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Results: 1 to 20 of 22

1.

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.

Pyle A, Griffin H, Duff J, Bennett S, Zwolinski S, Smertenko T, Yu-Wai Man P, Santibanez-Koref M, Horvath R, Chinnery PF.

J Neurogenet. 2013 Dec;27(4):176-82. doi: 10.3109/01677063.2013.831094. Epub 2013 Nov 4.

2.

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Tzoulis C, Johansson S, Haukanes BI, Boman H, Knappskog PM, Bindoff LA.

PLoS One. 2013 Jun 13;8(6):e66145. doi: 10.1371/journal.pone.0066145. Print 2013.

3.

Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia.

Liew WK, Ben-Omran T, Darras BT, Prabhu SP, De Vivo DC, Vatta M, Yang Y, Eng CM, Chung WK.

JAMA Neurol. 2013 Jun;70(6):788-91. doi: 10.1001/jamaneurol.2013.247.

PMID:
23699708
4.

Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Oguz KK, Haliloglu G, Temucin C, Gocmen R, Has AC, Doerschner K, Dolgun A, Alikasifoglu M.

AJNR Am J Neuroradiol. 2013 Oct;34(10):1952-7. doi: 10.3174/ajnr.A3488. Epub 2013 Apr 18.

5.

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L.

Orphanet J Rare Dis. 2013 Mar 15;8:41. doi: 10.1186/1750-1172-8-41.

6.

Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.

Dibilio V, Cavalcanti F, Nicoletti A, Mostile G, Bruno E, Annesi G, Tarantino P, Gagliardi M, Gambardella A, Quattrone A, Zappia M.

Cerebellum. 2013 Aug;12(4):589-92. doi: 10.1007/s12311-013-0451-5. No abstract available.

PMID:
23338241
7.

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Romano A, Tessa A, Barca A, Fattori F, de Leva MF, Terracciano A, Storelli C, Santorelli FM, Verri T.

Hum Mutat. 2013 Mar;34(3):525-37. doi: 10.1002/humu.22269.

8.

Diversity of ARSACS mutations in French-Canadians.

Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B.

Can J Neurol Sci. 2013 Jan;40(1):61-6.

PMID:
23250129
9.

Copy number variation in pediatric multiple sclerosis.

McElroy JP, Krupp LB, Johnson BA, McCauley JL, Qi Z, Caillier SJ, Gourraud PA, Yu J, Nathanson L, Belman AL, Hauser SL, Waubant E, Hedges DJ, Oksenberg JR.

Mult Scler. 2013 Jul;19(8):1014-21. doi: 10.1177/1352458512469696. Epub 2012 Dec 13.

PMID:
23239789
10.

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.

Intern Med. 2012;51(16):2221-6. Epub 2012 Aug 15.

11.

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.

Prodi E, Grisoli M, Panzeri M, Minati L, Fattori F, Erbetta A, Uziel G, D'Arrigo S, Tessa A, Ciano C, Santorelli FM, Savoiardo M, Mariotti C.

Eur J Neurol. 2013 Jan;20(1):138-46. doi: 10.1111/j.1468-1331.2012.03815.x. Epub 2012 Jul 21.

PMID:
22816526
12.

Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies.

Masciullo M, Modoni A, Tessa A, Santorelli FM, Rizzo V, D'Amico G, Laschena F, Tartaglione T, Silvestri G.

Eur J Neurol. 2012 Aug;19(8):e77-8. doi: 10.1111/j.1468-1331.2012.03752.x. No abstract available.

PMID:
22805644
13.

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.

Pyle A, Griffin H, Yu-Wai-Man P, Duff J, Eglon G, Pickering-Brown S, Santibanez-Korev M, Horvath R, Chinnery PF.

Arch Neurol. 2012 Oct;69(10):1351-4.

PMID:
22751902
14.

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Girard M, Larivière R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP, McPherson PS.

Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):1661-6. doi: 10.1073/pnas.1113166109. Epub 2012 Jan 17.

15.

Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Haga R, Miki Y, Funamizu Y, Kon T, Suzuki C, Ueno T, Nishijima H, Arai A, Tomiyama M, Shimazaki H, Takiyama Y, Baba M.

Clin Neurol Neurosurg. 2012 Jul;114(6):746-7. doi: 10.1016/j.clineuro.2011.12.019. Epub 2011 Dec 30. No abstract available.

PMID:
22209141
16.

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

Narayanan V, Rice SG, Olfers SS, Sivakumar K.

J Child Neurol. 2011 Dec;26(12):1585-9. doi: 10.1177/0883073811412825. Epub 2011 Jul 10.

PMID:
21745802
17.

Is the ataxia of Charlevoix-Saguenay a developmental disease?

Gazulla J, Vela AC, Marín MA, Pablo L, Santorelli FM, Benavente I, Modrego P, Tintoré M, Berciano J.

Med Hypotheses. 2011 Sep;77(3):347-52. doi: 10.1016/j.mehy.2011.05.011. Epub 2011 Jun 12.

PMID:
21665375
18.

Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Kozlov G, Denisov AY, Girard M, Dicaire MJ, Hamlin J, McPherson PS, Brais B, Gehring K.

J Biol Chem. 2011 Jun 10;286(23):20407-12. doi: 10.1074/jbc.M111.232884. Epub 2011 Apr 20.

19.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.

Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F.

Parkinsonism Relat Disord. 2011 Jul;17(6):418-22. doi: 10.1016/j.parkreldis.2011.03.005. Epub 2011 Mar 30. Review.

PMID:
21450511
20.

Computational analysis of a novel SACS gene mutation with BioExtract server.

Bouhlal Y, Jennewein DM, Anderson B, Reynoldson J, Maamouri W, Hentati F, Amouri R, Lushbough C.

J Mol Neurosci. 2011 May;44(1):53-8. doi: 10.1007/s12031-011-9512-8. Epub 2011 Mar 17.

PMID:
21416271
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