Dalla Bernardina B - Search Results

1

Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease).

Simonati A, Filosto M, Savio C, Tomelleri G, Tonin P, Dalla Bernardina B, Rizzuto N. Simonati A, et al. Among authors: dalla bernardina b. Acta Neuropathol. 2003 Jul;106(1):57-65. doi: 10.1007/s00401-003-0698-x. Epub 2003 Apr 30. Acta Neuropathol. 2003. PMID: 12721699

2

Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation.

Filosto M, Mancuso M, Tomelleri G, Rizzuto N, Dalla Bernardina B, DiMauro S, Simonati A. Filosto M, et al. Among authors: dalla bernardina b. Acta Neuropathol. 2004 Aug;108(2):168-71. doi: 10.1007/s00401-004-0872-9. Epub 2004 May 19. Acta Neuropathol. 2004. PMID: 15150663

3

Ponto-cerebellar hypoplasia with dystonia: clinico-pathological findings in a sporadic case.

Simonati A, Dalla Bernardina B, Colombari R, Rizzuto N. Simonati A, et al. Among authors: dalla bernardina b. Childs Nerv Syst. 1997 Nov-Dec;13(11-12):642-7. doi: 10.1007/s003810050161. Childs Nerv Syst. 1997. PMID: 9454987

4

Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.

Opri R, Fabrizi GM, Cantalupo G, Ferrarini M, Simonati A, Dalla Bernardina B, Darra F. Opri R, et al. Among authors: dalla bernardina b. Seizure. 2016 Nov;42:1-6. doi: 10.1016/j.seizure.2016.08.008. Epub 2016 Sep 5. Seizure. 2016. PMID: 27632409 Free article. Review.

5

Minipolymyoclonus in congenital nemaline myopathy: a nonspecific clinical marker of neurogenic dysfunction.

Colamaria V, Zanetti R, Simeone M, Tomelleri G, Orrico D, Dordi B, Dalla Bernardina B. Colamaria V, et al. Among authors: dalla bernardina b. Brain Dev. 1991 Sep;13(5):358-62. doi: 10.1016/s0387-7604(12)80134-3. Brain Dev. 1991. PMID: 1785661

6

Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy.

Darra F, Lo Barco T, Opri R, Parrini E, Bianchini C, Fiorini E, Simonati A, Dalla Bernardina B, Cantalupo G, Guerrini R. Darra F, et al. Among authors: dalla bernardina b. Neurol Genet. 2021 May 14;7(3):e593. doi: 10.1212/NXG.0000000000000593. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 34017911 Free PMC article.

7

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.

Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Dalla Bernardina B, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM. Cannelli N, et al. Among authors: dalla bernardina b. Biochem Biophys Res Commun. 2009 Feb 20;379(4):892-7. doi: 10.1016/j.bbrc.2008.12.159. Epub 2009 Jan 7. Biochem Biophys Res Commun. 2009. PMID: 19135028

8

Histopathological and ultrastructural study of a case of infantile metachromatic leukodystrophy.

Fenzi F, Moretto G, Maleci A, Galiazzo Rizzuto S, Dalla Bernardina B, Bondavalli S, Rizzuto N. Fenzi F, et al. Among authors: dalla bernardina b. Ital J Neurol Sci. 1983 Dec;4(4):503-7. doi: 10.1007/BF02125635. Ital J Neurol Sci. 1983. PMID: 6325371

9

Bilateral occipital calcification, epilepsy and coeliac disease: clinical and neuroimaging features of a new syndrome.

Magaudda A, Dalla Bernardina B, De Marco P, Sfaello Z, Longo M, Colamaria V, Daniele O, Tortorella G, Tata MA, Di Perri R, et al. Magaudda A, et al. Among authors: dalla bernardina b. J Neurol Neurosurg Psychiatry. 1993 Aug;56(8):885-9. doi: 10.1136/jnnp.56.8.885. J Neurol Neurosurg Psychiatry. 1993. PMID: 8350105 Free PMC article.

10

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

Torniero C, Dalla Bernardina B, Novara F, Cerini R, Bonaglia C, Pramparo T, Ciccone R, Guerrini R, Zuffardi O. Torniero C, et al. Among authors: dalla bernardina b. Eur J Hum Genet. 2008 Aug;16(8):880-7. doi: 10.1038/ejhg.2008.42. Epub 2008 Mar 12. Eur J Hum Genet. 2008. PMID: 18337728

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

143 results

Search Page

Filters