Diagnosis of Five Spinocerebellar Ataxia Disorders by Multiplex Amplification and Capillary Electrophoresis

This publication has 26 references indexed in Scilit:

• Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
  Nature Genetics, 2000
• The Ins and Outs of a Polyglutamine Neurodegenerative Disease: Spinocerebellar Ataxia Type 1 (SCA1)
  Neurobiology of Disease, 2000
• Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology
  European Journal of Human Genetics, 2000
• Applications of capillary electrophoresis in DNA mutation analysis of genetic disorders.
  Molecular Pathology, 1997
• Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
  Nature Genetics, 1997
• Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
  Nature Genetics, 1997
• Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
  Nature Genetics, 1996
• A simplified procedure for developing multiplex PCRs.
  Genome Research, 1995
• CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
  Nature Genetics, 1994
• Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
  Nature Genetics, 1993