Spagnoli C - Search Results

1

SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review.

Spagnoli C, Schiavoni S, Rizzi S, Salerno GG, Frattini D, Koskenvuo J, Fusco C. Spagnoli C, et al. J Clin Neurosci. 2021 Dec;94:281-285. doi: 10.1016/j.jocn.2021.10.026. Epub 2021 Nov 9. J Clin Neurosci. 2021. PMID: 34863451 Review.

2

Steroids efficacy in the acute management of seizure clusters in one case of PCDH19 female epilepsy.

Bertani G, Spagnoli C, Iodice A, Salerno GG, Frattini D, Fusco C. Bertani G, et al. Among authors: spagnoli c. Seizure. 2015 Nov;32:45-6. doi: 10.1016/j.seizure.2015.09.002. Epub 2015 Sep 8. Seizure. 2015. PMID: 26552561 Free article. No abstract available.

3

CMV-associated axonal sensory-motor Guillain-Barré syndrome in a child: Case report and review of the literature.

Spagnoli C, Iodice A, Salerno GG, Frattini D, Bertani G, Pisani F, Fusco C. Spagnoli C, et al. Eur J Paediatr Neurol. 2016 Jan;20(1):168-75. doi: 10.1016/j.ejpn.2015.11.004. Epub 2015 Nov 14. Eur J Paediatr Neurol. 2016. PMID: 26621312 Review.

4

Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy.

Maini I, Iodice A, Spagnoli C, Salerno GG, Bertani G, Frattini D, Fusco C. Maini I, et al. Among authors: spagnoli c. Eur J Paediatr Neurol. 2016 May;20(3):454-6. doi: 10.1016/j.ejpn.2016.01.010. Epub 2016 Feb 2. Eur J Paediatr Neurol. 2016. PMID: 26876767

5

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update.

Spagnoli C, Iodice A, Salerno GG, Frattini D, Bertani G, Fusco C. Spagnoli C, et al. Neuromuscul Disord. 2016 Jun;26(6):394. doi: 10.1016/j.nmd.2016.04.007. Epub 2016 Apr 8. Neuromuscul Disord. 2016. PMID: 27137093 No abstract available.

6

Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.

Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, Pisani F, Fusco C. Iodice A, et al. Among authors: spagnoli c. Brain Dev. 2017 Feb;39(2):93-100. doi: 10.1016/j.braindev.2016.08.012. Epub 2016 Nov 21. Brain Dev. 2017. PMID: 27884548 Review.

7

Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability?

Iodice A, Panteghini C, Spagnoli C, Salerno GG, Frattini D, Russo C, Garavaglia B, Fusco C. Iodice A, et al. Among authors: spagnoli c. J Neurol. 2017 Mar;264(3):586-588. doi: 10.1007/s00415-017-8393-3. Epub 2017 Jan 24. J Neurol. 2017. PMID: 28120039 No abstract available.

8

KCNQ2 encephalopathy: A case due to a de novo deletion.

Spagnoli C, Salerno GG, Iodice A, Frattini D, Pisani F, Fusco C. Spagnoli C, et al. Brain Dev. 2018 Jan;40(1):65-68. doi: 10.1016/j.braindev.2017.06.008. Epub 2017 Jul 17. Brain Dev. 2018. PMID: 28728838

9

Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.

Fusco C, Spagnoli C, Salerno GG, Pavlidis E, Frattini D, Pisani F. Fusco C, et al. Among authors: spagnoli c. Ital J Pediatr. 2017 Oct 27;43(1):97. doi: 10.1186/s13052-017-0414-4. Ital J Pediatr. 2017. PMID: 29078790 Free PMC article.

10

"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. Among authors: spagnoli c. 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

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

123 results

Search Page