Pantothenate kinase-associated neurodegeneration (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Pantothenate kinase-associated neurodegeneration" in English language version.

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23nih.gov

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17doi.org

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9semanticscholar.org

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1worldcat.org

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1scribd.com

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1web.archive.org

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1britannica.com

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britannica.com

"Founder mutation in the PANK gene of Agrawal children with Neurodegeneration with Brain Iron accumulation (NBIA). :: Annals of Indian Academy of Neurology :: 2007 -- Britannica Online Encyclopedia". Archived from the original on 2011-02-12. Retrieved 2011-08-24.

doi.org

Harper, Peter S (1996). "Naming of syndromes and unethical activities: the case of Hallervorden and Spatz". The Lancet. 348 (9036): 1224–1225. doi:10.1016/S0140-6736(96)05222-1. ISSN 0140-6736. PMID 8898043. S2CID 11594905.
Spaull, Robert V. V.; Soo, Audrey K. S.; Hogarth, Penelope; Hayflick, Susan J.; Kurian, Manju A. (24 November 2021). "Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation". Tremor and Other Hyperkinetic Movements. 11 (1): 51. doi:10.5334/tohm.661. PMC 8641530. PMID 34909266.
Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ (2001). "A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome". Nat. Genet. 28 (4): 345–9. doi:10.1038/ng572. PMID 11479594. S2CID 20400095.
Bei-sha, Tang; et al. (2005). "Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration". Movement Disorders. 20 (7): 819–21. doi:10.1002/mds.20408. PMC 2105744. PMID 15747360.
Brunetti D, Dusi S, Giordano C, Lamperti C, Morbin M, Fugnanesi V, Marchet S, Fagiolari G, Sibon O, Moggio M, d'Amati G, Tiranti V (2014). "Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model". Brain. 137 (Pt 1): 57–68. doi:10.1093/brain/awt325. PMC 3891449. PMID 24316510.
Christou YP, Tanteles GA, Kkolou E, Ormiston A, Konstantopoulos K, Beconi M, Marshall RD, Plotkin H, Kleopa KA (2017). "Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN". Case Rep Neurol Med. 2017: 3247034. doi:10.1155/2017/3247034. PMC 5439260. PMID 28567317.
Zano SP, Pate C, Frank M, Rock CO, Jackowski S (2015). "Correction of a genetic deficiency in pantothenate kinase 1 using phosphopantothenate replacement therapy". Mol Genet Metab. 116 (4): 281–8. doi:10.1016/j.ymgme.2015.10.011. PMC 4764103. PMID 26549575.
Malmström-Groth AG, Kristensson K (1982). "Neuroaxonal dystrophy in childhood. Report of two second cousins with PKAN, and a case of Seitelberger's disease". Acta Paediatrica Scandinavica. 71 (6): 1045–9. doi:10.1111/j.1651-2227.1982.tb09574.x. PMID 7158329. S2CID 35574844.
Jankovic J, Kirkpatrick JB, Blomquist KA, Langlais PJ, Bird ED (February 1985). "Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism". Neurology. 35 (2): 227–34. doi:10.1159/000153550. PMID 3969211.
Jankovic J, Kirkpatrick JB, Blomquist KA, Langlais PJ, Bird ED (1985). "Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism". Neurology. 35 (2): 227–34. doi:10.1159/000153550. PMID 3969211.
Tanfani G, Mascalchi M, Dal Pozzo GC, Taverni N, Saia A, Trevisan C (1987). "MR imaging in a case of Hallervorden-Spatz disease". Journal of Computer Assisted Tomography. 11 (6): 1057–8. doi:10.1097/00004728-198711000-00027. PMID 3680689.
Sethi KD, Adams RJ, Loring DW, el Gammal T (1988). "Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations". Ann. Neurol. 24 (5): 692–4. doi:10.1002/ana.410240519. PMID 3202617. S2CID 10181478.
Angelini L, Nardocci N, Rumi V, Zorzi C, Strada L, Savoiardo M (1992). "Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life". J. Neurol. 239 (8): 417–25. doi:10.1007/BF00856805. PMID 1447570. S2CID 11403203.
Casteels I, Spileers W, Swinnen T, et al. (1994). "Optic atrophy as the presenting sign in Hallervorden-Spatz syndrome". Neuropediatrics. 25 (5): 265–7. doi:10.1055/s-2008-1073034. PMID 7885538. S2CID 260241219.
Malandrini A, Bonuccelli U, Parrotta E, Ceravolo R, Berti G, Guazzi GC (1995). "Myopathic involvement in two cases of Hallervorden-Spatz disease". Brain Dev. 17 (4): 286–90. doi:10.1016/0387-7604(95)00039-E. PMID 7503394. S2CID 37031359.
Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, Pineda M, Hattori H, Flett PJ, Cilio MR, Bertini E, Hayflick SJ (1996). "Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13". Nat. Genet. 14 (4): 479–81. doi:10.1038/ng1296-479. PMID 8944032. S2CID 21893195.
Pellecchia MT, Valente EM, Cif L, et al. (2005). "The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration". Neurology. 64 (10): 1810–2. doi:10.1212/01.WNL.0000161843.52641.EC. PMID 15911822. S2CID 23003382.

medscape.com

misc.medscape.com

Hanna, Philip A. "Pantothenate Kinase-Associated Neurodegeneration (PKAN)". Medscape. Retrieved 6 March 2020.

nih.gov

pubmed.ncbi.nlm.nih.gov

Harper, Peter S (1996). "Naming of syndromes and unethical activities: the case of Hallervorden and Spatz". The Lancet. 348 (9036): 1224–1225. doi:10.1016/S0140-6736(96)05222-1. ISSN 0140-6736. PMID 8898043. S2CID 11594905.
Spaull, Robert V. V.; Soo, Audrey K. S.; Hogarth, Penelope; Hayflick, Susan J.; Kurian, Manju A. (24 November 2021). "Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation". Tremor and Other Hyperkinetic Movements. 11 (1): 51. doi:10.5334/tohm.661. PMC 8641530. PMID 34909266.
Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ (2001). "A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome". Nat. Genet. 28 (4): 345–9. doi:10.1038/ng572. PMID 11479594. S2CID 20400095.
Bei-sha, Tang; et al. (2005). "Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration". Movement Disorders. 20 (7): 819–21. doi:10.1002/mds.20408. PMC 2105744. PMID 15747360.
Brunetti D, Dusi S, Giordano C, Lamperti C, Morbin M, Fugnanesi V, Marchet S, Fagiolari G, Sibon O, Moggio M, d'Amati G, Tiranti V (2014). "Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model". Brain. 137 (Pt 1): 57–68. doi:10.1093/brain/awt325. PMC 3891449. PMID 24316510.
Christou YP, Tanteles GA, Kkolou E, Ormiston A, Konstantopoulos K, Beconi M, Marshall RD, Plotkin H, Kleopa KA (2017). "Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN". Case Rep Neurol Med. 2017: 3247034. doi:10.1155/2017/3247034. PMC 5439260. PMID 28567317.
Zano SP, Pate C, Frank M, Rock CO, Jackowski S (2015). "Correction of a genetic deficiency in pantothenate kinase 1 using phosphopantothenate replacement therapy". Mol Genet Metab. 116 (4): 281–8. doi:10.1016/j.ymgme.2015.10.011. PMC 4764103. PMID 26549575.
Malmström-Groth AG, Kristensson K (1982). "Neuroaxonal dystrophy in childhood. Report of two second cousins with PKAN, and a case of Seitelberger's disease". Acta Paediatrica Scandinavica. 71 (6): 1045–9. doi:10.1111/j.1651-2227.1982.tb09574.x. PMID 7158329. S2CID 35574844.
Jankovic J, Kirkpatrick JB, Blomquist KA, Langlais PJ, Bird ED (February 1985). "Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism". Neurology. 35 (2): 227–34. doi:10.1159/000153550. PMID 3969211.
Jankovic J, Kirkpatrick JB, Blomquist KA, Langlais PJ, Bird ED (1985). "Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism". Neurology. 35 (2): 227–34. doi:10.1159/000153550. PMID 3969211.
Tanfani G, Mascalchi M, Dal Pozzo GC, Taverni N, Saia A, Trevisan C (1987). "MR imaging in a case of Hallervorden-Spatz disease". Journal of Computer Assisted Tomography. 11 (6): 1057–8. doi:10.1097/00004728-198711000-00027. PMID 3680689.
Sethi KD, Adams RJ, Loring DW, el Gammal T (1988). "Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations". Ann. Neurol. 24 (5): 692–4. doi:10.1002/ana.410240519. PMID 3202617. S2CID 10181478.
Angelini L, Nardocci N, Rumi V, Zorzi C, Strada L, Savoiardo M (1992). "Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life". J. Neurol. 239 (8): 417–25. doi:10.1007/BF00856805. PMID 1447570. S2CID 11403203.
Casteels I, Spileers W, Swinnen T, et al. (1994). "Optic atrophy as the presenting sign in Hallervorden-Spatz syndrome". Neuropediatrics. 25 (5): 265–7. doi:10.1055/s-2008-1073034. PMID 7885538. S2CID 260241219.
Malandrini A, Bonuccelli U, Parrotta E, Ceravolo R, Berti G, Guazzi GC (1995). "Myopathic involvement in two cases of Hallervorden-Spatz disease". Brain Dev. 17 (4): 286–90. doi:10.1016/0387-7604(95)00039-E. PMID 7503394. S2CID 37031359.
Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, Pineda M, Hattori H, Flett PJ, Cilio MR, Bertini E, Hayflick SJ (1996). "Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13". Nat. Genet. 14 (4): 479–81. doi:10.1038/ng1296-479. PMID 8944032. S2CID 21893195.
Pellecchia MT, Valente EM, Cif L, et al. (2005). "The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration". Neurology. 64 (10): 1810–2. doi:10.1212/01.WNL.0000161843.52641.EC. PMID 15911822. S2CID 23003382.

ncbi.nlm.nih.gov

Spaull, Robert V. V.; Soo, Audrey K. S.; Hogarth, Penelope; Hayflick, Susan J.; Kurian, Manju A. (24 November 2021). "Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation". Tremor and Other Hyperkinetic Movements. 11 (1): 51. doi:10.5334/tohm.661. PMC 8641530. PMID 34909266.
Bei-sha, Tang; et al. (2005). "Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration". Movement Disorders. 20 (7): 819–21. doi:10.1002/mds.20408. PMC 2105744. PMID 15747360.
Brunetti D, Dusi S, Giordano C, Lamperti C, Morbin M, Fugnanesi V, Marchet S, Fagiolari G, Sibon O, Moggio M, d'Amati G, Tiranti V (2014). "Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model". Brain. 137 (Pt 1): 57–68. doi:10.1093/brain/awt325. PMC 3891449. PMID 24316510.
Christou YP, Tanteles GA, Kkolou E, Ormiston A, Konstantopoulos K, Beconi M, Marshall RD, Plotkin H, Kleopa KA (2017). "Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN". Case Rep Neurol Med. 2017: 3247034. doi:10.1155/2017/3247034. PMC 5439260. PMID 28567317.
Zano SP, Pate C, Frank M, Rock CO, Jackowski S (2015). "Correction of a genetic deficiency in pantothenate kinase 1 using phosphopantothenate replacement therapy". Mol Genet Metab. 116 (4): 281–8. doi:10.1016/j.ymgme.2015.10.011. PMC 4764103. PMID 26549575.

ghr.nlm.nih.gov

"Pantothenate kinase-associated neurodegeneration". Genetics Home Reference. National Institutes of Health National Library of Medicine. Retrieved 6 March 2020.

scribd.com

"PANK2_Agarwal".

semanticscholar.org

api.semanticscholar.org

Harper, Peter S (1996). "Naming of syndromes and unethical activities: the case of Hallervorden and Spatz". The Lancet. 348 (9036): 1224–1225. doi:10.1016/S0140-6736(96)05222-1. ISSN 0140-6736. PMID 8898043. S2CID 11594905.
Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ (2001). "A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome". Nat. Genet. 28 (4): 345–9. doi:10.1038/ng572. PMID 11479594. S2CID 20400095.
Malmström-Groth AG, Kristensson K (1982). "Neuroaxonal dystrophy in childhood. Report of two second cousins with PKAN, and a case of Seitelberger's disease". Acta Paediatrica Scandinavica. 71 (6): 1045–9. doi:10.1111/j.1651-2227.1982.tb09574.x. PMID 7158329. S2CID 35574844.
Sethi KD, Adams RJ, Loring DW, el Gammal T (1988). "Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations". Ann. Neurol. 24 (5): 692–4. doi:10.1002/ana.410240519. PMID 3202617. S2CID 10181478.
Angelini L, Nardocci N, Rumi V, Zorzi C, Strada L, Savoiardo M (1992). "Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life". J. Neurol. 239 (8): 417–25. doi:10.1007/BF00856805. PMID 1447570. S2CID 11403203.
Casteels I, Spileers W, Swinnen T, et al. (1994). "Optic atrophy as the presenting sign in Hallervorden-Spatz syndrome". Neuropediatrics. 25 (5): 265–7. doi:10.1055/s-2008-1073034. PMID 7885538. S2CID 260241219.
Malandrini A, Bonuccelli U, Parrotta E, Ceravolo R, Berti G, Guazzi GC (1995). "Myopathic involvement in two cases of Hallervorden-Spatz disease". Brain Dev. 17 (4): 286–90. doi:10.1016/0387-7604(95)00039-E. PMID 7503394. S2CID 37031359.
Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, Pineda M, Hattori H, Flett PJ, Cilio MR, Bertini E, Hayflick SJ (1996). "Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13". Nat. Genet. 14 (4): 479–81. doi:10.1038/ng1296-479. PMID 8944032. S2CID 21893195.
Pellecchia MT, Valente EM, Cif L, et al. (2005). "The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration". Neurology. 64 (10): 1810–2. doi:10.1212/01.WNL.0000161843.52641.EC. PMID 15911822. S2CID 23003382.

web.archive.org

"Founder mutation in the PANK gene of Agrawal children with Neurodegeneration with Brain Iron accumulation (NBIA). :: Annals of Indian Academy of Neurology :: 2007 -- Britannica Online Encyclopedia". Archived from the original on 2011-02-12. Retrieved 2011-08-24.

worldcat.org

search.worldcat.org

Harper, Peter S (1996). "Naming of syndromes and unethical activities: the case of Hallervorden and Spatz". The Lancet. 348 (9036): 1224–1225. doi:10.1016/S0140-6736(96)05222-1. ISSN 0140-6736. PMID 8898043. S2CID 11594905.