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Novel TRIM32 mutation in sarcotubular myopathy.
Panicucci C, Traverso M, Baratto S, Romeo C, Iacomino M, Gemelli C, Tagliafico A, Broda P, Zara F, Bruno C, Minetti C, Fiorillo C. Panicucci C, et al. Among authors: broda p. Acta Myol. 2019 Mar 1;38(1):8-12. eCollection 2019 Mar. Acta Myol. 2019. PMID: 31309175 Free PMC article.
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.
Iacomino M, Fiorillo C, Torella A, Severino M, Broda P, Romano C, Falsaperla R, Pozzolini G, Minetti C, Striano P, Nigro V, Zara F. Iacomino M, et al. Among authors: broda p. Eur J Paediatr Neurol. 2018 May;22(3):541-543. doi: 10.1016/j.ejpn.2017.12.005. Epub 2017 Dec 18. Eur J Paediatr Neurol. 2018. PMID: 29307700
Distal motor neuropathy associated with novel EMILIN1 mutation.
Iacomino M, Doliana R, Marchese M, Capuano A, Striano P, Spessotto P, Bosisio G, Iodice R, Manganelli F, Lanteri P, Orsini A, Baldassari S, Baratto S, Fruscione F, Prada V, Broda P, Tessa A, Bertocci G, Schenone A, Colombatti A, Minetti C, Santorelli FM, Zara F, Fiorillo C. Iacomino M, et al. Among authors: broda p. Neurobiol Dis. 2020 Apr;137:104757. doi: 10.1016/j.nbd.2020.104757. Epub 2020 Jan 21. Neurobiol Dis. 2020. PMID: 31978608 Free article.
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome.
Veneruso M, Fiorillo C, Broda P, Baratto S, Traverso M, Donati A, Savasta S, Falsaperla R, Mancardi MM, Pedemonte M, Panicucci C, Piatelli G, Pacetti M, Moscatelli A, Ramenghi LA, Nobili L, Minetti C, Bruno C. Veneruso M, et al. Among authors: broda p. Front Neurol. 2021 Oct 5;12:735488. doi: 10.3389/fneur.2021.735488. eCollection 2021. Front Neurol. 2021. PMID: 34675869 Free PMC article.
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C. Biancheri R, et al. Among authors: broda p. Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. doi: 10.1016/j.bbrc.2007.09.066. Epub 2007 Sep 25. Biochem Biophys Res Commun. 2007. PMID: 17923109
Clinical and molecular consequences of exon 78 deletion in DMD gene.
Traverso M, Assereto S, Baratto S, Iacomino M, Pedemonte M, Diana MC, Ferretti M, Broda P, Minetti C, Gazzerro E, Madia F, Bruno C, Zara F, Fiorillo C. Traverso M, et al. Among authors: broda p. J Hum Genet. 2018 Jun;63(6):761-764. doi: 10.1038/s10038-018-0439-6. Epub 2018 Mar 19. J Hum Genet. 2018. PMID: 29556034
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
84 results