2023 - Research.com Neuroscience in Italy Leader Award
Federico Zara mainly investigates Epilepsy, Genetics, Mutation, Myoclonic epilepsy and Dravet syndrome. His biological study spans a wide range of topics, including Central nervous system disease, Pediatrics, Bioinformatics and Age of onset. Genetics connects with themes related to Juvenile myoclonic epilepsy in his study.
His Mutation research incorporates elements of Infantile seizures, Paroxysmal dyskinesia, Intellectual disability and Endocrinology. As a member of one scientific family, Federico Zara mostly works in the field of Genetic linkage, focusing on Gene mapping and, on occasion, Autosomal recessive cerebellar ataxia, Ataxia and Molecular biology. He combines subjects such as Point mutation and Breakpoint with his study of Locus.
Federico Zara spends much of his time researching Epilepsy, Genetics, Pediatrics, Mutation and Internal medicine. His Epilepsy research includes themes of Electroencephalography, Myoclonus and Bioinformatics. His studies deal with areas such as Benign adult familial myoclonic epilepsy and Neurological disorder as well as Myoclonus.
His research in Missense mutation, Phenotype, Gene, Locus and Genetic heterogeneity are components of Genetics. His Pediatrics research is multidisciplinary, incorporating elements of Psychiatry and Age of onset. His Internal medicine study combines topics from a wide range of disciplines, such as Gastroenterology and Endocrinology.
His scientific interests lie mostly in Epilepsy, Genetics, Phenotype, Missense mutation and Bioinformatics. His research integrates issues of Internal medicine, Cohort and Pediatrics in his study of Epilepsy. As part of the same scientific family, he usually focuses on Phenotype, concentrating on Sodium channel blocker and intersecting with Benign familial infantile epilepsy.
His studies examine the connections between Missense mutation and genetics, as well as such issues in Genetic testing, with regards to Genetic heterogeneity. His Bioinformatics research integrates issues from Lamotrigine, Mutation, Duchenne muscular dystrophy, Parkinsonism and Drug resistance. Federico Zara works mostly in the field of Pathology, limiting it down to concerns involving Mutation and, occasionally, Ataxia.
Federico Zara mostly deals with Epilepsy, Bioinformatics, Neuroscience, Phenotype and Pediatrics. He interconnects Internal medicine, Cohort and Autism spectrum disorder in the investigation of issues within Epilepsy. In the subject of general Phenotype, his work in Missense mutation and Conditional gene knockout is often linked to Synaptic vesicle recycling, thereby combining diverse domains of study.
The various areas that Federico Zara examines in his Pediatrics study include Lamotrigine, Ataxia, Levetiracetam and Electroencephalography. His Intron research entails a greater understanding of Genetics. His research in Genetics intersects with topics in Comorbidity and Myoclonic epilepsy.
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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Victoria Campuzano;Laura Montermini;Maria Dolores Moltò;Luigi Pianese.
Science (1996)
Analysis of shared heritability in common disorders of the brain
Verneri Anttila;Verneri Anttila;Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Hilary K. Finucane;Raymond K. Walters;Raymond K. Walters.
Science (2018)
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.
Carlo Minetti;Federica Sotgia;Claudio Bruno;Claudio Bruno;Paolo Scartezzini.
Nature Genetics (1998)
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada.
Brain (2017)
The genetics of Dravet syndrome
Carla Marini;Ingrid E. Scheffer;Ingrid E. Scheffer;Rima Nabbout;Arvid Suls.
Epilepsia (2011)
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
Samuel F. Berkovic;Sarah E. Heron;Lucio Giordano;Carla Marini.
Annals of Neurology (2004)
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
Rima Nabbout;E. Gennaro;B. Dalla Bernardina;O. Dulac.
Neurology (2003)
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation
Mainardi Pc;Perfumo C;Calì A;Coucourde G.
Journal of Medical Genetics (2001)
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
Bassel Abou-Khalil;Pauls Auce;Andreja Avbersek;Melanie Bahlo.
Nature Communications (2018)
Genetic testing in the epilepsies--report of the ILAE Genetics Commission.
Ruth Ottman;Shinichi Hirose;Satish Jain;Holger Lerche.
web science (2010)
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