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Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.
Imbrici P, Accogli A, Blunck R, Altamura C, Iacomino M, D'adamo MC, Allegri A, Pedemonte M, Brolatti N, Vari S, Cataldi M, Capra V, Gustincich S, Zara F, Desaphy JF, Fiorillo C. Imbrici P, et al. Among authors: pedemonte m. Biomedicines. 2021 Jan 14;9(1):75. doi: 10.3390/biomedicines9010075. Biomedicines. 2021. PMID: 33466780 Free PMC article.
1st Italian SMA Family Association Consensus Meeting: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III, Rome, Italy, 30-31 January 2015.
Sansone VA, Racca F, Ottonello G, Vianello A, Berardinelli A, Crescimanno G, Casiraghi JL; Italian SMA Family Association. Sansone VA, et al. Neuromuscul Disord. 2015 Dec;25(12):979-89. doi: 10.1016/j.nmd.2015.09.009. Epub 2015 Sep 18. Neuromuscul Disord. 2015. PMID: 26453142 No abstract available.
Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment.
Assereto S, Stringara S, Sotgia F, Bonuccelli G, Broccolini A, Pedemonte M, Traverso M, Biancheri R, Zara F, Bruno C, Lisanti MP, Minetti C. Assereto S, et al. Among authors: pedemonte m. Am J Physiol Cell Physiol. 2006 Feb;290(2):C577-82. doi: 10.1152/ajpcell.00434.2005. Epub 2005 Sep 28. Am J Physiol Cell Physiol. 2006. PMID: 16192300 Free article.
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.
Traverso M, Gazzerro E, Assereto S, Sotgia F, Biancheri R, Stringara S, Giberti L, Pedemonte M, Wang X, Scapolan S, Pasquini E, Donati MA, Zara F, Lisanti MP, Bruno C, Minetti C. Traverso M, et al. Among authors: pedemonte m. Lab Invest. 2008 Mar;88(3):275-83. doi: 10.1038/labinvest.3700713. Epub 2008 Feb 4. Lab Invest. 2008. PMID: 18253147 Free article.
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM. Biancheri R, et al. Among authors: pedemonte m. J Neurol. 2013 Jul;260(7):1866-70. doi: 10.1007/s00415-013-6896-0. Epub 2013 Apr 7. J Neurol. 2013. PMID: 23564332
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.
Biancheri R, Lamantea E, Severino M, Diodato D, Pedemonte M, Cassandrini D, Ploederl A, Trucco F, Fiorillo C, Minetti C, Santorelli FM, Zeviani M, Bruno C. Biancheri R, et al. Among authors: pedemonte m. JIMD Rep. 2015;23:85-9. doi: 10.1007/8904_2015_434. Epub 2015 Apr 9. JIMD Rep. 2015. PMID: 25854774 Free PMC article.
134 results