Giorgio Casari

Overview

Best Publications

• Guidelines for the use and interpretation of assays for monitoring autophagy

  Daniel J. Klionsky;Fabio C. Abdalla;Hagai Abeliovich;Robert T. Abraham

  8665
  Citations

• 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

  2660
  Citations

• 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

  1287
  Citations

• 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

  1232
  Citations

• 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

  1166
  Citations

• Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

  Giorgio Casari;Maurizio De Fusco;Sonia Ciarmatori;Massimo Zeviani

  980
  Citations

• The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy

  De Fusco M;Becchetti A;Patrignani A;Annesi G

  558
  Citations

• Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

  Laura Silvestri;Viviana Caputo;Emanuele Bellacchio;Luigia Atorino

  552
  Citations

• De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

  Erin L Heinzen;Kathryn J Swoboda;Yuki Hitomi;Fiorella Gurrieri

  457
  Citations

• X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.

  Takaki Asano;Bertrand Boisson;Bertrand Boisson;Bertrand Boisson;Fanny Onodi;Daniela Matuozzo;Daniela Matuozzo

  403
  Citations

• Two point mutations within the adducin genes are involved in blood pressure variation

  G Bianchi;G Tripodi;G Casari;S Salardi

  369
  Citations

• In search of antisense.

  Giovanni Lavorgna;Dvir Dahary;Ben Lehner;Rotem Sorek

  367
  Citations

• Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

  Fatima Ferreirinha;Angelo Quattrini;Marinella Pirozzi;Valentina Valsecchi

  358
  Citations

• Autosomal dominant restless legs syndrome maps on chromosome 14q.

  Maria Teresa Bonati;Luigi Ferini-Strambi;Paolo Aridon;Alessandro Oldani

  348
  Citations

• Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia

  Eleonora Lamantea;Valeria Tiranti;Andreina Bordoni;Antonio Toscano

  333
  Citations

• Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

  Luigia Atorino;Laura Silvestri;Mirko Koppen;Laura Cassina

  315
  Citations

• The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy.

  S Michiorri;S Michiorri;V Gelmetti;E Giarda;F Lombardi

  293
  Citations

• Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear

  Paolo Aridon;Carla Marini;Chiara Di Resta;Elisa Brilli

  291
  Citations

• Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

  Luca Rampoldi;Gianluca Caridi;Daniela Santon;Francesca Boaretto

  252
  Citations

• Human tenascin: primary structure, pre-mRNA splicing patterns and localization of the epitopes recognized by two monoclonal antibodies

  Annalisa Siri;Barbara Carnemolla;Marco Saginati;Alessandra Leprini

  240
  Citations