Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
2009 1
2010 2
2011 1
2012 1
2013 2
2014 6
2015 5
2016 10
2017 7
2018 9
2019 6
2020 8
2021 7
2022 4
2023 5
2024 3
2025 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

68 results

Results by year

Filters applied: . Clear all
Page 1
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Huemer M, et al. Among authors: diodato d. J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. J Inherit Metab Dis. 2017. PMID: 27905001 Free PMC article. Review.
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. Martinelli D, et al. Among authors: diodato d. Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. Orphanet J Rare Dis. 2015. PMID: 25874378 Free PMC article.
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.
Carli S, Levarlet A, Diodato D, Bertini ES, Martinelli D, Malandrini A, Lopergolo D, Gallus GN, Ganetzky RD, La Morgia C, Carelli V, Primiano G, Domínguez-González C, Serrano-Lorenzo P, Martín MA, Ardissone A, Lamperti C, Nicoletta V, Klopstock T, Distelmaier F, Zeng L, Büchner B, Mancuso M, Schuelke M, Prigione A, Garone C. Carli S, et al. Among authors: diodato d. Neurology. 2025 Apr;104(7):e213462. doi: 10.1212/WNL.0000000000213462. Epub 2025 Mar 20. Neurology. 2025. PMID: 40112238 Free PMC article.
Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.
Luca P, Alessia G, Camilla RM, Antonio N, Diego M, Federica D, Daria D, Rosalba C, Carlo DV, Daniela L. Luca P, et al. Among authors: daria d. Neuroradiology. 2020 Oct;62(10):1315-1321. doi: 10.1007/s00234-020-02501-0. Epub 2020 Jul 22. Neuroradiology. 2020. PMID: 32700106 Free PMC article.
Pleiotropic effects of MORC2 derive from its epigenetic signature.
Peymani F, Ebihara T, Smirnov D, Kopajtich R, Ando M, Bertini E, Carrozzo R, Diodato D, Distelmaier F, Fang F, Ghezzi D, Hempel M, Iwanicka-Pronicka K, Klopstock T, Stenton SL, Lamperti C, Liu Z, Murtazina A, Okamoto Y, Okazaki Y, Piekutowska-Abramczuk D, Rötig A, Ryzhkova O, Schlein C, Shagina O, Takashima H, Tsygankova PG, Zech M, Meitinger T, Shimura M, Murayama K, Prokisch H. Peymani F, et al. Among authors: diodato d. Brain. 2025 Apr 30:awaf159. doi: 10.1093/brain/awaf159. Online ahead of print. Brain. 2025. PMID: 40302207
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
Di Nottia M, Rizza T, Baruffini E, Nesti C, Torraco A, Diodato D, Martinelli D, Dal Canto F, Gilea AI, Zoccola M, Siri B, Dionisi-Vici C, Bertini E, Santorelli FM, Goffrini P, Carrozzo R. Di Nottia M, et al. Among authors: diodato d. Front Genet. 2024 Aug 20;15:1437959. doi: 10.3389/fgene.2024.1437959. eCollection 2024. Front Genet. 2024. PMID: 39233737 Free PMC article.
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology.
Garone G, Innocenti A, Grasso M, Mandarino A, Capuano A, Della Bella G, Frascarelli F, Diodato D, Onesimo R, Zampino G, Novelli A, Digilio MC, Bartuli A, Dentici ML, Parisi P, Galosi S, Tonduti D, Bertini E, Sinibaldi L, Specchio N. Garone G, et al. Among authors: diodato d. Parkinsonism Relat Disord. 2024 Sep;126:107057. doi: 10.1016/j.parkreldis.2024.107057. Epub 2024 Jul 9. Parkinsonism Relat Disord. 2024. PMID: 39067319
68 results