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A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.
Genes (Basel). 2021 May 19;12(5):775. doi: 10.3390/genes12050775.
Genes (Basel). 2021.
PMID: 34069712
Free PMC article.
Clinical Trial.
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4.
Campopiano R, Ferese R, Buttari F, Femiano C, Centonze D, Fornai F, Biagioni F, Chiaravalloti MA, Magnani M, Giardina E, Ruzzo A, Gambardella S.
Campopiano R, et al. Among authors: chiaravalloti ma.
Front Neurol. 2020 Jan 15;10:1331. doi: 10.3389/fneur.2019.01331. eCollection 2019.
Front Neurol. 2020.
PMID: 32010037
Free PMC article.
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Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).
Ferese R, Scala S, Suppa A, Campopiano R, Asci F, Chiaravalloti MA, Zampogna A, D'Alessio C, Fittipaldi F, Buttari F, Di Pardo A, Giardina E, Zampatti S, Fornai F, Novelli G, Fanelli M, Zecca C, Logroscino G, Centonze D, Gambardella S.
Ferese R, et al. Among authors: chiaravalloti ma.
Clin Genet. 2022 Aug;102(2):155-156. doi: 10.1111/cge.14142. Epub 2022 May 6.
Clin Genet. 2022.
PMID: 35524423
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Induction of a transmissible tau pathology by traumatic brain injury.
Zanier ER, Bertani I, Sammali E, Pischiutta F, Chiaravalloti MA, Vegliante G, Masone A, Corbelli A, Smith DH, Menon DK, Stocchetti N, Fiordaliso F, De Simoni MG, Stewart W, Chiesa R.
Zanier ER, et al. Among authors: chiaravalloti ma.
Brain. 2018 Sep 1;141(9):2685-2699. doi: 10.1093/brain/awy193.
Brain. 2018.
PMID: 30084913
Free PMC article.
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Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.
Ferese R, Scala S, Suppa A, Campopiano R, Asci F, Zampogna A, Chiaravalloti MA, Griguoli A, Storto M, Pardo AD, Giardina E, Zampatti S, Fornai F, Novelli G, Fanelli M, Zecca C, Logroscino G, Centonze D, Gambardella S.
Ferese R, et al. Among authors: chiaravalloti ma.
Front Neurol. 2023 Dec 7;14:1296924. doi: 10.3389/fneur.2023.1296924. eCollection 2023.
Front Neurol. 2023.
PMID: 38145127
Free PMC article.
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Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Di Fonzo A, Percetti M, Monfrini E, Palmieri I, Albanese A, Avenali M, Bartoletti-Stella A, Blandini F, Brescia G, Calandra-Buonaura G, Campopiano R, Capellari S, Colangelo I, Comi GP, Cuconato G, Ferese R, Galandra C, Gambardella S, Garavaglia B, Gaudio A, Giardina E, Invernizzi F, Mandich P, Mineri R, Panteghini C, Reale C, Trevisan L, Zampatti S, Cortelli P, Valente EM; PARKNET study group.
Di Fonzo A, et al.
Mov Disord. 2023 Dec;38(12):2241-2248. doi: 10.1002/mds.29617. Epub 2023 Sep 26.
Mov Disord. 2023.
PMID: 37750340
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