Literature DB >> 9012421

The effect of parental gender on the GAA dynamic mutation in the FRDA gene.

L Pianese, F Cavalcanti, G De Michele, A Filla, G Campanella, O Calabrese, I Castaldo, A Monticelli, S Cocozza.   

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Year:  1997        PMID： 9012421      PMCID： PMC1712406     

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


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  9 in total

1.  Brief report: reverse mutation in myotonic dystrophy.

Authors:  H G Brunner; G Jansen; W Nillesen; M R Nelen; C E de Die; C J Höweler; B A van Oost; B Wieringa; H H Ropers; H J Smeets
Journal:  N Engl J Med       Date:  1993-02-18       Impact factor: 91.245

2.  Reverse mutation in fragile X syndrome.

Authors:  G Antiñolo; S Borrego; J C Cabeza; R Sánchez; J Sánchez; B Sánchez
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

Review 3.  Trinucleotide repeat expansions and human genetic disease.

Authors:  G Bates; H Lehrach
Journal:  Bioessays       Date:  1994-04       Impact factor: 4.345

4.  Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.

Authors:  H Telenius; E Almqvist; B Kremer; N Spence; F Squitieri; K Nichol; U Grandell; E Starr; C Benjamin; I Castaldo
Journal:  Hum Mol Genet       Date:  1995-02       Impact factor: 6.150

5.  Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy.

Authors:  A Filla; G De Michele; R Marconi; L Bucci; C Carillo; A E Castellano; L Iorio; C Kniahynicki; F Rossi; G Campanella
Journal:  J Neurol       Date:  1992-07       Impact factor: 4.849

6.  Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene.

Authors:  L Zhang; E P Leeflang; J Yu; N Arnheim
Journal:  Nat Genet       Date:  1994-08       Impact factor: 38.330

7.  Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population.

Authors:  L Pianese; S Cocozza; G Campanella; I Castaldo; F Cavalcanti; G De Michele; A Filla; A Monticelli; M Munaro; E Redolfi
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

8.  The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

Authors:  A Filla; G De Michele; F Cavalcanti; L Pianese; A Monticelli; G Campanella; S Cocozza
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

9.  Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Authors:  V Campuzano; L Montermini; M D Moltò; L Pianese; M Cossée; F Cavalcanti; E Monros; F Rodius; F Duclos; A Monticelli; F Zara; J Cañizares; H Koutnikova; S I Bidichandani; C Gellera; A Brice; P Trouillas; G De Michele; A Filla; R De Frutos; F Palau; P I Patel; S Di Donato; J L Mandel; S Cocozza; M Koenig; M Pandolfo
Journal:  Science       Date:  1996-03-08       Impact factor: 47.728
  9 in total
  17 in total

1.  FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.

Authors:  S L Nolin; G E Houck; A D Gargano; H Blumstein; C S Dobkin; W T Brown
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

Review 2.  DNA secondary structure: a common and causative factor for expansion in human disease.

Authors:  C T McMurray
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-02       Impact factor: 11.205

Review 3.  Friedreich ataxia: an overview.

Authors:  M B Delatycki; R Williamson; S M Forrest
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

4.  The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model.

Authors:  Vahid Ezzatizadeh; Ricardo Mouro Pinto; Chiranjeevi Sandi; Madhavi Sandi; Sahar Al-Mahdawi; Hein Te Riele; Mark A Pook
Journal:  Neurobiol Dis       Date:  2012-01-20       Impact factor: 5.996

5.  Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability.

Authors:  Sherman Ku; Elisabetta Soragni; Erica Campau; Elizabeth A Thomas; Gulsah Altun; Louise C Laurent; Jeanne F Loring; Marek Napierala; Joel M Gottesfeld
Journal:  Cell Stem Cell       Date:  2010-11-05       Impact factor: 24.633

6.  Microsatellites as targets of natural selection.

Authors:  Ryan J Haasl; Bret A Payseur
Journal:  Mol Biol Evol       Date:  2012-10-27       Impact factor: 16.240

7.  The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model.

Authors:  Rhonda M Clark; Irene De Biase; Anna P Malykhina; Sahar Al-Mahdawi; Mark Pook; Sanjay I Bidichandani
Journal:  Hum Genet       Date:  2006-09-21       Impact factor: 4.132

8.  Progressive GAA.TTC repeat expansion in human cell lines.

Authors:  Scott Ditch; Mimi C Sammarco; Ayan Banerjee; Ed Grabczyk
Journal:  PLoS Genet       Date:  2009-10-30       Impact factor: 5.917

Review 9.  Friedreich ataxia: the clinical picture.

Authors:  Massimo Pandolfo
Journal:  J Neurol       Date:  2009-03       Impact factor: 4.849

Review 10.  A pathogenetic classification of hereditary ataxias: is the time ripe?

Authors:  Giuseppe De Michele; Giovanni Coppola; Sergio Cocozza; Alessandro Filla
Journal:  J Neurol       Date:  2004-08       Impact factor: 4.849
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