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138 related items for PubMed ID: 7478198
1. 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 14; 194(1-2):136-8. PubMed ID: 7478198 [Abstract] [Full Text] [Related]
2. 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 14; 122(1):20-7. PubMed ID: 8195799 [Abstract] [Full Text] [Related]
3. Deletion in chromosome 17p11.2 including the peripheral myelin protein-22 (PMP-22) gene in hereditary neuropathy with liability to pressure palsies. Umehara F, Kiwaki T, Yoshikawa H, Nishimura T, Nakagawa M, Matsumoto W, Hashimoto K, Izumo S, Arimura Y, Arimura K. J Neurol Sci; 1995 Nov 14; 133(1-2):173-6. PubMed ID: 8583222 [Abstract] [Full Text] [Related]
4. Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies. Gabriel JM, Erne B, Pareyson D, Sghirlanzoni A, Taroni F, Steck AJ. Neurology; 1997 Dec 14; 49(6):1635-40. PubMed ID: 9409359 [Abstract] [Full Text] [Related]
5. 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 14; 96(1):13-21. PubMed ID: 9678509 [Abstract] [Full Text] [Related]
7. Overview of hereditary neuropathy with liability to pressure palsies. Chance PF. Ann N Y Acad Sci; 1999 Sep 14; 883():14-21. PubMed ID: 10586225 [Abstract] [Full Text] [Related]
8. Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation. Leonardis L, Zidar J, Ekici A, Peterlin B, Rautenstrauss B. Int J Mol Med; 1998 Feb 14; 1(2):495-501. PubMed ID: 9852256 [Abstract] [Full Text] [Related]
9. Charcot-Marie-Tooth disease and related inherited neuropathies. Murakami T, Garcia CA, Reiter LT, Lupski JR. Medicine (Baltimore); 1996 Sep 14; 75(5):233-50. PubMed ID: 8862346 [Abstract] [Full Text] [Related]
10. 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 14; 35(6):704-8. PubMed ID: 8210227 [Abstract] [Full Text] [Related]
11. Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR. Beckmann A, Schröder JM. Acta Neuropathol; 2000 Nov 14; 100(5):459-63. PubMed ID: 11045666 [Abstract] [Full Text] [Related]
12. 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 14; 56(10):1283-8. PubMed ID: 10520946 [Abstract] [Full Text] [Related]
13. Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease. Mathis S, Corcia P, Tazir M, Camu W, Magdelaine C, Latour P, Biberon J, Guennoc AM, Richard L, Magy L, Funalot B, Vallat JM. Neuromuscul Disord; 2014 Jun 14; 24(6):524-8. PubMed ID: 24792522 [Abstract] [Full Text] [Related]
14. [A case of hereditary motor and sensory neuropathy (HMSN) with excessive myelin outfolding with autosomal recessive inheritance]. Ohnishi A, Narazaki O, Hanai T. J UOEH; 1998 Dec 01; 20(4):345-52. PubMed ID: 9883484 [Abstract] [Full Text] [Related]
15. Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies. Schenone A, Nobbio L, Caponnetto C, Abbruzzese M, Mandich P, Bellone E, Ajmar F, Gherardi G, Windebank AJ, Mancardi G. Ann Neurol; 1997 Dec 01; 42(6):866-72. PubMed ID: 9403478 [Abstract] [Full Text] [Related]
16. A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Lorenzetti D, Pareyson D, Sghirlanzoni A, Roa BB, Abbas NE, Pandolfo M, Di Donato S, Lupski JR. Am J Hum Genet; 1995 Jan 01; 56(1):91-8. PubMed ID: 7825607 [Abstract] [Full Text] [Related]
17. Molecular diagnosis of PMP22-associated neuropathies using fluorescence in situ hybridization (FISH) on archival peripheral nerve tissue preparations. Liehr T, Grehl H, Rautenstrauss B. Acta Neuropathol; 1997 Sep 01; 94(3):266-71. PubMed ID: 9292696 [Abstract] [Full Text] [Related]
18. Molecular basis of hereditary neuropathies. Chance PF. Phys Med Rehabil Clin N Am; 2001 May 01; 12(2):277-91. PubMed ID: 11345007 [Abstract] [Full Text] [Related]
19. [Analysis of mutations in the chromosome 17p11.2 region in patients with Charcot-Marie-Tooth type 1 disease and in patients with tomaculous neuropathy]. Zamurović N, Milić V, Dacković J, Zamurović D, Culjković B, Parlović S, Apostolski S, Romac S. Srp Arh Celok Lek; 2002 May 01; 130(3-4):59-63. PubMed ID: 12154515 [Abstract] [Full Text] [Related]
20. Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies. Stronach EA, Clark C, Bell C, Löfgren A, McKay NG, Timmerman V, Van Broeckhoven C, Haites NE. J Peripher Nerv Syst; 1999 May 01; 4(2):117-22. PubMed ID: 10442687 [Abstract] [Full Text] [Related] Page: [Next] [New Search]