Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (deltaVal 122) presenting with carpal tunnel syndrome.
作者信息
Munar-Qués M, Saraiva M J, Ordeig-Calonge J, Moreira P, Pérez-Vidal R, Puig-Pujol X, Monells-Abel J, Badal-Alter J M
出版信息
Clin Genet. 2000 Nov;58(5):411-2. doi: 10.1034/j.1399-0004.2000.580515.x.
Abstract
摘要
相似文献
1
Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (deltaVal 122) presenting with carpal tunnel syndrome.一个患有转甲状腺素蛋白缺失（δVal 122）的西班牙家族中的家族性淀粉样多神经病，表现为腕管综合征。
Clin Genet. 2000 Nov;58(5):411-2. doi: 10.1034/j.1399-0004.2000.580515.x.
2
Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).两个德裔美国家庭中的淀粉样多神经病：一种新的转甲状腺素蛋白变体（Val 107）
J Med Genet. 1994 May;31(5):416-7. doi: 10.1136/jmg.31.5.416.
3
Carpal tunnel syndrome as an initial manifestation in a case of transthyretin-related familial amyloid polyneuropathy with a novel A120T mutation.以腕管综合征为首发表现的转甲状腺素蛋白相关家族性淀粉样多神经病病例，伴有新型A120T突变
Clin Neurol Neurosurg. 2012 Jul;114(6):707-9. doi: 10.1016/j.clineuro.2011.11.030. Epub 2011 Dec 30.
4
A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.一种与家族性淀粉样多神经病相关的新型转甲状腺素蛋白变体（丝氨酸24）
J Med Genet. 1995 Apr;32(4):279-81. doi: 10.1136/jmg.32.4.279.
5
Transthyretin mutation (serine 84) associated with familial amyloid polyneuropathy in a Hungarian family.与匈牙利一个家族中的家族性淀粉样多神经病相关的转甲状腺素蛋白突变（丝氨酸84）
Amyloid. 1998 Mar;5(1):30-4. doi: 10.3109/13506129809007287.
6
Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family.与一个法国家族中的家族性淀粉样多神经病相关的转甲状腺素蛋白突变（TTR Gly47Ala）
Amyloid. 2002 Dec;9(4):272-5. doi: 10.3109/13506120209114106.
7
Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.转甲状腺素蛋白ALA 71：西班牙一个患有家族性淀粉样多神经病的家族中的一种新型转甲状腺素蛋白变体
Hum Mutat. 1993;2(5):420-1. doi: 10.1002/humu.1380020516.
8
Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy.以上肢周围神经病为首发表现的 ATTR Val30Met 家族性淀粉样多发性神经病，如腕管综合征。
Amyloid. 2010 Mar;17(1):32-5. doi: 10.3109/13506121003619369.
9
Amyloid and peripheral nervous system disease.淀粉样蛋白与周围神经系统疾病
Clin Neurol Neurosurg. 1994 Feb;96(1):1-9. doi: 10.1016/0303-8467(94)90022-1.
10
Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy.意大利一家患有家族性淀粉样多神经病的转甲状腺素蛋白Met30突变的分子诊断
FEBS Lett. 1995 Feb 13;359(2-3):203-5. doi: 10.1016/0014-5793(95)00046-c.
引用本文的文献
1
Pathophysiology, Diagnosis, Treatment, and Genetics of Carpal Tunnel Syndrome: A Review.腕管综合征的病理生理学、诊断、治疗和遗传学：综述。
Cell Mol Neurobiol. 2023 Jul;43(5):1817-1831. doi: 10.1007/s10571-022-01297-2. Epub 2022 Oct 10.
2
Update on the clinical utility of an RNA interference-based treatment: focus on Patisiran.基于RNA干扰的治疗的临床效用最新进展：聚焦于帕替拉韦钠。
Pharmgenomics Pers Med. 2017 Nov 10;10:267-278. doi: 10.2147/PGPM.S87945. eCollection 2017.
Zotero 插件