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

Results by year

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

Year Number of Results
2003 2
2005 2
2010 1
2012 3
2013 5
2014 3
2015 3
2016 2
2017 1
2018 5
2019 6
2020 9
2021 6
2022 7
2023 8
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

51 results

Results by year

Filters applied: . Clear all
Page 1
A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro.
Ghirigato E, Terenzi F, Baglivo M, Zanetti N, Baldo F, Murru FM, Bobbo M, Barbi E, Zeviani M, Bruno I, Lamantea E. Ghirigato E, et al. Among authors: bruno i. Neuromuscul Disord. 2023 Dec;33(12):972-977. doi: 10.1016/j.nmd.2023.11.001. Epub 2023 Nov 4. Neuromuscul Disord. 2023. PMID: 38030461
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD, Mercuri E; ITASMAC Working Group. Ricci M, et al. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function.
Pane M, Coratti G, Sansone VA, Messina S, Catteruccia M, Bruno C, Sframeli M, Albamonte E, Pedemonte M, Brolatti N, Mizzoni I, D'Amico A, Bravetti C, Berti B, Palermo C, Leone D, Salmin F, De Sanctis R, Pera MC, Piastra M, Genovese O, Ricci F, Cavallina I, Masson R, Zanin R, Agosto C, Salomon E, Bruno I, Magnolato A, Bertini E, Tiziano FD, Bovis F, Mercuri E; Italian EAP Working Group. Pane M, et al. Among authors: bruno i. Eur J Neurol. 2023 Jun;30(6):1755-1763. doi: 10.1111/ene.15768. Epub 2023 Apr 3. Eur J Neurol. 2023. PMID: 36880698
Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study.
Guffon N, Konstantopoulou V, Hennermann JB, Muschol N, Bruno I, Tummolo A, Ceravolo F, Zardi G, Ballabeni A, Lund A. Guffon N, et al. Among authors: bruno i. J Inherit Metab Dis. 2023 Jul;46(4):705-719. doi: 10.1002/jimd.12602. Epub 2023 Mar 13. J Inherit Metab Dis. 2023. PMID: 36849760 Clinical Trial.
Characterization of Cardiac Function by Echocardiographic Global Longitudinal Strain in a Cohort of Children with Neurofibromatosis Type 1 Treated with Selumetinib.
Caiffa T, Tessitore A, Magnolato A, Petz M, Bobbo M, Chicco D, D'Agata Mottolese B, Porcari A, Barbi E, Sinagra G, Bruno I. Caiffa T, et al. Among authors: bruno i. Paediatr Drugs. 2023 Mar;25(2):217-224. doi: 10.1007/s40272-022-00551-w. Epub 2022 Dec 18. Paediatr Drugs. 2023. PMID: 36529809
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
Coratti G, Ricci M, Capasso A, D'amico A, Sansone V, Bruno C, Messina S, Ricci F, Mongini T, Coccia M, Siciliano G, Pegoraro E, Turri M, Filosto M, Comi G, Masson R, Maggi L, Bruno I, D'Angelo MG, Trabacca A, Vacchiano V, Donati M, Simone I, Ruggiero L, Varone A, Verriello L, Berardinelli A, Agosto C, Pini A, Maioli MA, Passamano L, Brighina F, Carboni N, Garibaldi M, Zuccarino R, Gagliardi D, Siliquini S, Previtali S, Taruscio D, Boccia S, Pera MC, Pane M, Mercuri E; ITASMAC working group. Coratti G, et al. Among authors: bruno i. Neurology. 2023 Mar 14;100(11):522-528. doi: 10.1212/WNL.0000000000201654. Epub 2022 Dec 2. Neurology. 2023. PMID: 36460469 Free PMC article.
Natural history of KBG syndrome in a large European cohort.
Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A, Pinto AM. Loberti L, et al. Among authors: bruno i. Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. Hum Mol Genet. 2022. PMID: 35861666 Free PMC article.
51 results