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2. [The nosological situation of hereditary motor and sensory neuropathies (HMSN, Charcot-Marie-Tooth disease, neural muscular atrophy)]. Warzok R; Wattig B; Schwesinger G; Schneeweiss H; Heydenreich F Zentralbl Allg Pathol; 1990; 136(6):549-62. PubMed ID: 2281721 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. PMP-22 gene duplications and deletions identified in archival, paraffin-embedded sural nerve biopsy specimens: correlation to structural changes. Thiex R; Schröder JM Acta Neuropathol; 1998 Jul; 96(1):13-21. PubMed ID: 9678509 [TBL] [Abstract][Full Text] [Related]
5. Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases. Schenone A; Abbruzzese M; Uccelli A; Mandich P; James R; Bellone E; Giunchedi M; Rolando S; Capello E; Mandich R [corrected to Mandich P] J Neurol Sci; 1994 Mar; 122(1):20-7. PubMed ID: 8195799 [TBL] [Abstract][Full Text] [Related]
6. HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. Sghirlanzoni A; Pareyson D; Balestrini MR; Bellone E; Berta E; Ciano C; Mandich P; Marazzi R Neurology; 1992 Nov; 42(11):2201-4. PubMed ID: 1436537 [TBL] [Abstract][Full Text] [Related]
7. 17p11.2 duplication is a common finding in sporadic cases of Charcot-Marie-Tooth type 1. Mancardi GL; Uccelli A; Bellone E; Sghirlanzoni A; Mandich P; Pareyson D; Schenone A; Abbruzzese M; Ajmar F Eur Neurol; 1994; 34(3):135-9. PubMed ID: 8033938 [TBL] [Abstract][Full Text] [Related]
8. The phenotypic manifestations of chromosome 17p11.2 duplication. Thomas PK; Marques W; Davis MB; Sweeney MG; King RH; Bradley JL; Muddle JR; Tyson J; Malcolm S; Harding AE Brain; 1997 Mar; 120 ( Pt 3)():465-78. PubMed ID: 9126058 [TBL] [Abstract][Full Text] [Related]
9. Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies. Verhalle D; Löfgren A; Nelis E; Dehaene I; Theys P; Lammens M; Dom R; Van Broeckhoven C; Robberecht W Ann Neurol; 1994 Jun; 35(6):704-8. PubMed ID: 8210227 [TBL] [Abstract][Full Text] [Related]
10. A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients. Silander K; Meretoja P; Nelis E; Timmerman V; Van Broeckhoven C; Aula P; Savontaus ML Hum Mutat; 1996; 8(4):304-10. PubMed ID: 8956034 [TBL] [Abstract][Full Text] [Related]
11. [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]
12. [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]
13. 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]
14. Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. Timmerman V; Raeymaekers P; Nelis E; De Jonghe P; Muylle L; Ceuterick C; Martin JJ; Van Broeckhoven C J Neurol Sci; 1992 May; 109(1):41-8. PubMed ID: 1517763 [TBL] [Abstract][Full Text] [Related]