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5. A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study. Nelson I; Hanna MG; Alsanjari N; Scaravilli F; Morgan-Hughes JA; Harding AE Ann Neurol; 1995 Mar; 37(3):400-3. PubMed ID: 7695240 [TBL] [Abstract][Full Text] [Related]
6. [Alport's syndrome (heredo-familial glomerulonephritis with deafness and eye abnormalities)]. Genova R Clin Pediatr (Bologna); 1971 Sep; 53(9):301-13. PubMed ID: 5004353 [No Abstract] [Full Text] [Related]
12. Hereditary hypertrophic neuropathy. Report of two cases of an autosomal recessive variant. Kalyanaraman K; Cancilla PA; Munsat T; Pearson CM Bull Los Angeles Neurol Soc; 1970 Apr; 35(2):58-68. PubMed ID: 4314732 [No Abstract] [Full Text] [Related]
13. [Electromyographic and neurographic study of a family with HMSN (hereditary motor and sensory neuropathy) "plus"]. Sepe Visconti O; De Falco FA; Zaccaria F; Viotti L; Fels A; Rossi V; Barbieri F Riv Neurobiol; 1984; 30(2-3):208-21. PubMed ID: 6100514 [No Abstract] [Full Text] [Related]
14. Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. Begeer JH; Scholte FA; van Essen AJ J Med Genet; 1991 Dec; 28(12):884-5. PubMed ID: 1661780 [TBL] [Abstract][Full Text] [Related]
15. The Nathalie syndrome. A new hereditary syndrome. Cremers CW; Ter Haar BG; Van Rens TJ Clin Genet; 1975 Nov; 8(5):330-40. PubMed ID: 1204231 [TBL] [Abstract][Full Text] [Related]
16. [The role of intercellular communication via "gap junctions" in disease]. Vinken M; Vanhaecke T; Rogiers V Ned Tijdschr Geneeskd; 2003 Dec; 147(50):2463-6. PubMed ID: 14708210 [TBL] [Abstract][Full Text] [Related]
17. [Hereditary compression neuropathy. A classification problem in hereditary neurologic diseases]. de Weerdt CJ; Staal A; Went LN Ned Tijdschr Geneeskd; 1970 Oct; 114(40):1648-54. PubMed ID: 4319124 [No Abstract] [Full Text] [Related]
18. [Peripheral nerve diseases causing perforating ulcer and defects of extremities, with special reference to hereditary sensory radicular neuropathy]. Takasu T Saishin Igaku; 1968 Nov; 23(11):2341-55. PubMed ID: 4304323 [No Abstract] [Full Text] [Related]
19. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Kamm C; Healy DG; Quinn NP; Wüllner U; Moller JC; Schols L; Geser F; Burk K; Børglum AD; Pellecchia MT; Tolosa E; del Sorbo F; Nilsson C; Bandmann O; Sharma M; Mayer P; Gasteiger M; Haworth A; Ozawa T; Lees AJ; Short J; Giunti P; Holinski-Feder E; Illig T; Wichmann HE; Wenning GK; Wood NW; Gasser T; Brain; 2005 Aug; 128(Pt 8):1855-60. PubMed ID: 15947063 [TBL] [Abstract][Full Text] [Related]
20. [An unusual picture of pigmentary dermatologic disease associated with retinitis pigmentosa, cataract and congenital deafness, oligophrenia and cerebellar ataxia]. Scialdone D; Artifoni E G Ital Oftalmol; 1964; 17(1):49-60. PubMed ID: 5827882 [No Abstract] [Full Text] [Related] [Next] [New Search]