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4. [Genotype-phenotype correlation in hereditary motor-sensory neuropathy type IA associated with duplication in chromosome 17p11.2-12]. Ryniewicz B; Jedrzejowska H; Kochański A Neurol Neurochir Pol; 2000; 34(6):1145-53. PubMed ID: 11317491 [TBL] [Abstract][Full Text] [Related]
5. Hypertrophic motor and sensory neuropathy type I (Charcot-Marie-Tooth disease): ultrastructural study of sural nerve biopsy in members of a family. Calore EE; Alonso Neto JL; Cavaliere MJ; Perez NM; Russo DH; Wakamatsu A; Maeda MY; Kitamura C Pathologica; 1994 Jun; 86(3):279-83. PubMed ID: 7808799 [TBL] [Abstract][Full Text] [Related]
6. A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. De Jonghe P; Timmerman V; Nelis E; De Vriendt E; Löfgren A; Ceuterick C; Martin JJ; Van Broeckhoven C Arch Neurol; 1999 Oct; 56(10):1283-8. PubMed ID: 10520946 [TBL] [Abstract][Full Text] [Related]
7. Charcot-Marie-Tooth disease type 1A: a clinical, electrophysiological, pathological, and genetic study. Hsieh SY; Kuo HC; Chu CC; Lin KP; Huang CC Chang Gung Med J; 2004 Apr; 27(4):300-6. PubMed ID: 15239197 [TBL] [Abstract][Full Text] [Related]
8. Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. Gabreëls-Festen AA; Bolhuis PA; Hoogendijk JE; Valentijn LJ; Eshuis EJ; Gabreëls FJ Acta Neuropathol; 1995; 90(6):645-9. PubMed ID: 8615087 [TBL] [Abstract][Full Text] [Related]
9. Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages. Rautenstrauss B; Liehr T; Fuchs C; Bevot A; Bornemann A; Postler E; Meyermann R; Uhlhaas S; Friedl W; Michaelis R Int J Mol Med; 1998 Feb; 1(2):333-7. PubMed ID: 9852234 [TBL] [Abstract][Full Text] [Related]
10. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Birouk N; Gouider R; Le Guern E; Gugenheim M; Tardieu S; Maisonobe T; Le Forestier N; Agid Y; Brice A; Bouche P Brain; 1997 May; 120 ( Pt 5)():813-23. PubMed ID: 9183252 [TBL] [Abstract][Full Text] [Related]
11. Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a). Hoogendijk JE; Janssen EA; Gabreëls-Festen AA; Hensels GW; Joosten EM; Gabreëls FJ; Zorn I; Valentijn LJ; Baas F; Ongerboer de Visser BW Neurology; 1993 May; 43(5):1010-5. PubMed ID: 8492918 [TBL] [Abstract][Full Text] [Related]
12. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Raeymaekers P; Timmerman V; Nelis E; De Jonghe P; Hoogendijk JE; Baas F; Barker DF; Martin JJ; De Visser M; Bolhuis PA Neuromuscul Disord; 1991; 1(2):93-7. PubMed ID: 1822787 [TBL] [Abstract][Full Text] [Related]
13. Mild phenotype of Charcot-Marie-Tooth disease type 4B1. Murakami T; Kutoku Y; Nishimura H; Hayashi M; Abe A; Hayasaka K; Sunada Y J Neurol Sci; 2013 Nov; 334(1-2):176-9. PubMed ID: 23962696 [TBL] [Abstract][Full Text] [Related]
14. Neurophysiology and molecular genetics of Charcot-Marie-Tooth type 1 neuropathy in Croatian children: follow-up study. Barisić N; Mihatov I Croat Med J; 2000 Sep; 41(3):306-13. PubMed ID: 10962051 [TBL] [Abstract][Full Text] [Related]
15. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. Raeymaekers P; Timmerman V; Nelis E; Van Hul W; De Jonghe P; Martin JJ; Van Broeckhoven C J Med Genet; 1992 Jan; 29(1):5-11. PubMed ID: 1552545 [TBL] [Abstract][Full Text] [Related]
16. Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding. James R; Bellone E; Nelis E; Mandich P; Schenone A; Mancardi G; Van Broeckhoven C; Abbruzzese M; Ajmar F Neurosci Lett; 1995 Jul; 194(1-2):136-8. PubMed ID: 7478198 [TBL] [Abstract][Full Text] [Related]
17. Inflammatory pathological changes in a 2-year-old boy with Charcot-Marie-Tooth disease. Nakai Y; Okumura A; Takada H; Negoro T; Watanabe K; Hattori N; Sobue G Brain Dev; 2001 Jul; 23(4):258-60. PubMed ID: 11377008 [TBL] [Abstract][Full Text] [Related]
18. Autosomal recessive form of hereditary motor and sensory neuropathy type I. Gabreëls-Festen AA; Gabreëls FJ; Jennekens FG; Joosten EM; Janssen-van Kempen TW Neurology; 1992 Sep; 42(9):1755-61. PubMed ID: 1513466 [TBL] [Abstract][Full Text] [Related]
19. Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. Liehr T; Rautenstrauss B; Grehl H; Bathke KD; Ekici A; Rauch A; Rott HD Hum Genet; 1996 Jul; 98(1):22-8. PubMed ID: 8682501 [TBL] [Abstract][Full Text] [Related]
20. Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. LeGuern E; Gouider R; Mabin D; Tardieu S; Birouk N; Parent P; Bouche P; Brice A Ann Neurol; 1997 Jan; 41(1):104-8. PubMed ID: 9005872 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]