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Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in GBA-associated Parkinson's disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol.
Colucci F, Avenali M, De Micco R, Fusar Poli M, Cerri S, Stanziano M, Bacila A, Cuconato G, Franco V, Franciotta D, Ghezzi C, Gastaldi M, Elia AE, Romito L, Devigili G, Leta V, Garavaglia B, Golfrè Andreasi N, Cazzaniga F, Reale C, Galandra C, Germani G, Mitrotti P, Ongari G, Palmieri I, Picascia M, Pichiecchio A, Verri M, Esposito F, Cirillo M, Di Nardo F, Aloisio S, Siciliano M, Prioni S, Amami P, Piacentini S, Bruzzone MG, Grisoli M, Moda F, Eleopra R, Tessitore A, Valente EM, Cilia R. Colucci F, et al. Among authors: garavaglia b. BMJ Neurol Open. 2023 Nov 24;5(2):e000535. doi: 10.1136/bmjno-2023-000535. eCollection 2023. BMJ Neurol Open. 2023. PMID: 38027469 Free PMC article.
A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation.
Romito LM, Paio F, Andreasi NG, Panteghini C, Rinaldo S, Kaymak A, Mazzoni A, Colucci F, Levi V, Messina G, Garavaglia B, Eleopra R. Romito LM, et al. Among authors: garavaglia b. Parkinsonism Relat Disord. 2023 Oct;115:105833. doi: 10.1016/j.parkreldis.2023.105833. Epub 2023 Aug 30. Parkinsonism Relat Disord. 2023. PMID: 37672824 No abstract available.
Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation.
Colucci F, Barca S, Cilia R, De Franco V, Elia AE, Golfrè Andreasi N, Romito L, Telese R, Braccia A, Leta V, Grisoli M, Panteghini C, Garavaglia B, Devigili G, Eleopra R. Colucci F, et al. Among authors: garavaglia b. Mov Disord Clin Pract. 2024 Feb 23. doi: 10.1002/mdc3.14000. Online ahead of print. Mov Disord Clin Pract. 2024. PMID: 38400595 No abstract available.
Illustration of the long-term efficacy of pallidal deep brain stimulation in a patient with PKAN dystonia.
Romito LM, Colucci F, Zorzi G, Garavaglia B, Kaymak A, Mazzoni A, Panteghini C, Golfrè Andreasi N, Rinaldo S, Levi V, Carecchio M, Eleopra R. Romito LM, et al. Among authors: garavaglia b. Parkinsonism Relat Disord. 2024 Apr 25;123:106977. doi: 10.1016/j.parkreldis.2024.106977. Online ahead of print. Parkinsonism Relat Disord. 2024. PMID: 38691977 No abstract available.
The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.
Percetti M, Zini M, Soliveri P, Cogiamanian F, Ferrara M, Orunesu E, Ranghetti A, Ferrarese C, Pezzoli G, Garavaglia B, Isaias IU, Sacilotto G. Percetti M, et al. Among authors: garavaglia b. Mov Disord Clin Pract. 2024 Mar;11(3):289-297. doi: 10.1002/mdc3.13979. Epub 2024 Jan 29. Mov Disord Clin Pract. 2024. PMID: 38284143 Review.
Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report.
Danti FR, Sarmiento IJK, Moloney PB, Colangelo I, Graziola F, Garavaglia B, Zorzi G, Mencacci NE, Lubbe SJ. Danti FR, et al. Among authors: garavaglia b. Mov Disord. 2024 Apr;39(4):747-749. doi: 10.1002/mds.29732. Epub 2024 Feb 21. Mov Disord. 2024. PMID: 38380600 No abstract available.
Episignature analysis of moderate effects and mosaics.
Oexle K, Zech M, Stühn LG, Siegert S, Brunet T, Schmidt WM, Wagner M, Schmidt A, Engels H, Tilch E, Monestier O, Destrėe A, Hanker B, Boesch S, Jech R, Berutti R, Kaiser F, Haslinger B, Haack TB, Garavaglia B, Krawitz P, Winkelmann J, Mirza-Schreiber N. Oexle K, et al. Among authors: garavaglia b. Eur J Hum Genet. 2023 Sep;31(9):1032-1039. doi: 10.1038/s41431-023-01406-9. Epub 2023 Jun 26. Eur J Hum Genet. 2023. PMID: 37365401 Free PMC article.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
230 results