Author pages are created from data sourced from our academic publisher partnerships and public sources.
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 in… Expand
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). This… Expand
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 short… Expand
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 have… Expand
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
- Ming-yi Chung, L. Ranum, L. Duvick, A. Servadio, H. Zoghbi, H. Orr
- Biology, Medicine
- Nature Genetics
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 repeats… Expand
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 as… Expand
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 is… Expand
Isolation and characterization of the nitrate reductase structural gene of Chlamydomonas reinhardtii.
- E. Fernández, R. Schnell, L. Ranum, S. Hussey, C. Silflow, P. Lefebvre
- Biology, Medicine
- Proceedings of the National Academy of Sciences…
- 1 September 1989
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 length… Expand
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 characterization… Expand
Myotonic dystrophy: RNA pathogenesis comes into focus.
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 multisystemic… Expand