Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experience
Tài liệu tham khảo
Andreadou, 1996, Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation, J Neurol, 243, 225, 10.1007/BF00868518
Barisić, 1990, Steroid responsive familial neuropathy with liability to pressure palsies, Neuropediatrics, 21, 191, 10.1055/s-2008-1071493
Chance, 1993, DNA deletion associated with hereditary neuropathy with liability to pressure palsies, Cell, 72, 143, 10.1016/0092-8674(93)90058-X
Cruz-Martinez, 1998, Pediatric bilateral carpal tunnel syndrome as first manifestation of hereditary neuropathy with liability to pressure palsies (HNPP), Eur J Neurol, 5, 316, 10.1046/j.1468-1331.1998.530316.x
Del Colle, 2003, Hereditary neuropathy with liability to pressure palsies: electrophysiological and genetic study of a family with carpal tunnel syndrome as only clinical manifestation, Neurol Sci, 24, 57, 10.1007/s100720300072
Desurkar, 2009, Charcot–Marie–Tooth (CMT) disease 1A with superimposed inflammatory polyneuropathy in children, Neuropediatrics, 40, 85, 10.1055/s-0029-1237720
Foley, 2012, Charcot–Marie–Tooth disease in Northern England, J Neurol Neurosurg Psychiatry, 283, 572, 10.1136/jnnp-2011-300285
Gouider, 1995, 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, 10.1212/WNL.45.11.2018
Hong, 2003, Clinical and electrophysiologic features of HNPP patients with 17p11.2 deletion, Acta Neurol Scand, 108, 352, 10.1034/j.1600-0404.2003.00132.x
Kimura, 1989, 103
Le Forestier, 1997, Recurrent polyradiculoneuropathy with the 17p11.2 deletion, Muscle Nerve, 20, 1184, 10.1002/(SICI)1097-4598(199709)20:9<1184::AID-MUS16>3.0.CO;2-T
Li, 2002, Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name, Neurology, 58, 1769, 10.1212/WNL.58.12.1769
Luigetti, 2008, A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies, Muscle Nerve, 38, 1060, 10.1002/mus.21083
Luigetti, 2012, Nerve conduction studies of the sural nerve: normative data from a single-center experience, Clin Neurophysiol, 123, 1891, 10.1016/j.clinph.2012.02.075
Luigetti, 2012, Sural nerve pathology in ALS patients: a single-centre experience, Neurol Sci, 33, 1095, 10.1007/s10072-011-0909-5
Luigetti, 2012, Clinical and pathological heterogeneity in a series of 31 patients with IgM-related neuropathy, J Neurol Sci, 319, 75, 10.1016/j.jns.2012.05.012
Luigetti, 2013, Clinical–neurophysiological correlations in a series of patients with IgM-related neuropathy, Clin Neurophysiol, 124, 1899, 10.1016/j.clinph.2013.02.116
Merolli, 2013, Persistence of abnormal electrophysiological findings after carpal tunnel release, J Reconstr Microsurg, 29, 511, 10.1055/s-0033-1348038
Mouton, 1999, Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion, Neurology, 52, 1440, 10.1212/WNL.52.7.1440
Nobile-Orazio, 2000, Long-term prognosis of neuropathy associated with anti-MAG IgM M-proteins and its relationship to immune therapies, Brain, 123, 710, 10.1093/brain/123.4.710
Paprocka, 2006, Hereditary neuropathy with liability to pressure palsy, Folia Neuropathol, 44, 290
Pareyson, 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
Sessa, 1997, Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis, J Med Genet, 34, 889, 10.1136/jmg.34.11.889
Sommer, 2010, Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies, J Peripher Nerv Syst, 15, 164, 10.1111/j.1529-8027.2010.00276.x
Taioli, 2011, Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene, Brain, 134, 608, 10.1093/brain/awq374
Uncini, 1993, Sensitivity and specificity of diagnostic criteria for conduction block in chronic inflammatory demyelinating polyneuropathy, Electroencephalogr Clin Neurophysiol, 89, 161, 10.1016/0168-5597(93)90129-D
Vital, 2004, Peripheral nerve biopsy study in 19 cases with 17p11.2 deletion, J Neuropathol Exp Neurol, 63, 1167, 10.1093/jnen/63.11.1167