Search Page
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
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436.
Brain. 2024.
PMID: 38193360
Free PMC article.
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Quartesan I, Vegezzi E, Currò R, Heslegrave A, Pisciotta C, Iruzubieta P, Salvalaggio A, Fernández-Eulate G, Dominik N, Rugginini B, Manini A, Abati E, Facchini S, Manso K, Albajar I, Laban R, Rossor AM, Pichiecchio A, Cosentino G, Saveri P, Salsano E, Andreetta F, Valente EM, Zetterberg H, Giunti P, Stojkovic T, Briani C, López de Munain A, Pareyson D, Reilly MM, Houlden H, Tassorelli C, Cortese A.
Quartesan I, et al.
Mov Disord. 2024 Jan;39(1):209-214. doi: 10.1002/mds.29680. Epub 2023 Dec 6.
Mov Disord. 2024.
PMID: 38054570
Free PMC article.
Item in Clipboard
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions.
Facchini S, Dominik N, Manini A, Efthymiou S, Currò R, Rugginini B, Vegezzi E, Quartesan I, Perrone B, Kutty SK, Galassi Deforie V, Schnekenberg RP, Abati E, Pichiecchio A, Valente EM, Tassorelli C, Reilly MM, Houlden H, Bugiardini E, Cortese A.
Facchini S, et al. Among authors: quartesan i.
Biomolecules. 2023 Oct 19;13(10):1546. doi: 10.3390/biom13101546.
Biomolecules. 2023.
PMID: 37892228
Free PMC article.
Item in Clipboard
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A.
Dominik N, et al. Among authors: quartesan i.
Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240.
Brain. 2023.
PMID: 37450567
Free PMC article.
Item in Clipboard
Electrophysiological evidence of subclinical trigeminal dysfunction in patients with COVID-19 and smell impairment: A pilot study.
Cosentino G, Maiorano E, Todisco M, Prunetti P, Antoniazzi E, Tammam G, Quartesan I, Lettieri S, De Icco R, Corsico AG, Benazzo M, Pisani A, Tassorelli C, Alfonsi E.
Cosentino G, et al. Among authors: quartesan i.
Front Neurol. 2022 Oct 14;13:981888. doi: 10.3389/fneur.2022.981888. eCollection 2022.
Front Neurol. 2022.
PMID: 36313508
Free PMC article.
Item in Clipboard
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Ronco R, Perini C, Currò R, Dominik N, Facchini S, Gennari A, Simone R, Stuart S, Nagy S, Vegezzi E, Quartesan I, El-Saddig A, Lavin T, Tucci A, Szymura A, Novis De Farias LE, Gary A, Delfeld M, Kandikatla P, Niu N, Tawde S, Shaw J, Polke J, Reilly MM, Wood NW, Crespan E, Gomez C, Chen JYH, Schmahmann JD, Gosal D, Houlden H, Das S, Cortese A.
Ronco R, et al. Among authors: quartesan i.
Neurology. 2023 Jan 31;100(5):e543-e554. doi: 10.1212/WNL.0000000000201486. Epub 2022 Oct 26.
Neurology. 2023.
PMID: 36289003
Free PMC article.
Item in Clipboard
Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study.
Vegezzi E, Cortese A, Bergsland N, Mussinelli R, Paoletti M, Solazzo F, Currò R, Ascagni L, Callegari I, Quartesan I, Lozza A, Deligianni X, Santini F, Marchioni E, Cosentino G, Alfonsi E, Tassorelli C, Bastianello S, Merlini G, Palladini G, Obici L, Pichiecchio A.
Vegezzi E, et al. Among authors: quartesan i.
J Neurol. 2023 Jan;270(1):328-339. doi: 10.1007/s00415-022-11336-z. Epub 2022 Sep 6.
J Neurol. 2023.
PMID: 36064814
Free PMC article.
Item in Clipboard
Cite
Cite