期刊
NEUROLOGY
卷 84, 期 11, 页码 1174-1177出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0000000000001369
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资金
- CIHR Funding Source: Medline
- Medical Research Council [MC_UP_1501/2, MC_EX_UU_G1000902, MC_UP_1502/3, G0601943] Funding Source: Medline
- Wellcome Trust [096919, 101876/Z/13/Z, 101876, 096919Z/11/Z] Funding Source: Medline
- Wellcome Trust [101876/Z/13/Z] Funding Source: Wellcome Trust
- MRC [MC_EX_UU_G1000902, MC_UP_1502/3, G0601943] Funding Source: UKRI
- Action Medical Research [2063] Funding Source: researchfish
- Medical Research Council [MC_EX_UU_G1000902, G0601943, MC_UP_1502/3] Funding Source: researchfish
Late-onset ataxias are clinically and etiologically diverse. Patients rarely have defining clinical features, and many remain classified as idiopathic, despite extensive clinical, metabolic, and genetic investigations. Here we show that mutations in a gene known to cause hereditary spastic paraplegia (SPG7) are a major cause of unexplained ataxia presenting in mid-adult life.
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