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A linkage study of hereditary ataxias and related disorders. Evidence of heterogeneity of dominant cerebellar ataxia.

作者信息

Pedersen L, Platz P, Ryder L P, Lamm L U, Dissing J

出版信息

Hum Genet. 1980;54(3):371-83. doi: 10.1007/BF00291585.

DOI:10.1007/BF00291585
PMID:6772543
Abstract
摘要

相似文献

1
A linkage study of hereditary ataxias and related disorders. Evidence of heterogeneity of dominant cerebellar ataxia.遗传性共济失调及相关疾病的连锁研究。显性小脑共济失调异质性的证据。
Hum Genet. 1980;54(3):371-83. doi: 10.1007/BF00291585.
2
Hereditary ataxias. Occurrence and clinical features.遗传性共济失调。发病率及临床特征。
Acta Neurol Scand Suppl. 1986;106:1-124.
3
Nosology, genetics, and epidemiology of hereditary ataxias, with particular reference to the epidemiology to these disorders in western Norway.遗传性共济失调的疾病分类学、遗传学和流行病学,特别提及挪威西部这些疾病的流行病学。
Adv Neurol. 1978;19:497-508.
4
Neurological approaches to the inherited ataxias.遗传性共济失调的神经学研究方法。
Adv Neurol. 1978;21:1-13.
5
Hereditary ataxia and the sixth chromosome.遗传性共济失调与第六条染色体
Arch Neurol. 1981 Mar;38(3):158-64. doi: 10.1001/archneur.1981.00510030052007.
6
Computerized tomography in hereditary ataxias.遗传性共济失调的计算机断层扫描
Acta Neurol Scand. 1978 Aug;58(2):81-8. doi: 10.1111/j.1600-0404.1978.tb02864.x.
7
Computed tomography in hereditary ataxias.遗传性共济失调的计算机断层扫描
Neuroradiology. 1978;16:327-8. doi: 10.1007/BF00395291.
8
Hereditary neurologic disorders, characterized by ataxia. Immunological in vitro parameters and HLA.以共济失调为特征的遗传性神经疾病。免疫学体外参数与人类白细胞抗原。
Acta Pathol Microbiol Scand C. 1980 Dec;88(6):281-6.
9
Linkage studies on glyoxalase I (GLO), pepsinogen (PG), spinocerebellar ataxia (SCA1), and HLA.乙二醛酶I(GLO)、胃蛋白酶原(PG)、脊髓小脑共济失调(SCA1)与人类白细胞抗原(HLA)的连锁研究。
Cytogenet Cell Genet. 1980;28(3):145-50. doi: 10.1159/000131524.
10
[Clinical and genetic analysis of 188 families with spinocerebellar degeneration. Friedreich's disease and P. Marie's hereditary ataxias].188例脊髓小脑变性、弗里德赖希共济失调及玛丽遗传性共济失调家系的临床与遗传学分析
Rev Neurol (Paris). 1991;147(12):798-808.

引用本文的文献

1
Clinical study of large kindreds with autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) of late onset.
Ital J Neurol Sci. 1993 Jan;14(1):17-21. doi: 10.1007/BF02339038.
2
Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region.确认SCA - 2基因座是显性遗传性脊髓小脑共济失调的另一个基因座,并对候选区域进行细化。
Am J Hum Genet. 1994 May;54(5):774-81.
3
Molecular heterogeneity of autosomal dominant cerebellar ataxia: analysis of flanking microsatellites of the spinocerebellar ataxia 1 locus in a northern European family unequivocally demonstrates non-linkage.常染色体显性遗传性小脑共济失调的分子异质性:对一个北欧家族中脊髓小脑共济失调1型基因座侧翼微卫星的分析明确显示不存在连锁关系。

本文引用的文献

1
The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type.椭圆形红细胞增多症基因与Rh血型之间连锁关系的检测与评估。
Am J Hum Genet. 1956 Jun;8(2):80-96.
2
Hereditary ataxia in a large Danish pedigree.丹麦一个大家族中的遗传性共济失调。
Clin Genet. 1980 Jun;17(6):385-93. doi: 10.1111/j.1399-0004.1980.tb00168.x.
3
Hereditary neurologic disorders, characterized by ataxia. Immunological in vitro parameters and HLA.以共济失调为特征的遗传性神经疾病。免疫学体外参数与人类白细胞抗原。
Hum Genet. 1993 May;91(4):362-6. doi: 10.1007/BF00217357.
4
Linkage investigations in two families with hereditary ataxia.对两个遗传性共济失调家族的连锁研究。
J Neurol Neurosurg Psychiatry. 1981 Jun;44(6):516-22. doi: 10.1136/jnnp.44.6.516.
5
Linkage between late onset, dominant spinocerebellar ataxia and HLA.迟发性显性脊髓小脑共济失调与人类白细胞抗原之间的连锁关系。
Hum Genet. 1984;66(1):85-9. doi: 10.1007/BF00275192.
6
HLA-linked and unlinked determinants of multiple sclerosis.多发性硬化症的HLA连锁和非连锁决定因素。
Immunogenetics. 1982;15(5):509-17. doi: 10.1007/BF00345910.
7
A distinct dysmorphic syndrome with spinocerebellar ataxia and probable autosomal recessive inheritance.一种具有脊髓小脑共济失调且可能为常染色体隐性遗传的独特畸形综合征。
Hum Genet. 1985;69(3):243-5. doi: 10.1007/BF00293033.
8
Linkage studies of Friedreich ataxia by means of blood-group and protein markers.利用血型和蛋白质标记对弗里德赖希共济失调进行连锁研究。
Am J Hum Genet. 1987 Oct;41(4):627-34.
9
Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6.
Am J Hum Genet. 1987 Oct;41(4):524-31.
10
Hereditary cerebellar ataxia and genetic linkage with HLA.
Hum Genet. 1986 Apr;72(4):327-32. doi: 10.1007/BF00290959.
Acta Pathol Microbiol Scand C. 1980 Dec;88(6):281-6.
4
Family studies of complement C4 and HLA in man.人类补体C4和HLA的家系研究。
Hum Genet. 1981;58(3):260-7. doi: 10.1007/BF00294919.
5
[On the temporal transformation of abiotrophic phenotypes. From a heredoataxia to an ulcero-mutilating acropathy].[关于非生物营养表型的时间转变。从遗传性共济失调到溃疡性致残性肢端病]
Psychiatr Neurol Neurochir. 1967 Jul-Aug;70(4):281-304.
6
Letter: Hereditary ataxia and HL-A genotypes.信函:遗传性共济失调与HL-A基因型。
N Engl J Med. 1974 Jul 18;291(3):154-5. doi: 10.1056/NEJM197407182910314.
7
The relation of parental sex and age to recombination in the HL-A system.父母的性别和年龄与组织相容性抗原(HL-A)系统中重组的关系。
Hum Hered. 1973;23(3):197-205. doi: 10.1159/000152574.
8
Spinocerebellar ataxia: study of a large kindred. I. General information and genetics.
Neurology. 1972 Oct;22(10):1040-3. doi: 10.1212/wnl.22.9.1040.
9
Genetic and clinical aspects of Charcot-Marie-Tooth's disease.夏科-马里-图思病的遗传学与临床特征
Clin Genet. 1974;6(2):98-118. doi: 10.1111/j.1399-0004.1974.tb00638.x.
10
Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.人类家系中重组率的估计:人类连锁研究似然性的高效计算。
Am J Hum Genet. 1974 Sep;26(5):588-97.