المؤلفون: Morgan, Neil V., Kurian, Manju, Spiegel, Ronald J.

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Nöroloji Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Hematoloji Anabilim Dalı., Cangül, Hakan, Özdemir, Özlem, Yakut, Tahsin, Okan, Mehmet Sait, Baytan, Birol, 8911611600, 26647804400, 6602802424, 6701707256, 6506622162

مصطلحات موضوعية: Neurodegeneration with brain iron accumulation, Pantothenate kinaseassociated neurodegeneration, PKAN, PANK2, Frameshift mutation, Consanguineous, Eye-of-the-tiger, Hallervorden-spatz-syndrome, Brain iron accumulation, Disease, Phenotype, Pediatrics, Child, Genetic counseling, Humans, Magnetic resonance imaging, Male, Molecular diagnostic techniques, Pantothenate kinase-associated neurodegeneration, Phosphotransferases (alcohol group acceptor), Prenatal diagnosis, Turkey, Neuroaxonal Dystrophies, Pantothenate kinase 2, Acanthocytosis, Article, Babinski reflex, Blood smear, Bone marrow biopsy, Case report

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; Turkish Journal of Pediatrics; Yurt dışı; Cangül, H. vd. (2009). "Pantothenate kinase-associated neurodegeneration (PKAN): Molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene". Turkish Journal of Pediatrics, 51(2), 161-165.; http://hdl.handle.net/11452/24646Test; http://www.turkishjournalpediatrics.org/uploads/pdf_TJP_624.pdfTest; 000266291500011; 2-s2.0-67149129968; 161; 165; 51

الإتاحة: http://hdl.handle.net/11452/24646Test
http://www.turkishjournalpediatrics.org/uploads/pdf_TJP_624.pdfTest

المؤلفون: Morgan, Neil V., Westaway, Shawn K, Morton, Jenny E. V., Gregory, Allison, Gissen, Paul, Sonek, Scott, Coryell, Jason, Canham, Natalie, Nardocci, Nardo, Giovanna, Giovanna, Shanaz, Shanaz, Rodriguez, Diana, Desguerre, Isabelle, Mubaidin, Amar, Bertin, Enrico, Trembath, Richard C., Simonati, Alessandro, Schanen, Carolyn, Johnson, Colin A., Levinson, Barbara, Woods, C. Geoffrey, Wilmot, Beth, Kramer, Patricia, Gitschier, Jane, Maher, Eamonn R., Hayflick, Susan J.

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Cangül, Hakan, 8911611600

مصطلحات موضوعية: Genetics & heredity, Involvement, Hallervorden-spatz-syndrome, Infantile neuroaxonal dystrophy, Brain, Chromosomes, Human, Pair 22, Female, Heredodegenerative Disorders, Nervous System, Humans, Iron, Male, Mutation, Neuroaxonal Dystrophies, Phospholipases A, Syndrome, Pantothenate Kinase-Associated Neurodegeneration, Neurodegeneration with Brain Iron Accumulation, Calcium, Phospholipase A2, Alzheimer disease, Chromosome 22q, Degenerative disease, Frameshift mutation, Gene, Gene locus, Gene mapping, Gene mutation

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; Nature Genetics; Yurt dışı; Sanayi; Morgan, N. V. vd. (2006). ''PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron''. Nature Genetics, 38(7), 752-754.; https://doi.org/10.1038/ng1826Test; http://hdl.handle.net/11452/21406Test; 000238669300009; 2-s2.0-33745553895; 752; 754; 38

الإتاحة: https://doi.org/10.1038/ng1826Test
http://hdl.handle.net/11452/21406Test

المؤلفون: Jane Gitschier, Richard C. Trembath, Shawn K. Westaway, Jason Coryell, Carolyn Schanen, Paul Gissen, Shanaz Pasha, Nardo Nardocci, Alessandro Simonati, Jenny Morton, Beth Wilmot, Patricia L. Kramer, Isabelle Desguerre, Enrico Bertini, Colin A. Johnson, Allison Gregory, Giovanna Zorzi, Barbara Levinson, Neil V. Morgan, C. Geoffrey Woods, Natalie Canham, Amar Mubaidin, Hakan Cangul, Eamonn R. Maher, Susan J. Hayflick, Scott Sonek, Diana Rodriguez

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Cangül, Hakan

المصدر: Nature Genetics. 38:752-754

مصطلحات موضوعية: Male, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation, Chromosomes, Human, Pair 22, INAD, NBIA, PLA2G6, Neuroferritinopathy, Pathogenesis, Nervous System, Gene, Gene locus, Phospholipase A2, Homeostasis, Missense mutation, Karak syndrome, Genetics, biology, Genetics & heredity, Brain, Syndrome, Parkinson disease, Heredodegenerative Disorders, Nervous System, Female, Heredodegenerative Disorders, Alzheimer disease, Alzheimer's disease, Human, Iron, Neuroaxonal Dystrophies, Neuroaxonal dystrophy, Article, Phospholipases A, WDR45, Hallervorden-spatz-syndrome, Frameshift mutation, medicine, Humans, Chromosome 22q, Gene mutation, Nerve degeneration, Gene mapping, medicine.disease, PANK2, Phospholipases A2, Degenerative disease, Mutation, biology.protein, Calcium, Involvement, PLA2G6 gene, Pantothenate Kinase-Associated Neurodegeneration, Neurodegeneration with Brain Iron Accumulation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd43b680d45e7dc979a73b0d09e171d1Test
https://doi.org/10.1038/ng1826Test