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    Wyświetlanie 1-14 z 14
    Tytuł:
    Cerebral Iron Deposition in Neurodegeneration.
    Autorzy:
    Dusek P; Department of Neurology and Center of Clinical Neuroscience, 1st Faculty of Medicine and General University Hospital in Prague, Charles University in Prague, 120 00 Prague, Czech Republic.; Department of Radiology, 1st Faculty of Medicine and General University Hospital in Prague, Charles University in Prague, 120 00 Prague, Czech Republic.
    Hofer T; Department of Environmental Health, Division of Climate and Health, Norwegian Institute of Public Health, P.O. Box 222, Skøyen, 0213 Oslo, Norway.
    Alexander J; Department of Environmental Health, Division of Climate and Health, Norwegian Institute of Public Health, P.O. Box 222, Skøyen, 0213 Oslo, Norway.
    Roos PM; Institute of Environmental Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden.; Department of Clinical Physiology, St. Goran Hospital, 112 81 Stockholm, Sweden.
    Aaseth JO; Research Department, Innlandet Hospital Trust, P.O. Box 104, 2381 Brumunddal, Norway.; Faculty of Health and Social Sciences, Inland Norway University of Applied Sciences, P.O. Box 400, 2418 Elverum, Norway.
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    Źródło:
    Biomolecules [Biomolecules] 2022 May 17; Vol. 12 (5). Date of Electronic Publication: 2022 May 17.
    Typ publikacji:
    Journal Article; Review; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Iron Metabolism Disorders*/pathology
    Neuroaxonal Dystrophies*/pathology
    Neurodegenerative Diseases*/pathology
    Brain/pathology ; Humans ; Iron/pharmacology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Physiological significance of WDR45, a responsible gene for β-propeller protein associated neurodegeneration (BPAN), in brain development.
    Autorzy:
    Noda M; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai, 480-0392, Japan.
    Ito H; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai, 480-0392, Japan.
    Nagata KI; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai, 480-0392, Japan. .; Department of Neurochemistry, Nagoya University Graduate School of Medicine, Nagoya, Japan. .
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    Źródło:
    Scientific reports [Sci Rep] 2021 Nov 19; Vol. 11 (1), pp. 22568. Date of Electronic Publication: 2021 Nov 19.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Nerve Degeneration*
    Neurogenesis*
    Brain/*metabolism
    Carrier Proteins/*metabolism
    Iron Metabolism Disorders/*metabolism
    Neuroaxonal Dystrophies/*metabolism
    Animals ; Axons/metabolism ; Axons/pathology ; Brain/embryology ; COS Cells ; Carrier Proteins/genetics ; Chlorocebus aethiops ; Dendrites/metabolism ; Dendrites/pathology ; Electrical Synapses/metabolism ; Electrical Synapses/pathology ; Gene Expression Regulation, Developmental ; Gene Knockout Techniques ; Gestational Age ; Iron Metabolism Disorders/embryology ; Iron Metabolism Disorders/genetics ; Iron Metabolism Disorders/pathology ; Mice, Inbred ICR ; Neuroaxonal Dystrophies/embryology ; Neuroaxonal Dystrophies/genetics ; Neuroaxonal Dystrophies/pathology ; Signal Transduction ; Mice
    SCR Disease Name:
    Neurodegeneration with brain iron accumulation (NBIA)
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Copper, Iron, and Manganese Toxicity in Neuropsychiatric Conditions.
    Autorzy:
    Tarnacka B; Department of Rehabilitation Medicine, Faculty of Medicine, Warsaw Medical University, Spartańska 1, 02-637 Warsaw, Poland.
    Jopowicz A; Department of Rehabilitation, Eleonora Reicher National Institute of Geriatrics, Rheumatology and Rehabilitation, Spartańska 1, 02-637 Warsaw, Poland.
    Maślińska M; Department of Early Arthritis, Eleonora Reicher National Institute of Geriatrics, Rheumatology and Rehabilitation, Spartańska 1, 02-637 Warsaw, Poland.
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    Źródło:
    International journal of molecular sciences [Int J Mol Sci] 2021 Jul 22; Vol. 22 (15). Date of Electronic Publication: 2021 Jul 22.
    Typ publikacji:
    Journal Article; Review
    MeSH Terms:
    Ceruloplasmin/*deficiency
    Copper/*adverse effects
    Iron/*adverse effects
    Iron Metabolism Disorders/*pathology
    Manganese/*adverse effects
    Metabolic Diseases/*pathology
    Neuroaxonal Dystrophies/*pathology
    Neurodegenerative Diseases/*pathology
    Humans ; Iron Metabolism Disorders/chemically induced ; Iron Metabolism Disorders/etiology ; Manganese Poisoning/complications ; Metabolic Diseases/chemically induced ; Metalloproteins/metabolism ; Neuroaxonal Dystrophies/chemically induced ; Neurodegenerative Diseases/etiology ; Oxidative Stress
    SCR Disease Name:
    Familial apoceruloplasmin deficiency; Hypermanganesemia with Dystonia Polycythemia and Cirrhosis; Neuroferritinopathy
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress.
    Autorzy:
    Kurzawa-Akanbi M; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
    Keogh M; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.; MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, Cambridge Biomedical Campus, Cambridge University, Cambridge, UK.
    Tsefou E; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
    Ramsay L; Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Academic Unit of Pathology, Royal Hallamshire Hospital, Sheffield, UK.
    Johnson M; Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
    Keers S; Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
    Wsa Ochieng L; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
    McNair A; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
    Singh P; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.
    Khan A; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
    Pyle A; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
    Hudson G; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
    Ince PG; Academic Unit of Pathology, Royal Hallamshire Hospital, Sheffield, UK.
    Attems J; Cellular Pathology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
    Burn J; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK.
    Chinnery PF; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.; MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, Cambridge Biomedical Campus, Cambridge University, Cambridge, UK.
    Morris CM; Wolfson Building, Newcastle University, Newcastle upon Tyne, UK.; Newcastle Brain Tissue Resource, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
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    Źródło:
    Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2021 Feb; Vol. 47 (1), pp. 26-42. Date of Electronic Publication: 2020 Jun 19.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Apoferritins/*metabolism
    Brain/*drug effects
    Iron/*metabolism
    Iron Metabolism Disorders/*metabolism
    Neuroaxonal Dystrophies/*metabolism
    Animals ; Apoferritins/chemistry ; Apoferritins/genetics ; Brain/pathology ; Disease Models, Animal ; Ferritins/chemistry ; Ferritins/genetics ; Ferritins/metabolism ; Humans ; Iron Metabolism Disorders/pathology ; Middle Aged ; Mitochondria/drug effects ; Mitochondria/metabolism ; Mutation/genetics ; Neuroaxonal Dystrophies/pathology ; Neurodegenerative Diseases/pathology ; Oxidative Stress/drug effects ; Protein Aggregates/physiology
    SCR Disease Name:
    Neuroferritinopathy
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
    Autorzy:
    Correa-Vela M; Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Vall d´Hebron Institut de Recerca, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain.
    Lupo V; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.; Joint Units INCLIVA & IIS La Fe Rare Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
    Montpeyó M; Neurodegenerative diseases-CIBERNED, Vall d´Hebron, Institut de Recerca, Barcelona, Spain.
    Sancho P; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.; Joint Units INCLIVA & IIS La Fe Rare Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
    Marcé-Grau A; Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Vall d´Hebron Institut de Recerca, Barcelona, Spain.
    Hernández-Vara J; Department of Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
    Darling A; Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
    Jenkins A; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
    Fernández-Rodríguez S; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
    Tello C; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
    Ramírez-Jiménez L; Unit of Genomics and Traslational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
    Pérez B; Department of Molecular Biology, Centro de Biología Molecular Severo-Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), CIBER on Rare Diseases (CIBERER), Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), Madrid, Spain.
    Sánchez-Montáñez Á; Department of Pediatric Radiology, Hospital Universitari Vall d'Hebrón, Barcelona, Spain.
    Macaya A; Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Vall d´Hebron Institut de Recerca, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain.
    Sobrido MJ; Neurogenetics Research Group, Instituto de Investigaciones Sanitarias (IDIS), Fundación Pública Galega de Medicina Xenómica, and CIBER on Rare Diseases (CIBERER), Santiago de Compostela, Spain.
    Martinez-Vicente M; Department of Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
    Pérez-Dueñas B; Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Vall d´Hebron Institut de Recerca, Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain.
    Espinós C; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.; Joint Units INCLIVA & IIS La Fe Rare Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
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    Źródło:
    Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 Aug; Vol. 7 (8), pp. 1436-1442. Date of Electronic Publication: 2020 Aug 06.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Iron Metabolism Disorders*/enzymology
    Iron Metabolism Disorders*/genetics
    Iron Metabolism Disorders*/pathology
    Iron Metabolism Disorders*/physiopathology
    Neuroaxonal Dystrophies*/enzymology
    Neuroaxonal Dystrophies*/genetics
    Neuroaxonal Dystrophies*/pathology
    Neuroaxonal Dystrophies*/physiopathology
    Parkinsonian Disorders*/enzymology
    Parkinsonian Disorders*/genetics
    Parkinsonian Disorders*/pathology
    Parkinsonian Disorders*/physiopathology
    F-Box Proteins/*genetics
    Proteasome Endopeptidase Complex/*metabolism
    Adult ; Consanguinity ; Epilepsy/enzymology ; Epilepsy/genetics ; Epilepsy/pathology ; Epilepsy/physiopathology ; Female ; Humans ; Paraplegia/enzymology ; Paraplegia/genetics ; Paraplegia/pathology ; Paraplegia/physiopathology ; Spinocerebellar Degenerations/enzymology ; Spinocerebellar Degenerations/genetics ; Spinocerebellar Degenerations/pathology ; Spinocerebellar Degenerations/physiopathology ; Syndrome ; Young Adult
    SCR Disease Name:
    Neurodegeneration with brain iron accumulation (NBIA)
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Palliative care in 9 children with neurodegeneration with brain iron accumulation.
    Autorzy:
    Dangel T; Warsaw Hospice for Children Foundation, Agatowa 10, 03-680, Warsaw, Poland. .
    Kmieć T; Department of Neurology and Epileptology, Children's Memorial Health Institute, Warsaw, Poland.
    Januszaniec A; Warsaw Hospice for Children Foundation, Agatowa 10, 03-680, Warsaw, Poland.
    Ważny B; Warsaw Hospice for Children Foundation, Agatowa 10, 03-680, Warsaw, Poland.
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    Źródło:
    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2020 Mar; Vol. 41 (3), pp. 653-660. Date of Electronic Publication: 2019 Nov 22.
    Typ publikacji:
    Journal Article; Observational Study
    MeSH Terms:
    Home Care Services*
    Iron Metabolism Disorders/*therapy
    Neuroaxonal Dystrophies/*therapy
    Neuromuscular Agents/*pharmacology
    Palliative Care/*methods
    Adolescent ; Bone Diseases/drug therapy ; Bone Diseases/etiology ; Botulinum Toxins/pharmacology ; Child ; Dystonia/drug therapy ; Dystonia/etiology ; Female ; Humans ; Iron Metabolism Disorders/complications ; Iron Metabolism Disorders/drug therapy ; Iron Metabolism Disorders/nursing ; Male ; Muscle Spasticity/drug therapy ; Muscle Spasticity/etiology ; Musculoskeletal Pain/drug therapy ; Musculoskeletal Pain/etiology ; Neuroaxonal Dystrophies/complications ; Neuroaxonal Dystrophies/drug therapy ; Neuroaxonal Dystrophies/nursing
    SCR Disease Name:
    Neurodegeneration with brain iron accumulation (NBIA)
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients.
    Autorzy:
    Kaur J; Department of Neurology, Dayanand Medical College & Hospital, Civil Lines, Ludhiana, India.
    Parveen S; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, Delhi, India.
    Shamim U; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, Delhi, India.
    Sharma P; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, Delhi, India.
    Suroliya V; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
    Sonkar AK; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
    Ahmad I; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
    Garg J; Department of Neurology, Post Graduate Institute of Medical Education and Research, Dr. Ram Manohar Lohia Hospital, New Delhi, India.
    Anand KS; Department of Neurology, Post Graduate Institute of Medical Education and Research, Dr. Ram Manohar Lohia Hospital, New Delhi, India.
    Laskar S; Departmentt of Neurology, Safdurjung Hospital, Delhi, India.
    Chowdhury D; Department of Neurology, GB Pant Hospital, Delhi, India.
    Kushwaha S; Department of Neurology, Institute of Human Behaviour and Allied Sciences, Delhi, India.
    Goyal V; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
    Srivastava AK; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
    Singh G; Department of Neurology, Dayanand Medical College & Hospital, Civil Lines, Ludhiana, India.
    Faruq M; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, Delhi, India.
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    Źródło:
    Journal of Huntington's disease [J Huntingtons Dis] 2020; Vol. 9 (3), pp. 283-289.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Heredodegenerative Disorders, Nervous System/*diagnosis
    Huntington Disease/*diagnosis
    Iron Metabolism Disorders/*diagnosis
    Neuroaxonal Dystrophies/*diagnosis
    Trinucleotide Repeat Expansion/*genetics
    Adult ; Female ; Genetic Testing ; Heredodegenerative Disorders, Nervous System/genetics ; Humans ; Huntingtin Protein ; Huntington Disease/genetics ; India ; Iron Metabolism Disorders/genetics ; Male ; Middle Aged ; Nerve Tissue Proteins ; Neuroaxonal Dystrophies/genetics ; Protein Phosphatase 2 ; TATA-Box Binding Protein
    SCR Disease Name:
    Huntington Disease-Like Syndrome; Neuroferritinopathy
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
    Autorzy:
    Gregory A; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
    Lotia M; Parkinson's Disease Center and Movement Disorder Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas.
    Jeong SY; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
    Fox R; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
    Zhen D; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
    Sanford L; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
    Hamada J; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
    Jahic A; Department of Clinical Chemistry, Jena University Hospital, Jena, Germany.
    Beetz C; Department of Clinical Chemistry, Jena University Hospital, Jena, Germany.
    Freed A; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
    Kurian MA; Developmental Neurosciences, GOSH-Institute of Child Health, UCL & Department of Neurology, Great Ormond Street Hospital, London, UK.
    Cullup T; North East Thames Regional Genetics Laboratory, London, UK.
    van der Weijden MCM; Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands.
    Nguyen V; Pathology, Oregon Health & Science University, Portland, Oregon.
    Setthavongsack N; Pathology, Oregon Health & Science University, Portland, Oregon.
    Garcia D; Pathology, Oregon Health & Science University, Portland, Oregon.
    Krajbich V; Pathology, Oregon Health & Science University, Portland, Oregon.
    Pham T; Pathology, Oregon Health & Science University, Portland, Oregon.
    Woltjer R; Pathology, Oregon Health & Science University, Portland, Oregon.
    George BP; Department of Neurology, University of Rochester Medical Center, Rochester, New York.
    Minks KQ; Department of Neurology, University of Rochester Medical Center, Rochester, New York.
    Paciorkowski AR; Department of Neurology, University of Rochester Medical Center, Rochester, New York.; Departments of Pediatrics, Biomedical Genetics, and Neuroscience, University of Rochester Medical Center, Rochester, New York.
    Hogarth P; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
    Jankovic J; Parkinson's Disease Center and Movement Disorder Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas.
    Hayflick SJ; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
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    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Jul; Vol. 7 (7), pp. e00736. Date of Electronic Publication: 2019 May 13.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Iron Metabolism Disorders/*genetics
    Membrane Proteins/*genetics
    Mitochondrial Proteins/*genetics
    Neuroaxonal Dystrophies/*genetics
    Adult ; Brain ; Codon, Nonsense/genetics ; Cohort Studies ; Family ; Female ; Genes, Dominant/genetics ; Heterozygote ; Humans ; Iron Metabolism Disorders/metabolism ; Male ; Mitochondrial Membranes/metabolism ; Mitochondrial Proteins/metabolism ; Mutation ; Neuroaxonal Dystrophies/metabolism ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/metabolism ; Pedigree
    SCR Disease Name:
    Neurodegeneration with brain iron accumulation (NBIA)
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Mitochondrial membrane protein-associated neurodegeneration: a case report and literature review.
    Autorzy:
    Dušek P; a Department of Neurology, Centre of Clinical Neurosciences, 1st Faculty of Medicine , Charles University and General University Hospital , Prague , Czech Republic.
    Školoudík D; b Center of Research and Science, Faculty of Health Sciences , Palacký University , Olomouc , Czech Republic.
    Roth J; a Department of Neurology, Centre of Clinical Neurosciences, 1st Faculty of Medicine , Charles University and General University Hospital , Prague , Czech Republic.
    Dušek P; a Department of Neurology, Centre of Clinical Neurosciences, 1st Faculty of Medicine , Charles University and General University Hospital , Prague , Czech Republic.; c Department of Radiology, First Faculty of Medicine , Charles Universityand GeneralUniversity Hospital in Prague , Prague , Czech Republic.
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    Źródło:
    Neurocase [Neurocase] 2018 Jun; Vol. 24 (3), pp. 161-165. Date of Electronic Publication: 2018 Aug 08.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
    MeSH Terms:
    Iron Metabolism Disorders*/diagnostic imaging
    Iron Metabolism Disorders*/genetics
    Iron Metabolism Disorders*/physiopathology
    Mitochondrial Membrane Transport Proteins*
    Neuroaxonal Dystrophies*/diagnostic imaging
    Neuroaxonal Dystrophies*/genetics
    Neuroaxonal Dystrophies*/physiopathology
    Interleukins/*genetics
    Adult ; Humans ; Male ; Young Adult
    SCR Disease Name:
    Neurodegeneration with brain iron accumulation (NBIA)
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Different cortical excitability profiles in hereditary brain iron and copper accumulation.
    Autorzy:
    Dubbioso R; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy. .
    Ruggiero L; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
    Esposito M; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
    Tarantino P; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
    De Angelis M; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
    Aruta F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
    Pappatà S; Institute of Biostructure and Bioimaging, National Council of Research, Via S. Pansini, 5 IT-80131, Napoli, Italy.
    Ugga L; Department of Advanced Biomedical Sciences, University of Naples 'Federico II', Naples, Italy.
    Piperno A; Department of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
    Iorio R; Department of Translational Medical Sciences, Section of Pediatrics, University of Naples 'Federico II', Naples, Italy.
    Santoro L; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
    Iodice R; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
    Manganelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
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    Źródło:
    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2020 Mar; Vol. 41 (3), pp. 679-685. Date of Electronic Publication: 2019 Nov 26.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Ceruloplasmin/*deficiency
    Cortical Excitability/*physiology
    Hepatolenticular Degeneration/*physiopathology
    Iron Metabolism Disorders/*physiopathology
    Neuroaxonal Dystrophies/*physiopathology
    Neurodegenerative Diseases/*physiopathology
    Parkinsonian Disorders/*physiopathology
    Adult ; Female ; Humans ; Male ; Middle Aged ; Transcranial Magnetic Stimulation ; Young Adult
    SCR Disease Name:
    Familial apoceruloplasmin deficiency; Neurodegeneration with brain iron accumulation (NBIA)
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Effect of Systemic Iron Overload and a Chelation Therapy in a Mouse Model of the Neurodegenerative Disease Hereditary Ferritinopathy.
    Autorzy:
    Garringer HJ; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, 46202, United States of America.
    Irimia JM; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, 46202, United States of America.
    Li W; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, 46202, United States of America.
    Goodwin CB; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, 46202, United States of America.
    Richine B; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, 46202, United States of America.
    Acton A; Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, 46202, United States of America.
    Chan RJ; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, 46202, United States of America.
    Peacock M; Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, 46202, United States of America.
    Muhoberac BB; Department of Chemistry and Chemical Biology, Indiana University-Purdue University Indianapolis, Indianapolis, Indianam 46202, United States of America.
    Ghetti B; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, 46202, United States of America.
    Vidal R; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, 46202, United States of America.
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    Źródło:
    PloS one [PLoS One] 2016 Aug 30; Vol. 11 (8), pp. e0161341. Date of Electronic Publication: 2016 Aug 30 (Print Publication: 2016).
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Apoferritins/*metabolism
    Fibroblasts/*drug effects
    Iron Chelating Agents/*administration & dosage
    Iron Metabolism Disorders/*drug therapy
    Iron Overload/*drug therapy
    Neuroaxonal Dystrophies/*drug therapy
    Pyridones/*administration & dosage
    Animals ; Cell Survival ; Cells, Cultured ; Chelation Therapy ; Deferiprone ; Disease Models, Animal ; Female ; Fibroblasts/cytology ; Fibroblasts/metabolism ; Humans ; Iron/adverse effects ; Iron Chelating Agents/pharmacology ; Iron Metabolism Disorders/metabolism ; Iron Overload/metabolism ; Male ; Mice ; Neuroaxonal Dystrophies/metabolism ; Oxidative Stress/drug effects ; Pyridones/pharmacology
    SCR Disease Name:
    Neuroferritinopathy
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Behavioral characterization of mouse models of neuroferritinopathy.
    Autorzy:
    Capoccia S; Department of Cell Biology, Section of Behavioral Neuroscience, Istituto Superiore Di Sanità, Rome, Italy.
    Maccarinelli F; Department of Molecular and Translational Medicine, Section of Biotechnologies, University of Brescia, Brescia, Italy.
    Buffoli B; Department of Clinical and Experimental Sciences, Section of Anatomy and Physiopathology, University of Brescia, Brescia, Italy.
    Rodella LF; Department of Clinical and Experimental Sciences, Section of Anatomy and Physiopathology, University of Brescia, Brescia, Italy.
    Cremona O; Università Vita-Salute San Raffaele & Centro di Imaging Sperimentale, Istituto Scientifico San Raffaele, Milano, Italy.
    Arosio P; Department of Molecular and Translational Medicine, Section of Biotechnologies, University of Brescia, Brescia, Italy.
    Cirulli F; Department of Cell Biology, Section of Behavioral Neuroscience, Istituto Superiore Di Sanità, Rome, Italy.
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    Źródło:
    PloS one [PLoS One] 2015 Feb 17; Vol. 10 (2), pp. e0118990. Date of Electronic Publication: 2015 Feb 17 (Print Publication: 2015).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Behavior, Animal*
    Iron Metabolism Disorders*/genetics
    Iron Metabolism Disorders*/metabolism
    Iron Metabolism Disorders*/physiopathology
    Neuroaxonal Dystrophies*/genetics
    Neuroaxonal Dystrophies*/metabolism
    Neuroaxonal Dystrophies*/physiopathology
    Animals ; Apoferritins/genetics ; Disease Models, Animal ; Humans ; Mice ; Mice, Transgenic ; Mutation ; Phosphoglycerate Kinase/genetics ; Postural Balance ; Promoter Regions, Genetic ; Psychomotor Performance
    SCR Disease Name:
    Neuroferritinopathy
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.
    Autorzy:
    Kapoor S; Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India.
    Shah MH; Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India.
    Singh N; Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India.
    Rather MI; Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India.
    Bhat V; Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India.
    Gopinath S; Department of Biotechnology, R.V. College of Engineering, Bangalore, 560059, India.
    Bindu PS; Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore, 560029, India.
    Taly AB; Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore, 560029, India.
    Sinha S; Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore, 560029, India.
    Nagappa M; Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore, 560029, India.
    Bharath RD; Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neuro Sciences, Bangalore, 560029, India.
    Mahadevan A; Department of Neuropathology, National Institute of Mental Health and Neuro Sciences, Bangalore, 560029, India.
    Narayanappa G; Department of Neuropathology, National Institute of Mental Health and Neuro Sciences, Bangalore, 560029, India.
    Chickabasaviah YT; Department of Neuropathology, National Institute of Mental Health and Neuro Sciences, Bangalore, 560029, India.
    Kumar A; Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India.
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    Źródło:
    PloS one [PLoS One] 2016 May 19; Vol. 11 (5), pp. e0155605. Date of Electronic Publication: 2016 May 19 (Print Publication: 2016).
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Dystonia/*genetics
    Group VI Phospholipases A2/*genetics
    Iron Metabolism Disorders/*genetics
    Neuroaxonal Dystrophies/*genetics
    Parkinsonian Disorders/*genetics
    Alleles ; Asian People/genetics ; Dystonic Disorders/genetics ; Exons ; Family Health ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Homozygote ; Humans ; India ; Magnetic Resonance Imaging ; Male ; Mutation ; Neurodegenerative Diseases/genetics
    SCR Disease Name:
    NBIA2B
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-14 z 14

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