Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion
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Amato AA, 1996, Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5Mb deletions in chromosome 17p11.2, Muscle Nerve, 19, 16, 10.1002/(SICI)1097-4598(199601)19:1<16::AID-MUS3>3.0.CO;2-B
Mouton P, 1999, Spectrum of clinical and eletrophysiologic features in HNPP patients with the 17 p11.2 deletion, Neurology, 52, 1440, 10.1212/WNL.52.7.1440
Infante J, 2001, Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion, Muscle Nerve, 24, 1149, 10.1002/mus.1126
Chance PF, 1993, DNA deletion associated with hereditary neuropathy with liability to pressure palsies, Cell, 72, 143, 10.1016/0092-8674(93)90058-X
Li J, 2013, The PMP-22 gene and its related diseases, Mol Neurobiol, 47, 673, 10.1007/s12035-012-8370-x
Lupski JR, 1991, DNA duplication associated with Charcot-Marie-Tooth disease type 1A, Cell, 66, 219, 10.1016/0092-8674(91)90613-4
Li J, 2004, Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies, Muscle Nerve, 29, 205, 10.1002/mus.10521
Lewis RA, 2000, Electrophysiological features of inherited demyelinating neuropathies: reappraisal in the era of molecular diagnosis, Muscle Nerve, 23, 1472, 10.1002/1097-4598(200010)23:10<1472::AID-MUS3>3.0.CO;2-#
Marques Jr W, 2005, 17p duplicated Charcot-Marie-Tooth 1A. Characteristics of a new population, J Neurol, 252, 972, 10.1007/s00415-005-0797-9
Uncini A, 1995, Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication, Muscle Nerve, 18, 628, 10.1002/mus.880180610
Pareyson D, 1996, Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion, Neurology, 46, 1133, 10.1212/WNL.46.4.1133
Li J, 2002, Hereditary neuropathy with liability to pressure palsy. The electrophysiology fits the name, Neurology, 58, 1769, 10.1212/WNL.58.12.1769
Hong YH, 2003, Clinical and electrophysiologic features of patients with 17p11.2 deletion, Acta Neurol Scand, 108, 352, 10.1034/j.1600-0404.2003.00132.x
Lenssen P, 1998, Hereditary neuropathy with liability to pressure palsy: phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation, Brain, 121, 1451, 10.1093/brain/121.8.1451
Gouider R, 1995, Clinical, eletrophysiologic and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a cromossome 17p11.2 deletion, Neurology, 45, 2018, 10.1212/WNL.45.11.2018
Dubourg O, 2000, Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies, Neuromuscular Disord, 10, 206, 10.1016/S0960-8966(99)00103-0
Nogués M, 2006, Pain: unusual presentation of hereditary neuropathy with liability to pressure palsies (HNPP), Posters/Clin Neurophysiol, 117, S121
Yurrebaso I, 2014, Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation, Neuromusc Disord, 24, 56, 10.1016/j.nmd.2013.09.005
Yilmaz U, 2015, Pain in hereditary neuropathy with liability to pressure palsy: an association with fibromyalgia syndrome?, Muscle Nerve, 51, 385, 10.1002/mus.24331
Verhagen WI, 1993, Hereditary neuropathy with liability to pressure palsy: clinical, electroneurophysiological and morphological study, J Neurol Sciences, 116, 176, 10.1016/0022-510X(93)90323-Q
Cruz-Martinez A, 1997, Clinical, genetic and electrophysiologic correlation in hereditary neuropathy with liability to pressure palsies with involvement of PMP22 gene at chromosome 17p11.2, Eur J Neurol, 4, 274, 10.1111/j.1468-1331.1997.tb00347.x
Andersson PB, 2000, Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies, Neurology, 54, 40, 10.1212/WNL.54.1.40
Luigetti M, 2014, Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience, J Neurol Sci, 341, 46, 10.1016/j.jns.2014.03.046
Merejota P, 1997, Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland, Neuromuscul Disord, 529
Lorenzoni PJ, 2008, Swallowing dysfunction in hereditary neuropathy with liability to pressure palsies, Arq Neuropsiquiatr, 66, 898, 10.1590/S0004-282X2008000600027
Malamut RI, 1994, Postsurgical Idiopathic Brachial Neuritis, Muscle Nerve, 17, 320, 10.1002/mus.880170310
Simmons Z, 2013, Electrodiagnosis of brachial plexopathies and proximal upper extremity neuropathies, Phys Med Rehabil Clin N Am, 24, 13, 10.1016/j.pmr.2012.08.021