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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 2
2005 1
2006 2
2008 2
2009 1
2010 1
2011 3
2012 1
2013 2
2014 1
2015 4
2016 2
2017 1
2018 1
2020 1
2021 2
2022 1
2023 3
2024 1

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30 results

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Page 1
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Ronchi D, Garbellini M, Magri F, Menni F, Meneri M, Bedeschi MF, Dilena R, Cecchetti V, Picciolli I, Furlan F, Polimeni V, Salani S, Pezzoli L, Fortunato F, Bellini M, Piga D, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Mangili G, Mosca F, Corti S, Iascone M, Comi GP. Ronchi D, et al. Among authors: furlan f. Eur J Hum Genet. 2023 Dec;31(12):1414-1420. doi: 10.1038/s41431-023-01433-6. Epub 2023 Jul 19. Eur J Hum Genet. 2023. PMID: 37468577
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Ruoppolo M, Malvagia S, Boenzi S, Carducci C, Dionisi-Vici C, Teofoli F, Burlina A, Angeloni A, Aronica T, Bordugo A, Bucci I, Camilot M, Carbone MT, Cardinali R, Carducci C, Cassanello M, Castana C, Cazzorla C, Ciatti R, Ferrari S, Frisso G, Funghini S, Furlan F, Gasperini S, Gragnaniello V, Guzzetti C, La Marca G, La Spina L, Lorè T, Meli C, Messina M, Morrone A, Nardecchia F, Ortolano R, Parenti G, Pavanello E, Pieragostino D, Pillai S, Porta F, Righetti F, Rossi C, Rovelli V, Salina A, Santoro L, Sauro P, Schiaffino MC, Simonetti S, Vincenzi M, Tarsi E, Uccheddu AP. Ruoppolo M, et al. Among authors: furlan f. Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047. Int J Neonatal Screen. 2022. PMID: 35997437 Free PMC article.
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, Gonzales E, Shimura M, Murayama K, Okazaki Y, Barić I, Petkovic Ramadza D, Karall D, Mayr J, Martinelli D, La Morgia C, Primiano G, Santer R, Servidei S, Bris C, Cano A, Furlan F, Gasperini S, Laborde N, Lamperti C, Lenz D, Mancuso M, Montano V, Menni F, Musumeci O, Nesbitt V, Procopio E, Rouzier C, Staufner C, Taanman JW, Tal G, Ticci C, Cordelli DM, Carelli V, Procaccio V, Prokisch H, Garone C. Manzoni E, et al. Among authors: furlan f. Brain Commun. 2024 May 6;6(3):fcae160. doi: 10.1093/braincomms/fcae160. eCollection 2024. Brain Commun. 2024. PMID: 38756539 Free PMC article.
Hyperammonemia Syndrome After Lung Transplantation: A Double-Hit Fatal Syndrome. A Case Report.
Cattaneo V, Caccioppola A, Colombo SM, Scaravilli V, Tubiolo D, Crotti S, Bosone M, Rafaniello Raviele P, Olmeda E, Menni F, Furlan F, Rossetti V, Damarco F, Panigada M, Grasselli G. Cattaneo V, et al. Among authors: furlan f. Transplant Proc. 2023 Oct;55(8):1991-1994. doi: 10.1016/j.transproceed.2023.07.003. Epub 2023 Aug 2. Transplant Proc. 2023. PMID: 37537075
Intravenous enzyme replacement therapy: hospital vs home.
Parini R, Pozzi K, Di Mauro S, Furlan F, Rigoldi M. Parini R, et al. Among authors: furlan f. Br J Nurs. 2010 Jul 22-Aug 11;19(14):892-4, 896-8. doi: 10.12968/bjon.2010.19.14.49047. Br J Nurs. 2010. PMID: 20647981
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Cavicchi C, Oussalah A, Falliano S, Ferri L, Gozzini A, Gasperini S, Motta S, Rigoldi M, Parenti G, Tummolo A, Meli C, Menni F, Furlan F, Daniotti M, Malvagia S, la Marca G, Chery C, Morange PE, Tregouet D, Donati MA, Guerrini R, Guéant JL, Morrone A. Cavicchi C, et al. Among authors: furlan f. Clin Epigenetics. 2021 Jul 2;13(1):137. doi: 10.1186/s13148-021-01117-2. Clin Epigenetics. 2021. PMID: 34215320 Free PMC article.
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.
Pichiecchio A, Rossi M, Cinnante C, Colafati GS, De Icco R, Parini R, Menni F, Furlan F, Burlina A, Sacchini M, Donati MA, Fecarotta S, Casa RD, Deodato F, Taurisano R, Di Rocco M. Pichiecchio A, et al. Among authors: furlan f. Muscle Nerve. 2017 Jun;55(6):841-848. doi: 10.1002/mus.25417. Epub 2017 Feb 9. Muscle Nerve. 2017. PMID: 27668838
Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement.
Paoletti M, Pichiecchio A, Colafati GS, Conte G, Deodato F, Gasperini S, Menni F, Furlan F, Rubert L, Triulzi FM, Cinnante C. Paoletti M, et al. Among authors: furlan f. Front Neurol. 2020 Nov 25;11:569153. doi: 10.3389/fneur.2020.569153. eCollection 2020. Front Neurol. 2020. PMID: 33329311 Free PMC article.
30 results