Severino M - 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: severino m. Neurogenetics. 2019 Aug;20(3):165-172. doi: 10.1007/s10048-019-00582-5. Epub 2019 Jul 2. Neurogenetics. 2019. PMID: 31267352

2

Neuroradiologic findings and follow-up with magnetic resonance imaging of the genetic forms of haemophagocytic lymphohistiocytosis with CNS involvement.

Rego I, Severino M, Micalizzi C, Faraci M, Pende D, Dufour C, Aricò M, Rossi A. Rego I, et al. Among authors: severino m. Pediatr Blood Cancer. 2012 May;58(5):810-4. doi: 10.1002/pbc.23405. Epub 2011 Nov 21. Pediatr Blood Cancer. 2012. PMID: 22106034

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

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.

5

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.

6

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.

7

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.

8

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: severino m. JIMD Rep. 2017;37:37-43. doi: 10.1007/8904_2017_9. Epub 2017 Mar 1. JIMD Rep. 2017. PMID: 28247337 Free PMC article.

9

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: severino m. 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

10

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.

Severino M, Lualdi S, Fiorillo C, Striano P, De Toni T, Peluso S, De Michele G, Rossi A, Filocamo M, Bruno C. Severino M, et al. J Neurol. 2018 Jun;265(6):1419-1425. doi: 10.1007/s00415-018-8826-7. Epub 2018 Apr 17. J Neurol. 2018. PMID: 29666984

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