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Page 1
Cerebrotendinous Xanthomatosis.
Federico A, Gallus GN. Federico A, et al. Among authors: gallus gn. 2003 Jul 16 [updated 2024 Nov 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Jul 16 [updated 2024 Nov 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301583 Free Books & Documents. Review.
CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.
Lopergolo D, Gallus GN, Pieraccini G, Boscaro F, Berti G, Serni G, Volpi N, Formichi P, Bianchi S, Cassandrini D, Sorrentino V, Rossi D, Santorelli FM, De Stefano N, Malandrini A. Lopergolo D, et al. Among authors: gallus gn. Cells. 2024 Sep 8;13(17):1504. doi: 10.3390/cells13171504. Cells. 2024. PMID: 39273074 Free PMC article.
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).
Aguti S, Gallus GN, Bianchi S, Salvatore S, Rubegni A, Berti G, Formichi P, De Stefano N, Malandrini A, Lopergolo D. Aguti S, et al. Among authors: gallus gn. Cells. 2024 Feb 10;13(4):329. doi: 10.3390/cells13040329. Cells. 2024. PMID: 38391941 Free PMC article.
Familial Alzheimer's disease associated with heterozygous NPC1 mutation.
Lopergolo D, Bianchi S, Gallus GN, Locci S, Pucci B, Leoni V, Gasparini D, Tardelli E, Chincarini A, Sestini S, Santorelli FM, Zetterberg H, De Stefano N, Mignarri A. Lopergolo D, et al. Among authors: gallus gn. J Med Genet. 2024 Mar 21;61(4):332-339. doi: 10.1136/jmg-2023-109219. J Med Genet. 2024. PMID: 37989569
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.
Pretegiani E, Rosini F, Rufa A, Gallus GN, Cardaioli E, Da Pozzo P, Bianchi S, Serchi V, Collura M, Franceschini R, Bianchi Marzoli S, Dotti MT, Federico A. Pretegiani E, et al. Among authors: gallus gn. J Neurol Sci. 2017 Nov 15;382:29-35. doi: 10.1016/j.jns.2017.09.018. Epub 2017 Sep 14. J Neurol Sci. 2017. PMID: 29111013
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.
Da Pozzo P, Cardaioli E, Rubegni A, Gallus GN, Malandrini A, Rufa A, Battisti C, Carluccio MA, Rocchi R, Giannini F, Bianchi A, Mancuso M, Siciliano G, Dotti MT, Federico A. Da Pozzo P, et al. Among authors: gallus gn. Neurol Sci. 2017 Apr;38(4):563-570. doi: 10.1007/s10072-016-2734-3. Epub 2017 Jan 27. Neurol Sci. 2017. PMID: 28130605
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.
Mignarri A, Magni A, Del Puppo M, Gallus GN, Björkhem I, Federico A, Dotti MT. Mignarri A, et al. Among authors: gallus gn. J Inherit Metab Dis. 2016 Jan;39(1):75-83. doi: 10.1007/s10545-015-9873-1. Epub 2015 Jul 8. J Inherit Metab Dis. 2016. PMID: 26153518
98 results