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Recessive ataxias.
Synofzik M, Németh AH. Synofzik M, et al. Handb Clin Neurol. 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. Handb Clin Neurol. 2018. PMID: 29891078 Review.
These include Friedreich ataxia, spastic paraplegia type 7-related ataxia, autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and spectrin repeat-containing nuclear envelope protein (SYNE)-related ataxia. In some restricted populations ARSACS or atax …
These include Friedreich ataxia, spastic paraplegia type 7-related ataxia, autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARS
Movement disorders in mitochondrial diseases.
Tranchant C, Anheim M. Tranchant C, et al. Rev Neurol (Paris). 2016 Aug-Sep;172(8-9):524-529. doi: 10.1016/j.neurol.2016.07.003. Epub 2016 Jul 28. Rev Neurol (Paris). 2016. PMID: 27476418 Review.
Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, in Kearns-Sayre syndrome due to mtDNA deletions, in sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) due to …
Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) l …
Spastic ataxias.
Bereznyakova O, Dupré N. Bereznyakova O, et al. Handb Clin Neurol. 2018;155:191-203. doi: 10.1016/B978-0-444-64189-2.00012-3. Handb Clin Neurol. 2018. PMID: 29891058 Review.
Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay.
Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J. Gagnon C, et al. Neurology. 2019 Oct 15;93(16):e1543-e1549. doi: 10.1212/WNL.0000000000008313. Epub 2019 Sep 18. Neurology. 2019. PMID: 31534027
Performance measures were administered to assess the construct validity of the final version of the DSI-ARSACS. RESULTS: The final DSI-ARSACS have 8 items that can be easily performed during usual medical follow-up. ...CONCLUSIONS: The DSI-ARSACS is a valid m …
Performance measures were administered to assess the construct validity of the final version of the DSI-ARSACS. RESULTS: The final DS …
Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.
Ady V, Toscano-Márquez B, Nath M, Chang PK, Hui J, Cook A, Charron F, Larivière R, Brais B, McKinney RA, Watt AJ. Ady V, et al. J Physiol. 2018 Sep;596(17):4253-4267. doi: 10.1113/JP275902. Epub 2018 Jul 19. J Physiol. 2018. PMID: 29928778 Free PMC article.
A knock-out mouse model has been developed that recapitulates several features of ARSACS. Using this ARSACS mouse model, we report changes in synaptic input and intrinsic firing in cerebellar Purkinje cells, as well as in their synaptic output in the deep cerebellar …
A knock-out mouse model has been developed that recapitulates several features of ARSACS. Using this ARSACS mouse model, we re …
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.
Rezende Filho FM, Parkinson MH, Pedroso JL, Poh R, Faber I, Lourenço CM, Júnior WM, França Junior MC, Kok F, Sallum JMF, Giunti P, Barsottini OGP. Rezende Filho FM, et al. Parkinsonism Relat Disord. 2019 May;62:148-155. doi: 10.1016/j.parkreldis.2018.12.024. Epub 2018 Dec 23. Parkinsonism Relat Disord. 2019. PMID: 30638817
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an important form of inherited ataxia with a varied clinical spectrum. ...CONCLUSION: Macular microcysts, inner retina dentate appearance and papillomacular fold are novel retinal imaging sig …
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an important form of inherited ataxia with a varied …
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. Vogel AP, et al. J Neurol. 2018 Sep;265(9):2060-2070. doi: 10.1007/s00415-018-8950-4. Epub 2018 Jul 2. J Neurol. 2018. PMID: 29968200
Dysarthria and dysphagia are anecdotally described as key features of ARSACS but the nature, severity and impact of these deficits in ARSACS are not known. ...CONCLUSIONS: The dysphagia and dysarthria profile of this ARSACS cohort reflects impaired coordinati …
Dysarthria and dysphagia are anecdotally described as key features of ARSACS but the nature, severity and impact of these deficits in …
Short Review: Investigating ARSACS: models for understanding cerebellar degeneration.
Artero Castro A, Machuca C, Rodriguez Jimenez FJ, Jendelova P, Erceg S. Artero Castro A, et al. Neuropathol Appl Neurobiol. 2019 Oct;45(6):531-537. doi: 10.1111/nan.12540. Epub 2019 Mar 11. Neuropathol Appl Neurobiol. 2019. PMID: 30636067 Review.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease that includes progressive cerebellar dysfunction. ARSACS is caused by an autosomal recessive loss-of-function mutation in the SACS gene, which encodes for …
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease that includes progress …
Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.
Gentil BJ, Lai GT, Menade M, Larivière R, Minotti S, Gehring K, Chapple JP, Brais B, Durham HD. Gentil BJ, et al. FASEB J. 2019 Feb;33(2):2982-2994. doi: 10.1096/fj.201801556R. Epub 2018 Oct 17. FASEB J. 2019. PMID: 30332300
Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics....
Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics....
ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.
Kuchay RAH, Mir YR, Zeng X, Hassan A, Musarrat J, Parwez I, Kernstock C, Traschütz A, Synofzik M. Kuchay RAH, et al. Cerebellum. 2019 Aug;18(4):807-812. doi: 10.1007/s12311-019-01028-2. Cerebellum. 2019. PMID: 30963395
In sum, our findings extend the geographical distribution of ARSACS to even very remote tribal regions in Asia (such as the Rajouri region of J&K, India) and extend the mutational and imaging spectrum of ARSACS. They provide further support that brain imaging an …
In sum, our findings extend the geographical distribution of ARSACS to even very remote tribal regions in Asia (such as the Rajouri r …
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