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Items: 1 to 20 of 192

1.

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
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.

A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Zeng H, Tang JG, Yang YF, Tan ZP, Tan JQ.

Cytogenet Genome Res. 2017;152(1):16-21. doi: 10.1159/000477428. Epub 2017 Jun 29.

PMID:
28658676
4.

Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.

Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N.

Intern Med. 2013;52(14):1629-33. Epub 2013 Jul 15.

5.

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
6.

Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

Chen Z, Wang JL, Tang BS, Sun ZF, Shi YT, Shen L, Lei LF, Wei XM, Xiao JJ, Hu ZM, Pan Q, Xia K, Zhang QY, Dai MZ, Liu Y, Ashizawa T, Jiang H.

Neurobiol Aging. 2013 Oct;34(10):2442.e11-7. doi: 10.1016/j.neurobiolaging.2013.04.029. Epub 2013 May 30.

PMID:
23726790
7.

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
8.

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.

9.

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
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.

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
12.

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.

13.

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
14.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family.

Pedroso JL, Braga-Neto P, Abrahão A, Rivero RL, Abdalla C, Abdala N, Barsottini OG.

Arq Neuropsiquiatr. 2011;69(2B):288-91.

15.

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.

Duquette A, Brais B, Bouchard JP, Mathieu J.

Mov Disord. 2013 Dec;28(14):2011-4. doi: 10.1002/mds.25604. Epub 2013 Aug 2.

PMID:
23913799
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.

Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.

Verhoeven WM, Egger JI, Ahmed AI, Kremer BP, Vermeer S, van de Warrenburg BP.

Psychopathology. 2012;45(3):193-9. doi: 10.1159/000331319. Epub 2012 Mar 22.

PMID:
22441213
18.

Retinal and pontine striations: neurodiagnostic signs of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Leavitt JA, Singer W, Brown WL, Pulido JS, Brodsky MC.

J Neuroophthalmol. 2014 Dec;34(4):369-71. doi: 10.1097/WNO.0000000000000174.

PMID:
25237835
19.

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
20.

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

Armour CM, Smith A, Hartley T, Chardon JW, Sawyer S, Schwartzentruber J, Hennekam R, Majewski J, Bulman DE; FORGE Canada Consortium, Suri M, Boycott KM.

Am J Med Genet A. 2016 Jul;170(7):1820-5. doi: 10.1002/ajmg.a.37684. Epub 2016 May 2.

PMID:
27133561

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