Minetti C - Search Results

1

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.

Scala M, Brigati G, Fiorillo C, Nesti C, Rubegni A, Pedemonte M, Bruno C, Severino M, Derchi M, Minetti C, Santorelli FM. Scala M, et al. Among authors: minetti c. Neurogenetics. 2019 Aug;20(3):165-172. doi: 10.1007/s10048-019-00582-5. Epub 2019 Jul 2. Neurogenetics. 2019. PMID: 31267352

2

Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism.

Cassandrini D, Savasta S, Bozzola M, Tessa A, Pedemonte M, Assereto S, Stringara S, Minetti C, Santorelli FM, Bruno C. Cassandrini D, et al. Among authors: minetti c. J Child Neurol. 2006 Nov;21(11):983-5. doi: 10.1177/08830738060210111001. J Child Neurol. 2006. PMID: 17092469

3

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: minetti c. JIMD Rep. 2015;23:85-9. doi: 10.1007/8904_2015_434. Epub 2015 Apr 9. JIMD Rep. 2015. PMID: 25854774 Free PMC article.

4

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.

Savarese M, Musumeci O, Giugliano T, Rubegni A, Fiorillo C, Fattori F, Torella A, Battini R, Rodolico C, Pugliese A, Piluso G, Maggi L, D'Amico A, Bruno C, Bertini E, Santorelli FM, Mora M, Toscano A, Minetti C, Nigro V. Savarese M, et al. Among authors: minetti c. Neuromuscul Disord. 2016 Apr-May;26(4-5):292-9. doi: 10.1016/j.nmd.2016.02.004. Epub 2016 Feb 17. Neuromuscul Disord. 2016. PMID: 27017278 Free PMC article.

5

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.

Minoia F, Bertamino M, Picco P, Severino M, Rossi A, Fiorillo C, Minetti C, Nesti C, Santorelli FM, Di Rocco M. Minoia F, et al. Among authors: minetti c. JIMD Rep. 2017;37:37-43. doi: 10.1007/8904_2017_9. Epub 2017 Mar 1. JIMD Rep. 2017. PMID: 28247337 Free PMC article.

6

Congenital myopathies: clinical phenotypes and new diagnostic tools.

Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Among authors: minetti c. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.

7

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: minetti c. 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

8

Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.

Bruno C, Cassandrini D, Fattori F, Pedemonte M, Fiorillo C, Brigati G, Brisca G, Minetti C, Santorelli FM. Bruno C, et al. Among authors: minetti c. Biochem Biophys Res Commun. 2011 Sep 9;412(4):518-21. doi: 10.1016/j.bbrc.2011.06.155. Epub 2011 Jun 29. Biochem Biophys Res Commun. 2011. PMID: 21741368

9

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

Fiorillo C, Brisca G, Cassandrini D, Scapolan S, Astrea G, Valle M, Scuderi F, Trucco F, Natali A, Magnano G, Gazzerro E, Minetti C, Arca M, Santorelli FM, Bruno C. Fiorillo C, et al. Among authors: minetti c. Biochem Biophys Res Commun. 2013 Jan 4;430(1):241-4. doi: 10.1016/j.bbrc.2012.10.127. Epub 2012 Nov 9. Biochem Biophys Res Commun. 2013. PMID: 23146629

10

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

Fiorillo C, Moro F, Yi J, Weil S, Brisca G, Astrea G, Severino M, Romano A, Battini R, Rossi A, Minetti C, Bruno C, Santorelli FM, Vallee R. Fiorillo C, et al. Among authors: minetti c. Hum Mutat. 2014 Mar;35(3):298-302. doi: 10.1002/humu.22491. Epub 2014 Jan 3. Hum Mutat. 2014. PMID: 24307404 Free PMC article.

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