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Publications by Federico Zara

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American Journal of Human Genetics

English

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

American Journal of Human Genetics

English

NovelGABRG2mutations Cause Familial Febrile Seizures

Neurology: Genetics

English

A Genome-Wide Association Study of Sodium Levels and Drug Metabolism in an Epilepsy Cohort Treated With Carbamazepine and Oxcarbazepine

English

Pitfalls in Genetic Testing: The Story of missedSCN1Amutations

Molecular genetics & genomic medicine

Molecular Biology

English

Migrating Focal Seizures in Autosomal Dominant Sleep-Related Hypermotor Epilepsy With KCNT1 Mutation

Seizure : the journal of the British Epilepsy Association

English

Familial Adult Myoclonic Epilepsy: A New Expansion Repeats Disorder

Seizure : the journal of the British Epilepsy Association

English

Caveolin-3 T78M and T78K Missense Mutations Lead to Different Phenotypes in Vivo and in Vitro

Laboratory Investigation

Forensic Medicine

Molecular Biology

English

Pharmacological Rescue of the Dystrophin-Glycoprotein Complex in Duchenne and Becker Skeletal Muscle Explants by Proteasome Inhibitor Treatment

American Journal of Physiology - Cell Physiology

English