Rizzi S - Search Results

1

Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.

Schiavoni S, Spagnoli C, Rizzi S, Salerno GG, Frattini D, Pisani F, Fusco C. Schiavoni S, et al. Among authors: rizzi s. Dev Med Child Neurol. 2020 Sep;62(9):1068-1074. doi: 10.1111/dmcn.14547. Epub 2020 Apr 10. Dev Med Child Neurol. 2020. PMID: 32277485 Free article.

2

Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations.

Spagnoli C, Frattini D, Rizzi S, Salerno GG, Fusco C. Spagnoli C, et al. Among authors: rizzi s. Seizure. 2019 Feb;65:62-64. doi: 10.1016/j.seizure.2019.01.002. Epub 2019 Jan 2. Seizure. 2019. PMID: 30612077 Free article. No abstract available.

3

Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephaly.

Iodice A, Spagnoli C, Frattini D, Salerno GG, Rizzi S, Fusco C. Iodice A, et al. Among authors: rizzi s. Seizure. 2019 Jul;69:296-297. doi: 10.1016/j.seizure.2019.05.015. Epub 2019 May 19. Seizure. 2019. PMID: 31146092 Free article. No abstract available.

4

IRF2BPL gene variants: One new case.

Spagnoli C, Rizzi S, Salerno GG, Frattini D, Fusco C. Spagnoli C, et al. Among authors: rizzi s. Am J Med Genet A. 2020 Jan;182(1):255-256. doi: 10.1002/ajmg.a.61401. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729144 No abstract available.

5

Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurologic phenotype.

Scarpini G, Spagnoli C, Salerno GG, Rizzi S, Frattini D, Fusco C. Scarpini G, et al. Among authors: rizzi s. Neuromuscul Disord. 2019 Dec;29(12):979. doi: 10.1016/j.nmd.2019.05.001. Epub 2019 May 4. Neuromuscul Disord. 2019. PMID: 31787464 No abstract available.

6

Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report.

Spagnoli C, Rizzi S, Salerno GG, Frattini D, Fusco C. Spagnoli C, et al. Among authors: rizzi s. Ital J Pediatr. 2019 Dec 3;45(1):155. doi: 10.1186/s13052-019-0752-5. Ital J Pediatr. 2019. PMID: 31796088 Free PMC article.

7

New biallelic GBA2 variant in a patient with SPG46.

Spagnoli C, Schiavoni S, Rizzi S, Salerno GG, Frattini D, Fusco C. Spagnoli C, et al. Among authors: rizzi s. Clin Neurol Neurosurg. 2020 Apr;191:105676. doi: 10.1016/j.clineuro.2020.105676. Epub 2020 Jan 13. Clin Neurol Neurosurg. 2020. PMID: 31955126 No abstract available.

8

A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype.

Soliani L, Spagnoli C, Salerno GG, Mehine M, Rizzi S, Frattini D, Koskenvuo J, Fusco C. Soliani L, et al. Among authors: rizzi s. J Neuroophthalmol. 2021 Mar 1;41(1):e85-e88. doi: 10.1097/WNO.0000000000000921. J Neuroophthalmol. 2021. PMID: 32141982 No abstract available.

9

Long-term follow-up in infantile-onset SCAR18: A case report.

Iodice A, Spagnoli C, Cangini M, Soliani L, Rizzi S, Salerno GG, Frattini D, Pisani F, Fusco C. Iodice A, et al. Among authors: rizzi s. J Clin Neurosci. 2020 Jul;77:232-234. doi: 10.1016/j.jocn.2020.05.008. Epub 2020 May 6. J Clin Neurosci. 2020. PMID: 32387255

10

Early-onset Dopamine Transporter Deficiency Syndrome: Long-term Follow-up.

Baga M, Spagnoli C, Soliani L, Salerno GG, Rizzi S, Frattini D, Pisani F, Fusco C. Baga M, et al. Among authors: rizzi s. Can J Neurol Sci. 2021 Mar;48(2):285-286. doi: 10.1017/cjn.2020.144. Epub 2020 Jul 10. Can J Neurol Sci. 2021. PMID: 32646530 No abstract available.

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