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Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
Int J Mol Sci. 2023 Dec 29;25(1):495. doi: 10.3390/ijms25010495.
Int J Mol Sci. 2023.
PMID: 38203665
Free PMC article.
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
Pasquetti D, L'Erario FF, Marangi G, Panfili A, Chiurazzi P, Sonnini E, Orteschi D, Alfieri P; TUDP Study Group; Morleo M, Nigro V, Zollino M.
Pasquetti D, et al.
Clin Genet. 2024 Jan;105(1):81-86. doi: 10.1111/cge.14414. Epub 2023 Aug 9.
Clin Genet. 2024.
PMID: 37558216
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Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
Pasquetti D, Marangi G, Orteschi D, Carapelle M, L'Erario FF, Venditti R, Maietta S, Battaglia DI, Contaldo I, Veredice C, Zollino M.
Pasquetti D, et al.
Genes (Basel). 2023 Jan 17;14(2):245. doi: 10.3390/genes14020245.
Genes (Basel). 2023.
PMID: 36833170
Free PMC article.
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Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis.
Rossi S, Concolino P, Di Natale D, Pasquetti D, Di Lella GM, Chiurazzi P, Silvestri G.
Rossi S, et al. Among authors: pasquetti d.
Neurology. 2023 Jan 24;100(4):199-205. doi: 10.1212/WNL.0000000000201516. Epub 2022 Oct 27.
Neurology. 2023.
PMID: 36302663
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[Chemotherapy and digestive disorders].
Audibert R, Chambon MC, Desfemmes C, Mahsoume S, Mendel M, Negroni C, Pasquetti D, Robert C, Spiteri M, Fofana N.
Audibert R, et al. Among authors: pasquetti d.
Soins. 1991 Jul-Aug;(550-551):47-54.
Soins. 1991.
PMID: 1957208
French.
No abstract available.
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