Analysis of segregation patterns in Machado-Joseph disease pedigrees

[1]  R. Montiel,et al.  Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal) , 2008, Journal of Human Genetics.

[2]  Marco Seri,et al.  SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. , 2006, Brain : a journal of neurology.

[3]  C. Gellera,et al.  SCA 28 , a novel form of autosomal dominant cerebellar ataxia on chromosome 18 p 11 . 22 – q 11 . 2 , 2005 .

[4]  J. Dreesen,et al.  Preimplantation genetic diagnosis of spinocerebellar ataxia 3 by (CAG)(n) repeat detection. , 2004, Molecular human reproduction.

[5]  G. Rouleau,et al.  Improvement in the molecular diagnosis of Machado-Joseph disease. , 2001, Archives of neurology.

[6]  M. Lima,et al.  NATURAL SELECTION AT THE MJD LOCUS: PHENOTYPIC DIVERSITY, SURVIVAL AND FERTILITY AMONG MACHADO-JOSEPH DISEASE PATIENTS FROM THE AZORES , 2001, Journal of Biosocial Science.

[7]  M. Hattori,et al.  The genomic structure and expression of MJD, the Machado-Joseph disease gene , 2001, Journal of Human Genetics.

[8]  M. McPeek,et al.  French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis. , 1999, Human molecular genetics.

[9]  M. Lima,et al.  Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal). , 1998, Human biology.

[10]  G. Rouleau,et al.  Prenatal diagnosis of Machado–Joseph disease by direct mutation analysis , 1998, Prenatal diagnosis.

[11]  S. Marie,et al.  Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) families. , 1998, American journal of medical genetics.

[12]  S. Tsuji,et al.  Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability. , 1997, Human molecular genetics.

[13]  L. Schöls,et al.  Transmission distortion of the mutant alleles in spinocerebellar ataxia , 1997, Human Genetics.

[14]  S. Tsuji,et al.  Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis. , 1996, American journal of human genetics.

[15]  Shigenobu Nakamura,et al.  CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 , 1994, Nature Genetics.

[16]  Y. Kagawa,et al.  The gene for Machado–Joseph disease maps to human chromosome 14q , 1993, Nature Genetics.

[17]  Ian H Ellis,et al.  Introduction to risk calculation in genetic counselling , 1993 .

[18]  R. Lechtenberg Handbook of cerebellar diseases , 1993 .

[19]  Maria Coutinho Doença de Machado-Joseph : Tentativa de definição , 1992 .

[20]  I. Young Introduction to Risk Calculation in Genetic Counseling , 1991 .

[21]  C. Andrade,et al.  Autosomal dominant system degeneration in Portuguese families of the Azores Islands , 1978, Neurology.

[22]  B. Woods,et al.  Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity. , 1972, Journal of the neurological sciences.

[23]  K. Nakano,et al.  Machado disease , 1972, Neurology.