Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review.
作者信息
Nicholson G
出版信息
J Neurol Neurosurg Psychiatry. 1995 May;58(5):523-5. doi: 10.1136/jnnp.58.5.523.
Abstract
摘要
相似文献
1
Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review.遗传性运动和感觉神经病中的髓磷脂基因剂量与突变：综述
J Neurol Neurosurg Psychiatry. 1995 May;58(5):523-5. doi: 10.1136/jnnp.58.5.523.
2
Diagnosis of gene dosage alterations at the PMP22 gene using MAPH.使用MAPH对PMP22基因的基因剂量改变进行诊断。
J Med Genet. 2003 Nov;40(11):e123. doi: 10.1136/jmg.40.11.e123.
3
Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.遗传性运动感觉神经病1A型（CMT1A）重复患者中无周围髓鞘蛋白22（PMP22）编码区突变：支持基因剂量作为1A型夏科-马里-图斯病发病机制的进一步证据。
Hum Mutat. 1996;8(4):362-5. doi: 10.1002/(SICI)1098-1004(1996)8:4<362::AID-HUMU10>3.0.CO;2-0.
4
5
Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.
Pediatr Res. 1999 Feb;45(2):159-65. doi: 10.1203/00006450-199902000-00001.
6
Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.斯洛伐克患有夏科-马里-图斯病和易患压迫性麻痹的遗传性神经病患者的外周髓鞘蛋白22（PMP22）突变分析
Gen Physiol Biophys. 2011 Dec;30(4):379-88. doi: 10.4149/gpb_2011_04_379.
7
Molecular genetics of inherited peripheral neuropathies: who are the actors?遗传性周围神经病的分子遗传学：相关因素有哪些？
Acta Neurol Belg. 2000 Sep;100(3):171-80.
8
[Molecular pathology of Charcot-Marie-Tooth disease type 1A: abnormal expression of PMP-22].1A型遗传性运动感觉神经病的分子病理学：外周髓鞘蛋白22的异常表达
Rinsho Shinkeigaku. 1995 Dec;35(12):1441-3.
9
Cochlear implantation in a patient with deafness induced by Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathies).为一名患有夏科-马里-图思病（遗传性运动和感觉神经病）所致耳聋的患者植入人工耳蜗。
J Laryngol Otol. 2006 Jun;120(6):508-10. doi: 10.1017/S0022215106000727.
10
Genetic aspects of Charcot-Marie-Tooth disease.夏科-马里-图思病的遗传学方面
Arch Dis Child. 1998 Apr;78(4):296-300. doi: 10.1136/adc.78.4.296.
引用本文的文献
1
Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses.脑干听觉诱发电位显示X连锁型夏科-马里-图斯病性神经病的中枢传导减慢。
J Neurol Neurosurg Psychiatry. 1996 Jul;61(1):43-6. doi: 10.1136/jnnp.61.1.43.
本文引用的文献
1
Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.1A型夏科-马里-图斯病。与周围髓鞘蛋白22基因的自发点突变相关。
N Engl J Med. 1993 Jul 8;329(2):96-101. doi: 10.1056/NEJM199307083290205.
2
DNA deletion associated with hereditary neuropathy with liability to pressure palsies.与遗传性压力易感性周围神经病相关的DNA缺失。
Cell. 1993 Jan 15;72(1):143-51. doi: 10.1016/0092-8674(93)90058-x.
3
Screening of dominantly inherited Charcot-Marie-Tooth neuropathies.显性遗传性夏科-马里-图思神经病的筛查
Muscle Nerve. 1993 Nov;16(11):1232-8. doi: 10.1002/mus.880161114.
4
Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathy type Ia.常染色体显性遗传性运动和感觉神经病变Ia型的诊断标准。
Neuromuscul Disord. 1993 Jan;3(1):77-9. doi: 10.1016/0960-8966(93)90045-l.
5
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.与外周髓鞘蛋白22（PMP22）基因突变相关的Dejerine-Sottas综合征。
Nat Genet. 1993 Nov;5(3):269-73. doi: 10.1038/ng1193-269.
6
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.常染色体隐性遗传性夏科-马里-图斯病的一个基因座（CMT4A）与8号染色体长臂的连锁关系。
Hum Mol Genet. 1993 Oct;2(10):1625-8. doi: 10.1093/hmg/2.10.1625.
7
Connexin mutations in X-linked Charcot-Marie-Tooth disease.X连锁型夏科-马里-图斯病中的连接蛋白突变
Science. 1993 Dec 24;262(5142):2039-42. doi: 10.1126/science.8266101.
8
Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families.中等神经传导速度可界定X连锁型夏科-马里-图斯病神经病变家系。
Neurology. 1993 Dec;43(12):2558-64. doi: 10.1212/wnl.43.12.2558.
9
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.1A型夏科-马里-图斯病中PMP22隐性点突变的证据。
Nat Genet. 1993 Oct;5(2):189-94. doi: 10.1038/ng1093-189.
10
Zotero 插件