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本文引用的文献
1
The structural basis of mode of activation and functional diversity: a case study with HtrA family of serine proteases.
Arch Biochem Biophys. 2011 Dec 15;516(2):85-96. doi: 10.1016/j.abb.2011.10.007. Epub 2011 Oct 18.
2
A novel mutation in the HTRA1 gene causes CARASIL without alopecia.
Neurology. 2011 Apr 12;76(15):1353-5. doi: 10.1212/WNL.0b013e318215281d.
3
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification.
J Stroke Cerebrovasc Dis. 2011 Mar-Apr;20(2):85-93. doi: 10.1016/j.jstrokecerebrovasdis.2010.11.008. Epub 2011 Jan 7.
4
A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population.
Neurology. 2010 Nov 30;75(22):2033-5. doi: 10.1212/WNL.0b013e3181ff96ac.
5
[Molecular pathogenesis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy].
Brain Nerve. 2010 Jun;62(6):595-9.
6
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.
N Engl J Med. 2009 Apr 23;360(17):1729-39. doi: 10.1056/NEJMoa0801560.
7
A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): clinical and radiological features.
J Clin Neurosci. 2009 Jun;16(6):847-9. doi: 10.1016/j.jocn.2008.08.031. Epub 2009 Mar 18.
8
Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome).
Neuropathology. 2003 Dec;23(4):327-34. doi: 10.1046/j.1440-1789.2003.00519.x.
9
Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension.
Eur Neurol. 1995;35(2):69-79. doi: 10.1159/000117096.
10
Familial unusual encephalopathy of Binswanger's type without hypertension.
Folia Psychiatr Neurol Jpn. 1976;30(2):165-77. doi: 10.1111/j.1440-1819.1976.tb00119.x.
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