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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: griguoli a. Front Neurol. 2023 Dec 7;14:1296924. doi: 10.3389/fneur.2023.1296924. eCollection 2023. Front Neurol. 2023. PMID: 38145127 Free PMC article.
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
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).
Ferese R, Albano V, Falconi M, Iacovelli F, Campopiano R, Scala S, Griguoli AM, Gaglione A, Giardina E, Zampatti S, Storto M, Fornai F, D'Alessio C, Novelli G, Gambardella S. Ferese R, et al. Among authors: griguoli am. Arch Ital Biol. 2017 Dec 1;155(4):118-130. doi: 10.12871/000398292017410. Arch Ital Biol. 2017. PMID: 29405036 No abstract available.
PCR-based approach for qualitative molecular analysis of six neurotropic pathogens.
Ferese R, Scorzolini L, Campopiano R, Albano V, Griguoli AM, Giardina E, Scala S, Ryskalin L, D'Alessio C, Zampatti S, Fantozzi R, Storto M, Fornai F, Gambardella S. Ferese R, et al. Among authors: griguoli am. Acta Virol. 2017;61(3):273-279. doi: 10.4149/av_2017_305. Acta Virol. 2017. PMID: 28854791
The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson's Disease Owing Genetic and Anatomical Specificity.
Gambardella S, Ferese R, Biagioni F, Busceti CL, Campopiano R, Griguoli AMP, Limanaqi F, Novelli G, Storto M, Fornai F. Gambardella S, et al. Among authors: griguoli amp. Front Cell Neurosci. 2017 Apr 18;11:102. doi: 10.3389/fncel.2017.00102. eCollection 2017. Front Cell Neurosci. 2017. PMID: 28458632 Free PMC article. Review.
The Corticospinal Tract in Huntington's Disease.
Phillips O, Squitieri F, Sanchez-Castaneda C, Elifani F, Griguoli A, Maglione V, Caltagirone C, Sabatini U, Di Paola M. Phillips O, et al. Among authors: griguoli a. Cereb Cortex. 2015 Sep;25(9):2670-82. doi: 10.1093/cercor/bhu065. Epub 2014 Apr 4. Cereb Cortex. 2015. PMID: 24706734
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