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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

70 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
Bonaventura E, Alberti L, Lucchi S, Cappelletti L, Fazzone S, Cattaneo E, Bellini M, Izzo G, Parazzini C, Bosetti A, Di Profio E, Fiore G, Ferrario M, Mameli C, Sangiorgio A, Masnada S, Zuccotti GV, Veggiotti P, Spaccini L, Iascone M, Verduci E, Cereda C, Tonduti D; XALD-NBS Study Group. Bonaventura E, et al. Among authors: spaccini l. Front Neurol. 2023 Jan 9;13:1072256. doi: 10.3389/fneur.2022.1072256. eCollection 2022. Front Neurol. 2023. PMID: 36698902 Free PMC article.
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring.
Bonaventura E, Alberti L, Lucchi S, Cappelletti L, Fazzone S, Cattaneo E, Bellini M, Izzo G, Parazzini C, Bosetti A, Di Profio E, Fiore G, Ferrario M, Mameli C, Sangiorgio A, Masnada S, Zuccotti GV, Veggiotti P, Spaccini L, Iascone M, Verduci E, Cereda C, Tonduti D; XALD-NBS Study Group. Bonaventura E, et al. Among authors: spaccini l. Front Neurol. 2024 Mar 6;15:1376447. doi: 10.3389/fneur.2024.1376447. eCollection 2024. Front Neurol. 2024. PMID: 38510379 Free PMC article.
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B, Spagnoli C, Caraffi SG, Cavalli A, Cesaroni CA, Cutillo G, De Giorgis V, Frattini D, Marchetti GB, Masnada S, Peron A, Rizzi S, Varesio C, Spaccini L, Vignoli A, Canevini MP, Veggiotti P, Garavelli L, Fusco C. Cavirani B, et al. Among authors: spaccini l. Int J Mol Sci. 2024 Jan 19;25(2):1248. doi: 10.3390/ijms25021248. Int J Mol Sci. 2024. PMID: 38279250 Free PMC article.
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
Rosina E, Pezzani L, Apuril E, Pezzoli L, Marchetti D, Bellini M, Lucca C, Meossi C, Massimello M, Mariani M, Scatigno A, Cattaneo E, Colombo L, Maitz S, Cereda A, Milani D, Spaccini L, Bedeschi MF, Selicorni A, Iascone M. Rosina E, et al. Among authors: spaccini l. Mol Genet Genomic Med. 2024 Jan;12(1):e2316. doi: 10.1002/mgg3.2316. Epub 2023 Dec 2. Mol Genet Genomic Med. 2024. PMID: 38041506 Free PMC article.
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
Di Feo MF, Lillback V, Jokela M, McEntagart M, Homfray T, Giorgio E, Casalis Cavalchini GC, Brusco A, Iascone M, Spaccini L, D'Oria P, Savarese M, Udd B. Di Feo MF, et al. Among authors: spaccini l. J Med Genet. 2023 Sep;60(9):866-873. doi: 10.1136/jmg-2022-109018. Epub 2023 Mar 28. J Med Genet. 2023. PMID: 36977548 Free article.
70 results