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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.
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: galassi deforie v.
Biomolecules. 2023 Oct 19;13(10):1546. doi: 10.3390/biom13101546.
Biomolecules. 2023.
PMID: 37892228
Free PMC article.
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De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.
Salpietro V, Galassi Deforie V, Efthymiou S, O'Connor E, Marcé-Grau A, Maroofian R, Striano P, Zara F, Morrow MM; SYNAPS Study Group; Reich A, Blevins A, Sala-Coromina J, Accogli A, Fortuna S, Alesandrini M, Au PYB, Singhal NS, Cogne B, Isidor B, Hanna MG, Macaya A, Kullmann DM, Houlden H, Männikkö R.
Salpietro V, et al. Among authors: galassi deforie v.
Epilepsia. 2023 Feb;64(2):443-455. doi: 10.1111/epi.17455. Epub 2022 Dec 5.
Epilepsia. 2023.
PMID: 36318112
Free PMC article.
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RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Currò R, Salvalaggio A, Tozza S, Gemelli C, Dominik N, Galassi Deforie V, Magrinelli F, Castellani F, Vegezzi E, Businaro P, Callegari I, Pichiecchio A, Cosentino G, Alfonsi E, Marchioni E, Colnaghi S, Gana S, Valente EM, Tassorelli C, Efthymiou S, Facchini S, Carr A, Laura M, Rossor AM, Manji H, Lunn MP, Pegoraro E, Santoro L, Grandis M, Bellone E, Beauchamp NJ, Hadjivassiliou M, Kaski D, Bronstein AM, Houlden H, Reilly MM, Mandich P, Schenone A, Manganelli F, Briani C, Cortese A.
Currò R, et al. Among authors: galassi deforie v.
Brain. 2021 Jun 22;144(5):1542-1550. doi: 10.1093/brain/awab072.
Brain. 2021.
PMID: 33969391
Free PMC article.
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CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions.
Dominik N, Galassi Deforie V, Cortese A, Houlden H.
Dominik N, et al. Among authors: galassi deforie v.
J Neurol. 2021 Mar;268(3):1119-1126. doi: 10.1007/s00415-020-10183-0. Epub 2020 Sep 10.
J Neurol. 2021.
PMID: 32910249
Free PMC article.
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[CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia].
Meindl T, Cordts I, Scherzer AL, Lingor P, Maegerlein C, Galassi Deforie V, Dominik N, Houlden H, Cortese A, Deschauer M.
Meindl T, et al. Among authors: galassi deforie v.
Nervenarzt. 2020 Jun;91(6):537-540. doi: 10.1007/s00115-020-00912-1.
Nervenarzt. 2020.
PMID: 32367146
German.
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