PubMed for id: 373347

Year	Number of Results
1999	1
2004	1
2005	2
2010	1
2011	1
2012	1
2022	1
2023	1

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.

2

Spinocerebellar ataxia with sensory neuropathy (SCA25).

Stevanin G, Broussolle E, Streichenberger N, Kopp N, Brice A, Durr A. Stevanin G, et al. Cerebellum. 2005;4(1):58-61. doi: 10.1080/14734220510007932. Cerebellum. 2005. PMID: 15895562

3

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.

Stevanin G, Bouslam N, Thobois S, Azzedine H, Ravaux L, Boland A, Schalling M, Broussolle E, Dürr A, Brice A. Stevanin G, et al. Ann Neurol. 2004 Jan;55(1):97-104. doi: 10.1002/ana.10798. Ann Neurol. 2004. PMID: 14705117

4

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.

5

Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.

Whaley NR, Fujioka S, Wszolek ZK. Whaley NR, et al. Orphanet J Rare Dis. 2011 May 28;6:33. doi: 10.1186/1750-1172-6-33. Orphanet J Rare Dis. 2011. PMID: 21619691 Free PMC article. Review.

6

Molecular genetic analysis of a new form of spinocerebellar ataxia in a Chinese Han family.

Yuan Y, Zhou X, Ding F, Liu Y, Tu J. Yuan Y, et al. Neurosci Lett. 2010 Aug 2;479(3):321-6. doi: 10.1016/j.neulet.2010.05.089. Neurosci Lett. 2010. PMID: 20641168

7

The wide spectrum of spinocerebellar ataxias (SCAs).

Manto MU. Manto MU. Cerebellum. 2005;4(1):2-6. doi: 10.1080/14734220510007914. Cerebellum. 2005. PMID: 15895552 Review.

8

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

9

Autosomal dominant cerebellar ataxias: new genes and progress towards treatments.

Coarelli G, Coutelier M, Durr A. Coarelli G, et al. Lancet Neurol. 2023 Aug;22(8):735-749. doi: 10.1016/S1474-4422(23)00068-6. Lancet Neurol. 2023. PMID: 37479376 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

9 results

Results by year