Bertini E - Search Results

1

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

Schirinzi T, Graziola F, Cusmai R, Fusco L, Nicita F, Elia M, Travaglini L, Bertini E, Curatolo P, Vigevano F, Capuano A. Schirinzi T, et al. Among authors: bertini e. Brain Dev. 2018 May;40(5):433-438. doi: 10.1016/j.braindev.2018.01.002. Epub 2018 Feb 1. Brain Dev. 2018. PMID: 29395663

2

Epilepsia partialis continua and neuronal migration anomalies.

Fusco L, Bertini E, Vigevano F. Fusco L, et al. Among authors: bertini e. Brain Dev. 1992 Sep;14(5):323-8. doi: 10.1016/s0387-7604(12)80152-5. Brain Dev. 1992. PMID: 1456388

3

Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections.

Bertini E, Cusmai R, de Saint Basile G, Le Deist F, Di Capua M, Gaggero DR, Dionisi-Vici C, Santillo C, Caniglia M. Bertini E, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):443-51. doi: 10.1002/ajmg.1320430167. Am J Med Genet. 1992. PMID: 1605224

4

Hemimegalencephaly and intractable epilepsy: benefits of hemispherectomy.

Vigevano F, Bertini E, Boldrini R, Bosman C, Claps D, di Capua M, di Rocco C, Rossi GF. Vigevano F, et al. Among authors: bertini e. Epilepsia. 1989 Nov-Dec;30(6):833-43. doi: 10.1111/j.1528-1157.1989.tb05347.x. Epilepsia. 1989. PMID: 2591346

5

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.

Dionisi Vici C, Sabetta G, Gambarara M, Vigevano F, Bertini E, Boldrini R, Parisi SG, Quinti I, Aiuti F, Fiorilli M. Dionisi Vici C, et al. Among authors: bertini e. Am J Med Genet. 1988 Jan;29(1):1-8. doi: 10.1002/ajmg.1320290102. Am J Med Genet. 1988. PMID: 3344762

6

[Neonatal myoclonic encephalopathy. Contribution of a case with suspected dysmetabolic etiology].

Vigevano F, Cincinnati P, Bertini E, Bosman C, Gisondi A, Maccagnani F. Vigevano F, et al. Among authors: bertini e. Riv Neurobiol. 1981 Jul-Dec;27(34):458-66. Riv Neurobiol. 1981. PMID: 7052649 Italian. No abstract available.

7

Bilateral, reversible, selective thalamic involvement demonstrated by brain MR and acute severe neurological dysfunction with favorable outcome.

Cusmai R, Bertini E, Di Capua M, Ricci S, Vigevano F, Milani L, Fariello G. Cusmai R, et al. Among authors: bertini e. Neuropediatrics. 1994 Feb;25(1):44-7. doi: 10.1055/s-2008-1071582. Neuropediatrics. 1994. PMID: 8208352

8

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM. Cannelli N, et al. Among authors: bertini e. Neurogenetics. 2006 May;7(2):111-7. doi: 10.1007/s10048-005-0024-y. Epub 2006 Mar 29. Neurogenetics. 2006. PMID: 16570191

9

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.

Striano P, Specchio N, Biancheri R, Cannelli N, Simonati A, Cassandrini D, Rossi A, Bruno C, Fusco L, Gaggero R, Vigevano F, Bertini E, Zara F, Santorelli FM, Striano S. Striano P, et al. Among authors: bertini e. Epilepsy Behav. 2007 Feb;10(1):187-91. doi: 10.1016/j.yebeh.2006.10.009. Epub 2006 Nov 28. Epilepsy Behav. 2007. PMID: 17129765

10

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zabloka D, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group. Brancati F, et al. Among authors: bertini e. Hum Mutat. 2009 Feb;30(2):E432-42. doi: 10.1002/humu.20924. Hum Mutat. 2009. PMID: 19058225 Free PMC article.

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