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7. PERIPHERAL AVASCULAR RETINA WITH DISK ANOMALY AND HIGH MYOPIA: A Novel Association in a Hereditary Isolated Ocular Disorder. Habib AM; Elkitkat RS; Saleh MI; Abd El-Salam MM Retina; 2016 Feb; 36(2):408-14. PubMed ID: 26225485 [TBL] [Abstract][Full Text] [Related]
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10. Autosomal dominant late onset cerebellar ataxia with myoclonus, peripheral neuropathy and sensorineural deafness: a clinicopathological report. Baraitser M; Gooddy W; Halliday AM; Harding AE; Rudge P; Scaravilli F J Neurol Neurosurg Psychiatry; 1984 Jan; 47(1):21-5. PubMed ID: 6319613 [TBL] [Abstract][Full Text] [Related]
11. Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. Moghadam KK; Pizza F; Tonon C; Lodi R; Carelli V; Poli F; Franceschini C; Barboni P; Seri M; Ferrari S; La Morgia C; Testa C; Cornelio F; Liguori R; Winkelmann J; Lin L; Mignot E; Plazzi G Sleep Med; 2014 May; 15(5):582-5. PubMed ID: 24709307 [TBL] [Abstract][Full Text] [Related]
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13. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Arts WF; Loonen MC; Sengers RC; Slooff JL Ann Neurol; 1993 May; 33(5):535-9. PubMed ID: 8498830 [TBL] [Abstract][Full Text] [Related]
15. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. Michaelides M; Holder GE; Hunt DM; Fitzke FW; Bird AC; Moore AT Br J Ophthalmol; 2005 Feb; 89(2):198-206. PubMed ID: 15665353 [TBL] [Abstract][Full Text] [Related]
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18. Familial spinocerebellar ataxia with skin hyperpigmentation. Daras M; Tuchman AJ; David S J Neurol Neurosurg Psychiatry; 1983 Aug; 46(8):743-4. PubMed ID: 6886718 [TBL] [Abstract][Full Text] [Related]
19. Heredo-ataxia and cochleo-vestibular disorders. van de Heyning PH Acta Otorhinolaryngol Belg; 1978; 32(6):671-84. PubMed ID: 377906 [TBL] [Abstract][Full Text] [Related]
20. Familial myoclonus, cerebellar ataxia, and deafness. Specific genetically-determined disease. May DL; White HH Arch Neurol; 1968 Sep; 19(3):331-8. PubMed ID: 5698045 [No Abstract] [Full Text] [Related] [Next] [New Search]