Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Neurodegeneration"" wg kryterium: Temat


Tytuł :
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
Autorzy :
Klopstock T; Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Munich, Germany.
Videnovic A; Department of Neurology, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts, USA.
Bischoff AT; Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.
Bonnet C; Department of Neurology, Sorbonne University, AP-HP Salpêtrière Hospital, Paris, France.
Cif L; Department of Neurosurgery, CHRU de Montpellier, Gui de Chauliac Hospital, Montpellier, France.
Comella C; Department of Neurosurgery and Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.
Correa-Vela M; Department of Child Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Escolar ML; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Fraser JL; Rare Disease Institute, Division of Genetics and Metabolism, Children's National Medical Center, Washington, District of Columbia, USA.
Gonzalez V; Department of Neurosurgery, University Hospital of Montpellier, Gui de Chauliac Hospital, Montpellier, France.
Hermanowicz N; Department of Neurology, University of California Irvine, Irvine, California, USA.
Jech R; Department of Neurology, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.
Jinnah HA; Departments of Neurology and Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Kmiec T; Child Neurology Department, Children's Memorial Health Institute, Warsaw, Poland.
Lang A; Edmond J. Safra Program in Parkinson's Disease and the Department of Medicine (Neurology), Toronto Western Hospital and the University of Toronto, Toronto, Ontario, Canada.
Martí MJ; Movement Disorders Unit, Hospital Clinic of Barcelona, European Reference Network for Rare Neurological Diseases (ERN-RND), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED. CB06/05/0018-ISCIII), Barcelona, Spain.
Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
Monduy M; Neurology, Nicklaus Children's Hospital, Miami, Florida, USA.
Nimmo GAM; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Perez-Dueñas B; Department of Child Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Pfeiffer HCV; Department of Child Neurology, Oslo University Hospital-Rikshospitalet, Oslo, Norway.
Planellas L; Department of Neurology, Hospital Clinic of Barcelona, Barcelona, Spain.
Roze E; Department of Neurology, Sorbonne University, AP-HP Salpêtrière Hospital, Brain and Spine Institute, Paris, France.
Thakur N; Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas at Houston Medical School, Houston, Texas, USA.
Tochen L; Department of Neurology, Children's National Medical Center, Washington, District of Columbia, USA.
Vanegas-Arroyave N; Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA.
Zorzi G; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Burns C; Biostatistics, Retrophin, Inc., San Diego, California, USA.
Greblikas F; Research and Development, Retrophin, Inc., San Diego, California, USA.
Pokaż więcej
Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Jun; Vol. 36 (6), pp. 1342-1352. Date of Electronic Publication: 2020 Nov 16.
Typ publikacji :
Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms :
Pantothenate Kinase-Associated Neurodegeneration*/drug therapy
Pantothenate Kinase-Associated Neurodegeneration*/genetics
Activities of Daily Living ; Double-Blind Method ; Humans ; Pantothenic Acid/analogs & derivatives
Czasopismo naukowe
Tytuł :
Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives.
Autorzy :
Álvarez-Córdoba M; Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas, Universidad Pablo de Olavide, Carretera de Utrera Km 1, 41013, Sevilla, Spain.; Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013, Sevilla, Spain.
Talaverón-Rey M; Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas, Universidad Pablo de Olavide, Carretera de Utrera Km 1, 41013, Sevilla, Spain.; Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013, Sevilla, Spain.
Villalón-García I; Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas, Universidad Pablo de Olavide, Carretera de Utrera Km 1, 41013, Sevilla, Spain.; Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013, Sevilla, Spain.
Povea-Cabello S; Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas, Universidad Pablo de Olavide, Carretera de Utrera Km 1, 41013, Sevilla, Spain.; Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013, Sevilla, Spain.
Suárez-Rivero JM; Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas, Universidad Pablo de Olavide, Carretera de Utrera Km 1, 41013, Sevilla, Spain.; Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013, Sevilla, Spain.
Suárez-Carrillo A; Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas, Universidad Pablo de Olavide, Carretera de Utrera Km 1, 41013, Sevilla, Spain.; Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013, Sevilla, Spain.
Munuera-Cabeza M; Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas, Universidad Pablo de Olavide, Carretera de Utrera Km 1, 41013, Sevilla, Spain.; Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013, Sevilla, Spain.
Salas JJ; Departamento de Bioquímica Y Biología Molecular de Productos Vegetales, Instituto de La Grasa (CSIC), Sevilla, Spain.
Sánchez-Alcázar JA; Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas, Universidad Pablo de Olavide, Carretera de Utrera Km 1, 41013, Sevilla, Spain. .; Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013, Sevilla, Spain. .
Pokaż więcej
Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 May 05; Vol. 16 (1), pp. 201. Date of Electronic Publication: 2021 May 05.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Pantothenate Kinase-Associated Neurodegeneration*/genetics
Down-Regulation ; Humans ; Mitochondria/metabolism ; Mitochondrial Proteins/genetics ; Phosphotransferases (Alcohol Group Acceptor)/genetics ; Phosphotransferases (Alcohol Group Acceptor)/metabolism
Czasopismo naukowe
Tytuł :
Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-070-02) from a patient with neurodegeneration with brain iron accumulation (NBIA) having compound heterozygous mutations in PANK2 gene.
Autorzy :
Ou-Yang CH; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Tai CH; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Lin HY; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Huang CY; The First Core Laboratory, College of Medicine, National Taiwan University, Taipei, Taiwan.
Lin CH; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: .
Pokaż więcej
Źródło :
Stem cell research [Stem Cell Res] 2021 Mar; Vol. 51, pp. 102190. Date of Electronic Publication: 2021 Jan 22.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Induced Pluripotent Stem Cells*
Pantothenate Kinase-Associated Neurodegeneration*
Brain/diagnostic imaging ; Female ; Humans ; Iron Metabolism Disorders ; Leukocytes, Mononuclear ; Mutation ; Neuroaxonal Dystrophies ; Phosphotransferases (Alcohol Group Acceptor)/genetics
SCR Disease Name :
Neurodegeneration with brain iron accumulation (NBIA)
Czasopismo naukowe
Tytuł :
Pilot trial on the efficacy and safety of pantethine in children with pantothenate kinase-associated neurodegeneration: a single-arm, open-label study.
Autorzy :
Chang X; Department of Pediatrics, Peking University First Hospital, No.1, Xi'an Men Street, West District, Beijing, 100034, China.
Zhang J; Department of Pediatrics, Peking University First Hospital, No.1, Xi'an Men Street, West District, Beijing, 100034, China.
Jiang Y; Department of Pediatrics, Peking University First Hospital, No.1, Xi'an Men Street, West District, Beijing, 100034, China.
Yao B; Department of Clinical Pharmacy, School of Pharmaceutical Sciences, Shandong University, Jinan, China.
Wang J; Department of Pediatrics, Peking University First Hospital, No.1, Xi'an Men Street, West District, Beijing, 100034, China.
Wu Y; Department of Pediatrics, Peking University First Hospital, No.1, Xi'an Men Street, West District, Beijing, 100034, China. .
Pokaż więcej
Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Sep 14; Vol. 15 (1), pp. 248. Date of Electronic Publication: 2020 Sep 14.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Pantothenate Kinase-Associated Neurodegeneration*/drug therapy
Pantetheine/*analogs & derivatives
Child ; Female ; Humans ; Male ; Pantetheine/therapeutic use ; Pilot Projects ; Quality of Life ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature.
Autorzy :
Pan S; Department of Neurology Intervention, Zhengzhou Central Hospital Affiliated to Zhengzhou University, Zhengzhou University , Zhengzhou, Henan, China.
Zhu C; The First Affiliated Hospital of Zhengzhou University, Zhengzhou University , Zhengzhou, Henan, China.
Pokaż więcej
Źródło :
Neurocase [Neurocase] 2020 Jun; Vol. 26 (3), pp. 175-182. Date of Electronic Publication: 2020 Apr 20.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Pantothenate Kinase-Associated Neurodegeneration*/genetics
Pantothenate Kinase-Associated Neurodegeneration*/pathology
Pantothenate Kinase-Associated Neurodegeneration*/physiopathology
Phosphotransferases (Alcohol Group Acceptor)/*genetics
Adult ; Humans ; Male ; Young Adult
Czasopismo naukowe
Tytuł :
Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.
Autorzy :
Santambrogio P; IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Ripamonti M; Division of Neuroscience, Vita-Salute San Raffaele University, 20132 Milan, Italy.
Paolizzi C; Division of Neuroscience, Vita-Salute San Raffaele University, 20132 Milan, Italy.
Panteghini C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, 20126 Milan, Italy.
Carecchio M; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, 20126 Milan, Italy.; Department of Neuroscience, University of Padua, 35122 Padua, Italy.
Chiapparini L; Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, 20133 Milan, Italy.
Raimondi M; Division of Neuroscience, Vita-Salute San Raffaele University, 20132 Milan, Italy.
Rubio A; Institute of Neuroscience, National Research Council, 20132 Milan, Italy.
Di Meo I; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, 20126 Milan, Italy.
Cozzi A; IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Taverna S; IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
De Palma G; Department of Medical and Surgical Specialities, University of Brescia, 25123 Brescia, Italy.
Tiranti V; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, 20126 Milan, Italy.
Levi S; IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.; Division of Neuroscience, Vita-Salute San Raffaele University, 20132 Milan, Italy.
Pokaż więcej
Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 May 22; Vol. 21 (10). Date of Electronic Publication: 2020 May 22.
Typ publikacji :
Journal Article
MeSH Terms :
Calcium/*metabolism
Iron/*metabolism
Mitochondria/*metabolism
Neurons/*metabolism
Pantothenate Kinase-Associated Neurodegeneration/*metabolism
Adolescent ; Brain/diagnostic imaging ; Brain/pathology ; Calcium/adverse effects ; Calpain/metabolism ; Child ; Child, Preschool ; Cohort Studies ; Cytoplasm/physiology ; Female ; Homeostasis ; Humans ; Induced Pluripotent Stem Cells ; Infant ; Iron/adverse effects ; Magnetic Resonance Imaging ; Male ; Mass Spectrometry ; Microscopy, Electron ; Mitochondria/enzymology ; Mitochondria/ultrastructure ; Neurons/physiology ; Neurons/ultrastructure ; Pantothenate Kinase-Associated Neurodegeneration/pathology ; Phosphotransferases (Alcohol Group Acceptor) ; Tomography, X-Ray Computed ; Young Adult
Czasopismo naukowe
Tytuł :
Safety evaluation of a clinical focused ultrasound system for neuronavigation guided blood-brain barrier opening in non-human primates.
Autorzy :
Pouliopoulos, Antonios N.
Kwon, Nancy
Jensen, Greg
Meaney, Anna
Niimi, Yusuke
Burgess, Mark T.
Ji, Robin
McLuckie, Alicia J.
Munoz, Fabian A.
Kamimura, Hermes A. S.
Teich, Andrew F.
Ferrera, Vincent P.
Konofagou, Elisa E.
Pokaż więcej
Źródło :
Scientific Reports. 7/22/2021, Vol. 11 Issue 1, p1-17. 17p.
Czasopismo naukowe
Tytuł :
Humanized Mice for Infectious and Neurodegenerative disorders.
Autorzy :
Dash, Prasanta K. (AUTHOR)
Gorantla, Santhi (AUTHOR)
Poluektova, Larisa (AUTHOR)
Hasan, Mahmudul (AUTHOR)
Waight, Emiko (AUTHOR)
Zhang, Chen (AUTHOR)
Markovic, Milica (AUTHOR)
Edagwa, Benson (AUTHOR)
Machhi, Jatin (AUTHOR)
Olson, Katherine E. (AUTHOR)
Wang, Xinglong (AUTHOR)
Mosley, R. Lee (AUTHOR)
Kevadiya, Bhavesh (AUTHOR)
Gendelman, Howard E. (AUTHOR)
Pokaż więcej
Źródło :
Retrovirology. 6/5/2021, Vol. 18 Issue 1, p1-17. 17p.
Czasopismo naukowe
Tytuł :
SIRT2‐knockdown rescues GARS‐induced Charcot‐Marie‐Tooth neuropathy.
Autorzy :
Zhao, Yingying (AUTHOR)
Xie, Liangguo (AUTHOR)
Shen, Chao (AUTHOR)
Qi, Qian (AUTHOR)
Qin, Yicai (AUTHOR)
Xing, Juan (AUTHOR)
Zhou, Dejian (AUTHOR)
Qi, Yun (AUTHOR)
Yan, Zhiqiang (AUTHOR)
Lin, Xinhua (AUTHOR)
Dai, Rongyang (AUTHOR)
Lin, Jinzhong (AUTHOR)
Yu, Wei (AUTHOR)
Pokaż więcej
Źródło :
Aging Cell. Jun2021, Vol. 20 Issue 6, p1-11. 11p.
Czasopismo naukowe

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies