| 1 | SCA4, ZFHX3
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| Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease
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| Wallenius J, Kafantari E, Jhaveri E, Gorcenco S, Ameur A, Karremo C, Dobloug S, Karrman K, de Koning T, Ilinca A, Landqvist Waldö M, Arvidsson A, Persson S, Englund E, Ehrencrona H, Puschmann A.
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| Am J Hum Genet. Jan 4;111(1):82-95. doi: 10.1016/j.ajhg.2023.11.008. Epub 2023 Nov 29. 2024
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| 2 | SCA4, ZFHX3
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| Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
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| Chen Z, Gustavsson EK, Macpherson H, Anderson C, Clarkson C, Rocca C, Self E, Alvarez Jerez P, Scardamaglia A, Pellerin D, Montgomery K, Lee J, Gagliardi D, Luo H; Genomics England Research Consortium; Hardy J, Polke J, Singleton AB, Blauwendraat C, Mathews KD, Tucci A, Fu YH, Houlden H, Ryten M, Ptáček LJ.
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| Mov Disord. Jan 10. doi: 10.1002/mds.29704. Epub ahead of print 2024
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| 3 | SCA4
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| Molecular genetic analysis of a new form of spinocerebellar ataxia in a Chinese Han family.
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| Yuan Y, Zhou X, Ding F, Liu Y, Tu J.
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| Neurosci Lett 479(3):321-6.
2010
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| 4 | SCA4
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| Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.
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| Amino T, Ishikawa K, Toru S, Ishiguro T, Sato N, Tsunemi T, Murata M, Kobayashi K, Inazawa J, Toda T, Mizusawa H.
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| J Hum Genet 52(8):643-9. Epub 2007 Jul 5. 2007
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| 5 | SCA4, SCA24
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| Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families.
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| Basri R, Yabe I, Soma H, Sasaki H.
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| J Hum Genet 52(10):848-55. Epub 2007 Sep 5. 2007
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| 6 | SCA4
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| Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population.
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| Nozaki H, Ikeuchi T, Kawakami A, Kimura A, Koide R, Tsuchiya M, Nakmura Y, Mutoh T, Yamamoto H, Nakao N, Sahashi K, Nishizawa M, Onodera O.
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| Mov Disord 22(6):857-62. 2007
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| 7 | PLEKHG4, SCA4
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| Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.
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| Wieczorek S, Arning L, Alheite I, Epplen JT.
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| J Hum Genet 51(4):363-7. Epub 2006 Feb 21. 2006
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| 8 | SCA4
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| 16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study.
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| Ouyang Y, Sakoe K, Shimazaki H, Namekawa M, Ogawa T, Ando Y, Kawakami T, Kaneko J, Hasegawa Y, Yoshizawa K, Amino T, Ishikawa K, Mizusawa H, Nakano I, Takiyama Y.
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| J Neurol Sci 247(2):180-6. Epub 2006 Jun 15. 2006
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| 9 | PLEKHG4, SCA31, SCA4
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| An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and rho Guanine-nucleotide exchange-factor domains.
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| Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T, Owada K, Fujigasaki H, Sakamoto M, Tomimitsu H, Takashima M, Kumagai J, Noguchi Y, Kawashima Y, Ohkoshi N, Ishida G, Gomyoda M, Yoshida M, Hashizume Y, Saito Y, Murayama S, Yamanouchi H, Mizutani T, Kondo I, Toda T, Mizusawa H.
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| Am J Hum Genet 77(2):280-96. Epub 2005 Jul 6. 2005
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| 10 | SCA4
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| Spinocerebellar ataxia type 4. Investigation of 34 candidate genes.
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| Hellenbroich Y, Pawlack H, Rub U, Schwinger E, Zuhlke Ch.
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| J Neurol 252(12):1472-5. Epub 2005 Jul 7. 2005
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| 11 | SCA4
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| A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan.
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| Takashima M, Ishikawa K, Nagaoka U, Shoji S, Mizusawa H.
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| J Hum Genet 46(4):167-71. 2001
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| 12 | SCA4
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| A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia.
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| Nagaoka U, Takashima M, Ishikawa K, Yoshizawa K, Yoshizawa T, Ishikawa M, Yamawaki T, Shoji S, Mizusawa H.
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| Neurology 54(10):1971-5. 2000
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| 13 | SCA4
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| Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4) : clinical description and genetic localization to chromosome 16q22.1.
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| Flanigan K, et al.
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| Am J Hum Genet 59 : 392-399. 1996
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| 14 | SCA4
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| Autosomal dominant spinocerebellar ataxia : clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred.
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| Gardner K, et al.
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| Neurology 44 : 921S. 1994
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