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White matter involvement in a family with a novel PDGFB mutation.
Biancheri R, Severino M, Robbiano A, Iacomino M, Del Sette M, Minetti C, Cervasio M, Del Basso De Caro M, Striano P, Zara F. Biancheri R, et al. Among authors: severino m. Neurol Genet. 2016 May 5;2(3):e77. doi: 10.1212/NXG.0000000000000077. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27227165 Free PMC article.
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.
Giribaldi G, Doria-Lamba L, Biancheri R, Severino M, Rossi A, Santorelli FM, Schiaffino C, Caruso U, Piemonte F, Bruno C. Giribaldi G, et al. Among authors: severino m. Dev Med Child Neurol. 2012 May;54(5):472-6. doi: 10.1111/j.1469-8749.2011.04151.x. Epub 2011 Dec 5. Dev Med Child Neurol. 2012. PMID: 22142326 Free article.
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.
Mirabelli-Badenier M, Severino M, Tappino B, Tortora D, Camia F, Zanaboni C, Brera F, Priolo E, Rossi A, Biancheri R, Di Rocco M, Filocamo M. Mirabelli-Badenier M, et al. Among authors: severino m. Metab Brain Dis. 2015 Jun;30(3):681-6. doi: 10.1007/s11011-014-9612-6. Epub 2014 Aug 26. Metab Brain Dis. 2015. PMID: 25156245
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: severino 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.
383 results