Della Giustina E - Search Results

1

Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome.

Giovannini S, Frattini D, Scarano A, Fusco C, Bertani G, Della Giustina E, Martinelli P, Orteschi D, Zollino M, Neri G, Gobbi G. Giovannini S, et al. Among authors: della giustina e. Epileptic Disord. 2010 Sep;12(3):222-7. doi: 10.1684/epd.2010.0324. Epub 2010 Jul 19. Epileptic Disord. 2010. PMID: 20643614 Free article.

2

Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients.

Giovannini S, Marangio L, Fusco C, Scarano A, Frattini D, Della Giustina E, Zollino M, Neri G, Gobbi G. Giovannini S, et al. Among authors: della giustina e. Epilepsia. 2013 Dec;54(12):2204-13. doi: 10.1111/epi.12393. Epub 2013 Oct 1. Epilepsia. 2013. PMID: 24116895 Free article.

3

The ring 14 syndrome: clinical and molecular definition.

Zollino M, Seminara L, Orteschi D, Gobbi G, Giovannini S, Della Giustina E, Frattini D, Scarano A, Neri G. Zollino M, et al. Among authors: della giustina e. Am J Med Genet A. 2009 Jun;149A(6):1116-24. doi: 10.1002/ajmg.a.32831. Am J Med Genet A. 2009. PMID: 19441122

4

"Minimal" holoprosencephaly in a 14q deletion syndrome patient.

Della Giustina E, Iodice A, Spagnoli C, Giovannini S, Frattini D, Fusco C, Gobbi G, Zollino M, Neri G. Della Giustina E, et al. Am J Med Genet A. 2017 Dec;173(12):3216-3220. doi: 10.1002/ajmg.a.38378. Am J Med Genet A. 2017. PMID: 29136354

5

Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation.

Fusco C, Frattini D, Farnetti E, Nicoli D, Casali B, Della Giustina E. Fusco C, et al. Among authors: della giustina e. J Child Neurol. 2012 Oct;27(10):1348-50. doi: 10.1177/0883073811435245. Epub 2012 Feb 28. J Child Neurol. 2012. PMID: 22378671

6

Stress fracture of the peroneal bone secondary to a complex tic.

Fusco C, Bertani G, Caricati G, Della Giustina E. Fusco C, et al. Among authors: della giustina e. Brain Dev. 2006 Jan;28(1):52-4. doi: 10.1016/j.braindev.2005.03.009. Epub 2005 Jun 16. Brain Dev. 2006. PMID: 15963669

7

Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a 13-year-old boy.

Fusco C, Frattini D, Pisani F, Gellera C, Della Giustina E. Fusco C, et al. Among authors: della giustina e. J Child Neurol. 2008 Nov;23(11):1328-30. doi: 10.1177/0883073808318058. J Child Neurol. 2008. PMID: 18984846

8

Transient basal ganglia and thalamic involvement following Mycoplasma pneumoniae infection associated with antiganglioside antibodies.

Fusco C, Bonini E, Soncini G, Frattini D, Giovannini S, Della Giustina E. Fusco C, et al. Among authors: della giustina e. J Child Neurol. 2010 Aug;25(8):1029-33. doi: 10.1177/0883073809355823. Epub 2010 Mar 19. J Child Neurol. 2010. PMID: 20305125

9

Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient.

Fusco C, Frattini D, Pisani F, Spaggiari F, Ferlini A, Della Giustina E. Fusco C, et al. Among authors: della giustina e. J Child Neurol. 2010 Jun;25(6):759-63. doi: 10.1177/0883073809344119. Epub 2010 Apr 9. J Child Neurol. 2010. PMID: 20382840

10

Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.

Frattini D, Fusco C, Ucchino V, Tavazzi B, Della Giustina E. Frattini D, et al. Among authors: della giustina e. Pediatr Neurol. 2010 Aug;43(2):135-8. doi: 10.1016/j.pediatrneurol.2010.04.007. Pediatr Neurol. 2010. PMID: 20610126

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