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Items: 1 to 20 of 148

1.

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.

Gregianin E, Vazza G, Scaramel E, Boaretto F, Vettori A, Leonardi E, Tosatto SC, Manara R, Pegoraro E, Mostacciuolo ML.

Eur J Neurol. 2013 Nov;20(11):1486-91. doi: 10.1111/ene.12220. Epub 2013 Jun 25.

PMID:
23800155
2.

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.

3.

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
4.

Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS.

Anesi L, de Gemmis P, Pandolfo M, Hladnik U.

J Mol Neurosci. 2011 Mar;43(3):346-9. doi: 10.1007/s12031-010-9448-4. Epub 2010 Sep 18.

PMID:
20852969
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.

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
7.

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.

Neurology. 2004 Jan 13;62(1):103-6.

PMID:
14718707
8.

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

Sánchez MG, Pérez JE, Pérez MR, Redondo AG.

J Neurol Sci. 2015 Nov 15;358(1-2):475-6. doi: 10.1016/j.jns.2015.08.032. Epub 2015 Aug 22. No abstract available.

PMID:
26344561
9.

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.

Blumkin L, Bradshaw T, Michelson M, Kopler T, Dahari D, Lerman-Sagie T, Lev D, Chapple JP, Leshinsky-Silver E.

Eur J Paediatr Neurol. 2015 Jul;19(4):472-6. doi: 10.1016/j.ejpn.2015.02.005. Epub 2015 Mar 3.

PMID:
25819952
10.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I.

Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14.

PMID:
26288984
11.

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.

12.

Sacsinopathies: sacsin-related ataxia.

Takiyama Y.

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

PMID:
17853117
13.

A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient.

Liu L, Li XB, Zi XH, Shen L, Hu ZhM, Huang ShX, Yu DL, Li HB, Xia K, Tang BS, Zhang RX.

J Neurol Sci. 2016 Mar 15;362:111-4. doi: 10.1016/j.jns.2016.01.026. Epub 2016 Jan 18.

PMID:
26944128
14.

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Larivière R, Gaudet R, Gentil BJ, Girard M, Conte TC, Minotti S, Leclerc-Desaulniers K, Gehring K, McKinney RA, Shoubridge EA, McPherson PS, Durham HD, Brais B.

Hum Mol Genet. 2015 Feb 1;24(3):727-39. doi: 10.1093/hmg/ddu491. Epub 2014 Sep 26.

15.

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.

16.

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
17.

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B.

Neurogenetics. 2008 Jul;9(3):207-14. doi: 10.1007/s10048-008-0131-7. Epub 2008 May 9. Erratum in: Neurogenetics. 2009 Feb;10(1):87.

18.

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
19.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.

Kamada S, Okawa S, Imota T, Sugawara M, Toyoshima I.

J Neurol. 2008 Jun;255(6):803-6. doi: 10.1007/s00415-008-0672-6. Epub 2008 May 19.

PMID:
18484239
20.

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

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