What is she best known for?
The fields of study she is best known for:
Cinzia Gellera mainly investigates Genetics, Amyotrophic lateral sclerosis, Mutation, Huntington's disease and Trinucleotide repeat expansion.
Her Genetics study frequently involves adjacent topics like Ataxia.
Her Ataxia research includes themes of Mitochondrion, Point mutation and Frataxin.
Her biological study spans a wide range of topics, including Gene and Exome.
In her study, Carnitine palmitoyltransferase II and Compound heterozygosity is strongly linked to Mutant, which falls under the umbrella field of Mutation.
Her studies in Trinucleotide repeat expansion integrate themes in fields like Neurodegeneration, Haplotype and Age of onset.
Her most cited work include:
- Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion (2181 citations)
- Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis (411 citations)
- The Friedreich's Ataxia Mutation Confers Cellular Sensitivity to Oxidant Stress Which Is Rescued by Chelators of Iron and Calcium and Inhibitors of Apoptosis (343 citations)
What are the main themes of her work throughout her whole career to date?
Her primary areas of study are Genetics, Amyotrophic lateral sclerosis, Pathology, Gene and Disease.
Her Genetics study frequently links to adjacent areas such as Ataxia.
In her study, Point mutation is inextricably linked to Frataxin, which falls within the broad field of Ataxia.
Her work focuses on many connections between Amyotrophic lateral sclerosis and other disciplines, such as Genome-wide association study, that overlap with her field of interest in Oncology and Bioinformatics.
Cinzia Gellera combines subjects such as Cerebellum, White matter, Central nervous system disease and Fasciculation with her study of Pathology.
Her work in Gene addresses subjects such as Molecular biology, which are connected to disciplines such as Mutant, Biochemistry and Carnitine palmitoyltransferase II.
She most often published in these fields:
- Genetics (45.24%)
- Amyotrophic lateral sclerosis (23.81%)
- Pathology (19.05%)
What were the highlights of her more recent work (between 2017-2021)?
- Epilepsy (8.93%)
- Genetics (45.24%)
- Disease (16.07%)
In recent papers she was focusing on the following fields of study:
Her scientific interests lie mostly in Epilepsy, Genetics, Disease, Amyotrophic lateral sclerosis and Allele.
Her Epilepsy research is multidisciplinary, relying on both Mutation, Pediatrics and Bioinformatics.
Cinzia Gellera is interested in Missense mutation, which is a field of Genetics.
The concepts of her Disease study are interwoven with issues in Pathological, Gene and Genome-wide association study.
Her studies deal with areas such as C9orf72, Frontotemporal dementia, Cognition and Neuron as well as Amyotrophic lateral sclerosis.
Cinzia Gellera has included themes like Penetrance and Spinocerebellar ataxia in her Allele study.
Between 2017 and 2021, her most popular works were:
- Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene (83 citations)
- ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function. (37 citations)
- Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy (26 citations)
In her most recent research, the most cited papers focused on:
Cinzia Gellera focuses on Epilepsy, Phenotype, Neuroscience, Genetics and Missense mutation.
The Epilepsy study combines topics in areas such as Quinidine, Encephalopathy, Bioinformatics, Mutation and Hippocampus.
Her Neuroscience research is multidisciplinary, incorporating perspectives in White matter lesion and Point mutation.
Her research related to Protein kinase domain, Kinase, Exome, Haploinsufficiency and TARDBP might be considered part of Genetics.
Her Missense mutation study combines topics from a wide range of disciplines, such as Optineurin, Epileptogenesis and Heterologous expression.
Her work carried out in the field of Gene brings together such families of science as Cancer research and Motor neuron.
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