| 1 | GRID2, SCAR18
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| GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
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| Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, Héron D, Stevanin G, Durr A.
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| Neurology 84(17):1751-9. doi: 10.1212/WNL.0000000000001524. Epub 2015 Apr 3.
2015
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| 2 | GRID2, SCAR18
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| Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.
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| Van Schil K, Meire F, Karlstetter M, Bauwens M, Verdin H, Coppieters F, Scheiffert E, Van Nechel C, Langmann T, Deconinck N, De Baere E.
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| Genet Med 17(4):291-9. doi: 10.1038/gim.2014.95. Epub 2014 Aug 14.
2015
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| 3 | GRID2, SCAR18
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| GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
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| Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, Héron D, Stevanin G, Durr A.
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| Neurology 84(17):1751-9. doi: 10.1212/WNL.0000000000001524. Epub 2015 Apr 3.
2015
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| 4 | GRID2, SCAR18
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| Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
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| Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH.
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| Neurology 81(16):1378-86. doi: 10.1212/WNL.0b013e3182a841a3. Epub 2013 Sep 27.
2013
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| 5 | GRID2, SCAR18
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| A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.
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| Utine GE, Haliloğlu G, Salanci B, Çetinkaya A, Kiper PÖ, Alanay Y, Aktas D, Boduroğlu K, Alikaşifoğlu M.
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| J Child Neurol 28(7):926-32. doi: 10.1177/0883073813484967. Epub 2013 Apr 22.
2013
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