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Publications by Cinzia Gellera

SETX Mutations Are a Frequent Genetic Cause of Juvenile and Adult Onset Cerebellar Ataxia With Neuropathy and Elevated Serum Alpha-Fetoprotein

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2013English

Progressive Myoclonus Epilepsy Caused by a Gain-Of-Function KCNA2 Mutation

Seizure : the journal of the British Epilepsy Association
MedicineNeurology
2019English

A Simple Multiplex Real-Time PCR Methodology for theSMN1Gene Copy Number Quantification

Genetic Testing and Molecular Biomarkers
MedicineGenetics
2009English

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Sequencing Studies in Human Genetics: Design and Interpretation

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