PMC Links for OMIM (Select 109150) - PMC

Select item 47314171.

Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease

Andreia Teixeira-Castro, Ana Jalles, Sofia Esteves, Soosung Kang, Liliana da Silva Santos, Anabela Silva-Fernandes, Mário F. Neto, Renée M. Brielmann, Carlos Bessa, Sara Duarte-Silva, Adriana Miranda, Stéphanie Oliveira, Andreia Neves-Carvalho, João Bessa, Teresa Summavielle, Richard B. Silverman, Pedro Oliveira, Richard I. Morimoto, Patrícia Maciel

Brain. 2015 Nov; 138(11): 3221–3237. Published online 2015 Sep 15. doi: 10.1093/brain/awv262

PMCID:: PMC4731417

Abstract Article PDF–2.8M

Select item 28521862.

RNA Mediated Neurodegeneration in Repeat Expansion Disorders

Peter K Todd, Henry L Paulson

Ann Neurol. Author manuscript; available in PMC 2011 Mar 1.

Published in final edited form as: Ann Neurol. 2010 Mar; 67(3): 291–300. doi: 10.1002/ana.21948

PMCID:: PMC2852186

Abstract Article PDF–954K

Select item 27968893.

Proteotoxic stress increases nuclear localization of ataxin-3

Christopher P. Reina, Xiaoyan Zhong, Randall N. Pittman

Hum Mol Genet. 2010 Jan 15; 19(2): 235–249. Published online 2009 Oct 19. doi: 10.1093/hmg/ddp482

PMCID:: PMC2796889

Abstract Article PDF–590K

Select item 19182074.

Machado-Joseph Disease in Pedigrees of Azorean descent is Linked to Chromosome 14

P. St George-Hyslop, E. Rogaeva, J. Huterer, T. Tsuda, J. Santos, J. L. Haines, K. Schlumpf, E. I. Rogaev, Y. Liang, D. R. Crapper McLachlan, J. Kennedy, J. Weissenbach, G. D. Billingsley, D. W. Cox, A. E. Lang, J. R. Wherrett

Am J Hum Genet. 1994 Jul; 55(1): 120–125.

PMCID:: PMC1918207

Summary Page Browse PDF–911K

Select item 19180625.

A Third Locus for Autosomal Dominant Cerebellar Ataxia Type 1 Maps to Chromosome 14q24.3-qter: Evidence for the Existence of a Fourth Locus

Giovanni Stevanin, Eric Le Guern, Nicole Ravisé, Hervé Chneiweiss, Alexandra Dürr, Géraldine Cancel, Alain Vignal, Anne-Laure Boch, Merle Ruberg, Christiane Penet, Yolaine Pothin, Isabelle Lagroua, Michel Haguenau, Gérald Rancurel, Jean Weissenbach, Yves Agid, Alexis Brice

Am J Hum Genet. 1994 Jan; 54(1): 11–20.

PMCID:: PMC1918062

Summary Page Browse PDF–1.2M

Select item 19146736.

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

Summary Page Browse PDF–728K

Select item 18015027.

Marked Phenotypic Heterogeneity Associated with Expansion of a CAG Repeat Sequence at the Spinocerebellar Ataxia 3/Machado-Joseph Disease Locus

Géraldine Cancel, Nacer Abbas, Giovanni Stevanin, Alexandra Dürr, Hervé Chneiweiss, Christian Néri, Charles Duyckaerts, Christiane Penet, Howard M. Cann, Yves Agid, Alexis Brice

Am J Hum Genet. 1995 Oct; 57(4): 809–816.

PMCID:: PMC1801502

Summary Page Browse PDF–1.5M

Select item 18013828.

Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.

G Stevanin, G Cancel, O Didierjean, A Dürr, N Abbas, E Cassa, J Feingold, Y Agid, A Brice

Am J Hum Genet. 1995 Nov; 57(5): 1247–1250.

PMCID:: PMC1801382

Summary Page Browse PDF–726K

Select item 18013169.

The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.

G Stevanin, G Cancel, A Dürr, H Chneiweiss, O Dubourg, J Weissenbach, H M Cann, Y Agid, A Brice

Am J Hum Genet. 1995 Jan; 56(1): 193–201.

PMCID:: PMC1801316

Summary Page Browse PDF–1.1M

Select item 180126310.

Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.

L P Ranum, J K Lundgren, L J Schut, M J Ahrens, S Perlman, J Aita, T D Bird, C Gomez, H T Orr

Am J Hum Genet. 1995 Sep; 57(3): 603–608.

PMCID:: PMC1801263

Summary Page Browse PDF–1.1M

Select item 137749911.

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.

H Takano, G Cancel, T Ikeuchi, D Lorenzetti, R Mawad, G Stevanin, O Didierjean, A Dürr, M Oyake, T Shimohata, R Sasaki, R Koide, S Igarashi, S Hayashi, Y Takiyama, M Nishizawa, H Tanaka, H Zoghbi, A Brice, S Tsuji

Am J Hum Genet. 1998 Oct; 63(4): 1060–1066. doi: 10.1086/302067

PMCID:: PMC1377499

Abstract

Select item 123528612.

Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

C. Gaspar, I. Lopes-Cendes, S. Hayes, J. Goto, K. Arvidsson, A. Dias, I. Silveira, P. Maciel, P. Coutinho, M. Lima, Y.-X. Zhou, B.-W. Soong, M. Watanabe, P. Giunti, G. Stevanin, O. Riess, H. Sasaki, M. Hsieh, G. A. Nicholson, E. Brunt, J. J. Higgins, M. Lauritzen, L. Tranebjaerg, V. Volpini, N. Wood, L. Ranum, S. Tsuji, A. Brice, J. Sequeiros, G. A. Rouleau

Am J Hum Genet. 2001 Feb; 68(2): 523–528. Published online 2000 Dec 20. doi: 10.1086/318184

PMCID:: PMC1235286

Abstract Article PDF–169K

Select item 105089913.

Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats.

D C Rubinsztein, J Leggo

J Med Genet. 1997 Mar; 34(3): 234–236. doi: 10.1136/jmg.34.3.234

PMCID:: PMC1050899

Summary Page Browse PDF–428K

Select item 105017414.

Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.

E C Twist, L K Casaubon, M H Ruttledge, V S Rao, P M Macleod, J Radvany, Z Zhao, R N Rosenberg, L A Farrer, G A Rouleau

J Med Genet. 1995 Jan; 32(1): 25–31. doi: 10.1136/jmg.32.1.25

PMCID:: PMC1050174

Summary Page Browse PDF–1.0M

Select item 48608915.

Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany.

L Schöls, G Amoiridis, M Langkafel, T Büttner, H Przuntek, O Riess, A M Vieira-Saecker, J T Epplen

J Neurol Neurosurg Psychiatry. 1995 Oct; 59(4): 449–450. doi: 10.1136/jnnp.59.4.449

PMCID:: PMC486089

Summary Page Browse PDF–537K

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