Bibliography
- TAYLOR EW: Progressive vagus-glossopharyngeal paralysis with ptosis: a contribution to the group of family diseases. J. Nerv. Ment. Dis. (1915) 42:129–139.
- VICTOR M, HAYES R, ADAMS RD: Oculopharyngeal muscular dystrophy: a familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. New Engl. J. Med. (1962) 207:1267–1272.
- BLUMEN SC, NISIPEANU P, SADEH M et al: Clinicalfeatures of oculopharyngeal muscular dystrophy among Bukhara Jews. Neuromusc. Disord. (1993) 3:575–577.
- ROWLAND LP, HIRANO M, DIMAURO S, SCHON EA: Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmo-plegia. Neuromusc. Disord. (1997) 7 (Suppl. 1):S15–521.
- TOME FMS, FARDEAU M: Nuclear inclusions in oculopharyngeal muscular dystrophy. Acta Neuropa-thol. (Berlin) (1980) 49:85–87.
- DE SEZE J, PASQUIER F, RUCHOUX M-M, HURTE VENT J-F, PETIT H: Les anomalies mitochondriales au cours de la dystrophie musculaire oculo-pharyngée. Rev. Neurol. (Paris) (1997) 153:335–338.
- BRATS B, XIE Y-G, SANSON Metal.: The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac and mysoin heavy chain genes on chromo-some 14q11.2-q13. Hum. Mol. Genet. (1995) 4:429–434.
- STARCH JM, GILCHRIST JM, LENNON F et al.: Confirma-tion of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13. Ann. Neurol. (1996) 40:801–804.
- KRESS W, HALLIGER-KELLER B, GRIMM T et al.: No evidence for heterogeneity in oculopharyngeal muscular dystrophy. J. Med. Genet. (1998) 35:613–614.
- BRATS B, BOUCHARD J-P, XIE Y-G et al.: Short GCG expansions in the PAB2 gene cause oculopharyngeal muscular dystrophy. Nature Genet. (1998) 18:164–167.
- ••Demonstration that expansions of the (GCG) trinucleotidein exon 1 of the PAB II gene are deterministic for OPMD.
- NEMETH A, KRAUSE S, BLANK D et al. Isolation of genomic and cDNA clones encoding bovine poly(A) binding protein II. Nucleic Acids Res. (1 99 5) 23:4034-4041.
- WAHLE E: A novel poly(A)-binding protein acts as a specificity factor in the second phase of messenger RNA polyadenylation. Cell (1991) 66:759–768.
- ROSENBERG RN: DNA-triplet repeats and neurologic disease. New Engl. J. Med. (1996) 335:1222–1224.
- BLUMEN SC, BRATS B, KORCZYN AD et al.: Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Ann. Neurol (1999) 46:115–118.
- •Study showing that homozygotes for (GCG)9 expansions had a more severe OPMD phenotype than heterozygotes.
- LEZZA AMS, CORMIO A, GERARDI P et al: Mitochondrial DNA deletions in oculopharyngeal muscular dystrophy. FEBS Lett. (1997) 418:167–170.
- MUQIT MMK, WOOD NW, LARNER AJ, LANE RJM: Morphological mitochondrial abnormalities and mitochondrial DNA deletions in monozygotic twins with genetically-confirmed oculopharyngeal muscular dystrophy. (1999). (Submitted).
- PERUTZ MF: Glutamine repeats and neurodegenerative diseases: molecular aspects. Trends Biochem. Sci. (1999) 24:58–63.
- DIFIGLIA M, SAPP E, CHASE KO et al.: Aggregation ofhuntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science (1 99 7) 277:1990-1993.
- PAULSON HL, PEREZ MK, TROTTIER Y et al.: Intranuclearinclusions of expanded polyglutamine protein in spinocerebellar ataxia Type 3. Neuron (1997) 19:333–344.
- LARNER AJ: Tau protein as a therapeutic target inAlzheimer's disease and other neurodegenerative disorders. Exp. Opin. Ther. Patents (1 9 9 9) 9(10):1359–1370.