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42. A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene. Tozza S; Magri S; Pennisi EM; Schirinzi E; Pisciotta C; Balistreri F; Severi D; Ricci G; Siciliano G; Taroni F; Santoro L; Manganelli F J Peripher Nerv Syst; 2019 Jun; 24(2):219-223. PubMed ID: 30843326 [TBL] [Abstract][Full Text] [Related]
43. Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. Al-Thihli K; Rudkin T; Carson N; Poulin C; Melançon S; Der Kaloustian VM Am J Med Genet A; 2008 Sep; 146A(18):2412-6. PubMed ID: 18698610 [TBL] [Abstract][Full Text] [Related]
44. A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease. Shiga K; Noto Y; Mizuta I; Hashiguchi A; Takashima H; Nakagawa M J Peripher Nerv Syst; 2012 Jun; 17(2):206-9. PubMed ID: 22734907 [TBL] [Abstract][Full Text] [Related]
45. Charcot-Marie-Tooth disease with Leber optic atrophy. McLeod JG; Low PA; Morgan JA Neurology; 1978 Feb; 28(2):179-84. PubMed ID: 563998 [TBL] [Abstract][Full Text] [Related]
46. [Are Friedreich's disease, Charcot-Marie disease and Déjérine-Sottas disease distinct nosologic entities? Two familial cases with associated syndromes]. BULGARELLI R; LEVA R Minerva Pediatr; 1954 Jul; 6(13):497-502. PubMed ID: 13203336 [No Abstract] [Full Text] [Related]
47. [Case of Déjerine-Sottas disease with schizophrenic symptoms]. Nakao T; Okuma T; Matsushima Y; Takahashi K; Nagami M Rinsho Shinkeigaku; 1972 Mar; 12(3):149-57. PubMed ID: 4674763 [No Abstract] [Full Text] [Related]
48. A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Ikegami T; Nicholson G; Ikeda H; Ishida A; Johnston H; Wise G; Ouvrier R; Hayasaka K Biochem Biophys Res Commun; 1996 May; 222(1):107-10. PubMed ID: 8630052 [TBL] [Abstract][Full Text] [Related]
49. [Dejerine-Sottas disease. Proximal pseudomyopathic form]. Gimeno Alava A; Navarro C; Martinez Lage M; Liano H Rev Neurol (Paris); 1971 Jun; 124(6):451-3. PubMed ID: 4945966 [No Abstract] [Full Text] [Related]
50. [Molecular basis of Charcot-Marie-Tooth neuropathy]. Hayasaka K Nihon Rinsho; 1996 Aug; 54(8):2243-51. PubMed ID: 8810804 [TBL] [Abstract][Full Text] [Related]
51. Variation of phenotype in Charcot-Marie-Tooth disease. Baker RS; Upton AR Neuropadiatrie; 1979 Aug; 10(3):290-5. PubMed ID: 583067 [TBL] [Abstract][Full Text] [Related]
54. [Degenerative myelo-radiculo-neuropathy. Review of the literature concerning Dejerine-Sottas disease, Charcot-Marie-Tooth disease and the Roussy-Lévy syndrome. Presentation of 6 personal cases]. Spinnler H Sist Nerv; 1968; 20(3):147-237. PubMed ID: 4314017 [No Abstract] [Full Text] [Related]
55. Myelographic evidence for nerve root enlargement in a case of Charcot-Marie-Tooth disease. Kremenitzer M; Ager PJ; Zingesser LH Neuroradiology; 1976 Jul; 11(4):165-7. PubMed ID: 958617 [TBL] [Abstract][Full Text] [Related]
56. Electron-microscopic heterogeneity of onion-bulb neuropathies of the Déjerine-Sottas type. Two patients in one family with the variant described by Lyon (1969). Joosten E; Gabreëls F; Gabrèèls-Festen A; Vrensen G; Korten J; Notermans S Acta Neuropathol; 1974 Feb; 27(2):105-18. PubMed ID: 4152255 [No Abstract] [Full Text] [Related]
57. [Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Molecular-genetic aspects]. Hertz MJ; Jensen AD; Brandt CA; Bisgård C Ugeskr Laeger; 1995 Jun; 157(25):3613-8. PubMed ID: 7652980 [TBL] [Abstract][Full Text] [Related]
58. [Neuro-medullary amyotrophy of Charcot-Marie-Tooth associated with congenital multiplex arthrogryposis. Report of a case and review of the literature]. De Mattos JP; Martins WN Arq Neuropsiquiatr; 1982 Sep; 40(3):281-8. PubMed ID: 7159260 [No Abstract] [Full Text] [Related]
59. [SYNDROME OF SPINO-CEREBELLAR DEGENERATION WITH OPTIC ATROPHY AND DISTAL AMYOTROPHY OF THE CHARCOT-MARIE-TOOTH TYPE IN A 4-YEAR-OLD CHILD]. BERNARD R; MOUREN P; SOULAYROL R; PINSARD N Pediatrie; 1963; 18():816-21. PubMed ID: 14106624 [No Abstract] [Full Text] [Related]
60. [Clinical, histologic and genealogic aspects of Déjerine-Sottas disease]. CREUTZFELDT HG; CURTIUS F; KRUGER KH Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr; 1951; 186(4):341-60. PubMed ID: 14857718 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]