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1
Hereditary ataxia; a survey of certain clinical, pathologic and genetic features with linkage data on five additional hereditary factors.
Am J Hum Genet. 1951 Jun;3(2):93-110.
2
Hereditary spastic paraplegia and hereditary ataxia: a family demonstrating a variety of phenotypic manifestations.
AMA Arch Neurol Psychiatry. 1951 Sep;66(3):346-54. doi: 10.1001/archneurpsyc.1951.02320090095008.
3
Hereditary ataxia. Linkage studies in hereditary ataxia.
Ann Hum Genet. 1961 May;25:7-23. doi: 10.1111/j.1469-1809.1961.tb01492.x.
4
Hereditary spino-cerebellar ataxia in a large Brazilian kindred.
Acta Genet Med Gemellol (Roma). 1960 Jul;9:334-43. doi: 10.1017/s1120962300017418.
5
[Clinical and genetic analysis of 188 families with spinocerebellar degeneration. Friedreich's disease and P. Marie's hereditary ataxias].
Rev Neurol (Paris). 1991;147(12):798-808.
6
Connections between neural muscle atrophy and hereditary ataxia (Friedreich).
Med Klin. 1955 Apr 15;50(15):638-40.
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Hereditary ataxia; difference between progeny of male and female affected members and a definition of certain signs useful in detecting the disease prior to onset of clinical symptoms.
AMA Arch Neurol Psychiatry. 1953 Aug;70(2):169-79.
8
Retinal degeneration in hereditary ataxia.
J Neurol Neurosurg Psychiatry. 1956 Aug;19(3):186-93. doi: 10.1136/jnnp.19.3.186.
9
Molecular genetic diagnosis of Friedreich's ataxia in a pedigree with apparent autosomal dominant spinocerebellar degeneration.
J Neurol Neurosurg Psychiatry. 1999 Jan;66(1):117-8. doi: 10.1136/jnnp.66.1.117a.
10
[HEREDITARY ATAXIA WITH UNUSUALLY MARKED SPASTIC FACTORS, WITH SPECIAL REFERENCE TO ITS RELATION TO HEREDITARY SPASTIC SPINAL PARALYSIS].
Seishin Shinkeigaku Zasshi. 1963 Sep;65:763-77.
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A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.
Cerebellum. 2018 Jun;17(3):276-285. doi: 10.1007/s12311-017-0893-2.
2
Blood-group studies in Friedreich's ataxia.
Br Med J. 1961 Mar 25;1(5229):868-70. doi: 10.1136/bmj.1.5229.868.
3
Clinical aspects of CAG repeat diseases.
Brain Pathol. 1997 Jul;7(3):881-900. doi: 10.1111/j.1750-3639.1997.tb00892.x.
本文引用的文献
1
Estimation of linkage in Rucker's pedigree of nystagmus and colorblindness.
Am J Hum Genet. 1949 Sep;1(1):55-65.
2
A New Human Hereditary Blood Property (Cellano) Present in 99.8% of all Bloods.
Science. 1949 May 6;109(2836):464-6. doi: 10.1126/science.109.2836.464.
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