S. Scapolan

Most-cited papers

1. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

   R. Biancheri, A. Falace, A. Tessa, M. Pedemonte +9 more

   2007Biochemical and Biophysical Research Communications - BBRC93 citations

   Semantic Scholar

   Save

2. Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

   Maria Margherita Mancardi, P. Striano, E. Gennaro, F. Madia +22 more

   2006Epilepsia58 citations Open access

   Semantic Scholar

   Save

3. Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT‐II deficiency

   M. Fanin, A. Anichini, D. Cassandrini, C. Fiorillo +9 more

   2012Clinical Genetics54 citations

   Semantic Scholar

   Save

4. Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions

   C. Trevisan, E. Pastorello, G. Tomelleri, L. Vercelli +4 more

   2008European Journal of Neurology48 citations Open access

   Semantic Scholar

   Save

5. Antimicrobial use and Pseudomonas aeruginosa susceptibility profile in a cystic fibrosis centre.

   G. Manno, M. Cruciani, L. Romano, S. Scapolan +3 more

   2005International Journal of Antimicrobial Agents46 citations

   Semantic Scholar

   Save

6. Progressive exercise intolerance associated with a new muscle‐restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene

   C. Bruno, F. Santorelli, S. Assereto, E. Tonoli +6 more

   2003Muscle and Nerve46 citations

   Semantic Scholar

   Save

7. Phenotypic characterization of hypomyelination and congenital cataract

   R. Biancheri, F. Zara, C. Bruno, A. Rossi +16 more

   2007Annals of Neurology44 citations

   Semantic Scholar

   Save

8. Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro

   M. Traverso, E. Gazzerro, S. Assereto, F. Sotgia +12 more

   2008Laboratory Investigation40 citations Open access

   Semantic Scholar

   Save

9. The arthrochalasia type of Ehlers–Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure

   C. Giunta, Céline Chambaz, M. Pedemonte, S. Scapolan +1 more

   2008American Journal of Medical Genetics. Part A35 citations Open access

   Semantic Scholar

   Save

10. POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

    R. Biancheri, E. Bertini, A. Falace, M. Pedemonte +12 more

    2006Archives of Neurology35 citations Open access

    Semantic Scholar

    Save

11. Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.

    C. Fiorillo, Giacomo Brisca, D. Cassandrini, S. Scapolan +11 more

    2013Biochemical and Biophysical Research Communications - BBRC34 citations

    Semantic Scholar

    Save

12. Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

    C. Fiorillo, F. Moro, G. Astrea, M. A. Morales +6 more

    2013Neuromuscular Disorders6 citations

    Semantic Scholar

    Save

13. G.P.8.08 Caveolin-3 T78K and T78M missense mutations lead to different phenotypes in vivo and in vitro

    M. Traverso, E. Gazzerro, S. Assereto, L. Giberti +9 more

    20070 citations

    Semantic Scholar

    Save

14. MYOPATHIC FORM OF VERY-LONG CHAIN ACYL-COA DEHYDROGENASE (VLCAD) DEFICIENCY DIAGNOSED BY BIOCHEMICAL AND GENETIC ANALYSIS FROM DRIED BLOOD SPOT. IDENTIFICATION OF TWO NOVEL MUTATIONS

    C. Bruno, S. Scapolan, D. Cassandrini, M. Cassanello +5 more

    20060 citations

    Semantic Scholar

    Save

15. Clinical and neuroradiological features in two patients with Leigh's syndrome and cytochrome c oxidase deficiency

    C. Bruno, A. Pessagno, A. Rossi, M. Pedemonte +6 more

    20030 citations

    Semantic Scholar

    Save