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Items: 17

Select item 79654241.

Assessment of Whole-Brain White Matter by DTI in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

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

AJNR Am J Neuroradiol. 2013 Oct; 34(10): 1952–1957. doi: 10.3174/ajnr.A3488

PMCID:: PMC7965424

Abstract Article PDF–1.8M

Select item 74972892.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 64168583.

Sacs R272C missense homozygous mice develop an ataxia phenotype

Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, Rébecca Gaudet, Karine Choquet, R. Anne McKinney, Alanna J. Watt, Bernard Brais

Mol Brain. 2019; 12: 19. Published online 2019 Mar 12. doi: 10.1186/s13041-019-0438-3

PMCID:: PMC6416858

Abstract Article PDF–20M

Select item 62879144.

Overcoming the Divide Between Ataxias and Spastic Paraplegias: Shared Phenotypes, Genes, and Pathways

Matthis Synofzik, Rebecca Schüle

Mov Disord. Author manuscript; available in PMC 2018 Dec 10.

Published in final edited form as: Mov Disord. 2017 Mar; 32(3): 332–345. Published online 2017 Feb 14. doi: 10.1002/mds.26944

PMCID:: PMC6287914

Abstract Article PDF–601K

Select item 62493185.

A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American

Sean C. Dougherty, Amy Harper, Hind Al Saif, Gregory Vorona, Scott R. Haines

Front Neurol. 2018; 9: 956. Published online 2018 Nov 15. doi: 10.3389/fneur.2018.00956

PMCID:: PMC6249318

Abstract Article PDF–1.6M

Select item 61175486.

Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS

Visou Ady, Brenda Toscano‐Márquez, Moushumi Nath, Philip K. Chang, Jeanette Hui, Anna Cook, François Charron, Roxanne Larivière, Bernard Brais, R. Anne McKinney, Alanna J. Watt

J Physiol. 2018 Sep 1; 596(17): 4253–4267. Published online 2018 Jul 19. doi: 10.1113/JP275902

Correction in:: J Physiol. 2019 Jul; 597(13): 3503.

PMCID:: PMC6117548

Abstract Article PDF–1.5M

Select item 58862477.

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

Emma J. Duncan, Roxanne Larivière, Teisha Y. Bradshaw, Fabiana Longo, Nicolas Sgarioto, Matthew J. Hayes, Lisa E.L. Romano, Suran Nethisinghe, Paola Giunti, Michaela B. Bruntraeger, Heather D. Durham, Bernard Brais, Francesca Maltecca, Benoit J. Gentil, J. Paul Chapple

Hum Mol Genet. 2017 Aug 15; 26(16): 3130–3143. Published online 2017 May 23. doi: 10.1093/hmg/ddx197

PMCID:: PMC5886247

Abstract Article PDF–2.2M

Select item 49364768.

Progressive myoclonus epilepsy associated with SACS gene mutations

Fábio A. Nascimento, Laura Canafoglia, Danah Aljaafari, Mikko Muona, Anna-Elina Lehesjoki, Samuel F. Berkovic, Silvana Franceschetti, Danielle M. Andrade

Neurol Genet. 2016 Aug; 2(4): e83. Published online 2016 Jun 23. doi: 10.1212/NXG.0000000000000083

PMCID:: PMC4936476

Article PDF–398K

Select item 42912499.

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

Roxanne Larivière, Rébecca Gaudet, Benoit J. Gentil, Martine Girard, Talita Cristiane Conte, Sandra Minotti, Kim Leclerc-Desaulniers, Kalle Gehring, R. Anne McKinney, Eric A. Shoubridge, Peter S. McPherson, Heather D. Durham, Bernard Brais

Hum Mol Genet. 2015 Feb 1; 24(3): 727–739. Published online 2014 Sep 26. doi: 10.1093/hmg/ddu491

PMCID:: PMC4291249

Abstract Article PDF–1.9M

Select item 403849610.

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridisation

Angela Pyle, Helen Griffin, Jennifer Duff, Simon Zwolinski, Tania Smertenko, Patrick Yu-Wai-Man, Mauro Santibanez-Koref, Rita Horvath, Patrick F. Chinnery

J Neurogenet. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: J Neurogenet. 2013 Dec; 27(4): 176–182. Published online 2013 Nov 4. doi: 10.3109/01677063.2013.831094

PMCID:: PMC4038496

Abstract Article PDF–1.1M

Select item 361026411.

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

Matthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, Julia Schicks, Kathrin N Karle, Rebecca Schüle, Tobias B Haack, Martin Schöning, Saskia Biskup, Sabine Rudnik-Schöneborn, Jan Senderek, Karl-Titus Hoffmann, Patrick MacLeod, Johannes Schwarz, Benjamin Bender, Stefan Krüger, Friedmar Kreuz, Peter Bauer, Ludger Schöls

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

PMCID:: PMC3610264

Abstract Article PDF–1.1M

Select item 327716812.

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

Martine Girard, Roxanne Larivière, David A. Parfitt, Emily C. Deane, Rebecca Gaudet, Nadya Nossova, Francois Blondeau, George Prenosil, Esmeralda G. M. Vermeulen, Michael R. Duchen, Andrea Richter, Eric A. Shoubridge, Kalle Gehring, R. Anne McKinney, Bernard Brais, J. Paul Chapple, Peter S. McPherson

Proc Natl Acad Sci U S A. 2012 Jan 31; 109(5): 1661–1666. Published online 2012 Jan 17. doi: 10.1073/pnas.1113166109

PMCID:: PMC3277168

Abstract Article PDF–855K

Select item 314472913.

Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients

Luis E Pablo, Elena Garcia-Martin, Jose Gazulla, Jose M Larrosa, Antonio Ferreras, Filippo M Santorelli, Isabel Benavente, Ana Vela, Miguel A Marin

Mol Vis. 2011; 17: 1871–1876. Published online 2011 Jul 13.

PMCID:: PMC3144729

Abstract Article PDF–596K

Select item 312148114.

Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

Guennadi Kozlov, Alexey Y. Denisov, Martine Girard, Marie-Josée Dicaire, Jason Hamlin, Peter S. McPherson, Bernard Brais, Kalle Gehring

J Biol Chem. 2011 Jun 10; 286(23): 20407–20412. Published online 2011 Apr 20. doi: 10.1074/jbc.M111.232884

PMCID:: PMC3121481

Abstract Article PDF–1.2M

Select item 266728515.

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

David A. Parfitt, Gregory J. Michael, Esmeralda G.M. Vermeulen, Natalia V. Prodromou, Tom R. Webb, Jean-Marc Gallo, Michael E. Cheetham, William S. Nicoll, Gregory L. Blatch, J. Paul Chapple

Hum Mol Genet. 2009 May 1; 18(9): 1556–1565. Published online 2009 Feb 10. doi: 10.1093/hmg/ddp067

PMCID:: PMC2667285

Abstract Article PDF–441K

Select item 244158616.

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

Sascha Vermeer, Rowdy P. P. Meijer, Benjamin J. Pijl, Janneke Timmermans, Johannes R. M. Cruysberg, Maaike M. Bos, Helenius J. Schelhaas, Bart. P. C. van de Warrenburg, Nine V. A. M. Knoers, Hans Scheffer, Berry Kremer

Neurogenetics. 2008; 9(3): 207–214. Published online 2008 Jul 1. doi: 10.1007/s10048-008-0131-7