Spinocerebellar ataxia type 6 (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Spinocerebellar ataxia type 6" in English language version.

refsWebsite
Global rank English rank
2nd place
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doi.org (Global: 2nd place; English: 2nd place)

  • Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton D, Amos C, Dobyns W, Subramony S, Zoghbi H, Lee C (1997). "Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel". Nat Genet. 15 (1): 62–9. doi:10.1038/ng0197-62. PMID 8988170. S2CID 9116828.
  • Ishikawa K, Fujigasaki H, Saegusa H, Ohwada K, Fujita T, Iwamoto H, Komatsuzaki Y, Toru S, Toriyama H, Watanabe M, Ohkoshi N, Shoji S, Kanazawa I, Tanabe T, Mizusawa H (1999). "Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6". Hum Mol Genet. 8 (7): 1185–93. doi:10.1093/hmg/8.7.1185. PMID 10369863.
  • Toru S, Murakoshi T, Ishikawa K, Saegusa H, Fujigasaki H, Uchihara T, Nagayama S, Osanai M, Mizusawa H, Tanabe T (2000). "Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function". J Biol Chem. 275 (15): 10893–8. doi:10.1074/jbc.275.15.10893. PMID 10753886.
  • Wan J, Khanna R, Sandusky M, Papazian D, Jen J, Baloh R (2005). "CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics". Neurology. 64 (12): 2090–7. doi:10.1212/01.WNL.0000167409.59089.C0. PMID 15985579. S2CID 5679518.
  • Tonelli A, D'Angelo M, Salati R, Villa L, Germinasi C, Frattini T, Meola G, Turconi A, Bresolin N, Bassi M (2006). "Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene". J Neurol Sci. 241 (1–2): 13–7. doi:10.1016/j.jns.2005.10.007. PMID 16325861. S2CID 36806418.
  • Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P (2003). "Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family". Arch Neurol. 60 (4): 610–4. doi:10.1001/archneur.60.4.610. hdl:10400.16/349. PMID 12707077.
  • Kors E, Vanmolkot K, Haan J, Kheradmand Kia S, Stroink H, Laan L, Gill D, Pascual J, van den Maagdenberg A, Frants R, Ferrari M (2004). "Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2". Neuropediatrics. 35 (5): 293–6. doi:10.1055/s-2004-821082. PMID 15534763.
  • Riess O, Schöls L, Bottger H, Nolte D, Vieira-Saecker A, Schimming C, Kreuz F, Macek M, Krebsová A, Klockgether T, Zühlke C, Laccone F (1997). "SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene". Hum Mol Genet. 6 (8): 1289–93. doi:10.1093/hmg/6.8.1289. PMID 9259275.
  • Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen J, Riess O (1997). "Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?". Ann Neurol. 42 (6): 924–32. doi:10.1002/ana.410420615. PMID 9403486. S2CID 32742844.
  • Watanabe H, Tanaka F, Matsumoto M, Doyu M, Ando T, Mitsuma T, Sobue G (1998). "Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6". Clin Genet. 53 (1): 13–9. doi:10.1034/j.1399-0004.1998.531530104.x. PMID 9550356.
  • Storey E, du Sart D, Shaw J, Lorentzos P, Kelly L, McKinley Gardner R, Forrest S, Biros I, Nicholson G (2000). "Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia". Am J Med Genet. 95 (4): 351–7. doi:10.1002/1096-8628(20001211)95:4<351::AID-AJMG10>3.0.CO;2-R. PMID 11186889.
  • Sinke R, Ippel E, Diepstraten C, Beemer F, Wokke J, van Hilten B, Knoers N, van Amstel H, Kremer H (2001). "Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families". Arch Neurol. 58 (11): 1839–44. doi:10.1001/archneur.58.11.1839. PMID 11708993.

handle.net (Global: 102nd place; English: 76th place)

hdl.handle.net

nih.gov (Global: 4th place; English: 4th place)

pubmed.ncbi.nlm.nih.gov

  • Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton D, Amos C, Dobyns W, Subramony S, Zoghbi H, Lee C (1997). "Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel". Nat Genet. 15 (1): 62–9. doi:10.1038/ng0197-62. PMID 8988170. S2CID 9116828.
  • Ishikawa K, Fujigasaki H, Saegusa H, Ohwada K, Fujita T, Iwamoto H, Komatsuzaki Y, Toru S, Toriyama H, Watanabe M, Ohkoshi N, Shoji S, Kanazawa I, Tanabe T, Mizusawa H (1999). "Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6". Hum Mol Genet. 8 (7): 1185–93. doi:10.1093/hmg/8.7.1185. PMID 10369863.
  • Toru S, Murakoshi T, Ishikawa K, Saegusa H, Fujigasaki H, Uchihara T, Nagayama S, Osanai M, Mizusawa H, Tanabe T (2000). "Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function". J Biol Chem. 275 (15): 10893–8. doi:10.1074/jbc.275.15.10893. PMID 10753886.
  • Wan J, Khanna R, Sandusky M, Papazian D, Jen J, Baloh R (2005). "CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics". Neurology. 64 (12): 2090–7. doi:10.1212/01.WNL.0000167409.59089.C0. PMID 15985579. S2CID 5679518.
  • Tonelli A, D'Angelo M, Salati R, Villa L, Germinasi C, Frattini T, Meola G, Turconi A, Bresolin N, Bassi M (2006). "Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene". J Neurol Sci. 241 (1–2): 13–7. doi:10.1016/j.jns.2005.10.007. PMID 16325861. S2CID 36806418.
  • Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P (2003). "Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family". Arch Neurol. 60 (4): 610–4. doi:10.1001/archneur.60.4.610. hdl:10400.16/349. PMID 12707077.
  • Kors E, Vanmolkot K, Haan J, Kheradmand Kia S, Stroink H, Laan L, Gill D, Pascual J, van den Maagdenberg A, Frants R, Ferrari M (2004). "Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2". Neuropediatrics. 35 (5): 293–6. doi:10.1055/s-2004-821082. PMID 15534763.
  • Riess O, Schöls L, Bottger H, Nolte D, Vieira-Saecker A, Schimming C, Kreuz F, Macek M, Krebsová A, Klockgether T, Zühlke C, Laccone F (1997). "SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene". Hum Mol Genet. 6 (8): 1289–93. doi:10.1093/hmg/6.8.1289. PMID 9259275.
  • Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen J, Riess O (1997). "Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?". Ann Neurol. 42 (6): 924–32. doi:10.1002/ana.410420615. PMID 9403486. S2CID 32742844.
  • Watanabe H, Tanaka F, Matsumoto M, Doyu M, Ando T, Mitsuma T, Sobue G (1998). "Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6". Clin Genet. 53 (1): 13–9. doi:10.1034/j.1399-0004.1998.531530104.x. PMID 9550356.
  • Storey E, du Sart D, Shaw J, Lorentzos P, Kelly L, McKinley Gardner R, Forrest S, Biros I, Nicholson G (2000). "Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia". Am J Med Genet. 95 (4): 351–7. doi:10.1002/1096-8628(20001211)95:4<351::AID-AJMG10>3.0.CO;2-R. PMID 11186889.
  • Sinke R, Ippel E, Diepstraten C, Beemer F, Wokke J, van Hilten B, Knoers N, van Amstel H, Kremer H (2001). "Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families". Arch Neurol. 58 (11): 1839–44. doi:10.1001/archneur.58.11.1839. PMID 11708993.

semanticscholar.org (Global: 11th place; English: 8th place)

api.semanticscholar.org

  • Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton D, Amos C, Dobyns W, Subramony S, Zoghbi H, Lee C (1997). "Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel". Nat Genet. 15 (1): 62–9. doi:10.1038/ng0197-62. PMID 8988170. S2CID 9116828.
  • Wan J, Khanna R, Sandusky M, Papazian D, Jen J, Baloh R (2005). "CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics". Neurology. 64 (12): 2090–7. doi:10.1212/01.WNL.0000167409.59089.C0. PMID 15985579. S2CID 5679518.
  • Tonelli A, D'Angelo M, Salati R, Villa L, Germinasi C, Frattini T, Meola G, Turconi A, Bresolin N, Bassi M (2006). "Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene". J Neurol Sci. 241 (1–2): 13–7. doi:10.1016/j.jns.2005.10.007. PMID 16325861. S2CID 36806418.
  • Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen J, Riess O (1997). "Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?". Ann Neurol. 42 (6): 924–32. doi:10.1002/ana.410420615. PMID 9403486. S2CID 32742844.