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Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature
Anju Shukla
,
Priyanka Upadhyai
, Jhanvi Shah
, K. Neethukrishna
, Stephanie Bielas
, K. M. Girisha
*
*
Corresponding author for this work
Department of Medical Genetics, Kasturba Medical College, Manipal
Research output
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Contribution to journal
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Article
›
peer-review
25
Citations (Scopus)
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INIS
cerebellum
50%
children
50%
genes
100%
hearings
50%
losses
100%
mutations
100%
patients
100%
phenotype
50%
proteins
50%
reviews
100%
Pharmacology, Toxicology and Pharmaceutical Science
Ataxia
66%
Disease
66%
Hearing Impairment
33%
Hereditary Ataxia
33%
Intellectual Impairment
33%
Skeleton Malformation
33%
Spinocerebellar Degeneration
100%
Neuroscience
Ataxia
100%
Autophagy
33%
Cerebellum
33%
Missense Mutation
33%
Protein Conformation
33%
Purkinje Cell
33%
Spinocerebellar Ataxia
100%
Biochemistry, Genetics and Molecular Biology
Autophagy
50%
Autosomal Recessive Inheritance
100%
Mental Retardation
50%
Missense Mutation
50%
Protein Conformation
50%
Purkinje Cell
50%