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3. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Macedo-Souza LI; Kok F; Santos S; Amorim SC; Starling A; Nishimura A; Lezirovitz K; Lino AM; Zatz M Ann Neurol; 2005 May; 57(5):730-7. PubMed ID: 15852396 [TBL] [Abstract][Full Text] [Related]
4. [Peroneal muscle atrophy with talipes cavus. Pyramidal symptoms and sensory disorders in one family. On the problem of the nosological classification of hereditary spinal diseases and polyneuropathies]. Schnider A; Hess CW; Meier C Schweiz Med Wochenschr; 1990 Nov; 120(47):1755-62. PubMed ID: 2255880 [TBL] [Abstract][Full Text] [Related]
9. Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA. Hotta Y; Fujiki K; Hayakawa M; Nakajima A; Kanai A; Mashima Y; Hiida Y; Shinoda K; Yamada K; Oguchi Y Jpn J Ophthalmol; 1995; 39(1):96-108. PubMed ID: 7643491 [TBL] [Abstract][Full Text] [Related]
10. [Clinical manifestation and molecular identification of patients with Leber's hereditary optic neuropathy in a national reference center for neuro-ophthalmology in Cuba]. Santiesteban-Freixas R; Rodríguez-Hernández M; Mendoza-Santiesteban CE; Carrero-Salgado M; Francisco-Plasencia M; Méndez-Larramendi I; Vidal-Casalís S; Rivero-Reyes R; Hirano M Rev Neurol; 1999 Sep 1-15; 29(5):408-15. PubMed ID: 10584242 [TBL] [Abstract][Full Text] [Related]
14. Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family. Dillmann U; Heide G; Dietz B; Teshmar E; Schimrigk K J Neurol; 1997 Sep; 244(9):562-5. PubMed ID: 9352453 [TBL] [Abstract][Full Text] [Related]
15. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Payne M; Yang Z; Katz BJ; Warner JE; Weight CJ; Zhao Y; Pearson ED; Treft RL; Hillman T; Kennedy RJ; Meire FM; Zhang K Am J Ophthalmol; 2004 Nov; 138(5):749-55. PubMed ID: 15531309 [TBL] [Abstract][Full Text] [Related]
16. Association of the LHON 13,708 and 15,257 mitochondrial DNA mutations with neurodegenerative diseases distinct from LHON. Rödel G; Laubhan R; Scheuerle A; Skowronek P; Haferkamp O Eur J Med Res; 1996 Jul; 1(10):491-4. PubMed ID: 9438147 [TBL] [Abstract][Full Text] [Related]
17. Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy. Chalmers RM; Riordan-Eva P; Wood NW J Neurol Neurosurg Psychiatry; 1997 Apr; 62(4):385-7. PubMed ID: 9120454 [TBL] [Abstract][Full Text] [Related]
18. Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. Valéro R; Bannwarth S; Roman S; Paquis-Flucklinger V; Vialettes B Diabet Med; 2008 Jun; 25(6):657-61. PubMed ID: 18544103 [TBL] [Abstract][Full Text] [Related]
19. Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis. Chen JD; Cox I; Denton MJ Hum Genet; 1989 Jun; 82(3):203-7. PubMed ID: 2731932 [TBL] [Abstract][Full Text] [Related]
20. [Amaurosis congenita (Leber) with severe genital developmental delay]. Fehlow P Padiatr Grenzgeb; 1989; 28(4):237-40. PubMed ID: 2797836 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]