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Items: 1 to 20 of 120

1.

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH.

Nat Genet. 2002 Aug;31(4):347-8. Epub 2002 Jul 22.

PMID:
12134148
2.

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.

Ciccarelli FD, Proukakis C, Patel H, Cross H, Azam S, Patton MA, Bork P, Crosby AH.

Genomics. 2003 Apr;81(4):437-41.

PMID:
12676568
3.

The hereditary spastic paraplegia protein spartin localises to mitochondria.

Lu J, Rashid F, Byrne PC.

J Neurochem. 2006 Sep;98(6):1908-19.

4.

Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.

Tang B, Zhao G, Xia K, Pan Q, Luo W, Shen L, Long Z, Dai H, Zi X, Jiang H.

Arch Neurol. 2004 Jan;61(1):49-55.

PMID:
14732620
5.

A novel mutation in the spastin gene in a family with spastic paraplegia.

Morita M, Ho M, Hosler BA, McKenna-Yasek D, Brown RH Jr.

Neurosci Lett. 2002 May 31;325(1):57-61.

PMID:
12023066
6.

A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family.

Qin W, Zhang T, Han J, Tang L, Li X, Feng G, Liu W, He L.

J Neurol Sci. 2003 Jun 15;210(1-2):35-9.

PMID:
12736085
7.

The Troyer syndrome (SPG20) protein spartin interacts with Eps15.

Bakowska JC, Jenkins R, Pendleton J, Blackstone C.

Biochem Biophys Res Commun. 2005 Sep 9;334(4):1042-8.

PMID:
16036216
8.

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.

Mannan AU, Krawen P, Sauter SM, Boehm J, Chronowska A, Paulus W, Neesen J, Engel W.

Am J Hum Genet. 2006 Aug;79(2):351-7. Epub 2006 Jun 1.

9.

Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking.

Bakowska JC, Jupille H, Fatheddin P, Puertollano R, Blackstone C.

Mol Biol Cell. 2007 May;18(5):1683-92. Epub 2007 Mar 1.

10.

Hereditary spastic paraplegia: spastin phenotype and function.

Fink JK, Rainier S.

Arch Neurol. 2004 Jun;61(6):830-3. Review. No abstract available.

PMID:
15210518
11.

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.

Wilkinson PA, Simpson MA, Bastaki L, Patel H, Reed JA, Kalidas K, Samilchuk E, Khan R, Warner TT, Crosby AH.

J Med Genet. 2005 Jan;42(1):80-2. No abstract available.

12.

SPG20 mutation in three siblings with familial hereditary spastic paraplegia.

Dardour L, Roelens F, Race V, Souche E, Holvoet M, Devriendt K.

Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4). pii: a001537. doi: 10.1101/mcs.a001537. Print 2017 Jul.

13.

Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.

McDermott CJ, Grierson AJ, Wood JD, Bingley M, Wharton SB, Bushby KM, Shaw PJ.

Ann Neurol. 2003 Dec;54(6):748-59.

PMID:
14681884
14.

Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia.

Iwanaga H, Tsujino A, Shirabe S, Eguchi H, Fukushima N, Niikawa N, Yoshiura K, Eguchi K.

Am J Med Genet A. 2005 Feb 15;133A(1):13-7.

PMID:
15637712
15.

Three cases of Troyer syndrome in two families of Filipino descent.

Butler S, Helbig KL, Alcaraz W, Seaver LH, Hsieh DT, Rohena L.

Am J Med Genet A. 2016 Jul;170(7):1780-5. doi: 10.1002/ajmg.a.37658. Epub 2016 Apr 26.

PMID:
27112432
16.

Novel mutation of the Spastin gene in familial spastic paraplegia.

De Bantel A, McWilliams S, Auysh D, Echol C, Sambuughin N, Sivakumar K.

Clin Genet. 2001 May;59(5):364-5. No abstract available.

PMID:
11359470
17.

Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.

Hentati A, Deng HX, Zhai H, Chen W, Yang Y, Hung WY, Azim AC, Bohlega S, Tandan R, Warner C, Laing NG, Cambi F, Mitsumoto H, Roos RP, Boustany RM, Ben Hamida M, Hentati F, Siddique T.

Neurology. 2000 Nov 14;55(9):1388-90.

PMID:
11087788
18.

Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.

Pantakani DV, Zechner U, Arygriou L, Pauli S, Sauter SM, Mannan AU.

Clin Genet. 2008 Mar;73(3):268-72. doi: 10.1111/j.1399-0004.2007.00953.x. Epub 2007 Jan 9.

PMID:
18190593
19.

Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.

Proukakis C, Hart PE, Cornish A, Warner TT, Crosby AH.

J Neurol Sci. 2002 Sep 15;201(1-2):65-9.

PMID:
12163196
20.

Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.

Schüle R, Bonin M, Dürr A, Forlani S, Sperfeld AD, Klimpe S, Mueller JC, Seibel A, van de Warrenburg BP, Bauer P, Schöls L.

Neurology. 2009 Jun 2;72(22):1893-8. doi: 10.1212/WNL.0b013e3181a6086c. Epub 2009 Apr 8.

PMID:
19357379

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