What is he best known for?
The fields of study he is best known for:
Giovanni Stevanin mainly investigates Genetics, Spinocerebellar ataxia, Trinucleotide repeat expansion, Autosomal dominant cerebellar ataxia and Hereditary spastic paraplegia.
His work is connected to Locus, Mutation, Gene, Genetic heterogeneity and Phenotype, as a part of Genetics.
His Locus research is multidisciplinary, incorporating perspectives in Genetic linkage and Gene mapping.
His studies in Spinocerebellar ataxia integrate themes in fields like Cerebellar ataxia, Germline mosaicism and Age of onset.
He has included themes like Neurodegeneration and Macular dystrophy in his Autosomal dominant cerebellar ataxia study.
His Hereditary spastic paraplegia research includes themes of Missense mutation and Proband.
His most cited work include:
- Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats (745 citations)
- Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats (745 citations)
- Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion (655 citations)
What are the main themes of his work throughout his whole career to date?
Giovanni Stevanin focuses on Genetics, Spinocerebellar ataxia, Hereditary spastic paraplegia, Gene and Cerebellar ataxia.
His research investigates the connection with Genetics and areas like Ataxia which intersect with concerns in Cerebellum.
His work carried out in the field of Spinocerebellar ataxia brings together such families of science as Ataxin 7, Autosomal dominant cerebellar ataxia, Trinucleotide repeat expansion and Age of onset.
His work in Hereditary spastic paraplegia addresses issues such as Exome sequencing, which are connected to fields such as Sanger sequencing.
The concepts of his Cerebellar ataxia study are interwoven with issues in Internal medicine and Pathology.
His studies deal with areas such as Linkage disequilibrium, Haplotype and Gene mapping as well as Locus.
He most often published in these fields:
- Genetics (88.50%)
- Spinocerebellar ataxia (33.63%)
- Hereditary spastic paraplegia (31.86%)
What were the highlights of his more recent work (between 2015-2021)?
- Genetics (88.50%)
- Hereditary spastic paraplegia (31.86%)
- Exome sequencing (14.75%)
In recent papers he was focusing on the following fields of study:
His scientific interests lie mostly in Genetics, Hereditary spastic paraplegia, Exome sequencing, Phenotype and Cerebellar ataxia.
His research brings together the fields of Ataxia and Genetics.
His Hereditary spastic paraplegia research is multidisciplinary, relying on both Amyotrophic lateral sclerosis, Neuroscience, Pediatrics and Spasticity.
His Exome sequencing research includes elements of Sanger sequencing and Candidate gene.
His Phenotype research is multidisciplinary, incorporating elements of HEK 293 cells and Juvenile onset.
The study incorporates disciplines such as Internal medicine, Mitochondrion and Pathology in addition to Cerebellar ataxia.
Between 2015 and 2021, his most popular works were:
- DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases. (114 citations)
- A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. (52 citations)
- Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans (51 citations)
In his most recent research, the most cited papers focused on:
Giovanni Stevanin mostly deals with Genetics, Neuroscience, Amyotrophic lateral sclerosis, Phenotype and Hereditary spastic paraplegia.
He has researched Genetics in several fields, including Bioinformatics and Age of onset.
His work on Motor neuron, Corpus callosum, Spinal cord and Medulla oblongata as part of his general Neuroscience study is frequently connected to Spastic, thereby bridging the divide between different branches of science.
His research in Phenotype intersects with topics in Juvenile onset, UBQLN2, Frontotemporal dementia and Parkinson's disease.
His research investigates the link between Hereditary spastic paraplegia and topics such as Spasticity that cross with problems in Neurology, Spastic Paraplegias, Lysosome, Genetic heterogeneity and Gene.
His Spinocerebellar ataxia study combines topics from a wide range of disciplines, such as Cerebellar ataxia, Genome-wide association study, Single-nucleotide polymorphism and DNA mismatch repair.
This overview was generated by a machine learning system which analysed the scientist’s
body of work. If you have any feedback, you can
contact us
here.
