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本文引用的文献
1
Early familial cerebellar degeneration; report of 3 cases in one family.
J Nerv Ment Dis. 1950 May;111(5):398-407.
2
Evaluation of familial biochemically determined mental retardation in children, with special reference to aminoaciduria.
N Engl J Med. 1960 Mar 31;262:658-65. doi: 10.1056/NEJM196003312621305.
3
Unusual form of cerebellar ataxia with sex-linked inheritance.
Neurology. 1958 Apr;8(4):261-6. doi: 10.1212/wnl.8.4.261.
4
[2 Cases of cerebellar hypoplasia in the same family].
Arch Fr Pediatr. 1957;14(5):449-60.
5
Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.
Neurology. 1969 Sep;19(9):813-25. doi: 10.1212/wnl.19.9.813.
6
Symmetrical hypogenesis of the cerebellum.
Acta Neurol Scand. 1970;46(4):642-7. doi: 10.1111/j.1600-0404.1970.tb05820.x.
7
The dysequilibrium syndrome. A genetic study.
Neuropadiatrie. 1973 Dec;4(4):403-13. doi: 10.1055/s-0028-1091756.
8
Autosomal recessive non-progressive ataxia with an early childhood debut.
Acta Neurol Scand. 1985 Apr;71(4):295-302. doi: 10.1111/j.1600-0404.1985.tb03203.x.
9
Autosomal recessive congenital cerebellar hypoplasia.
Clin Genet. 1985 Apr;27(4):373-82. doi: 10.1111/j.1399-0004.1985.tb02279.x.
10
Congenital hydrocephalus and cerebellar agenesis.
Clin Genet. 1978 May;13(5):443-7. doi: 10.1111/j.1399-0004.1978.tb04143.x.
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