Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. Aarskog, N. K., Vedeler, C. A.Real-time quantitative polymerase chain reaction: a new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum. Genet. 107: 494-498, 2000. [PubMed: 11140948] [Full Text: https://doi.org/10.1007/s004390000399\]
  2. Airaksinen, E. M., Iivanainen, M., Karli, P., Sainio, K., Haltia, M.Hereditary recurrent brachial plexus neuropathy with dysmorphic features. Acta Neurol. Scand. 71: 309-316, 1985. [PubMed: 4003034] [Full Text: https://doi.org/10.1111/j.1600-0404.1985.tb03205.x\]
  3. Arts, W. F. M., Busch, H. F. M., Van Den Brand, H. J., Jennekens, F. G. I., Frants, R. R., Stefanko, S. Z.Hereditary neuralgic amyotrophy: clinical, genetic, electrophysiological and histopathological studies. J. Neurol. Sci. 62: 261-279, 1983. [PubMed: 6668475] [Full Text: https://doi.org/10.1016/0022-510x(83)90204-6\]
  4. Barisic, N., Skarpa, D., Jusic, A., Jadro-Santel, D.Steroid responsive familial neuropathy with liability to pressure palsies. Neuropediatrics 21: 191-192, 1990. [PubMed: 2290479]
  5. Behse, F., Buchthal, F., Carlsen, F., Knapplis, G. G.Hereditary neuropathy with liability to pressure palsies: electrophysiological and histopathological aspects. Brain 95: 777-794, 1972. [PubMed: 4345910] [Full Text: https://doi.org/10.1093/brain/95.4.777\]
  6. Bradley, W. G., Madrid, R., Thrush, D. C., Campbell, M. J.Recurrent brachial plexus neuropathy. Brain 98: 381-398, 1975. [PubMed: 171026] [Full Text: https://doi.org/10.1093/brain/98.3.381\]
  7. Chance, P. F., Alderson, M. K., Leppig, K. A., Lensch, M. W., Matsunami, N., Smith, B., Swanson, P. D., Odelberg, S. J., Disteche, C. M., Bird, T. D.DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72: 143-151, 1993. [PubMed: 8422677] [Full Text: https://doi.org/10.1016/0092-8674(93)90058-x\]
  8. Cruz Martinez, A., Perez Conde, M. C., Ramon y Cajal, S., Martinez, A.Recurrent familial polyneuropathy with liability to pressure palsies: special regards to electrophysiological aspects of 25 members from 7 families. Electromyogr. Clin. Neurophysiol. 17: 101-124, 1977. [PubMed: 880924]
  9. Cruz-Martinez, A., Bort, S., Arpa, J., Palau, F.Hereditary neuropathy with liability to pressure palsies (HNPP) revealed after weight loss. Europ. Neurol. 37: 257-260, 1997. [PubMed: 9208274] [Full Text: https://doi.org/10.1159/000117463\]
  10. Davies, D. M.Recurrent peripheral-nerve palsies in a family. Lancet 264: 266-268, 1954. Note: Originally Volume II. [PubMed: 13184660] [Full Text: https://doi.org/10.1016/s0140-6736(54)90193-2\]
  11. De Jong, J. G. Y.Over families met hereditarie disposite tot het optreten van neuritiden, gecorreleard met migraine. Monatsschr. Psychiatr. Neurol. 50: 60-76, 1947. [PubMed: 20271590]
  12. Debruyne, J., Dehaene, I., Martin, J. J.Hereditary pressure-sensitive neuropathy. J. Neurol. Sci. 47: 385-394, 1980. [PubMed: 6932477] [Full Text: https://doi.org/10.1016/0022-510x(80)90091-x\]
  13. Dubi, J., Regli, F., Bischoff, A., Schneider, C., de Crousaz, G.Recurrent familial neuropathy with liability to pressure palsies: report of two cases and ultrastructural nerve study. J. Neurol. 220: 43-55, 1979. [PubMed: 84066] [Full Text: https://doi.org/10.1007/BF00313147\]
  14. Earl, C. J., Fullerton, P. M., Wakefield, G. S., Schretta, H. S.Hereditary neuropathy, with liability to pressure palsies: a clinical and electrophysiological study of four families. Quart. J. Med. 33: 481-498, 1964. [PubMed: 14212604]
  15. Felice, K. J., Leicher, C. R., DiMario, F. J., Jr.Hereditary neuropathy with liability to pressure palsies in children. Pediat. Neurol. 21: 818-821, 1999. [PubMed: 10593673] [Full Text: https://doi.org/10.1016/s0887-8994(99)00086-7\]
  16. Fewings, J. D., Mukherjee, T. M., Blumbergs, P. C., Hallpike, J. F.Tomaculous neuropathy: hereditary predisposition to pressure palsies. Aust. New Zeal. J. Med. 15: 598-603, 1985. Note: Erratum: Aust. New Zeal. J. Med. 16: 108 only, 1986. [PubMed: 3004403]
  17. Gabreels-Festen, A. A. W. M., Gabreels, F. J. M., Joosten, E. M. G., Vingerhoets, H. M., Renier, W. O.Hereditary neuropathy with liability to pressure palsies in childhood. Neuropediatrics 23: 138-143, 1992. [PubMed: 1322507] [Full Text: https://doi.org/10.1055/s-2008-1071329\]
  18. Gardner, J. H., Maloney, W.Hereditary brachial and cranial neuritis genetically linked with ocular hypotelorism and syndactyly. (Abstract) Neurology 18: 278, 1968. [PubMed: 4297726]
  19. Geiger, L. R., Mancall, E. L., Penn, A. S., Tucker, S. H.Familial neuralgic amyotrophy: report of three families with review of the literature. Brain 97: 87-102, 1974. [PubMed: 4434174] [Full Text: https://doi.org/10.1093/brain/97.1.87\]
  20. Gonnaud, P. M., Sturtz, F., Fourbil, Y., Bonnebouche, C., Tranchant, C., Warter, J. M., Chazot, G., Bady, B., Vial, C., Brechard, A. S., Vandenberghe, A.DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations. Acta Neurol. Scand. 92: 313-318, 1995. [PubMed: 8848937] [Full Text: https://doi.org/10.1111/j.1600-0404.1995.tb00135.x\]
  21. Gouider, R., LeGuern, E., Emile, J., Tardieu, S., Cabon, F., Samid, M., Weissenbach, J., Agid, Y., Bouche, P., Brice, A.Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities. Neurology 44: 2250-2252, 1994. [PubMed: 7991107] [Full Text: https://doi.org/10.1212/wnl.44.12.2250\]
  22. Gouider, R., LeGuern, E., Gugenheim, M., Tardieu, S., Maisonobe, T., Leger, J. M., Vallat, J. M., Agid, Y., Bouche, P., Brice, A.Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology 45: 2018-2023, 1995. [PubMed: 7501152] [Full Text: https://doi.org/10.1212/wnl.45.11.2018\]
  23. Hardon, W. J., van Alfen, N., Zwarts, M. J., Rotteveel, J. J.Hereditary neuropathy with liability to pressure palsies in a toddler. Neurology 59: 2008 only, 2002. [PubMed: 12499508] [Full Text: https://doi.org/10.1212/01.wnl.0000038440.62977.5c\]
  24. Hinault, P., Menault, F., Le Marec, B., Sabouraud, O.Neuropathie recurrente familiale: a propos d'une famille. J. Genet. Hum. 29: 409-417, 1981. [PubMed: 7328415]
  25. Jacob, J. C., Andermann, F., Roob, J. P.Heredofamilial neuritis with brachial predilection. Neurology 11: 1025-1033, 1961. [PubMed: 14450651] [Full Text: https://doi.org/10.1212/wnl.11.12.1025\]
  26. Kalfakis, N., Panas, M., Karadima, G., Floroskufi, P., Kokolakis, N., Vassilopoulos, D.Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment. Neurology 59: 1470-1471, 2002. [PubMed: 12427913] [Full Text: https://doi.org/10.1212/01.wnl.0000032505.45389.94\]
  27. Kleopa, K. A., Georgiou, D.-M., Nicolaou, P., Koutsou, P., Papathanasiou, E., Kyriakides, T., Christodoulou, K.A novel PMP22 mutation ser22phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. Neurogenetics 5: 171-175, 2004. [PubMed: 15205993] [Full Text: https://doi.org/10.1007/s10048-004-0184-1\]
  28. Koehler, P. J.Hereditary neuropathy with liability to pressure palsies: the first publication (1947). Neurology 60: 1211-1213, 2003. [PubMed: 12682341] [Full Text: https://doi.org/10.1212/01.wnl.0000056044.69057.d3\]
  29. Korn-Lubetzki, I., Argov, Z., Raas-Rothschild, A., Wirguin, I., Steiner, I.Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion. Am. J. Med. Genet. 113: 275-278, 2002. [PubMed: 12439896] [Full Text: https://doi.org/10.1002/ajmg.10725\]
  30. Le Guern, E., Sturtz, F., Gugenheim, M., Gouider, R., Bonnebouche, C., Ravise, N., Gonnaud, P.-M., Tardieu, S., Bouche, P., Chazot, G., Agid, Y., Vandenberghe, A., Brice, A.Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP). Cytogenet. Cell Genet. 65: 261-264, 1994. [PubMed: 7903071] [Full Text: https://doi.org/10.1159/000133643\]
  31. LeGuern, E., Gouider, R., Ravise, N., Lopes, J., Tardieu, S., Gugenheim, M., Abbas, N., Bouche, P., Agid, Y., Brice, A.A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? Hum. Molec. Genet. 5: 103-106, 1996. [PubMed: 8789446] [Full Text: https://doi.org/10.1093/hmg/5.1.103\]
  32. Lhermitte, F., Gautier, J. C., Rosa, A.Neuropathies recurrentes familiales. Rev. Neurol. 128: 419-424, 1973. [PubMed: 4368241]
  33. Li, J., Ghandour, K., Radovanovic, D., Shy, R. R., Krajewski, K. M., Shy, M. E., Nicholson, G. A.Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. Arch. Neurol. 64: 974-978, 2007. Note: Erratum: Arch. Neurol. 64: 1547 only, 2007. [PubMed: 17620487] [Full Text: https://doi.org/10.1001/archneur.64.7.974\]
  34. Li, J., Krajewski, K., Shy, M. E., Lewis, R. A.Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology 58: 1769-1773, 2002. [PubMed: 12084875] [Full Text: https://doi.org/10.1212/wnl.58.12.1769\]
  35. Lopes, J., Tardieu, S., Silander, K., Blair, I., Vandenberghe, A., Palau, F., Ruberg, M., Brice, A., LeGuern, E.Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP. Hum. Molec. Genet. 8: 2285-2292, 1999. [PubMed: 10545609] [Full Text: https://doi.org/10.1093/hmg/8.12.2285\]
  36. Madrid, R., Bradley, W. G.The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy): studies on the formation of the abnormal myelin sheath. J. Neurol. Sci. 25: 415-448, 1975.
  37. Mariman, E. C. M., Gabreels-Festen, A. A. W. M., van Beersum, S. E. C., Jongen, P. J. H., Ropers, H.-H., Gabreels, F. J. M.Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1. Hum. Genet. 92: 87-90, 1993. [PubMed: 8396068] [Full Text: https://doi.org/10.1007/BF00216152\]
  38. Mariman, E. C. M., Gabreels-Festen, A. A. W. M., van Beersum, S. E. C., Valentijn, L. J., Baas, F., Bolhuis, P. A., Jongen, P. J. H., Ropers, H. H., Gabreels, F. J. M.Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann. Neurol. 36: 650-655, 1994. [PubMed: 7944298] [Full Text: https://doi.org/10.1002/ana.410360415\]
  39. Martinelli, P., Fabbri, R., Moretto, G., Gabellini, A. S., D'Alessandro, R., Rizzuto, N.Recurrent familial brachial plexus palsies as the only clinical expression of 'tomaculous' neuropathy. Europ. Neurol. 29: 61-66, 1989. [PubMed: 2540008] [Full Text: https://doi.org/10.1159/000116379\]
  40. Maycox, P. R., Ortuno, D., Burrola, P., Kuhn, R., Bieri, P. L., Arrezo, J. C., Lemke, G.A transgenic mouse model for human hereditary neuropathy with liability to pressure palsies. Molec. Cell. Neurosci. 8: 405-416, 1997. [PubMed: 9143558] [Full Text: https://doi.org/10.1006/mcne.1997.0600\]
  41. Meretoja, P., Silander, K., Kalimo, H., Aula, P., Meretoja, A., Savontaus, M. L.Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. Neuromusc. Disord. 7: 529-532, 1997. [PubMed: 9447611] [Full Text: https://doi.org/10.1016/s0960-8966(97)00100-4\]
  42. Nicholson, G. A., Valentijn, L. J., Cherryson, A. K., Kennerson, M. L., Bragg, T. L., DeKroon, R. M., Ross, D. A., Pollard, J. D., Mcleod, J. G., Bolhuis, P. A., Baas, F.A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nature Genet. 6: 263-266, 1994. Note: Erratum: Nature Genet. 7: 113 only, 1994. [PubMed: 8012388] [Full Text: https://doi.org/10.1038/ng0394-263\]
  43. Oda, K., Miura, H., Shibasaki, H., Endo, C., Kakigi, R., Kuroda, Y., Tanaka, K.Hereditary pressure-sensitive neuropathy: demonstration of 'tomacula' in motor nerve fibers. J. Neurol. Sci. 98: 139-148, 1990. [PubMed: 1700806] [Full Text: https://doi.org/10.1016/0022-510x(90)90254-k\]
  44. Ohkoshi, N., Kohno, Y., Hayashi, A., Wada, T., Shoji, S.Acute vocal cord paralysis in hereditary neuropathy with liability to pressure palsies. Neurology 56: 1415 only, 2001. [PubMed: 11376203] [Full Text: https://doi.org/10.1212/wnl.56.10.1415\]
  45. Potocki, L., Chen, K. S., Koeuth, T., Killian, J., Iannaccone, S. T., Shapira, S. K., Kashork, C. D., Spikes, A. S., Shaffer, L. G., Lupski, J. R.DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome. Am. J. Hum. Genet. 64: 471-478, 1999. [PubMed: 9973284] [Full Text: https://doi.org/10.1086/302240\]
  46. Reisecker, F., Leblhuber, F., Lexner, R., Radner, G., Rosenkranz, W., Wagner, K.A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings. Neurology 44: 753-755, 1994. [PubMed: 7909361] [Full Text: https://doi.org/10.1212/wnl.44.4.753\]
  47. Roos, D., Thygesen, P.Familial recurrent polyneuropathy: a family and a survey. Brain 95: 235-248, 1972. [PubMed: 4347629] [Full Text: https://doi.org/10.1093/brain/95.2.235\]
  48. Sellman, M. S., Mayer, R. F.Conduction block in hereditary neuropathy with susceptibility to pressure palsies. Muscle Nerve 10: 621-625, 1987. [PubMed: 3477693] [Full Text: https://doi.org/10.1002/mus.880100706\]
  49. Sessa, M., Nemni, R., Quattrini, A., Del Carro, U., Wrabetz, L., Canal, N.Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis. J. Med. Genet. 34: 889-892, 1997. [PubMed: 9391880] [Full Text: https://doi.org/10.1136/jmg.34.11.889\]
  50. Shaibani, A., Gooch, C., Harati, Y.Moving toes and myoclonus associated with hereditary neuropathy with liability to pressure palsy (HNPP). Muscle Nerve 20: 881-883, 1997. [PubMed: 9179161] [Full Text: https://doi.org/10.1002/(sici)1097-4598(199707)20:7<881::aid-mus13>3.0.co;2-v]
  51. Silander, K., Halonen, P., Sara, R., Kalimo, H., Falck, B., Savontaus, M.-L.DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP). J. Neurol. Neurosurg. Psychiat. 57: 1260-1262, 1994. [PubMed: 7931393] [Full Text: https://doi.org/10.1136/jnnp.57.10.1260\]
  52. Staal, A., De Weerdt, C. J., Went, L. N.Hereditary compression syndrome of peripheral nerves. Neurology 15: 1008-1017, 1965. [PubMed: 4285163] [Full Text: https://doi.org/10.1212/wnl.15.11.1008\]
  53. Stockton, D. W., Meade, R. A., Netscher, D. T., Epstein, M. J., Shenaq, S. M., Shaffer, L. G., Lupski, J. R.Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome. Arch. Neurol. 58: 1635-1637, 2001. [PubMed: 11594922] [Full Text: https://doi.org/10.1001/archneur.58.10.1635\]
  54. Stogbauer, F., Young, P., Kerschensteiner, M., Ringelstein, E. B., Assmann, G., Funke, H.Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene. Muscle Nerve 21: 1199-1201, 1998. [PubMed: 9703447] [Full Text: https://doi.org/10.1002/(sici)1097-4598(199809)21:9<1199::aid-mus12>3.0.co;2-n]
  55. Stogbauer, F., Young, P., Timmerman, V., Spoelders, P., Ringelstein, E. B., Van Broeckhoven, C., Kurlemann, G.Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25. Hum. Genet. 99: 685-687, 1997. [PubMed: 9150742] [Full Text: https://doi.org/10.1007/s004390050430\]
  56. Szostak, J. W., Orr-Weaver, T. L., Rothstein, R. J., Stahl, F. W.The double-strand-break repair model for recombination. Cell 33: 25-35, 1983. [PubMed: 6380756] [Full Text: https://doi.org/10.1016/0092-8674(83)90331-8\]
  57. Umehara, F., Kiwaki, T., Yoshikawa, H., Nishimura, T., Nakagawa, M., Matsumoto, W., Hashimoto, K., Izumo, S., Arimura, Y., Arimura, K., Kuriyama, M., Osame, M.Deletion in chromosome 17p11.2 including the peripheral myelin protein-22 (PMP-22) gene in hereditary neuropathy with liability to pressure palsies. J. Neurol. Sci. 133: 173-176, 1995. [PubMed: 8583222] [Full Text: https://doi.org/10.1016/0022-510x(95)00188-8\]
  58. Verhalle, D., Lofgren, A., Nelis, E., Dehaene, I., Theys, P., Lammens, M., Dom, R., Van Broeckhoven, C., Robberecht, W.Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies. Ann. Neurol. 35: 704-708, 1994. [PubMed: 8210227] [Full Text: https://doi.org/10.1002/ana.410350611\]
  59. Wahle, H., Tonnis, D.Familiaere Anfaelligkeit gegenueber Druckschaedigungen peripherer Nerven. Fortschr. Neurol. Psychiatr. Grenzgeb. 26: 371-376, 1958. [PubMed: 13562331]