Usefulness of exome sequencing in the study of spastic paraparesis and cerebellar atrophy: De novo mutation of the KIF1A gene, a new hope in prognosis
Neurologia (Engl Ed). 2020 Sep;35(7):535-538.
doi: 10.1016/j.nrl.2018.07.001.
Epub 2019 Mar 10.
[Article in
English,
Spanish]
Affiliations
- 1 Servicio de Neurología, Hospital Universitario de Getafe, Getafe, Madrid, España. Electronic address: sarai.urtiaga@gmail.com.
- 2 Servicio de Genética, Hospital Universitario de Getafe, Getafe, Madrid, España.
- 3 Servicio de Neurología, Hospital Universitario de Getafe, Getafe, Madrid, España.
No abstract available
MeSH terms
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Atrophy
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Cerebellar Diseases* / genetics
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Cerebellum / pathology
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Exome
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Genes, vif
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Humans
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Kinesins / genetics
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Mutation
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Paraparesis, Spastic* / genetics
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Prognosis
Substances
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KIF1A protein, human
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Kinesins