المؤلفون: Hopfner F; Department of Neurology Hannover Medical School, Hannover, Germany., Tietz AK; Department of Neurology, Kiel University, Kiel, Germany., Ruf VC; Center for Neuropathology and Prion Research, Ludwig-Maximilians-Universität, Munich, Germany., Ross OA; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.; Department of Clinical Genomics, Mayo Clinic, Jacksonville, Florida, USA., Koga S; Department of Neuroscience (Neuropathology), Mayo Clinic, Jacksonville, Florida, USA., Dickson D; Department of Neuroscience (Neuropathology), Mayo Clinic, Jacksonville, Florida, USA., Aguzzi A; Institute of Neuropathology, University Hospital Zürich, Zürich, Switzerland., Attems J; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom., Beach T; Banner Sun Health Research Institute, Sun City, Arizona, USA., Beller A; Department of Pathology, University of Washington, Seattle, Washington, USA., Cheshire WP; Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA., van Deerlin V; Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Desplats P; Department of Neurosciences, School of Medicine University of California San Diego, La Jolla, California, USA.; Department of Pathology, School of Medicine University of California San Diego, La Jolla, California, USA., Deuschl G; Department of Neurology, Kiel University, Kiel, Germany., Duyckaerts C; Institut du Cerveau, UMR 7225, Sorbonne Université, Paris Brain Institute-ICM, CNRS, AP-HP, Hôpital de la Pitié Salpêtrière, Inserm U1127 DMU Neurosciences, Paris, France.; Brainbank NeuroCEB Neuropathology Network: Plateforme de Ressources Biologiques, Hôpital de La Pitié-Salpêtrière, Bâtiment Roger Baillet, Paris Cedex, France., Ellinghaus D; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel & University Hospital Schleswig-Holstein, Kiel, Germany., Evsyukov V; Department of Neurology Hannover Medical School, Hannover, Germany., Flanagan ME; Mesulam Center for Cognitive Neurology and Alzheimer's Disease Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.; Department of Pathology, Northwestern University, Chicago, Illinois, USA., Franke A; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel & University Hospital Schleswig-Holstein, Kiel, Germany., Frosch MP; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, USA., Gearing M; Departments of Pathology and Laboratory Medicine and Neurology, Emory University School of Medicine, Atlanta, Georgia, USA., Gelpi E; Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria.; Medical University of Vienna, Austrian Reference Center for Human Prion Diseases (OERPE), Vienna, Austria., van Gerpen JA; Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA., Ghetti B; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA., Glass JD; Department of Neurology, Emory University, Atlanta, Georgia, USA., Grinberg LT; Memory and Aging Center, Weill Institute for Neurosciences, Department of Neurology, University of California San Francisco, San Francisco, California, USA.; Global Health Institute, University of California, San Francisco, California, USA.; Department of Pathology, University of California, San Francisco, California, USA.; Department of Pathology, University of Sao Paulo Medical School, Sao Paulo, Brazil., Halliday G; The University of Sydney, School of Medical Sciences, and Brain & Mind Centre, Sydney, New South Wales, Australia., Helbig I; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, New York, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Höllerhage M; Department of Neurology Hannover Medical School, Hannover, Germany., Huitinga I; Department of Neuroimmunology, Netherlands Institute for Neuroscience, Amsterdam, the Netherlands.; Brain Plasticity Group, Swammerdam Institute for Life Sciences, University of Amsterdam, Amsterdam, the Netherlands., Irwin DJ; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Keene DC; Department of Pathology, University of Washington, Seattle, Washington, USA., Kovacs GG; Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria.; Department of Laboratory Medicine and Pathobiology and Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.; Laboratory Medicine Program and Krembil Brain Institute, University Health Network, Toronto, Ontario, Canada., Lee EB; Department of Pathology and Laboratory Medicine, Translational Neuropathology Research Laboratory Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Levin J; DZNE - German Center for Neurodegenerative Diseases, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany., Martí MJ; Parkinson's Disease and Movement Disorders Unit, Department of Neurology, Hospital Clinic of Barcelona, Barcelona, Spain.; Institut de Neurociències, Maeztu Center, University of Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain., Mackenzie I; Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada.; Department of Pathology, Vancouver General Hospital, Vancouver, British Columbia, Canada., McKeith I; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom., Mclean C; Department of Anatomical Pathology, Alfred Health, Melbourne, Victoria, Australia., Mollenhauer B; Paracelsus-Elena-Klinik, Kassel, Germany.; Department of Neurology, University Medical Center Goettingen, Gottingen, Germany., Neumann M; Molecular Neuropathology of Neurodegenerative Diseases, German Center for Neurodegenerative Diseases, Tübingen, Germany.; Department of Neuropathology, University Hospital of Tübingen, Tübingen, Germany., Newell KL; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA., Pantelyat A; Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Pendziwiat M; Department of Neuropediatrics, Children's Hospital, University Medical Center Schleswig-Holstein, University of Kiel, Kiel, Germany.; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany., Peters A; Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Molina Porcel L; Neurology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain., Rabano A; Neuropathology Department, CIEN Foundation, Alzheimer's Centre Queen Sofía Foundation, Madrid, Spain., Matěj R; Department of Pathology, 3rd Faculty of Medicine, Charles University, University Hospital Kralovske Vinohrady, Prague, Czech Republic.; Department of Pathology and Molecular Medicine, 3rd Faculty of Medicine, Charles University, Thomayer University Hospital, Prague, Czech Republic., Rajput A; Division of Neurology, Royal University Hospital, University of Saskatchewan, Saskatoon, Saskatchewan, Canada., Rajput A; Saskatchewan Movement Disorders Program, Saskatchewan Health Authority/University of Saskatchewan, Saskatoon, Saskatchewan, Canada., Reimann R; Institute of Neuropathology, University Hospital Zürich, Zürich, Switzerland., Scott WK; John P. Hussman Institute for Human Genomics and Dr. John T. Macdonald Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida, USA., Seeley W; Memory and Aging Center, Weill Institute for Neurosciences, Department of Neurology, University of California San Francisco, San Francisco, California, USA.; Global Health Institute, University of California, San Francisco, California, USA.; Department of Pathology, University of California, San Francisco, California, USA., Selvackadunco S; Basic and Clinical Neuroscience Department, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Simuni T; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Stadelmann C; Institute for Neuropathology, University Medical Centre Göttingen, Göttingen, Germany., Svenningsson P; Section of Neurology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Thomas A; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom., Trenkwalder C; Paracelsus-Elena-Klinik, Kassel, Germany.; Department of Neurosurgery, University Medical Center Goettingen, Goettingen, Germany., Troakes C; Basic and Clinical Neuroscience Department, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Trojanowski JQ; Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Uitti RJ; Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA., White CL; Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA., Xie T; Department of Neurology, University of Chicago Medicine, Chicago, Illinois, USA., Ximelis T; Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain., Yebenes J; Neurological Tissue Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona, Spain.; Servicio de Neurología, Hospital Ramón y Cajal de Madrid, Madrid, Spain., Müller U; Institute of Human Genetics, JLU-Gießen, Giessen, Germany., Schellenberg GD; Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Herms J; Center for Neuropathology and Prion Research, Ludwig-Maximilians-Universität, Munich, Germany.; DZNE - German Center for Neurodegenerative Diseases, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Kuhlenbäumer G; Department of Neurology, Kiel University, Kiel, Germany., Höglinger G; Department of Neurology Hannover Medical School, Hannover, Germany.; DZNE - German Center for Neurodegenerative Diseases, Munich, Germany.; Zentrum für Systemische Neurowissenschaften, Hannover, Germany.

مؤلفون مشاركون: Alzheimer's Disease Genetics Consortium

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Oct; Vol. 37 (10), pp. 2110-2121. Date of Electronic Publication: 2022 Aug 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Multiple System Atrophy*/genetics , Multiple System Atrophy*/pathology , Olivopontocerebellar Atrophies* , Striatonigral Degeneration*, Autoantibodies ; Autopsy ; Genome-Wide Association Study ; Humans ; Nerve Tissue Proteins/genetics ; Transcription Factors/genetics ; Transcription Factors/metabolism ; alpha-Synuclein/metabolism

المؤلفون: Berciano J; Service of Neurology, University Hospital 'Marqués de Valdecilla (IDIVAL)', University of Cantabria, and 'Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)', Santander, Spain. joseberciano51@hotmail.com., Gazulla J; Service of Neurology, 'Hospital Universitario Miguel Servet', Saragossa, Spain., Infante J; Service of Neurology, University Hospital 'Marqués de Valdecilla (IDIVAL)', University of Cantabria, and 'Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)', Santander, Spain.

المصدر: Cerebellum (London, England) [Cerebellum] 2022 Aug; Vol. 21 (4), pp. 531-544. Date of Electronic Publication: 2021 Nov 03.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE

مواضيع طبية MeSH: Cerebellar Ataxia* , Neurodegenerative Diseases* , Spastic Paraplegia, Hereditary*/genetics , Striatonigral Degeneration*, Ataxia/genetics ; Atrophy ; Humans ; Paraplegia/genetics

المؤلفون: Jang J; Department of Neuroscience, Graduate School of Medicine, Kyung Hee University, Seoul 02447, Korea., Hong A; Department of Neuroscience, Graduate School of Medicine, Kyung Hee University, Seoul 02447, Korea., Chung Y; Department of Predictive Toxicology, Korea Institute of Toxicology, Daejeon 34114, Korea., Jin B; Department of Neuroscience, Graduate School of Medicine, Kyung Hee University, Seoul 02447, Korea.; Department of Biochemistry & Molecular Biology, School of Medicine, Kyung Hee University, Seoul 02447, Korea.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2022 Jan 05; Vol. 23 (1). Date of Electronic Publication: 2022 Jan 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Oxidative Stress*/drug effects, Interleukin-4/*metabolism , Lipopolysaccharides/*adverse effects , Microglia/*immunology , Microglia/*metabolism , Striatonigral Degeneration/*etiology , Striatonigral Degeneration/*metabolism, Animals ; Biomarkers ; Corpus Striatum/metabolism ; Corpus Striatum/pathology ; Disease Models, Animal ; Disease Susceptibility ; Female ; Immunohistochemistry ; Lipopolysaccharides/immunology ; Macrophage Activation/immunology ; Macrophages/immunology ; Macrophages/metabolism ; Microglia/drug effects ; Rats ; Striatonigral Degeneration/pathology

المؤلفون: Karaoğlu P; University of Health Sciences, Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Department of Pediatrics, Division of Pediatric Neurology, Turkey. Electronic address: pakizekaraoglu@gmail.com., Köse M; Katip Çelebi University Medical Faculty, Department of Pediatrics, Division of Inborn Errors of Metabolism, Turkey.

المصدر: European journal of medical genetics [Eur J Med Genet] 2021 Jan; Vol. 64 (1), pp. 104117. Date of Electronic Publication: 2020 Nov 25.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intracellular Signaling Peptides and Proteins/*genetics , Membrane Proteins/*genetics , Striatonigral Degeneration/*genetics, Age of Onset ; Basal Ganglia/diagnostic imaging ; Female ; Homozygote ; Humans ; Infant ; Mutation ; Phenotype ; Striatonigral Degeneration/diagnostic imaging ; Striatonigral Degeneration/pathology ; Substantia Nigra/diagnostic imaging

المؤلفون: Heras-Garvin A; Division of Neurobiology, Department of Neurology, Medical University of Innsbruck, Austria. Electronic address: antonio.heras@i-med.ac.at., Stefanova N; Division of Neurobiology, Department of Neurology, Medical University of Innsbruck, Austria. Electronic address: nadia.stefanova@i-med.ac.at.

المصدر: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2020 Apr; Vol. 73, pp. 94-104. Date of Electronic Publication: 2020 Jan 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5126 (Electronic) Linking ISSN: 13538020 NLM ISO Abbreviation: Parkinsonism Relat Disord Subsets: MEDLINE

مواضيع طبية MeSH: Multiple System Atrophy*/drug therapy , Multiple System Atrophy*/etiology , Multiple System Atrophy*/pathology , Olivopontocerebellar Atrophies*/drug therapy , Olivopontocerebellar Atrophies*/etiology , Olivopontocerebellar Atrophies*/pathology , Striatonigral Degeneration*/drug therapy , Striatonigral Degeneration*/etiology , Striatonigral Degeneration*/pathology, Animals ; Humans

المؤلفون: Liao S; Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing, China.; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Engineering Research Center of Stem Cell Therapy, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Pediatric Research Institute, Chongqing, China., Chen T; Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing, China.; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Engineering Research Center of Stem Cell Therapy, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Pediatric Research Institute, Chongqing, China.; Department of Pediatrics, Quanzhou First Hospital affiliated to Fujian Medical University, Fujian, China., Dai Y; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Engineering Research Center of Stem Cell Therapy, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Pediatric Research Institute, Chongqing, China.; Department of Primary Child Health Care, Children's Hospital of Chongqing Medical University, Chongqing, China., Wang Y; Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing, China.; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Engineering Research Center of Stem Cell Therapy, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Pediatric Research Institute, Chongqing, China., Wu F; Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing, China.; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Engineering Research Center of Stem Cell Therapy, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Pediatric Research Institute, Chongqing, China., Zhong M; Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing, China.; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Engineering Research Center of Stem Cell Therapy, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Pediatric Research Institute, Chongqing, China.; Department of Pediatrics, Qianjiang Central Hospital of Chongqing, Chongqing, China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Feb; Vol. 8 (2), pp. e1101. Date of Electronic Publication: 2019 Dec 26.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Intracellular Signaling Peptides and Proteins/*genetics , Membrane Proteins/*genetics , Striatonigral Degeneration/*genetics, Adult ; Child ; Child, Preschool ; Female ; Humans ; Intracellular Signaling Peptides and Proteins/chemistry ; Male ; Membrane Proteins/chemistry ; Pedigree ; Protein Domains ; Striatonigral Degeneration/pathology

المؤلفون: Stiefel P; Unidad de Epidemiología Clínica y Riesgo Vascular, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.; Unidad de Medicina Interna, Hospital Universitario Virgen del Rocío, Sevilla, Spain., Muñoz-Hernández R; Unidad de Epidemiología Clínica y Riesgo Vascular, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain., Alfaro-Lara V; Unidad de Epidemiología Clínica y Riesgo Vascular, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.; Unidad de Medicina Interna, Hospital Universitario Virgen del Rocío, Sevilla, Spain., González-Estrada A; Unidad de Epidemiología Clínica y Riesgo Vascular, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.; Unidad de Medicina Interna, Hospital Universitario Virgen del Rocío, Sevilla, Spain., Espinosa-Torre F; Unidad de Medicina Interna, Hospital Universitario Virgen del Rocío, Sevilla, Spain., Beltrán-Romero LM; Unidad de Epidemiología Clínica y Riesgo Vascular, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.; Unidad de Medicina Interna, Hospital Universitario Virgen del Rocío, Sevilla, Spain.

المصدر: American journal of hypertension [Am J Hypertens] 2020 Oct 21; Vol. 33 (10), pp. 958-961.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 8803676 Publication Model: Print Cited Medium: Internet ISSN: 1941-7225 (Electronic) Linking ISSN: 08957061 NLM ISO Abbreviation: Am J Hypertens Subsets: MEDLINE

مواضيع طبية MeSH: Hypertension/*physiopathology , Hypotension/*physiopathology , Peripheral Nervous System/*physiopathology , Striatonigral Degeneration/*physiopathology , Syncope, Vasovagal/*physiopathology, Blood Pressure ; Electrocardiography ; Electrocardiography, Ambulatory ; Humans ; Hypertension/diagnosis ; Hypertension/drug therapy ; Hypotension/diagnosis ; Male ; Middle Aged ; Multiple System Atrophy/diagnosis ; Multiple System Atrophy/physiopathology ; Striatonigral Degeneration/diagnosis ; Ventricular Dysfunction, Left/diagnostic imaging ; Ventricular Dysfunction, Left/physiopathology ; Ventricular Remodeling

المؤلفون: Zhong S; Department of Neurology, Peking University People's Hospital, Beijing, China., Wen S; Key Laboratory of Laboratory Medicine, College of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, China., Qiu Y; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China., Yu Y; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China., Xin L; Department of Health, Exercise Science, and Recreation Management, University of Mississippi, University, Mississippi., He Y; Department of Neurology, Peking University People's Hospital, Beijing, China., Gao X; Department of Neurology, Peking University People's Hospital, Beijing, China., Fang H; Key Laboratory of Laboratory Medicine, College of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, China., Hong D; Department of Neurology, Peking University People's Hospital, Beijing, China., Zhang J; Department of Neurology, Peking University People's Hospital, Beijing, China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Mar; Vol. 7 (3), pp. e541. Date of Electronic Publication: 2019 Jan 08.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Penetrance* , Point Mutation*, DNA, Mitochondrial/*genetics , Striatonigral Degeneration/*genetics, Humans ; Male ; Pedigree ; Sex Factors ; Striatonigral Degeneration/diagnostic imaging ; Striatonigral Degeneration/pathology ; Young Adult

المؤلفون: Baide-Mairena H; Department of Child Neurology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain; Faculty of Medicine, Universitat Autónoma de Barcelona, Unitat Docent Vall d'Hebrón, Spain., Gaudó P; Departament of Biochemistry, Molecular and Cellular Biology, Zaragoza University-Sanitary Research Institute of Aragon (IIS-Aragón), Zaragoza, Spain., Marti-Sánchez L; Clinical Biochemistry Institut de Recerca - Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Emperador S; Departament of Biochemistry, Molecular and Cellular Biology, Zaragoza University-Sanitary Research Institute of Aragon (IIS-Aragón), Zaragoza, Spain; CIBERER, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain., Sánchez-Montanez A; Neuroradiology Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain., Alonso-Luengo O; Department of Pediatrics, University Hospital Virgen del Rocío, Sevilla, Spain., Correa M; Department of Child Neurology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain., Grau AM; Department of Child Neurology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain., Ortigoza-Escobar JD; Department of Child Neurology Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Artuch R; Clinical Biochemistry Institut de Recerca - Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Vázquez E; Neuroradiology Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain., Del Toro M; Department of Child Neurology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain., Garrido-Pérez N; Departament of Biochemistry, Molecular and Cellular Biology, Zaragoza University-Sanitary Research Institute of Aragon (IIS-Aragón), Zaragoza, Spain., Ruiz-Pesini E; Departament of Biochemistry, Molecular and Cellular Biology, Zaragoza University-Sanitary Research Institute of Aragon (IIS-Aragón), Zaragoza, Spain., Montoya J; Departament of Biochemistry, Molecular and Cellular Biology, Zaragoza University-Sanitary Research Institute of Aragon (IIS-Aragón), Zaragoza, Spain; CIBERER, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain., Bayona-Bafaluy MP; Departament of Biochemistry, Molecular and Cellular Biology, Zaragoza University-Sanitary Research Institute of Aragon (IIS-Aragón), Zaragoza, Spain; CIBERER, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain., Pérez-Dueñas B; Department of Child Neurology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain; CIBERER, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain; Faculty of Medicine, Universitat Autónoma de Barcelona, Unitat Docent Vall d'Hebrón, Spain. Electronic address: belen.perez@vhir.org.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2019 Mar; Vol. 126 (3), pp. 250-258. Date of Electronic Publication: 2019 Jan 05.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Dystonic Disorders/*genetics , Electron Transport Complex I/*genetics , Leigh Disease/*genetics , Mitochondrial Proteins/*genetics , Striatonigral Degeneration/*congenital, Biopsy ; Child ; Cohort Studies ; Female ; Fibroblasts ; Gene Expression ; Genetic Variation ; Humans ; Leigh Disease/complications ; Male ; Muscles/pathology ; Mutation ; Pedigree ; Siblings ; Striatonigral Degeneration/genetics

SCR Disease Name: Striatonigral Degeneration, Infantile, Mitochondrial

المؤلفون: Quintino L; CNS Gene Therapy, Department of Experimental Medical Science, Lund University, Lund, Sweden., Avallone M; CNS Gene Therapy, Department of Experimental Medical Science, Lund University, Lund, Sweden., Brännstrom E; CNS Gene Therapy, Department of Experimental Medical Science, Lund University, Lund, Sweden., Kavanagh P; CNS Gene Therapy, Department of Experimental Medical Science, Lund University, Lund, Sweden., Lockowandt M; CNS Gene Therapy, Department of Experimental Medical Science, Lund University, Lund, Sweden., Garcia Jareño P; CNS Gene Therapy, Department of Experimental Medical Science, Lund University, Lund, Sweden., Breger LS; CNS Gene Therapy, Department of Experimental Medical Science, Lund University, Lund, Sweden., Lundberg C; CNS Gene Therapy, Department of Experimental Medical Science, Lund University, Lund, Sweden. Cecilia.lundberg@med.lu.se.

المصدر: Gene therapy [Gene Ther] 2019 Feb; Vol. 26 (1-2), pp. 57-64. Date of Electronic Publication: 2018 Dec 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9421525 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5462 (Electronic) Linking ISSN: 09697128 NLM ISO Abbreviation: Gene Ther Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Therapy/*methods , Glial Cell Line-Derived Neurotrophic Factor/*genetics , Parkinson Disease/*therapy , Striatonigral Degeneration/*therapy, Animals ; Female ; Glial Cell Line-Derived Neurotrophic Factor/metabolism ; Lentivirus/genetics ; Oxidopamine/toxicity ; Parkinson Disease/etiology ; Rats ; Rats, Sprague-Dawley ; Striatonigral Degeneration/etiology ; Substantia Nigra/metabolism ; Substantia Nigra/pathology