Pro S - Search Results

1

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.

Zanni G, Nardella M, Barresi S, Bellacchio E, Niceta M, Ciolfi A, Pro S, D'Arrigo S, Tartaglia M, Bertini E. Zanni G, et al. Among authors: pro s. Brain. 2017 Jun 1;140(6):e34. doi: 10.1093/brain/awx083. Brain. 2017. PMID: 28402445 No abstract available.

2

Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.

Travaglini L, Bellacchio E, Aiello C, Pro S, Bertini E, Nicita F. Travaglini L, et al. Among authors: pro s. J Neurol Sci. 2017 Jul 15;378:210-212. doi: 10.1016/j.jns.2017.05.014. Epub 2017 May 10. J Neurol Sci. 2017. PMID: 28566166 No abstract available.

3

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.

Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, Pizzi S, Bruselles A, Person R, Richards S, Cho MT, Claps Sepulveda DJ, Pro S, Battini R, Zampino G, Digilio MC, Bocchinfuso G, Dallapiccola B, Stella L, Tartaglia M. Bauer CK, et al. Among authors: pro s. Am J Hum Genet. 2018 Oct 4;103(4):621-630. doi: 10.1016/j.ajhg.2018.09.001. Am J Hum Genet. 2018. PMID: 30290154 Free PMC article.

4

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.

Graziola F, Stregapede F, Travaglini L, Garone G, Verardo M, Bosco L, Pro S, Bertini E, Curatolo P, Vigevano F, Capuano A. Graziola F, et al. Among authors: pro s. Parkinsonism Relat Disord. 2019 Apr;61:4-6. doi: 10.1016/j.parkreldis.2018.12.001. Epub 2018 Dec 7. Parkinsonism Relat Disord. 2019. PMID: 30579817 No abstract available.

5

Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.

Olivieri G, Pro S, Diodato D, Di Capua M, Longo D, Martinelli D, Bertini E, Dionisi-Vici C. Olivieri G, et al. Among authors: pro s. Orphanet J Rare Dis. 2019 Aug 23;14(1):208. doi: 10.1186/s13023-019-1181-7. Orphanet J Rare Dis. 2019. PMID: 31443672 Free PMC article.

6

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.

Stregapede F, Travaglini L, Rebelo AP, Cintra VP, Bellacchio E, Bosco L, Alfieri P, Pro S, Zuchner S, Bertini E, Nicita F. Stregapede F, et al. Among authors: pro s. Clin Genet. 2020 Mar;97(3):521-526. doi: 10.1111/cge.13668. Epub 2019 Dec 5. Clin Genet. 2020. PMID: 31705535

7

Age-related sensory neuropathy in patients with spinal muscular atrophy type 1.

Pro S, Tozzi AE, D'Amico A, Catteruccia M, Cherchi C, De Luca M, Nicita F, Diodato D, Cutrera R, Bertini E, Valeriani M. Pro S, et al. Muscle Nerve. 2021 Nov;64(5):599-603. doi: 10.1002/mus.27389. Epub 2021 Aug 23. Muscle Nerve. 2021. PMID: 34368972

8

Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report.

Nicita F, Travaglini L, Bombelli F, Tosi M, Pro S, Bertini E, D'Amico A. Nicita F, et al. Among authors: pro s. Neurol Genet. 2021 Mar 3;8(2):e661. doi: 10.1212/NXG.0000000000000661. eCollection 2022 Apr. Neurol Genet. 2021. PMID: 35252561 Free PMC article.

9

"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.

Nicita F, Stregapede F, Deodato F, Pizzi S, Martinelli S, Pagliara D, Aiello C, Cumbo F, Piemonte F, D'Amico J, Pro S, Longo D, Genovese S, Tartaglia M, Escolar ML, Bertini E, Travaglini L. Nicita F, et al. Among authors: pro s. Eur J Hum Genet. 2022 Aug;30(8):984-988. doi: 10.1038/s41431-022-01111-z. Epub 2022 May 17. Eur J Hum Genet. 2022. PMID: 35581417 Free PMC article.

10

A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum.

Colona VL, Bertini E, Digilio MC, D'Amico A, Novelli A, Pro S, Pisaneschi E, Nicita F. Colona VL, et al. Among authors: pro s. Brain Sci. 2023 Nov 8;13(11):1567. doi: 10.3390/brainsci13111567. Brain Sci. 2023. PMID: 38002527 Free PMC article.

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