Daniele Galatolo
0000-0001-9402-2910
28 papers found
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The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families
Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families
STUB1 mutations mimicking spinocerebellar ataxia type 17 in two Italian families
SPG7 mutations explain a significant proportion of undiagnosed ataxia from Southern Italy
Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings
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