Alfredo Brusco
Università degli Studi di Torino
112 papers found
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O056. Migraine as presenting symptom of SLC20A2gene mutations
Download from dx.doi.orgBlood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia
Download from www.researchgate.netAn atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2
Download from dx.doi.orgMessenger RNA processing is altered in autosomal dominant leukodystrophy†
Download from academic.oup.comLarge cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH
Download from dx.doi.orgTestis development in the absence of SRY: Chromosomal rearrangements at SOX9 and SOX3
Download from www.nature.comNovel mutation of SLC20A2 in an Italian patient presenting with migraine
Download from iris.unito.itELOVL5 Mutations Cause Spinocerebellar Ataxia 38
Download from www.ncbi.nlm.nih.govDefining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion
UploadModulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
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