• Publications
  • Influence
Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is caused by a CTG expansion inExpand
  • 1,088
  • 91
  • PDF
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
Myotonic dystrophy (DM) is the only disease reported to be caused by a CTG expansion. We now report that a non-coding CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). ThisExpand
  • 576
  • 42
  • PDF
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2–Megabase stretch of DNA from the shortExpand
  • 1,473
  • 40
Myotonic dystrophy type 2
Background: Myotonic dystrophy types 1 (DM1) and 2 (DM2/proximal myotonic myopathy PROMM) are dominantly inherited disorders with unusual multisystemic clinical features. The authors haveExpand
  • 317
  • 24
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19–36 repeatsExpand
  • 441
  • 21
Correlating phenotype and genotype in the periodic paralyses
Background: Periodic paralyses and paramyotonia congenita are rare disorders causing disabling weakness and myotonia. Mutations in sodium, calcium, and potassium channels have been recognized asExpand
  • 195
  • 16
  • PDF
C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD
To define how the C9orf72 GGGGCC expansion mutation causes ALS/FTD and to facilitate therapy development, a mouse model that recapitulates the molecular and phenotypic features of the disease isExpand
  • 187
  • 15
  • PDF
Isolation and characterization of the nitrate reductase structural gene of Chlamydomonas reinhardtii.
The nitrate reductase structural gene of Chlamydomonas reinhardtii has been isolated from a genomic library by using a nitrate reductase cDNA probe from barley. Restriction fragment lengthExpand
  • 201
  • 14
RNA-mediated neuromuscular disorders.
Myotonic dystrophy type 1 (DM1) is caused by a CTG expansion mutation located in the 3' untranslated portion of the dystrophica myotonin protein kinase gene. The identification and characterizationExpand
  • 282
  • 12
Myotonic dystrophy: RNA pathogenesis comes into focus.
  • L. Ranum, J. Day
  • Biology, Medicine
  • American journal of human genetics
  • 1 May 2004
Myotonic dystrophy (DM)--the most common form of muscular dystrophy in adults, affecting 1/8000 individuals--is a dominantly inherited disorder with a peculiar and rare pattern of multisystemicExpand
  • 211
  • 12
  • PDF