulm University, 89081, Ulm, Germany. .; German Center for Neurodegenerative Diseases (DZNE), Ulm Site, 89081, Ulm, Germany. .
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Źródło:
Translational neurodegeneration [Transl Neurodegener] 2021 Oct 28; Vol. 10 (1), pp. 42. Date of Electronic Publication: 2021 Oct 28.
Typ publikacji:
Comparative Study; Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/diagnosis
Amyotrophic Lateral Sclerosis*/epidemiology
Amyotrophic Lateral Sclerosis*/genetics
China/epidemiology ; Germany ; Humans ; Mutation/genetics ; Superoxide Dismutase/genetics ; Superoxide Dismutase-1/genetics
Raport
Tytuł:
Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study.
Autorzy:
Steinacker P; Department of Neurology, Ulm University, Ulm, Germany.
Feneberg E; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Halbgebauer S; Department of Neurology, Ulm University, Ulm, Germany.
Witzel S; Department of Neurology, Ulm University, Ulm, Germany.
Verde F; Department of Neurology - Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy.; Department of Pathophysiology and Transplantation - 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.
Oeckl P; Department of Neurology, Ulm University, Ulm, Germany.
Van Damme P; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Department of Neurosciences, VIB - Center for Brain & Disease Research, Experimental Neurology - Laboratory of Neurobiology, KU Leuven - University of Leuven, Leuven, Belgium.
Gaur N; Department of Neurology, Jena University Hospital, Jena, Germany.
Gray E; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Grosskreutz J; Department of Neurology, Jena University Hospital, Jena, Germany.
Jardel CG; Department of Metabolic Biochemistry, Hôpitaux Universitaires Pitié Salpeêtrière-Charles Foix, Paris, France.
Kachanov M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kuhle J; Neurology, Departments of Biomedicine, Medicine and Clinical Research, University and University Hospital Basel, Basel, Switzerland.
Lamari F; Department of Metabolic Biochemistry, Hôpitaux Universitaires Pitié Salpeêtrière-Charles Foix, Paris, France.
Maceski A; Neurology, Departments of Biomedicine, Medicine and Clinical Research, University and University Hospital Basel, Basel, Switzerland.
Del Mar Amador M; Neurological Diseases Department, Paris ALS Reference Center, Hôpitaux Universitaires Pitié Salpeêtrière-Charles Foix, Paris, France.
Mayer B; Institute for Epidemiology and Medical Biometry, Ulm University, Ulm, Germany.
Morelli C; Department of Neurology - Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
Petri S; Department of Neurology, Hannover Medical School, Hannover, Germany.
Poesen K; Laboratory of Molecular Neurobiomarker Research, Leuven Brain Institute, KU Leuven and Laboratory Medicine, University Hospitals of Leuven, Leuven, Belgium.
Raaphorst J; Department of Neurology, Amsterdam Neuroscience Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Salachas F; Neurological Diseases Department, Paris ALS Reference Center, Hôpitaux Universitaires Pitié Salpeêtrière-Charles Foix, Paris, France.
Silani V; Department of Neurology - Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy.; Department of Pathophysiology and Transplantation - 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.
Turner MR; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Verbeek MM; Departments of Neurology and Laboratory Medicine, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Volk AE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Weishaupt JH; Department of Neurology, Ulm University, Ulm, Germany.
Weydt P; Department for Neurodegenerative Disorders and Gerontopsychiatry, Bonn University, Bonn, Germany.
Ludolph AC; Department of Neurology, Ulm University, Ulm, Germany.
Otto M; Department of Neurology, Ulm University, Ulm, Germany.
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Źródło:
Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2021 May; Vol. 22 (3-4), pp. 276-286. Date of Electronic Publication: 2021 Feb 12.
Typ publikacji:
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/diagnosis
Amyotrophic Lateral Sclerosis*/genetics
Hexosaminidases*/genetics
Biomarkers ; Disease Progression ; Humans ; Neurofilament Proteins ; Prognosis
Czasopismo naukowe
Tytuł:
Protein Binding Partners of Dysregulated miRNAs in Parkinson's Disease Serum.
Autorzy:
Ruf WP; Department of Neurology, Ulm University, 89081 Ulm, Germany.
Freischmidt A; Department of Neurology, Ulm University, 89081 Ulm, Germany.; German Center for Neurodegenerative Diseases (DNZE), 89081 Ulm, Germany.
Grozdanov V; Department of Neurology, Ulm University, 89081 Ulm, Germany.
Roth V; Department of Neurology, Ulm University, 89081 Ulm, Germany.
Brockmann SJ; Department of Neurology, Ulm University, 89081 Ulm, Germany.
Mollenhauer B; Department of Neurology, Universitätsmedizin Göttingen and Paracelsus-Elena-Klinik, 34128 Kassel, Germany.
Martin D; Department of Neurology, Technische Universität München, 80333 Munich, Germany.
Haslinger B; Department of Neurology, Technische Universität München, 80333 Munich, Germany.
Fundel-Clemens K; Boehringer Ingelheim Pharma GmbH & Co. KG, Div. Research Department, 88400 Biberach, Germany.
Otto M; Department of Neurology, Ulm University, 89081 Ulm, Germany.
Arnim CV; Department of Geriatrics, Göttingen University, 37075 Göttingen, Germany.
Holzmann K; Genomics-Core Facility, Center for Biomedical Research, University Hospital Ulm, 89081 Ulm, Germany.
Ludolph AC; Department of Neurology, Ulm University, 89081 Ulm, Germany.; German Center for Neurodegenerative Diseases (DNZE), 89081 Ulm, Germany.
Weishaupt JH; Institute for Neurodegeneration, Universitätsmedizin Mannheim, 68167 Mannheim, Germany.
Danzer KM; Department of Neurology, Ulm University, 89081 Ulm, Germany.
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Źródło:
Cells [Cells] 2021 Apr 02; Vol. 10 (4). Date of Electronic Publication: 2021 Apr 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
MicroRNAs/*blood
Parkinson Disease/*blood
Parkinson Disease/*genetics
Proteins/*metabolism
Aged ; Case-Control Studies ; Exosomes/genetics ; Female ; Gene Expression Profiling ; Gene Expression Regulation ; Humans ; Male ; MicroRNAs/genetics ; Middle Aged ; Principal Component Analysis ; Protein Binding
Czasopismo naukowe
Tytuł:
Focus on the heterogeneity of amyotrophic lateral sclerosis.
Autorzy:
Bendotti C; Mario Negri-ALS Study Group, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milano, Italy.
Bonetto V; Mario Negri-ALS Study Group, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milano, Italy.
Pupillo E; Mario Negri-ALS Study Group, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milano, Italy.
Logroscino G; Department of Neurosciences and Sense Organs, Center for Neurodegenerative Diseases and the Aging Brain Università degli Studi di Bari, Bari; Fondazione Giovanni Panico Tricase, Lecce, Italy.
Al-Chalabi A; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Lunetta C; NEuroMuscular Omnicentre (NEMO), Serena Onlus Foundation, Milano, Italy.
Riva N; Neuroimaging Research Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute and Vita-Salute San Raffaele University, Milano, Italy.
Mora G; Department of Neurorehabilitation, ICS Maugeri IRCCS, Milano, Italy.
Lauria G; Unit of Neurology, Motor Neuron Disease Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.; Department of Biomedical and Clinical Sciences 'Lduigi Sacco', University of Milan, Milan, Italy.
Weishaupt JH; Department of Neurology, Ulm University, Ulm, Germany.
Agosta F; Neuroimaging Research Unit, Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute and Vita-Salute San Raffaele University, Milano, Italy.
Malaspina A; Blizard Institute, Queen Mary University of London, London, UK.
Basso M; Mario Negri-ALS Study Group, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milano, Italy.; Department of Cellular, Computational and Integrative Biology (CIBIO), Università degli Studi di Trento, Trento, Italy.
Greensmith L; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Van Den Bosch L; Center for Brain & Disease Research (VIB) and Laboratory of Neurobiology (KU Leuven), Leuven, Belgium.
Ratti A; Department of Neurology - Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milano, Italy.; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Milano, Italy.
Corbo M; Department of Neurorehabilitation Sciences, Casa Cura Policlinico (CCP), Milano, Italy.
Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College, Dublin, Ireland.
Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, Università degli Studi di Torino, Torino, Italy.
Silani V; Department of Neurology - Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milano, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milano, Italy.
Beghi E; Mario Negri-ALS Study Group, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milano, Italy.
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Źródło:
Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2020 Nov; Vol. 21 (7-8), pp. 485-495. Date of Electronic Publication: 2020 Jun 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/epidemiology
Amyotrophic Lateral Sclerosis*/genetics
Induced Pluripotent Stem Cells*
Animals ; Humans ; Leukocytes, Mononuclear ; Motor Neurons ; Phenotype
Czasopismo naukowe
Tytuł:
Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.
Autorzy:
Naumann M; Department of Neurology, Technische Universität Dresden, Dresden, Germany.; German Center for Neurodegenerative Diseases (DZNE), Dresden, Germany.; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, 18147, Germany.
Peikert K; Department of Neurology, Technische Universität Dresden, Dresden, Germany.; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, 18147, Germany.
Günther R; Department of Neurology, Technische Universität Dresden, Dresden, Germany.; German Center for Neurodegenerative Diseases (DZNE), Dresden, Germany.
van der Kooi AJ; Department of Neurology, Amsterdam UMC, Academic Medical Centre, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, the Netherlands.
Aronica E; Amsterdam UMC, Department of (Neuro)Pathology, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, The Netherlands.
Hübers A; Department of Neurology, German Center for Neurodegenerative Diseases, University of Ulm, Ulm, Germany.
Danel V; Centre expert pour la SLA et les maladies du motoneurone hôpital SALENGRO, CHU, Lille, France.
Corcia P; Centre expert pour la SLA et les maladies du motoneurone hôpital SALENGRO, CHU, Lille, France.
Pan-Montojo F; Department of Neurology, Klinikum der Universität München, Munich Cluster for Systems Neurology, SyNergy, Munich, 81377, Germany.
Cirak S; Division of Pediatric Neurology, Department of Pediatrics, University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine, University of Cologne, Cologne, Germany.
Haliloglu G; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, 06100, Turkey.
Ludolph AC; Department of Neurology, German Center for Neurodegenerative Diseases, University of Ulm, Ulm, Germany.
Goswami A; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, 3052074, Germany.
Andersen PM; Institute of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, SE-90185, Sweden.
Prudlo J; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, 18147, Germany.; German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, Rostock, 18147, Germany.; Department of Neurology, University of Rostock, Rostock, Germany.
Wegner F; Department of Neurology, Hannover Medical School, Hannover, Germany.
Van Damme P; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Department for Neuroscience, VIB-KU Leuven Center for Brain & Disease Research, Leuven, Belgium.
Weishaupt JH; Department of Neurology, German Center for Neurodegenerative Diseases, University of Ulm, Ulm, Germany.
Hermann A; Department of Neurology, Technische Universität Dresden, Dresden, Germany.; German Center for Neurodegenerative Diseases (DZNE), Dresden, Germany.; Translational Neurodegeneration Section 'Albrecht-Kossel', Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, 18147, Germany.; German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, Rostock, 18147, Germany.; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, University of Rostock, Rostock, 18147, Germany.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Dec; Vol. 6 (12), pp. 2384-2394. Date of Electronic Publication: 2019 Nov 04.
Typ publikacji:
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis/*genetics
Neoplasms/*genetics
RNA-Binding Protein FUS/*genetics
Adolescent ; Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Amyotrophic Lateral Sclerosis/epidemiology ; Amyotrophic Lateral Sclerosis/physiopathology ; Child ; Comorbidity ; Cross-Sectional Studies ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Neoplasms/epidemiology ; Young Adult
Czasopismo naukowe
Tytuł:
Longitudinal diffusion tensor magnetic resonance imaging analysis at the cohort level reveals disturbed cortical and callosal microstructure with spared corticospinal tract in the TDP-43 ALS mouse model.
Autorzy:
Müller HP; 1Department of Neurology, University of Ulm, Oberer Eselsberg 45, RKU, D-89081 Ulm, Germany.
Brenner D; 1Department of Neurology, University of Ulm, Oberer Eselsberg 45, RKU, D-89081 Ulm, Germany.
Roselli F; 1Department of Neurology, University of Ulm, Oberer Eselsberg 45, RKU, D-89081 Ulm, Germany.; 2German Center for Neurodegenerative Diseases (DZNE), Ulm, Germany.
Wiesner D; 1Department of Neurology, University of Ulm, Oberer Eselsberg 45, RKU, D-89081 Ulm, Germany.
Abaei A; 3Core Facility Small Animal MRI, University of Ulm, Ulm, Germany.
Gorges M; 1Department of Neurology, University of Ulm, Oberer Eselsberg 45, RKU, D-89081 Ulm, Germany.
Danzer KM; 1Department of Neurology, University of Ulm, Oberer Eselsberg 45, RKU, D-89081 Ulm, Germany.
Ludolph AC; 1Department of Neurology, University of Ulm, Oberer Eselsberg 45, RKU, D-89081 Ulm, Germany.
Tsao W; 4Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, USA.
Wong PC; 4Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, USA.
Rasche V; 3Core Facility Small Animal MRI, University of Ulm, Ulm, Germany.
Weishaupt JH; 1Department of Neurology, University of Ulm, Oberer Eselsberg 45, RKU, D-89081 Ulm, Germany.
Kassubek J; 1Department of Neurology, University of Ulm, Oberer Eselsberg 45, RKU, D-89081 Ulm, Germany.
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Źródło:
Translational neurodegeneration [Transl Neurodegener] 2019 Aug 30; Vol. 8, pp. 27. Date of Electronic Publication: 2019 Aug 30 (Print Publication: 2019).
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
Reduction of ephrin-A5 aggravates disease progression in amyotrophic lateral sclerosis.
Autorzy:
Rué L; Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium.; Laboratory of Neurobiology, Center for Brain & Disease Research, VIB, KU Leuven, Leuven, Belgium.
Oeckl P; Department of Neurology, Ulm University Hospital, Ulm, Germany.
Timmers M; Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium.; Laboratory of Neurobiology, Center for Brain & Disease Research, VIB, KU Leuven, Leuven, Belgium.
Lenaerts A; Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium.; Laboratory of Neurobiology, Center for Brain & Disease Research, VIB, KU Leuven, Leuven, Belgium.
van der Vos J; Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium.; Laboratory of Neurobiology, Center for Brain & Disease Research, VIB, KU Leuven, Leuven, Belgium.
Smolders S; Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium.; Laboratory of Neurobiology, Center for Brain & Disease Research, VIB, KU Leuven, Leuven, Belgium.
Poppe L; Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium.; Laboratory of Neurobiology, Center for Brain & Disease Research, VIB, KU Leuven, Leuven, Belgium.
de Boer A; Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium.; Laboratory of Neurobiology, Center for Brain & Disease Research, VIB, KU Leuven, Leuven, Belgium.
Van Den Bosch L; Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium.; Laboratory of Neurobiology, Center for Brain & Disease Research, VIB, KU Leuven, Leuven, Belgium.
Van Damme P; Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium.; Laboratory of Neurobiology, Center for Brain & Disease Research, VIB, KU Leuven, Leuven, Belgium.; Department of Neurology, University Hospitals Leuven, Campus Gasthuisberg, Leuven, Belgium.
Weishaupt JH; Department of Neurology, Ulm University Hospital, Ulm, Germany.
Ludolph AC; Department of Neurology, Ulm University Hospital, Ulm, Germany.
Otto M; Department of Neurology, Ulm University Hospital, Ulm, Germany.
Robberecht W; Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium.; Department of Neurology, University Hospitals Leuven, Campus Gasthuisberg, Leuven, Belgium.
Lemmens R; Department of Neurosciences, Experimental Neurology and Leuven Brain Institute (LBI), KU Leuven - University of Leuven, Leuven, Belgium. .; Laboratory of Neurobiology, Center for Brain & Disease Research, VIB, KU Leuven, Leuven, Belgium. .; Department of Neurology, University Hospitals Leuven, Campus Gasthuisberg, Leuven, Belgium. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2019 Jul 12; Vol. 7 (1), pp. 114. Date of Electronic Publication: 2019 Jul 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Disease Progression*
Amyotrophic Lateral Sclerosis/*metabolism
Ephrin-A5/*deficiency
Adult ; Aged ; Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/pathology ; Animals ; Ephrin-A5/genetics ; Female ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mice, Transgenic ; Middle Aged ; Superoxide Dismutase-1/genetics
Czasopismo naukowe
Tytuł:
Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis.
Autorzy:
Dekker AM; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Diekstra FP; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Pulit SL; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Tazelaar GHP; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
van der Spek RA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
van Rheenen W; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
van Eijk KR; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Calvo A; Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.
Brunetti M; Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.
Damme PV; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven, Research Institute for Neuroscience and Disease (LIND), B-3000, Leuven, Belgium.; VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium.; University Hospitals Leuven, Department of Neurology, Leuven, Belgium.
Robberecht W; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven, Research Institute for Neuroscience and Disease (LIND), B-3000, Leuven, Belgium.; VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium.; University Hospitals Leuven, Department of Neurology, Leuven, Belgium.
Hardiman O; Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland.; Department of Neurology, Beaumont Hospital, Dublin, Ireland.
McLaughlin R; Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.
Chiò A; Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.
Sendtner M; Institute of Clinical Neurobiology, University of Würzburg, Würzburg, Germany.
Ludolph AC; Department of Neurology, Ulm University, Ulm, Germany.
Weishaupt JH; Department of Neurology, Ulm University, Ulm, Germany.
Pardina JSM; ALS Unit, Hospital San Rafael, Madrid, Spain.
van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands. .
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Źródło:
Scientific reports [Sci Rep] 2019 Apr 11; Vol. 9 (1), pp. 5931. Date of Electronic Publication: 2019 Apr 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Markers*
Genetic Predisposition to Disease*
Polymorphism, Single Nucleotide*
Amyotrophic Lateral Sclerosis/*genetics
Amyotrophic Lateral Sclerosis/*pathology
Exome/*genetics
Case-Control Studies ; Genetic Association Studies ; Genotype ; Humans ; Phenotype ; Exome Sequencing
Czasopismo naukowe

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