Bertini E - Search Results

1

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Garone G, Capuano A, Travaglini L, Graziola F, Stregapede F, Zanni G, Vigevano F, Bertini E, Nicita F. Garone G, et al. Among authors: bertini e. Int J Mol Sci. 2020 May 20;21(10):3603. doi: 10.3390/ijms21103603. Int J Mol Sci. 2020. PMID: 32443735 Free PMC article. Review.

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

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

4

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

5

X-linked congenital ataxia: a clinical and genetic study.

Bertini E, des Portes V, Zanni G, Santorelli F, Dionisi-Vici C, Vicari S, Fariello G, Chelly J. Bertini E, et al. Am J Med Genet. 2000 May 1;92(1):53-6. Am J Med Genet. 2000. PMID: 10797423

6

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

7

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

8

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group; Valente EM, Gleeson JG. Brancati F, et al. Among authors: bertini e. Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 May 18. Am J Hum Genet. 2007. PMID: 17564967 Free PMC article.

9

X-linked congenital ataxia: a new locus maps to Xq25-q27.1.

Zanni G, Bertini E, Bellcross C, Nedelec B, Froyen G, Neuhäuser G, Opitz JM, Chelly J. Zanni G, et al. Among authors: bertini e. Am J Med Genet A. 2008 Mar 1;146A(5):593-600. doi: 10.1002/ajmg.a.32186. Am J Med Genet A. 2008. PMID: 18241076

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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