L. Colleoni

Most-cited papers

1. A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

   R. Brugnoni, D. Kapetis, P. Imbrici, M. Pessia +10 more

   2013Journal of Human Genetics55 citations

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2. LMNA-associated myopathies

   L. Maggi, A. D'Amico, A. Pini, S. Sivo +26 more

   2014Neurology48 citations

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3. Inflammation and Epstein-Barr Virus Infection Are Common Features of Myasthenia Gravis Thymus: Possible Roles in Pathogenesis

   P. Cavalcante, L. Maggi, L. Colleoni, R. Caldara +6 more

   2011Autoimmune Diseases40 citations Open access

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4. VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis

   N. Avidan, R. Le Panse, H. Harbo, P. Bernasconi +24 more

   2014Annals of Clinical and Translational Neurology30 citations Open access

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5. A New Thiopurine S‐Methyltransferase Haplotype Associated With Intolerance to Azathioprine

   L. Colleoni, D. Kapetis, L. Maggi, G. Camera +8 more

   2013Journal of clinical pharmacology26 citations Open access

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6. Intrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable condition.

   A. Ardissone, V. Sansone, L. Colleoni, Pia Bernasconi +1 more

   2017Neuromuscular Disorders20 citations

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7. Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation

   V. Redaelli, E. Salsano, L. Colleoni, Paola Corbetta +4 more

   2018Journal of Alzheimer's Disease15 citations

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8. Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

   L. Maggi, R. Brugnoni, Eleonora Canioni, P. Tonin +27 more

   2020Frontiers in Neurology13 citations Open access

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9. Missense mutation in GRN gene affecting RNA splicing and plasma progranulin level in a family affected by frontotemporal lobar degeneration.

   S. Luzzi, L. Colleoni, Paola Corbetta, S. Baldinelli +7 more

   2017Neurobiology of Aging11 citations

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10. A novel ABCC6 haplotype is associated with azathioprine drug response in myasthenia gravis

    L. Colleoni, B. Galbardi, C. Barzago, S. Bonanno +11 more

    2017Pharmacogenetics & Genomics5 citations

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11. Central core disease and susceptibility to malignant hyperthermia in a single family

    L. Colleoni, G. Melli, L. Morandi, P. Cudia +3 more

    2009Journal of Neurology2 citations

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12. G.P.136

    Lorenzo Maggi, R. Brugnoni, L. Colleoni, D. Kapetis +16 more

    20141 citations

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13. G.P.137

    P. Imbrici, J. Desaphy, R. Brugnoni, L. Colleoni +8 more

    20140 citations

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14. Identification of predictive biomarkers for azathioprine treatment: a pharmacogenomics study on myastenia gravis therapy

    L. Colleoni, D. Kapetis, S. Franzi, Eleonora Canioni +8 more

    20130 citations

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15. Towards predictive pharmacogenetic profiling for azathioprine treatment: characterization of SNPs in relevant drug metabolism genes

    L. Colleoni, P. Bernasconi, A. Panerai

    20110 citations

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16. G.P.13.09 Identification of a point mutation in the skeletal muscle ryanodine receptor gene associated in the homozygous state to central core disease

    G. Melli, L. Colleoni, Pia Bernasconi, S. Romaggi +3 more

    20080 citations

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17. Trauma cranico non-accidentale in età pediatrica

    L. Pinelli, C. Ambrosi, L. Colleoni, S. Florio +6 more

    20030 citations

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