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Items: 9

1.
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration
Kari J. Ekenstedt, Katie M. Minor, G. Diane Shelton, James J. Hammond, Andrew D. Miller, Susan M. Taylor, Yanyun Huang, James R. Mickelson
Hum Genet. 2023; 142(11): 1587–1601. Published online 2023 Sep 27. doi: 10.1007/s00439-023-02599-1
PMCID:
PMC10602964
AbstractArticlePDF–3.5M
2.
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
Christelle M. Durand, Chloé Angelini, Vincent Michaud, Claire Delleci, Isabelle Coupry, Cyril Goizet, Aurelien Trimouille
BMC Neurol. 2022; 22: 53. Published online 2022 Feb 12. doi: 10.1186/s12883-022-02553-0
PMCID:
PMC8840315
AbstractArticlePDF–1.2M
3.
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
AbstractArticlePDF–2.2M
4.
The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families
Behzad Davarniya, Hao Hu, Kimia Kahrizi, Luciana Musante, Zohreh Fattahi, Masoumeh Hosseini, Fariba Maqsoud, Reza Farajollahi, Thomas F. Wienker, H. Hilger Ropers, Hossein Najmabadi
PLoS One. 2015; 10(8): e0129631. Published online 2015 Aug 26. doi: 10.1371/journal.pone.0129631
PMCID:
PMC4550366
AbstractArticlePDF–4.4M
5.
A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds
Cecilia Rohdin, Douglas Gilliam, Caroline A. O’Leary, Dennis P. O’Brien, Joan R. Coates, Gary S. Johnson, Karin Hultin Jäderlund
Acta Vet Scand. 2015; 57(1): 26. Published online 2015 May 23. doi: 10.1186/s13028-015-0115-1
PMCID:
PMC4445810
AbstractArticlePDF–323K
6.
Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1
Oliver P. Forman, Luisa De Risio, Kaspar Matiasek, Simon Platt, Cathryn Mellersh
Mamm Genome. 2015; 26(1): 108–117. Published online 2014 Oct 30. doi: 10.1007/s00335-014-9547-6
PMCID:
PMC4305091
AbstractArticlePDF–2.6M
7.
Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia
A. Deik, B. Johannes, J. C. Rucker, E. Sánchez, S. E. Brodie, E. Deegan, K. Landy, Y. Kajiwara, S. Scelsa, R. Saunders-Pullman, C. Paisán-Ruiz
J Neurol. Author manuscript; available in PMC 2015 Dec 1.
Published in final edited form as: J Neurol. 2014 Dec; 261(12): 2411–2423. Published online 2014 Sep 30. doi: 10.1007/s00415-014-7516-3
PMCID:
PMC4245359
AbstractArticlePDF–1.1M
8.
Orthopedic management in autosomal recessive spastic ataxia of Charlevoix-Saguenay
Marc Bouchard, Gaëtan Langlois
Can J Surg. 1999 Dec; 42(6): 440–444.
PMCID:
PMC3795136
SummaryPDF–1.8M
9.
Loss of p21 increases sensitivity to ionizing radiation and delays the onset of lymphoma in atm-deficient mice
Y. Alan Wang, Ari Elson, Philip Leder
Proc Natl Acad Sci U S A. 1997 Dec 23; 94(26): 14590–14595. doi: 10.1073/pnas.94.26.14590
PMCID:
PMC25064
AbstractArticlePDF–330K

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