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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. Clin Genet. 2022 Aug;102(2):155-156. doi: 10.1111/cge.14142. Epub 2022 May 6. Clin Genet. 2022. PMID: 35524423
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: ferese r. 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.
Next Generation Sequencing and ALS: known genes, different phenotyphes.
Campopiano R, Ryskalin L, Giardina E, Zampatti S, Busceti CL, Biagioni F, Ferese R, Storto M, Gambardella S, Fornai F. Campopiano R, et al. Among authors: ferese r. Arch Ital Biol. 2017 Dec 1;155(4):110-117. doi: 10.12871/00039829201742. Arch Ital Biol. 2017. PMID: 29405028 Review.
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. Arch Ital Biol. 2017 Dec 1;155(4):118-130. doi: 10.12871/000398292017410. Arch Ital Biol. 2017. PMID: 29405036 No abstract available.
54 results