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2. DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E). Catania A; Peverelli L; Tabano S; Ghezzi D; Lamperti C Neurol Sci; 2019 Sep; 40(9):1963-1966. PubMed ID: 30911858 [No Abstract] [Full Text] [Related]
3. Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study. Hojo K; Imamura T; Takanashi M; Ishii K; Sasaki M; Imura S; Ozono R; Takatsuki Y; Takauchi S; Mori E Eur J Neurol; 1999 May; 6(3):357-61. PubMed ID: 10210919 [TBL] [Abstract][Full Text] [Related]
4. Hereditary sensory and autonomic neuropathy with ataxia and late onset. Marbini A; Pavesi G; Cenacchi G; Mazzucchi A; Preda P; Gemignani F Clin Neurol Neurosurg; 1994 May; 96(2):191-6. PubMed ID: 7924091 [TBL] [Abstract][Full Text] [Related]
10. Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies. Donaghy M; Hakin RN; Bamford JM; Garner A; Kirkby GR; Noble BA; Tazir-Melboucy M; King RH; Thomas PK Brain; 1987 Jun; 110 ( Pt 3)():563-83. PubMed ID: 3472625 [TBL] [Abstract][Full Text] [Related]
11. A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. Houlden H; King RH; Hashemi-Nejad A; Wood NW; Mathias CJ; Reilly M; Thomas PK Ann Neurol; 2001 Apr; 49(4):521-5. PubMed ID: 11310631 [TBL] [Abstract][Full Text] [Related]
12. An hereditary sensory and autonomic neuropathy transmitted as an X-linked recessive trait. Jestico JV; Urry PA; Efphimiou J J Neurol Neurosurg Psychiatry; 1985 Dec; 48(12):1259-64. PubMed ID: 3866836 [TBL] [Abstract][Full Text] [Related]
13. Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese. Bi H; Gao Y; Yao S; Dong M; Headley AP; Yuan Y Neuropathology; 2007 Oct; 27(5):429-33. PubMed ID: 18018475 [TBL] [Abstract][Full Text] [Related]
14. Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study. Minde J; Toolanen G; Andersson T; Nennesmo I; Remahl IN; Svensson O; Solders G Muscle Nerve; 2004 Dec; 30(6):752-60. PubMed ID: 15468048 [TBL] [Abstract][Full Text] [Related]
15. [A familial case with hereditary pressure-sensitive neuropathy, with "tomacula"--the first case in Japan]. Minauchi Y; Kohka M; Igata A; Ohkatsu Y Rinsho Shinkeigaku; 1982 Oct; 22(10):918-25. PubMed ID: 6963557 [No Abstract] [Full Text] [Related]
16. The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy. Suriyanarayanan S; Auranen M; Toppila J; Paetau A; Shcherbii M; Palin E; Wei Y; Lohioja T; Schlotter-Weigel B; Schön U; Abicht A; Rautenstrauss B; Tyynismaa H; Walter MC; Hornemann T; Ylikallio E Neuromolecular Med; 2016 Mar; 18(1):81-90. PubMed ID: 26573920 [TBL] [Abstract][Full Text] [Related]
17. Painless fractures and thermoregulation disturbances in sensory-autonomic neuropathy: electrophysiological abnormalities and sural nerve biopsy. Polo A; Aldegheri R; Bongiovanni LG; Cavallaro T; Rizzuto N Neuropediatrics; 2000 Jun; 31(3):148-50. PubMed ID: 10963103 [TBL] [Abstract][Full Text] [Related]
18. X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder. Cowchock FS; Duckett SW; Streletz LJ; Graziani LJ; Jackson LG Am J Med Genet; 1985 Feb; 20(2):307-15. PubMed ID: 3856385 [TBL] [Abstract][Full Text] [Related]
19. Genetic heterogeneity of hereditary motor and sensory neuropathy type VI. Ippel EF; Wittebol-Post D; Jennekens FG; Bijlsma JB J Child Neurol; 1995 Nov; 10(6):459-63. PubMed ID: 8576556 [TBL] [Abstract][Full Text] [Related]
20. Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration. Walker LA; Bourque P; Smith AM; Warman Chardon J Neuropsychology; 2017 Mar; 31(3):292-303. PubMed ID: 27869457 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]