PubMed for id: 336515

Year	Number of Results
1978	1
1982	1
1983	1
2004	2
2006	1
2007	1
2011	2
2012	1
2016	1
2024	0

1

A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Miyatake S, Miyake N, Doi H, Saitsu H, Ogata K, Kawai M, Matsumoto N. Miyatake S, et al. Intern Med. 2012;51(16):2221-6. doi: 10.2169/internalmedicine.51.7374. Epub 2012 Aug 15. Intern Med. 2012. PMID: 22892508 Free article.

2

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene.

Narayanan V, Rice SG, Olfers SS, Sivakumar K. Narayanan V, et al. J Child Neurol. 2011 Dec;26(12):1585-9. doi: 10.1177/0883073811412825. Epub 2011 Jul 10. J Child Neurol. 2011. PMID: 21745802

3

Identification of a SACS gene missense mutation in ARSACS.

Ogawa T, Takiyama Y, Sakoe K, Mori K, Namekawa M, Shimazaki H, Nakano I, Nishizawa M. Ogawa T, et al. Neurology. 2004 Jan 13;62(1):107-9. doi: 10.1212/01.wnl.0000099371.14478.73. Neurology. 2004. PMID: 14718708

4

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.

Grieco GS, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli FM. Grieco GS, et al. Neurology. 2004 Jan 13;62(1):103-6. doi: 10.1212/01.wnl.0000104491.66816.77. Neurology. 2004. PMID: 14718707

5

[Recessive autosomal spastic ataxia].

Giroud M, Bouchard JP, Verret S, Fortin G. Giroud M, et al. Arch Fr Pediatr. 1983 Jun-Jul;40(6):483-5. Arch Fr Pediatr. 1983. PMID: 6625848 French.

6

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Bouchard JP, Barbeau A, Bouchard R, Bouchard RW. Bouchard JP, et al. Can J Neurol Sci. 1978 Feb;5(1):61-9. Can J Neurol Sci. 1978. PMID: 647499

7

Retinal nerve fiber layer thickening in ARSACS carriers.

van Lint M, Hoornaert K, Ten Tusscher MPM. van Lint M, et al. J Neurol Sci. 2016 Nov 15;370:119-122. doi: 10.1016/j.jns.2016.09.023. Epub 2016 Sep 14. J Neurol Sci. 2016. PMID: 27772739

8

Posterior non-vascularized proliferative extraretinopathy and peripheral nodular retinal telangiectasis.

Baines PS, Hiscott PS, McLeod D. Baines PS, et al. Trans Ophthalmol Soc U K (1962). 1982;102 (Pt 4):487-91. Trans Ophthalmol Soc U K (1962). 1982. PMID: 6964653

9

Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients.

Pablo LE, Garcia-Martin E, Gazulla J, Larrosa JM, Ferreras A, Santorelli FM, Benavente I, Vela A, Marin MA. Pablo LE, et al. Mol Vis. 2011;17:1871-6. Epub 2011 Jul 13. Mol Vis. 2011. PMID: 21850161 Free PMC article.

10

Sacsinopathies: sacsin-related ataxia.

Takiyama Y. Takiyama Y. Cerebellum. 2007;6(4):353-9. doi: 10.1080/14734220701230466. Epub 2007 Feb 28. Cerebellum. 2007. PMID: 17853117

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