Literature DB >> 7485178

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.   

Abstract

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Year:  1995        PMID： 7485178      PMCID： PMC1801382     

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


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  25 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

Review 2.  Clinical features and classification of inherited ataxias.

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

3.  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

4.  Population studies of the fragile X: a molecular approach.

Authors:  P A Jacobs; H Bullman; J Macpherson; S Youings; V Rooney; A Watson; N R Dennis
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

5.  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

6.  A complex mutable polymorphism located within the fragile X gene.

Authors:  N Zhong; C Dobkin; W T Brown
Journal:  Nat Genet       Date:  1993-11       Impact factor: 38.330

7.  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

Review 8.  The Huntington's disease candidate region exhibits many different haplotypes.

Authors:  M E MacDonald; A Novelletto; C Lin; D Tagle; G Barnes; G Bates; S Taylor; B Allitto; M Altherr; R Myers
Journal:  Nat Genet       Date:  1992-05       Impact factor: 38.330

9.  Significant linkage disequilibrium between the Huntington's disease locus and markers at loci D4S10, D4S95, and D4S111 in Northern Ireland.

Authors:  P J Morrison; C A Graham; N C Nevin
Journal:  J Med Genet       Date:  1993-12       Impact factor: 6.318

10.  The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci.

Authors:  C Jodice; M Frontali; F Persichetti; A Novelletto; M Pandolfo; M Spadaro; P Giunti; G Schinaia; P Lulli; P Malaspina
Journal:  Hum Mol Genet       Date:  1993-09       Impact factor: 6.150
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  13 in total

1.  Different origins of mutations at the Machado-Joseph locus (MJD1)

Authors:  P Iughetti; M Zatz; M R Bueno; S K Marie
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

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

Authors:  G Stevanin; A S Lebre; C Mathieux; G Cancel; N Abbas; O Didierjean; A Dürr; Y Trottier; Y Agid; A Brice
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

3.  The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.

Authors:  D H Geschwind; S Perlman; C P Figueroa; L J Treiman; S M Pulst
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

4.  Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.

Authors:  H S Lee; N Sambuughin; L Cervenakova; J Chapman; M Pocchiari; S Litvak; H Y Qi; H Budka; T del Ser; H Furukawa; P Brown; D C Gajdusek; J C Long; A D Korczyn; L G Goldfarb
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

5.  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

Review 6.  SCA3: neurological features, pathogenesis and animal models.

Authors:  Olaf Riess; Udo Rüb; Annalisa Pastore; Peter Bauer; Ludger Schöls
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

7.  Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India.

Authors:  K K Sinha; P F Worth; D K Jha; S Sinha; V J Stinton; M B Davis; N W Wood; M G Sweeney; K P Bhatia
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-03       Impact factor: 10.154

8.  Ubiquitination directly enhances activity of the deubiquitinating enzyme ataxin-3.

Authors:  Sokol V Todi; Brett J Winborn; K Matthew Scaglione; Jessica R Blount; Sue M Travis; Henry L Paulson
Journal:  EMBO J       Date:  2009-01-15       Impact factor: 11.598

9.  Activity and cellular functions of the deubiquitinating enzyme and polyglutamine disease protein ataxin-3 are regulated by ubiquitination at lysine 117.

Authors:  Sokol V Todi; K Matthew Scaglione; Jessica R Blount; Venkatesha Basrur; Kevin P Conlon; Annalisa Pastore; Kojo Elenitoba-Johnson; Henry L Paulson
Journal:  J Biol Chem       Date:  2010-10-13       Impact factor: 5.157

Review 10.  Mutant Ataxin-3-Containing Aggregates (MATAGGs) in Spinocerebellar Ataxia Type 3: Dynamics of the Disorder.

Authors:  Kritika Raj; Ravi Shankar Akundi
Journal:  Mol Neurobiol       Date:  2021-02-24       Impact factor: 5.590
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