Rizzi S - Search Results

1

Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.

Rizzi S, Spagnoli C, Bellini M, Cesaroni CA, Spezia E, Bergonzini P, Caramaschi E, Soliani L, Turco EC, Piccolo B, Demuth L, Cordelli DM, Biasucci G, Frattini D, Fusco C. Rizzi S, et al. Genes (Basel). 2023 Sep 21;14(9):1828. doi: 10.3390/genes14091828. Genes (Basel). 2023. PMID: 37761968 Free PMC 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

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.

10

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

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