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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
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2022 1
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PubMed for id: 373347

9 results

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Page 1
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Barbier M, Bahlo M, Pennisi A, Jacoupy M, Tankard RM, Ewenczyk C, Davies KC, Lino-Coulon P, Colace C, Rafehi H, Auger N, Ansell BRE, van der Stelt I, Howell KB, Coutelier M, Amor DJ, Mundwiller E, Guillot-Noël L, Storey E, Gardner RJM, Wallis MJ, Brusco A, Corti O, Rötig A, Leventer RJ, Brice A, Delatycki MB, Stevanin G, Lockhart PJ, Durr A. Barbier M, et al. Ann Neurol. 2022 Jul;92(1):122-137. doi: 10.1002/ana.26366. Epub 2022 May 7. Ann Neurol. 2022. PMID: 35411967 Free article.
Spinocerebellar ataxia 13 and 25.
Stevanin G, Dürr A. Stevanin G, et al. Handb Clin Neurol. 2012;103:549-53. doi: 10.1016/B978-0-444-51892-7.00035-8. Handb Clin Neurol. 2012. PMID: 21827913 Review.
Identification of the physiological promoter for spinocerebellar ataxia 2 gene reveals a CpG island for promoter activity situated into the exon 1 of this gene and provides data about the origin of the nonmethylated state of these types of islands.
Aguiar J, Santurlidis S, Nowok J, Alexander C, Rudnicki D, Gispert S, Schulz W, Auburger G. Aguiar J, et al. Biochem Biophys Res Commun. 1999 Jan 19;254(2):315-8. doi: 10.1006/bbrc.1998.9929. Biochem Biophys Res Commun. 1999. PMID: 9918835