Spastin
قراءة متعمقة

Kikuno R، Nagase T، Ishikawa K، وآخرون (1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. ج. 6 ع. 3: 197–205. DOI:10.1093/dnares/6.3.197. PMID:10470851.
Hazan J، Davoine CS، Mavel D، وآخرون (1999). "A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia". Genomics. ج. 60 ع. 3: 309–19. DOI:10.1006/geno.1999.5932. PMID:10493830.
Hazan J، Fonknechten N، Mavel D، وآخرون (1999). "Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia". Nat. Genet. ج. 23 ع. 3: 296–303. DOI:10.1038/15472. PMID:10610178.
Fonknechten N، Mavel D، Byrne P، وآخرون (2000). "Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia". Hum. Mol. Genet. ج. 9 ع. 4: 637–44. DOI:10.1093/hmg/9.4.637. PMID:10699187.
Santorelli FM، Patrono C، Fortini D، وآخرون (2000). "Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation". Neurology. ج. 55 ع. 5: 702–5. DOI:10.1212/wnl.55.5.702. PMID:10980739.
Lindsey JC، Lusher ME، McDermott CJ، وآخرون (2001). "Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis". J. Med. Genet. ج. 37 ع. 10: 759–65. DOI:10.1136/jmg.37.10.759. PMC:1757167. PMID:11015453.
Bürger J، Fonknechten N، Hoeltzenbein M، وآخرون (2001). "Hereditary spastic paraplegia caused by mutations in the SPG4 gene". Eur. J. Hum. Genet. ج. 8 ع. 10: 771–6. DOI:10.1038/sj.ejhg.5200528. PMID:11039577.
Hentati A، Deng HX، Zhai H، وآخرون (2000). "Novel mutations in spastin gene and absence of correlation with age at onset of symptoms". Neurology. ج. 55 ع. 9: 1388–90. DOI:10.1212/wnl.55.9.1388. PMID:11087788.
Svenson IK، Ashley-Koch AE، Gaskell PC، وآخرون (2001). "Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia". Am. J. Hum. Genet. ج. 68 ع. 5: 1077–85. DOI:10.1086/320111. PMC:1226088. PMID:11309678.
Svenson IK، Ashley-Koch AE، Pericak-Vance MA، Marchuk DA (2002). "A second leaky splice-site mutation in the spastin gene". Am. J. Hum. Genet. ج. 69 ع. 6: 1407–9. DOI:10.1086/324593. PMC:1235553. PMID:11704932.
Errico A، Ballabio A، Rugarli EI (2002). "Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics". Hum. Mol. Genet. ج. 11 ع. 2: 153–63. DOI:10.1093/hmg/11.2.153. PMID:11809724.
Meijer IA، Hand CK، Cossette P، وآخرون (2002). "Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia". Arch. Neurol. ج. 59 ع. 2: 281–6. DOI:10.1001/archneur.59.2.281. PMID:11843700.
Patrono C، Casali C، Tessa A، وآخرون (2002). "Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia". J. Neurol. ج. 249 ع. 2: 200–5. DOI:10.1007/PL00007865. PMID:11985387.
Morita M، Ho M، Hosler BA، وآخرون (2002). "A novel mutation in the spastin gene in a family with spastic paraplegia". Neurosci. Lett. ج. 325 ع. 1: 57–61. DOI:10.1016/S0304-3940(02)00239-2. PMID:12023066.
Sauter S، Miterski B، Klimpe S، وآخرون (2002). "Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia". Hum. Mutat. ج. 20 ع. 2: 127–32. DOI:10.1002/humu.10105. PMID:12124993.
Yabe I، Sasaki H، Tashiro K، وآخرون (2002). "Spastin gene mutation in Japanese with hereditary spastic paraplegia". J. Med. Genet. ج. 39 ع. 8: e46. DOI:10.1136/jmg.39.8.e46. PMC:1735214. PMID:12161613.
Proukakis C، Hart PE، Cornish A، وآخرون (2002). "Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia". J. Neurol. Sci. ج. 201 ع. 1–2: 65–9. DOI:10.1016/S0022-510X(02)00192-2. PMID:12163196.
Ki CS، Lee WY، Han DH، وآخرون (2002). "A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia". J. Hum. Genet. ج. 47 ع. 9: 473–7. DOI:10.1007/s100380200068. PMID:12202986.
Namekawa M، Takiyama Y، Sakoe K، وآخرون (2003). "A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity". Acta Neurol. Scand. ج. 106 ع. 6: 387–91. DOI:10.1034/j.1600-0404.2002.01254.x. PMID:12460147.
Starling A، Rocco P، Passos-Bueno MR، وآخرون (2003). "Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree". J. Med. Genet. ج. 39 ع. 12: e77. DOI:10.1136/jmg.39.12.e77. PMC:1757223. PMID:12471215.
| ع ن جينات الكروموسوم 2 | ع ن جينات الكروموسوم 2 |
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