Literature DB >> 9199580

Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.

G Stevanin, A S Lebre, C Mathieux, G Cancel, N Abbas, O Didierjean, A Dürr, Y Trottier, Y Agid, A Brice.   

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Year:  1997        PMID： 9199580      PMCID： PMC1716136          DOI： 10.1016/S0002-9297(07)64251-7

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  21 in total

1.  The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q.

Authors:  G Stevanin; P S Sousa; G Cancel; A Dürr; O Dubourg; G A Nicholson; J Weissenbach; E Jardim; Y Agid; E Cassa
Journal:  Neurobiol Dis       Date:  1994-11       Impact factor: 5.996

2.  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.

Authors:  G Stevanin; G Cancel; O Didierjean; A Dürr; N Abbas; E Cassa; J Feingold; Y Agid; A Brice
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

Review 3.  Clinical features and classification of inherited ataxias.

Authors:  A E Harding
Journal:  Adv Neurol       Date:  1993

4.  De novo expansion of a (CAG)n repeat in sporadic Huntington's disease.

Authors:  R H Myers; M E MacDonald; W J Koroshetz; M P Duyao; C M Ambrose; S A Taylor; G Barnes; J Srinidhi; C S Lin; W L Whaley
Journal:  Nat Genet       Date:  1993-10       Impact factor: 38.330

5.  CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.

Authors:  Y Kawaguchi; T Okamoto; M Taniwaki; M Aizawa; M Inoue; S Katayama; H Kawakami; S Nakamura; M Nishimura; I Akiguchi
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

6.  Machado-Joseph (Azorean) disease in a Yemenite Jewish family in Israel.

Authors:  H Goldberg-Stern; R D'jaldetti; E Melamed; N Gadoth
Journal:  Neurology       Date:  1994-07       Impact factor: 9.910

7.  A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.

Authors:  G Stevanin; E Le Guern; N Ravisé; H Chneiweiss; A Dürr; G Cancel; A Vignal; A L Boch; M Ruberg; C Penet
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

8.  The gene for Machado-Joseph disease maps to human chromosome 14q.

Authors:  Y Takiyama; M Nishizawa; H Tanaka; S Kawashima; H Sakamoto; Y Karube; H Shimazaki; M Soutome; K Endo; S Ohta
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330

9.  DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence.

Authors:  F Squitieri; S E Andrew; Y P Goldberg; B Kremer; N Spence; J Zeisler; K Nichol; J Theilmann; J Greenberg; J Goto
Journal:  Hum Mol Genet       Date:  1994-12       Impact factor: 6.150

10.  Origin of the expansion mutation in myotonic dystrophy.

Authors:  G Imbert; C Kretz; K Johnson; J L Mandel
Journal:  Nat Genet       Date:  1993-05       Impact factor: 38.330
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  5 in total

1.  Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.

Authors:  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
Journal:  Am J Hum Genet       Date:  2000-12-20       Impact factor: 11.025

2.  High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia.

Authors:  Shi-Rui Gan; Sheng-Sheng Shi; Jian-Jun Wu; Ning Wang; Gui-Xian Zhao; Sheng-Tong Weng; Shen-Xing Murong; Chuan-Zhen Lu; Zhi-Ying Wu
Journal:  BMC Med Genet       Date:  2010-03-25       Impact factor: 2.103

3.  Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.

Authors:  Mercedes Prudencio; Hector Garcia-Moreno; Karen R Jansen-West; Rana Hanna Al-Shaikh; Tania F Gendron; Michael G Heckman; Matthew R Spiegel; Yari Carlomagno; Lillian M Daughrity; Yuping Song; Judith A Dunmore; Natalie Byron; Björn Oskarsson; Katharine A Nicholson; Nathan P Staff; Sorina Gorcenco; Andreas Puschmann; João Lemos; Cristina Januário; Mark S LeDoux; Joseph H Friedman; James Polke; Robin Labrum; Vikram Shakkottai; Hayley S McLoughlin; Henry L Paulson; Takuya Konno; Osamu Onodera; Takeshi Ikeuchi; Mari Tada; Akiyoshi Kakita; John D Fryer; Christin Karremo; Inês Gomes; John N Caviness; Mark R Pittelkow; Jan Aasly; Ronald F Pfeiffer; Venka Veerappan; Eric R Eggenberger; William D Freeman; Josephine F Huang; Ryan J Uitti; Klaas J Wierenga; Iris V Marin Collazo; Philip W Tipton; Jay A van Gerpen; Marka van Blitterswijk; Guojun Bu; Zbigniew K Wszolek; Paola Giunti; Leonard Petrucelli
Journal:  Sci Transl Med       Date:  2020-10-21       Impact factor: 17.956

Review 4.  Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.

Authors:  Shinsuke Fujioka; Christina Sundal; Zbigniew K Wszolek
Journal:  Orphanet J Rare Dis       Date:  2013-01-18       Impact factor: 4.123

5.  Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.

Authors:  Shi-Rui Gan; Wang Ni; Yi Dong; Ning Wang; Zhi-Ying Wu
Journal:  PLoS One       Date:  2015-08-12       Impact factor: 3.240
  5 in total

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