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Items: 1 to 20 of 66

1.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

Vill K, Müller-Felber W, Gläser D, Kuhn M, Teusch V, Schreiber H, Weis J, Klepper J, Schirmacher A, Blaschek A, Wiessner M, Strom TM, Dräger B, Hofmeister-Kiltz K, Tacke M, Gerstl L, Young P, Horvath R, Senderek J.

Hum Genet. 2018 Dec;137(11-12):911-919. doi: 10.1007/s00439-018-1952-6. Epub 2018 Nov 21.

PMID:
30460542
2.

Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Vogel AP, Rommel N, Oettinger A, Stoll LH, Kraus EM, Gagnon C, Horger M, Krumm P, Timmann D, Storey E, Schöls L, Synofzik M.

J Neurol. 2018 Sep;265(9):2060-2070. doi: 10.1007/s00415-018-8950-4. Epub 2018 Jul 2.

PMID:
29968200
3.

Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations.

Ménade M, Kozlov G, Trempe JF, Pande H, Shenker S, Wickremasinghe S, Li X, Hojjat H, Dicaire MJ, Brais B, McPherson PS, Wong MJH, Young JC, Gehring K.

J Biol Chem. 2018 Aug 17;293(33):12832-12842. doi: 10.1074/jbc.RA118.003939. Epub 2018 Jun 26.

PMID:
29945973
4.

Recessive ataxias.

Synofzik M, Németh AH.

Handb Clin Neurol. 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. Review.

PMID:
29891078
5.

Spastic ataxias.

Bereznyakova O, Dupré N.

Handb Clin Neurol. 2018;155:191-203. doi: 10.1016/B978-0-444-64189-2.00012-3. Review.

PMID:
29891058
6.

Teaching Video NeuroImages: Spastic ataxia syndrome: The Friedreich-like phenotype of ARSACS.

Saffie P, Kauffman MA, Fernandez JM, Acosta I, Espay AJ, de la Cerda A.

Neurology. 2017 Oct 3;89(14):e178-e179. doi: 10.1212/WNL.0000000000004556. No abstract available.

PMID:
28972115
7.

Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study.

Bui HT, Audet O, Mathieu J, Gagnon C, Leone M.

J Neurol Sci. 2017 Sep 15;380:68-73. doi: 10.1016/j.jns.2017.07.013. Epub 2017 Jul 9.

PMID:
28870592
8.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.

Krygier M, Konkel A, Schinwelski M, Rydzanicz M, Walczak A, Sildatke-Bauer M, Płoski R, Sławek J.

Neurol Neurochir Pol. 2017 Nov - Dec;51(6):481-485. doi: 10.1016/j.pjnns.2017.08.003. Epub 2017 Aug 17.

PMID:
28843771
9.

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
10.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.

Burguêz D, Oliveira CM, Rockenbach MABC, Fussiger H, Vedolin LM, Winckler PB, Maestri MK, Finkelsztejn A, Santorelli FM, Jardim LB, Saute JAM.

Arq Neuropsiquiatr. 2017 Jun;75(6):339-344. doi: 10.1590/0004-282X20170044.

11.

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.

Duncan EJ, Larivière R, Bradshaw TY, Longo F, Sgarioto N, Hayes MJ, Romano LEL, Nethisinghe S, Giunti P, Bruntraeger MB, Durham HD, Brais B, Maltecca F, Gentil BJ, Chapple JP.

Hum Mol Genet. 2017 Aug 15;26(16):3130-3143. doi: 10.1093/hmg/ddx197.

12.

Validity and reliability of the LEMOCOT in the adult ARSACS population: A measure of lower limb coordination.

Lessard I, Lavoie C, Côté I, Mathieu J, Brais B, Gagnon C.

J Neurol Sci. 2017 Jun 15;377:193-196. doi: 10.1016/j.jns.2017.03.046. Epub 2017 Mar 29.

PMID:
28477695
13.

Clinical assessment of dysphagia in neurodegeneration (CADN): development, validity and reliability of a bedside tool for dysphagia assessment.

Vogel AP, Rommel N, Sauer C, Horger M, Krumm P, Himmelbach M, Synofzik M.

J Neurol. 2017 Jun;264(6):1107-1117. doi: 10.1007/s00415-017-8499-7. Epub 2017 May 3.

PMID:
28470593
14.

Measurement properties of a new wireless electrogoniometer for quantifying spasticity during the pendulum test in ARSACS patients.

Bui HT, Gagnon C, Audet O, Mathieu J, Leone M.

J Neurol Sci. 2017 Apr 15;375:181-185. doi: 10.1016/j.jns.2017.01.065. Epub 2017 Jan 25.

PMID:
28320127
15.

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

Ali Z, Klar J, Jameel M, Khan K, Fatima A, Raininko R, Baig S, Dahl N.

J Neurol Sci. 2016 Dec 15;371:105-111. doi: 10.1016/j.jns.2016.10.032. Epub 2016 Oct 21.

PMID:
27871429
16.

Retinal nerve fiber layer thickening in ARSACS carriers.

van Lint M, Hoornaert K, Ten Tusscher MPM.

J Neurol Sci. 2016 Nov 15;370:119-122. doi: 10.1016/j.jns.2016.09.023. Epub 2016 Sep 14.

PMID:
27772739
17.

Movement disorders in mitochondrial diseases.

Tranchant C, Anheim M.

Rev Neurol (Paris). 2016 Aug - Sep;172(8-9):524-529. doi: 10.1016/j.neurol.2016.07.003. Epub 2016 Jul 28. Review.

PMID:
27476418
18.

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.

Bradshaw TY, Romano LE, Duncan EJ, Nethisinghe S, Abeti R, Michael GJ, Giunti P, Vermeer S, Chapple JP.

Hum Mol Genet. 2016 Aug 1;25(15):3232-3244. doi: 10.1093/hmg/ddw173. Epub 2016 Jun 10.

19.

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
20.

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

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