204 related articles for article (PubMed ID: 27629539)
21. [From gene to disease; spastin and hereditary spastic paraparesis].
Bruyn RP; Frants RR
Ned Tijdschr Geneeskd; 2004 Jan; 148(4):179-81. PubMed ID: 14974310
[TBL] [Abstract][Full Text] [Related]
22. Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
Shoukier M; Neesen J; Sauter SM; Argyriou L; Doerwald N; Pantakani DV; Mannan AU
Eur J Hum Genet; 2009 Feb; 17(2):187-94. PubMed ID: 18701882
[TBL] [Abstract][Full Text] [Related]
23. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
Sauter S; Miterski B; Klimpe S; Bönsch D; Schöls L; Visbeck A; Papke T; Hopf HC; Engel W; Deufel T; Epplen JT; Neesen J
Hum Mutat; 2002 Aug; 20(2):127-32. PubMed ID: 12124993
[TBL] [Abstract][Full Text] [Related]
24. Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.
Proukakis C; Moore D; Labrum R; Wood NW; Houlden H
J Neurol Sci; 2011 Jul; 306(1-2):62-5. PubMed ID: 21546041
[TBL] [Abstract][Full Text] [Related]
25. Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
de Bot ST; van den Elzen RT; Mensenkamp AR; Schelhaas HJ; Willemsen MA; Knoers NV; Kremer HP; van de Warrenburg BP; Scheffer H
J Neurol Neurosurg Psychiatry; 2010 Oct; 81(10):1073-8. PubMed ID: 20562464
[TBL] [Abstract][Full Text] [Related]
26. A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.
Aulitzky A; Friedrich K; Gläser D; Gastl R; Kubisch C; Ludolph AC; Volk AE
J Neurol Sci; 2014 Dec; 347(1-2):352-5. PubMed ID: 25315759
[TBL] [Abstract][Full Text] [Related]
27. [Spastin gene mutation in Chinese patients with hereditary spastic paraplegia].
Zhao GH; Tang BS; Luo W; Xia K; Zhuang MY; Kong FB; Yan XX; Deng HX; Xiao JF; Xia JH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Jun; 20(3):177-80. PubMed ID: 12778437
[TBL] [Abstract][Full Text] [Related]
28. [Hereditary spastic paraplegia type 4 (SPG4): clinical and molecular-genetic characteristics].
Rudenskaia GE; Sermiagina IG; Illarioshkin SN; Sidorova OP; Fedotov VP; Poliakov AV
Zh Nevrol Psikhiatr Im S S Korsakova; 2010; 110(6):12-9. PubMed ID: 20559269
[TBL] [Abstract][Full Text] [Related]
29. [Clinical characteristics and spastin gene mutation analysis on an autosomal dominant kindred with hereditary spastic paraplegia].
Liu L; Liu YQ; Xu YM; Xue R; Tang YF; Zhao LL; Liu YH; Zhou D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Apr; 24(2):224-6. PubMed ID: 17407089
[TBL] [Abstract][Full Text] [Related]
30. Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
Svenstrup K; Bross P; Koefoed P; Hjermind LE; Eiberg H; Born AP; Vissing J; Gyllenborg J; Nørremølle A; Hasholt L; Nielsen JE
J Neurol Sci; 2009 Sep; 284(1-2):90-5. PubMed ID: 19423133
[TBL] [Abstract][Full Text] [Related]
31. Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
Solowska JM; Baas PW
Brain; 2015 Sep; 138(Pt 9):2471-84. PubMed ID: 26094131
[TBL] [Abstract][Full Text] [Related]
32. First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.
Magariello A; Tortorella C; Patitucci A; Tortelli R; Liguori M; Mazzei R; Conforti FL; Citrigno L; Ungaro C; Simone IL; Muglia M
Eur J Neurol; 2013 Jan; 20(1):e22-3. PubMed ID: 23279441
[No Abstract] [Full Text] [Related]
33. Spastin gene mutation in Japanese with hereditary spastic paraplegia.
Yabe I; Sasaki H; Tashiro K; Matsuura T; Takegami T; Satoh T
J Med Genet; 2002 Aug; 39(8):e46. PubMed ID: 12161613
[No Abstract] [Full Text] [Related]
34. Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.
Yip AG; Dürr A; Marchuk DA; Ashley-Koch A; Hentati A; Rubinsztein DC; Reid E
J Med Genet; 2003 Sep; 40(9):e106. PubMed ID: 12960222
[No Abstract] [Full Text] [Related]
35. Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family.
Miura S; Shibata H; Kida H; Noda K; Toyama T; Iwasaki N; Iwaki A; Ayabe M; Aizawa H; Taniwaki T; Fukumaki Y
Neurogenetics; 2011 Feb; 12(1):25-31. PubMed ID: 20857310
[TBL] [Abstract][Full Text] [Related]
36. A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation.
Scarlato M; Nuara A; Gerevini S; Benedetti S; Rossi P; Ferrari M; Previtali SC
J Neurol; 2015 Feb; 262(2):476-8. PubMed ID: 25511172
[No Abstract] [Full Text] [Related]
37. Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia.
Chelban V; Lynch DS; Houlden H; Wood N
J Neurol; 2016 Jun; 263(6):1232-3. PubMed ID: 27025852
[No Abstract] [Full Text] [Related]
38. Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
Ivanova N; Löfgren A; Tournev I; Rousev R; Andreeva A; Jordanova A; Georgieva V; Deconinck T; Timmerman V; Kremensky I; De Jonghe P; Mitev V
Clin Genet; 2006 Dec; 70(6):490-5. PubMed ID: 17100993
[TBL] [Abstract][Full Text] [Related]
39. A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations.
Abrahamsen G; Fan Y; Matigian N; Wali G; Bellette B; Sutharsan R; Raju J; Wood SA; Veivers D; Sue CM; Mackay-Sim A
Dis Model Mech; 2013 Mar; 6(2):489-502. PubMed ID: 23264559
[TBL] [Abstract][Full Text] [Related]
40. Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.
Magariello A; Muglia M; Patitucci A; Mazzei R; Conforti FL; Gabriele AL; Sprovieri T; Ungaro C; Gambardella A; Mancuso M; Siciliano G; Branca D; Aguglia U; de Angelis MV; Longo K; Quattrone A
Neuromuscul Disord; 2006 Jun; 16(6):387-90. PubMed ID: 16684598
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
