Severino M - Search Results

1

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.

2

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.

Briguglio M, Pinelli L, Giordano L, Ferraris A, Germanò E, Micheletti S, Severino M, Bernardini L, Loddo S, Tortorella G, Ormitti F, Gasparotti R; CBCD Study Group; Rossi A, Valente EM. Briguglio M, et al. Among authors: severino m. Orphanet J Rare Dis. 2011 Jun 8;6:36. doi: 10.1186/1750-1172-6-36. Orphanet J Rare Dis. 2011. PMID: 21651769 Free PMC article.

3

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.

4

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.

Biancheri R, Rosano C, Denegri L, Lamantea E, Pinto F, Lanza F, Severino M, Filocamo M. Biancheri R, et al. Among authors: severino m. Eur J Hum Genet. 2013 Jan;21(1):34-9. doi: 10.1038/ejhg.2012.93. Epub 2012 Jun 6. Eur J Hum Genet. 2013. PMID: 22669416 Free PMC article.

5

The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a.

Feraco P, Mirabelli-Badenier M, Severino M, Alpigiani MG, Di Rocco M, Biancheri R, Rossi A. Feraco P, et al. Among authors: severino m. AJNR Am J Neuroradiol. 2012 Dec;33(11):2062-7. doi: 10.3174/ajnr.A3151. Epub 2012 Jun 21. AJNR Am J Neuroradiol. 2012. PMID: 22723063 Free PMC article.

6

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.

Biancheri R, Grossi S, Regis S, Rossi A, Corsolini F, Rossi DP, Cavalli P, Severino M, Filocamo M. Biancheri R, et al. Among authors: severino m. Clin Genet. 2014 Mar;85(3):267-72. doi: 10.1111/cge.12154. Epub 2013 May 27. Clin Genet. 2014. PMID: 23711321

7

Spontaneously regressing leukoencephalopathy with bilateral temporal cysts in congenital rubella infection.

Severino M, Zerem A, Biancheri R, Cristina E, Rossi A. Severino M, et al. Pediatr Infect Dis J. 2014 Apr;33(4):422-4. doi: 10.1097/INF.0000000000000134. Pediatr Infect Dis J. 2014. PMID: 24153011

8

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: severino m. 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.

9

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

10

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2.

Fiorillo C, Moro F, Brisca G, Accogli A, Trucco F, Trovato R, Pedemonte M, Severino M, Catala M, Capra V, Santorelli FM, Bruno C, Rossi A, Minetti C. Fiorillo C, et al. Among authors: severino m. Eur J Neurol. 2016 Apr;23(4):e19-21. doi: 10.1111/ene.12914. Eur J Neurol. 2016. PMID: 27000979 No abstract available.

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