• 13479 Citations
  • 53 h-Index
1987 …2019
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Fingerprint Dive into the research topics where Giorgio Nevio Casari is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 1 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Hereditary Spastic Paraplegia Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Myoclonic Epilepsy Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Uromodulin Medicine & Life Sciences
Mitochondria Medicine & Life Sciences

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Research Output 1987 2019

  • 13479 Citations
  • 53 h-Index
  • 140 Article
Spinocerebellar Ataxias
Intellectual Disability
Pediatrics
Mutation
Ataxia

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

Tulli, S., Del Bondio, A., Baderna, V., Mazza, D., Codazzi, F., Pierson, T. M., Ambrosi, A., Nolte, D., Goizet, C., Toro, C., Baets, J., Deconinck, T., Dejonghe, P., Mandich, P., Casari, G. & Maltecca, F., Jan 1 2019, In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Haploinsufficiency
Mitochondrial Dynamics
Fibroblasts
Clustered Regularly Interspaced Short Palindromic Repeats
Spinocerebellar ataxia 28

m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics

Consolato, F., Maltecca, F., Tulli, S., Sambri, I. & Casari, G., 2018, In : Journal of Cell Science. 131, 7, jcs213546.

Research output: Contribution to journalArticle

Mitochondrial Dynamics
Peptide Hydrolases
Dynamins
Mitochondrial Diseases
GTP Phosphohydrolases
Exome
Annotation
DNA
Software
Databases
4 Citations (Scopus)

A TRAPPC6B splicing variant associates to restless legs syndrome

Aridon, P., De Fusco, M., Winkelmann, J. W., Zucconi, M., Arnao, V., Ferini-Strambi, L. & Casari, G., Oct 1 2016, In : Parkinsonism and Related Disorders. 31, p. 135-138 4 p.

Research output: Contribution to journalArticle

Exome
Restless Legs Syndrome
Chromosomes, Human, Pair 14
Mutation
Movement Disorders