相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings
Luis F. Maia et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2015)
SELDI-TOF Mass Spectrometry Evaluation of Variant Transthyretins for Diagnosis and Pathogenesis of Familial Amyloidotic Polyneuropathy
Mitsuharu Ueda et al.
CLINICAL CHEMISTRY (2009)
Amyloidogenic transthyretin Val30Met homozygote showing unusually early-onset familial amyloid polyneuropathy
Kana Tojo et al.
MUSCLE & NERVE (2008)
Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome
G Holmgren et al.
JOURNAL OF MEDICAL GENETICS (2005)
Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis
K Jin et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2004)