| 1 | ALDH18A1, SPG9
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| ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
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| Panza E, Escamilla-Honrubia JM, Marco-Marín C, Gougeard N, De Michele G, Brescia Morra V, Liguori R, Salviati L, Donati MA, Cusano R, Pippucci T, Ravazzolo R, Németh AH, Smithson S, Davies S, Hurst JA, Bordo D, Rubio V, Seri M.
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| Brain rain. 2015 Aug 21. pii: awv247. [Epub ahead of print] No abstract available.
2015
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| 2 | ATL1, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31, SPG33, SPG3A, SPG4, SPG41, SPG6, SPG8, SPG9
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| A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
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| Zhao GH, Hu ZM, Shen L, Jiang H, Ren ZJ, Liu XM, Xia K, Guo P, Pan Q, Tang BS.
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| Chin Med J (Engl) 121(5):430-4. 2008
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| 3 | SPG9
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| A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2.
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| Lo Nigro C, Cusano R, Scaranari M, Cinti R, Forabosco P, Morra VB, De Michele G, Santoro L, Davies S, Hurst J, Devoto M, Ravazzolo R, Seri M.
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| Eur J Hum Genet 8(10):777-82. 2000
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| 4 | SPG9
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| Genetic mapping to 10q23.3-q24.2, in a large italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.
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| Seri M, et al.
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| Am J Hum Genet 64(2):586-93. 1999
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