Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

207 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
Sequeiros J, Martindale J, Seneca S, Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, Wieczorek S, Zühlke C, Saraiva-Pereira ML, Warner J, Leguern E, Thonney F, Quintáns Castro B, Jonasson J, Storm K, Andersson A, Ravani A, Correia L, Silveira I, Alonso I, Martins C, Pinto Basto J, Coutinho P, Perdigão A, Barton D, Davis M; European Molecular Quality Genetics Network. Sequeiros J, et al. Among authors: giunti p. Eur J Hum Genet. 2010 Nov;18(11):1173-6. doi: 10.1038/ejhg.2010.8. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179742 Free PMC article.
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.
Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, Jardim LB, Giunti P, Riess O, Ranum LP, Brice A, Rouleau GA, Coutinho P, Amorim A, Sequeiros J. Martins S, et al. Among authors: giunti p. Arch Neurol. 2007 Oct;64(10):1502-8. doi: 10.1001/archneur.64.10.1502. Arch Neurol. 2007. PMID: 17923634
Episodic Ataxias: Faux or Real?
Giunti P, Mantuano E, Frontali M. Giunti P, et al. Int J Mol Sci. 2020 Sep 5;21(18):6472. doi: 10.3390/ijms21186472. Int J Mol Sci. 2020. PMID: 32899446 Free PMC article. Review.
The role of interruptions in polyQ in the pathology of SCA1.
Menon RP, Nethisinghe S, Faggiano S, Vannocci T, Rezaei H, Pemble S, Sweeney MG, Wood NW, Davis MB, Pastore A, Giunti P. Menon RP, et al. Among authors: giunti p. PLoS Genet. 2013;9(7):e1003648. doi: 10.1371/journal.pgen.1003648. Epub 2013 Jul 25. PLoS Genet. 2013. PMID: 23935513 Free PMC article.
207 results