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Items: 1 to 20 of 4823

1.
Case report: Corneal endothelial degeneration and optic atrophy in dentatorubral-pallidoluysian atrophy quantified by specular micrography and optical coherence tomography
Shunya Takizawa, Hiroto Mitamura, Yuko Ohnuki, Kenji Kawai, Yoichi Ohnuki, Eiichiro Nagata, Wakoh Takahashi
Front Neurol. 2022; 13: 953787. Published online 2022 Sep 13. doi: 10.3389/fneur.2022.953787
PMCID:
PMC9513026
ArticlePDF–1.4M
2.
MR of childhood-onset dentatorubral-pallidoluysian atrophy.
M Miyazaki, T Kato, T Hashimoto, M Harada, I Kondo, Y Kuroda
AJNR Am J Neuroradiol. 1995 Oct; 16(9): 1834-6.
PMCID:
PMC8338218
SummaryPDF–214K
3.
Huntington's Disease and Dentatorubral‐Pallidoluysian Atrophy: Proteins, Pathogenesis and Pathology
Christopher A. Ross, Mark W. Becher, Veronica Colomer, Simone Engelender, Jon D. Wood, Alan H. Sham
Brain Pathol. 1997 Jul; 7(3): 1003–1016. Published online 2008 Jan 28. doi: 10.1111/j.1750-3639.1997.tb00898.x
PMCID:
PMC8098431
SummaryPDF–1.7M
4.
Global and Region-Specific Analyses of Apparent Diffusion Coefficient in Dentatorubral-Pallidoluysian Atrophy
T. Kin, M. Hirano, T. Taoka, Y. Furiya, H. Kataoka, K. Kichikawa, S. Ueno
AJNR Am J Neuroradiol. 2006 Aug; 27(7): 1463–1466.
PMCID:
PMC7977539
ArticlePDF–161K
5.
Radiologic and Neuropathologic Findings in Patients in a Family with Dentatorubral-Pallidoluysian Atrophy
Y. Sunami, R. Koide, N. Arai, M. Yamada, T. Mizutani, K. Oyanagi
AJNR Am J Neuroradiol. 2011 Jan; 32(1): 109–114. doi: 10.3174/ajnr.A2252
PMCID:
PMC7964965
ArticlePDF–4.2M
6.
Successful treatment of psychosis in dentatorubral‐pallidoluysian atrophy with quetiapine: A case report
Zui Narita, Tomiki Sumiyoshi
Neuropsychopharmacol Rep. 2018 Mar; 38(1): 44–46. Published online 2018 Feb 5. doi: 10.1002/npr2.12005
PMCID:
PMC7292318
ArticlePDF–99K
7.
Dentatorubral-pallidoluysian Atrophy: An Update
Liam S. Carroll, Thomas H. Massey, Mark Wardle, Kathryn J. Peall
Tremor Other Hyperkinet Mov (N Y) 2018; 8: 577. Published online 2018 Oct 1. doi: 10.7916/D81N9HST
PMCID:
PMC6222020
ArticlePDF–1.8M
8.
Successful Treatment with Olanzapine of Psychosis in Dentatorubral-pallidoluysian Atrophy: A Case Report
Zui Narita, Tomiki Sumiyoshi
Clin Psychopharmacol Neurosci. 2018 May; 16(2): 221–223. Published online 2018 May 31. doi: 10.9758/cpn.2018.16.2.221
PMCID:
PMC5953024
ArticlePDF–157K
9.
Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)
Hideaki Shiraishi, Kiyoshi Egawa, Tomoshiro Ito, Osamu Kawano, Naoko Asahina, Shinobu Kohsaka
Epilepsy Behav Case Rep. 2017; 8: 44–46. Published online 2017 May 26. doi: 10.1016/j.ebcr.2017.05.004
PMCID:
PMC5565628
ArticlePDF–1.7M
10.
Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability.
H. Takano, O. Onodera, H. Takahashi, S. Igarashi, M. Yamada, M. Oyake, T. Ikeuchi, R. Koide, H. Tanaka, K. Iwabuchi, S. Tsuji
Am J Hum Genet. 1996 Jun; 58(6): 1212–1222.
PMCID:
PMC1915058
SummaryPage BrowsePDF–2.3M
11.
Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis.
T. Ikeuchi, S. Igarashi, Y. Takiyama, O. Onodera, M. Oyake, H. Takano, R. Koide, H. Tanaka, S. Tsuji
Am J Hum Genet. 1996 Apr; 58(4): 730–733.
PMCID:
PMC1914673
SummaryPage BrowsePDF–728K
12.
Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS.
O Onodera, M Oyake, H Takano, T Ikeuchi, S Igarashi, S Tsuji
Am J Hum Genet. 1995 Nov; 57(5): 1050–1060.
PMCID:
PMC1801383
SummaryPage BrowsePDF–2.3M
13.
Molecular pathology of dentatorubral-pallidoluysian atrophy.
I Kanazawa
Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29; 354(1386): 1069–1074. doi: 10.1098/rstb.1999.0460
PMCID:
PMC1692599
SummaryPDF–171K
14.
Aberrant phosphorylation of dentatorubral-pallidoluysian atrophy (DRPLA) protein complex in brain tissue.
I Yazawa
Biochem J. 2000 Nov 1; 351(Pt 3): 587–593.
PMCID:
PMC1221397
SummaryPDF–167K
15.
The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing.
N T Potter
J Med Genet. 1996 Feb; 33(2): 168–170. doi: 10.1136/jmg.33.2.168
PMCID:
PMC1051847
SummaryPage BrowsePDF–564K
16.
Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene.
A Kuwano, F Takakubo, Y Morimoto, E Uyama, M Uchino, M Ando, T Yasuda, A Terao, T Hayama, R Kobayashi, I Kondo
J Med Genet. 1996 Jan; 33(1): 80–81. doi: 10.1136/jmg.33.1.80
PMCID:
PMC1051819
SummaryPage BrowsePDF–389K
17.
Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.
J Leggo, A Dalton, P J Morrison, A Dodge, M Connarty, M J Kotze, D C Rubinsztein
J Med Genet. 1997 Dec; 34(12): 982–985. doi: 10.1136/jmg.34.12.982
PMCID:
PMC1051147
SummaryPage BrowsePDF–771K
18.
Olaparib Addition to Maintenance Bevacizumab Therapy in Ovarian Carcinoma With BRCA-Like Genomic Aberrations
Philip C. Schouten, Sandra Schmidt, Kerstin Becker, Holger Thiele, Peter Nürnberg, Lisa Richters, Corinna Ernst, Isabelle Treilleux, Jacques Medioni, Florian Heitz, Carmela Pisano, Yolanda Garcia, Edgar Petru, Sakari Hietanen, Nicoletta Colombo, Ignace Vergote, Shoji Nagao, Sabine C. Linn, Eric Pujade-Lauraine, Isabelle Ray-Coquard, Philipp Harter, Eric Hahnen, Rita K. Schmutzler
JAMA Netw Open. 2024 Apr; 7(4): e245552. Published online 2024 Apr 9. doi: 10.1001/jamanetworkopen.2024.5552
PMCID:
PMC11004830
Article
19.
Pan-cancer analysis reveals IL32 is a potential prognostic and immunotherapeutic biomarker in cancer
Feng Han, Jianxin Ma
Sci Rep. 2024; 14: 8129. Published online 2024 Apr 7. doi: 10.1038/s41598-024-58550-5
PMCID:
PMC10999427
ArticlePDF–3.4M
20.
Leptin signalling regulates transcriptional differences in granulosa cells from genetically obese mice but not the activation of NLRP3 inflammasome
Marek Adamowski, Yashaswi Sharma, Tomasz Molcan, Karolina Wołodko, Gavin Kelsey, António M. Galvão
Sci Rep. 2024; 14: 8070. Published online 2024 Apr 5. doi: 10.1038/s41598-024-58181-w
PMCID:
PMC10997671
ArticlePDF–6.7M

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