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Does hereditary neuropathy with liability to pressure palsy predispose to schwannomatosis?

作者信息

Grapperon Aude-Marie, Franques Jérôme, Roche Pierre-Hugues, Battaglia Fabrice

机构信息

Centre de Référence des Maladies Neuromusculaires et de la SLA, Centre Hospitalier Universitaire de La Timone, Marseille, France.

Service de Neurochirurgie, Hôpital Nord, Marseille, France.

出版信息

J Clin Neurol. 2014 Oct;10(4):371-2. doi: 10.3988/jcn.2014.10.4.371. Epub 2014 Oct 6.

DOI:10.3988/jcn.2014.10.4.371
PMID:25324890
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4198722/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7ca/4198722/206bacf0920d/jcn-10-371-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7ca/4198722/206bacf0920d/jcn-10-371-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7ca/4198722/206bacf0920d/jcn-10-371-g001.jpg

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本文引用的文献

1
Hereditary neuropathy with liability to pressure palsy combined with suspected schwannomas of the peroneal and radial nerves.
J Neurol. 2012 May;259(5):977-9. doi: 10.1007/s00415-011-6287-3. Epub 2011 Oct 27.
2
Charcot-Marie-Tooth 1A concurrent with schwannomas of the spinal cord and median nerve.1型遗传性运动感觉神经病合并脊髓和正中神经神经鞘瘤
J Korean Med Sci. 2009 Aug;24(4):763-6. doi: 10.3346/jkms.2009.24.4.763. Epub 2009 Jul 30.
3
Germline mutation of INI1/SMARCB1 in familial schwannomatosis.家族性神经鞘瘤病中INI1/SMARCB1的种系突变
Am J Hum Genet. 2007 Apr;80(4):805-10. doi: 10.1086/513207. Epub 2007 Feb 16.
4
Hereditary neuropathy with liability to pressure palsy combined with schwannomas of the median and medial plantar nerves.
Muscle Nerve. 2007 Jan;35(1):122-4. doi: 10.1002/mus.20641.
5
Diagnostic criteria for schwannomatosis.神经鞘瘤病的诊断标准。
Neurology. 2005 Jun 14;64(11):1838-45. doi: 10.1212/01.WNL.0000163982.78900.AD.
6
Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.神经鞘瘤病中NF2肿瘤抑制基因的分子分析。
Am J Hum Genet. 1997 Dec;61(6):1293-302. doi: 10.1086/301633.
7
Studies on the effects of altered PMP22 expression during myelination in vitro.体外髓鞘形成过程中PMP22表达改变的影响研究。
J Neurosci Res. 1997 Apr 1;48(1):31-42. doi: 10.1002/(sici)1097-4547(19970401)48:1<31::aid-jnr3>3.0.co;2-f.
8
Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells.培养的施万细胞中周围髓磷脂蛋白PMP22的检测与处理
J Biol Chem. 1993 May 15;268(14):10372-9.
9
Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion.13个伴有压力性麻痹易感性的遗传性神经病家族与17号染色体p11.2缺失的临床、电生理及分子相关性研究
Neurology. 1995 Nov;45(11):2018-23. doi: 10.1212/wnl.45.11.2018.
10
Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects.易患压迫性麻痹的遗传性神经病。电生理和组织病理学方面
Brain. 1972;95(4):777-94. doi: 10.1093/brain/95.4.777.