His primary areas of investigation include Genetics, Endocrinology, Internal medicine, Molecular biology and Mitochondrion. His study in Gene, Locus, Allele, Mutation and Gene expression is done as part of Genetics. His work deals with themes such as Nicotinic agonist, Autosomal dominant nocturnal frontal lobe epilepsy, Nicotinic acetylcholine receptor, Familial hemiplegic migraine and Migraine, which intersect with Endocrinology.
Many of his research projects under Internal medicine are closely connected to Nephropathy with Nephropathy, tying the diverse disciplines of science together. His Molecular biology research includes themes of Protein subunit and Primary transcript, RNA splicing, Alternative splicing. Giorgio Casari combines subjects such as Neurodegeneration, PINK1 and Paraplegin, Hereditary spastic paraplegia with his study of Mitochondrion.
Giorgio Casari mostly deals with Genetics, Internal medicine, Locus, Endocrinology and Gene. His study in Genetic linkage, Missense mutation, Genetic heterogeneity, Chromosome and Mutation is carried out as part of his studies in Genetics. In the field of Internal medicine, his study on Migraine overlaps with subjects such as Gitelman syndrome.
His Locus research is multidisciplinary, relying on both Nephronophthisis, Allele, Age of onset, Essential hypertension and Candidate gene. Giorgio Casari has researched Endocrinology in several fields, including Receptor, Nicotinic agonist and Migraine with aura. His research investigates the connection between Gene and topics such as Molecular biology that intersect with problems in Alternative splicing and Hereditary spastic paraplegia.
His main research concerns Genetics, Missense mutation, Spinocerebellar ataxia, Cell biology and Mitochondrion. His study in Genetics concentrates on Gene, Locus, Exome sequencing, Allelic heterogeneity and Locus heterogeneity. In his research on the topic of Missense mutation, Compound heterozygosity and Epilepsy is strongly related with Mutant.
In his study, Oxidative phosphorylation is strongly linked to Oxidative stress, which falls under the umbrella field of Cell biology. The concepts of his Mitochondrion study are interwoven with issues in mitochondrial fusion, Haploinsufficiency, Paraplegin and Frameshift mutation. His study explores the link between Bioinformatics and topics such as Disease that cross with problems in Proband.
Disease, Immunology, Cell biology, Glutamate receptor and Pneumonia are his primary areas of study. His Disease study combines topics in areas such as Virus and Genetic variation. Giorgio Casari conducts interdisciplinary study in the fields of Immunology and Pneumonia through his research.
His GTPase, YME1L1 and Inner mitochondrial membrane study in the realm of Cell biology connects with subjects such as Protease. His Glutamate receptor study integrates concerns from other disciplines, such as Calcium signaling, Ataxia, Spinocerebellar ataxia, Depolarization and Mitochondrion. His work deals with themes such as Asymptomatic, Case-control study and Phenocopy, which intersect with Pneumonia.
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Guidelines for the use and interpretation of assays for monitoring autophagy
Daniel J. Klionsky;Fabio C. Abdalla;Hagai Abeliovich;Robert T. Abraham.
Autoantibodies against type I IFNs in patients with life-threatening COVID-19.
Paul Bastard;Paul Bastard;Paul Bastard;Lindsey B. Rosen;Qian Zhang;Eleftherios Michailidis.
Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg2+ Resorption
David B. Simon;Yin Lu;Yin Lu;Keith A. Choate;Keith A. Choate;Heino Velazquez.
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
Sekar Kathiresan;Benjamin F Voight;Shaun Purcell;Kiran Musunuru.
Nature Genetics (2009)
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.
Maurizio De Fusco;Roberto Marconi;Laura Silvestri;Luigia Atorino.
Nature Genetics (2003)
Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease
Giorgio Casari;Maurizio De Fusco;Sonia Ciarmatori;Massimo Zeviani.
Polymorphisms of α-adducin and salt sensitivity in patients with essential hypertension
Daniele Cusi;Cristina Barlassina;Tiziana Azzani;Giorgio Casari.
The Lancet (1997)
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy
De Fusco M;Becchetti A;Patrignani A;Annesi G.
Nature Genetics (2000)
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
Laura Silvestri;Viviana Caputo;Emanuele Bellacchio;Luigia Atorino.
Human Molecular Genetics (2005)
Two point mutations within the adducin genes are involved in blood pressure variation
G Bianchi;G Tripodi;G Casari;S Salardi.
Proceedings of the National Academy of Sciences of the United States of America (1994)
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