Mirabelli-Badenier M - Search Results

1

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. 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.

2

Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach?

Mirabelli-Badenier M, Morana G, Bruno C, Di Rocco M, Striano P, De Grandis E, Veneselli E, Rossi A, Biancheri R. Mirabelli-Badenier M, et al. Neuropediatrics. 2015 Apr;46(2):104-9. doi: 10.1055/s-0035-1544185. Epub 2015 Feb 16. Neuropediatrics. 2015. PMID: 25686202

3

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.

Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM. Biancheri R, et al. J Neurol. 2013 Jul;260(7):1866-70. doi: 10.1007/s00415-013-6896-0. Epub 2013 Apr 7. J Neurol. 2013. PMID: 23564332

4

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. 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

5

Anti-NMDAR encephalitis misdiagnosed as Hashimoto's encephalopathy.

Mirabelli-Badenier M, Biancheri R, Morana G, Fornarino S, Siri L, Celle ME, Veneselli E, Vincent A, Gaggero R, Mancardi MM. Mirabelli-Badenier M, et al. Eur J Paediatr Neurol. 2014 Jan;18(1):72-4. doi: 10.1016/j.ejpn.2013.07.002. Epub 2013 Aug 15. Eur J Paediatr Neurol. 2014. PMID: 23953644

6

Anti-glutamic acid decarboxylase limbic encephalitis without epilepsy evolving into dementia with cerebellar ataxia.

Mirabelli-Badenier M, Morana G, Pinto F, Uccelli A, Veneselli E, Battaglia FM, Biancheri R, Baglietto MG, Vincent A, Mancardi MM. Mirabelli-Badenier M, et al. Arch Neurol. 2012 Aug;69(8):1064-6. doi: 10.1001/archneurol.2012.234. Arch Neurol. 2012. PMID: 22507885

7

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.

Gimelli S, Capra V, Di Rocco M, Leoni M, Mirabelli-Badenier M, Schiaffino MC, Fiorio P, Cuoco C, Gimelli G, Tassano E. Gimelli S, et al. Among authors: mirabelli badenier m. Mol Cytogenet. 2014 Aug 13;7:54. doi: 10.1186/s13039-014-0054-y. eCollection 2014. Mol Cytogenet. 2014. PMID: 25478008 Free PMC article.

8

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.

Nuovo S, Micalizzi A, Romaniello R, Arrigoni F, Ginevrino M, Casella A, Serpieri V, D'Arrigo S, Briguglio M, Salerno GG, Rossato S, Sartori S, Leuzzi V, Battini R, Ben-Zeev B, Graziano C, Mirabelli Badenier M, Brankovic V, Nardocci N, Spiegel R, Petković Ramadža D, Vento G, Marti I, Simonati A, Dipresa S, Freri E, Mazza T, Bassi MT, Bosco L, Travaglini L, Zanni G, Bertini ES, Vanacore N, Borgatti R, Valente EM. Nuovo S, et al. Among authors: mirabelli badenier m. J Med Genet. 2022 Apr;59(4):399-409. doi: 10.1136/jmedgenet-2020-107497. Epub 2021 Mar 5. J Med Genet. 2022. PMID: 34085948

9

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.

Capra V, Mirabelli-Badenier M, Stagnaro M, Rossi A, Tassano E, Gimelli S, Gimelli G. Capra V, et al. BMC Med Genet. 2012 Oct 4;13:93. doi: 10.1186/1471-2350-13-93. BMC Med Genet. 2012. PMID: 23035971 Free PMC article.

10

Response to rituximab in 3 children with opsoclonus-myoclonus syndrome resistant to conventional treatments.

Battaglia T, De Grandis E, Mirabelli-Badenier M, Boeri L, Morcaldi G, Barabino P, Intra C, Naselli F, Pistoia V, Veneselli E, Conte M. Battaglia T, et al. Eur J Paediatr Neurol. 2012 Mar;16(2):192-5. doi: 10.1016/j.ejpn.2011.05.013. Epub 2011 Jul 6. Eur J Paediatr Neurol. 2012. PMID: 21737325

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