Coexistence of type I familial amyloid polyneuropathy and spinocerebellar ataxia type 1. Clinical and genetic studies of a Japanese family.
Open Access
- 1 May 1996
- journal article
- research article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 60 (5) , 586-588
- https://doi.org/10.1136/jnnp.60.5.586-a
Abstract
No abstract availableThis publication has 9 references indexed in Scilit:
- The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutationBrain, 1995
- Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1Nature Genetics, 1993
- Identification of a novel transthyretin variant (Val30→Leu) associated with familial amyloidotic polyneuropathyFEBS Letters, 1992
- Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's diseaseThe Lancet, 1992
- X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation.Proceedings of the National Academy of Sciences, 1991
- Maternally transmitted histocompatibility antigen of mice: A hydrophobic peptide of a mitochondrially encoded proteinCell, 1990
- Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindredAnnals of Neurology, 1988
- Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniquesBiochemical and Biophysical Research Communications, 1984