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Items: 1 to 20 of 369

1.

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.

Stevanin G, Fujigasaki H, Lebre AS, Camuzat A, Jeannequin C, Dode C, Takahashi J, San C, Bellance R, Brice A, Durr A.

Brain. 2003 Jul;126(Pt 7):1599-603. Epub 2003 May 6.

PMID:
12805114
2.

Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.

Sułek-Piatkowska A, Krysa W, Zdzienicka E, Szirkowiec W, Hoffman-Zacharska D, Rajkiewicz M, Fidziańska E, Kowalska G, Zaremba J.

Neurol Neurochir Pol. 2008 May-Jun;42(3):203-9.

PMID:
18651325
3.

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

Oda M, Maruyama H, Komure O, Morino H, Terasawa H, Izumi Y, Imamura T, Yasuda M, Ichikawa K, Ogawa M, Matsumoto M, Kawakami H.

Arch Neurol. 2004 Feb;61(2):209-12.

PMID:
14967767
4.

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.

Costa Mdo C, Teixeira-Castro A, Constante M, Magalhães M, Magalhães P, Cerqueira J, Vale J, Passão V, Barbosa C, Robalo C, Coutinho P, Barros J, Santos MM, Sequeiros J, Maciel P.

J Hum Genet. 2006;51(8):645-51. Epub 2006 Jul 21.

5.

[Importance of the number of trinucleotide repeat expansions in the clinical manifestations of Huntington's chorea].

Vojvodić N, Culjković B, Romac S, Stojković O, Sternić N, Sokić D, Kostić VS.

Srp Arh Celok Lek. 1998 Mar-Apr;126(3-4):77-82. Serbian.

PMID:
9863360
6.

The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test.

Schneider SA, Walker RH, Bhatia KP.

Nat Clin Pract Neurol. 2007 Sep;3(9):517-25. Review.

PMID:
17805246
7.

Huntington's disease-like 2 in Brazil--report of 4 patients.

Rodrigues GG, Walker RH, Brice A, Cazeneuve C, Russaouen O, Teive HA, Munhoz RP, Becker N, Raskin S, Werneck LC, Junior WM, Tumas V.

Mov Disord. 2008 Nov 15;23(15):2244-7. doi: 10.1002/mds.22223.

PMID:
18816802
8.

Huntington's Disease-like 2 (HDL2) in North America and Japan.

Margolis RL, Holmes SE, Rosenblatt A, Gourley L, O'Hearn E, Ross CA, Seltzer WK, Walker RH, Ashizawa T, Rasmussen A, Hayden M, Almqvist EW, Harris J, Fahn S, MacDonald ME, Mysore J, Shimohata T, Tsuji S, Potter N, Nakaso K, Adachi Y, Nakashima K, Bird T, Krause A, Greenstein P.

Ann Neurol. 2004 Nov;56(5):670-4. Erratum in: Ann Neurol. 2004 Dec;56(6):911.

PMID:
15468075
9.

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.

Bauer I, Gencik M, Laccone F, Peters H, Weber BH, Feder EH, Weirich H, Morris-Rosendahl DJ, Rolfs A, Gencikova A, Bauer P, Wenning GK, Epplen JT, Holmes SE, Margolis RL, Ross CA, Riess O.

Ann Neurol. 2002 May;51(5):662. No abstract available.

PMID:
12112122
10.

Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation.

Bech S, Petersen T, Nørremølle A, Gjedde A, Ehlers L, Eiberg H, Hjermind LE, Hasholt L, Lundorf E, Nielsen JE.

Parkinsonism Relat Disord. 2010 Jan;16(1):12-5. doi: 10.1016/j.parkreldis.2009.06.006.

PMID:
19595623
11.

Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.

Wu YR, Lin HY, Chen CM, Gwinn-Hardy K, Ro LS, Wang YC, Li SH, Hwang JC, Fang K, Hsieh-Li HM, Li ML, Tung LC, Su MT, Lu KT, Lee-Chen GJ.

Clin Genet. 2004 Mar;65(3):209-14.

PMID:
14756671
12.

Huntington disease-like 2: the first patient with apparent European ancestry.

Santos C, Wanderley H, Vedolin L, Pena SD, Jardim L, Sequeiros J.

Clin Genet. 2008 May;73(5):480-5. doi: 10.1111/j.1399-0004.2008.00981.x. Epub 2008 Mar 12.

PMID:
18341606
14.
15.

SCA17 repeat expansion: mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications.

Chen CM, Lee LC, Soong BW, Fung HC, Hsu WC, Lin PY, Huang HJ, Chen FL, Lin CY, Lee-Chen GJ, Wu YR.

Clin Chim Acta. 2010 Mar;411(5-6):375-80. doi: 10.1016/j.cca.2009.12.002. Epub 2009 Dec 11.

PMID:
20004653
16.

Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).

Stevanin G, Brice A.

Cerebellum. 2008;7(2):170-8. doi: 10.1007/s12311-008-0016-1.

17.

Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions.

Hire RR, Katrak SM, Vaidya S, Radhakrishnan K, Seshadri M.

Clin Genet. 2011 Nov;80(5):472-7. doi: 10.1111/j.1399-0004.2010.01589.x. Epub 2010 Nov 25.

PMID:
21108634
18.

Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?

Zühlke C, Gehlken U, Hellenbroich Y, Schwinger E, Bürk K.

J Neurol. 2003 Feb;250(2):161-3.

PMID:
12574945
19.

Huntington's disease and Huntington's disease-like syndromes: an overview.

Gövert F, Schneider SA.

Curr Opin Neurol. 2013 Aug;26(4):420-7. doi: 10.1097/WCO.0b013e3283632d90. Review.

PMID:
23812307
20.

Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia.

Xu Q, Li XH, Wang JL, Jiang H, Zhang S, Lei LF, Shen L, Xia K, Pan Q, Long ZG, Tang BS.

J Clin Neurosci. 2009 Oct;16(10):1374-5. doi: 10.1016/j.jocn.2009.05.004. Epub 2009 Jul 5.

PMID:
19581089

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