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Items: 1 to 20 of 21

1.

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS.

Brain. 2010 Dec;133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23.

PMID:
21106500
2.

Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.

Bakalkin G, Watanabe H, Jezierska J, Depoorter C, Verschuuren-Bemelmans C, Bazov I, Artemenko KA, Yakovleva T, Dooijes D, Van de Warrenburg BP, Zubarev RA, Kremer B, Knapp PE, Hauser KF, Wijmenga C, Nyberg F, Sinke RJ, Verbeek DS.

Am J Hum Genet. 2010 Nov 12;87(5):593-603. doi: 10.1016/j.ajhg.2010.10.001. Epub 2010 Oct 28. Erratum in: Am J Hum Genet. 2010 Nov 12;87(5):736.

3.

Mutations in SACS cause atypical and late-onset forms of ARSACS.

Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P.

Neurology. 2010 Sep 28;75(13):1181-8. doi: 10.1212/WNL.0b013e3181f4d86c.

PMID:
20876471
4.

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.

Durr A.

Lancet Neurol. 2010 Sep;9(9):885-94. doi: 10.1016/S1474-4422(10)70183-6. Review.

PMID:
20723845
5.

Sporadic ataxia with adult onset: classification and diagnostic criteria.

Klockgether T.

Lancet Neurol. 2010 Jan;9(1):94-104. doi: 10.1016/S1474-4422(09)70305-9. Review.

PMID:
20083040
6.

Sequencing technologies - the next generation.

Metzker ML.

Nat Rev Genet. 2010 Jan;11(1):31-46. doi: 10.1038/nrg2626. Epub 2009 Dec 8. Review.

PMID:
19997069
7.

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.

Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H.

Am J Hum Genet. 2009 Nov;85(5):544-57. doi: 10.1016/j.ajhg.2009.09.019. Epub 2009 Oct 29.

8.

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.

Bernard V, Minnerop M, Bürk K, Kreuz F, Gillessen-Kaesbach G, Zühlke C.

BMC Med Genet. 2009 Sep 11;10:87. doi: 10.1186/1471-2350-10-87.

9.

Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2.

Fogel BL, Lee JY, Perlman S.

Cerebellum. 2009 Dec;8(4):448-53. doi: 10.1007/s12311-009-0130-8.

10.

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M.

Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20.

PMID:
19696032
11.

Second consensus statement on the diagnosis of multiple system atrophy.

Gilman S, Wenning GK, Low PA, Brooks DJ, Mathias CJ, Trojanowski JQ, Wood NW, Colosimo C, Dürr A, Fowler CJ, Kaufmann H, Klockgether T, Lees A, Poewe W, Quinn N, Revesz T, Robertson D, Sandroni P, Seppi K, Vidailhet M.

Neurology. 2008 Aug 26;71(9):670-6. doi: 10.1212/01.wnl.0000324625.00404.15.

12.

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B.

Neurogenetics. 2008 Jul;9(3):207-14. doi: 10.1007/s10048-008-0131-7. Epub 2008 May 9. Erratum in: Neurogenetics. 2009 Feb;10(1):87.

13.

Genomic rearrangements and sporadic disease.

Lupski JR.

Nat Genet. 2007 Jul;39(7 Suppl):S43-7. Review.

PMID:
17597781
14.

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.

Dupré N, Gros-Louis F, Chrestian N, Verreault S, Brunet D, de Verteuil D, Brais B, Bouchard JP, Rouleau GA.

Ann Neurol. 2007 Jul;62(1):93-8.

PMID:
17503513
15.

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.

Fogel BL, Perlman S.

Lancet Neurol. 2007 Mar;6(3):245-57. Review.

PMID:
17303531
16.

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

Gros-Louis F, Dupré N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA.

Nat Genet. 2007 Jan;39(1):80-5. Epub 2006 Dec 10.

PMID:
17159980
17.

Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

Fogel BL, Perlman S.

Neurology. 2006 Dec 12;67(11):2083-4. No abstract available.

PMID:
17159128
18.

An approach to the patient with late-onset cerebellar ataxia.

Fogel BL, Perlman S.

Nat Clin Pract Neurol. 2006 Nov;2(11):629-35; quiz 1 p following 635.

PMID:
17057750
19.

Lamin B1 duplications cause autosomal dominant leukodystrophy.

Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptácek LJ, Fu YH.

Nat Genet. 2006 Oct;38(10):1114-23. Epub 2006 Sep 3. Erratum in: Nat Genet. 2007 Feb;39(2):276.

PMID:
16951681
20.

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.

Richter AM, Ozgul RK, Poisson VC, Topaloglu H.

Neurogenetics. 2004 Sep;5(3):165-70. Epub 2004 May 20.

PMID:
15156359

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