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
2006 1
2007 1
2008 1
2009 3
2010 6
2011 7
2012 7
2013 2
2014 1
2016 3
2017 7
2018 7
2019 6
2020 8
2021 10
2022 8
2023 11
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

74 results

Results by year

Filters applied: . Clear all
Page 1
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: trabacca a. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
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.
An Italian consensus on the management of Lennox-Gastaut syndrome.
Riva A, Coppola A, Bonaventura CD, Elia M, Ferlazzo E, Gobbi G, Marini C, Meletti S, Romeo A, Santoro K, Verrotti A, Capovilla G, Striano P; Italian LGS Delphi Group. Riva A, et al. Seizure. 2022 Oct;101:134-140. doi: 10.1016/j.seizure.2022.07.004. Epub 2022 Jul 15. Seizure. 2022. PMID: 35981474 Free article.
Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.
Racca F, Sansone VA, Ricci F, Filosto M, Pedroni S, Mazzone E, Longhitano Y, Zanza C, Ardissone A, Adorisio R, Berardinelli A, Bondone C, Briani C, Cairello F, Carraro E, Comi GP, Crescimanno G, D'Amico A, Deiaco F, Fabiano A, Franceschi F, Mancuso M, Massè A, Messina S, Mongini T, Moroni I, Moscatelli A, Musumeci O, Navalesi P, Nigro G, Origo C, Panicucci C, Pane M, Pavone M, Pedemonte M, Pegoraro E, Piastra M, Pini A, Politano L, Previtali S, Rao F, Ricci G, Toscano A, Wolfler A, Zoccola K, Sancricca C, Nigro V, Trabacca A, Vianello A, Bruno C. Racca F, et al. Among authors: trabacca a. Acta Myol. 2022 Dec 31;41(4):135-177. doi: 10.36185/2532-1900-081. eCollection 2022. Acta Myol. 2022. PMID: 36793651 Free PMC article.
Autism: the solar rainbow spectrum.
Russo L, Ruggiero M, Trabacca A. Russo L, et al. Among authors: trabacca a. Minerva Pediatr. 2018 Feb;70(1):103-104. doi: 10.23736/S0026-4946.17.04807-1. Minerva Pediatr. 2018. PMID: 29363294 No abstract available.
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: trabacca a. Neurology. 2023 Mar 14;100(11):522-528. doi: 10.1212/WNL.0000000000201654. Epub 2022 Dec 2. Neurology. 2023. PMID: 36460469 Free PMC article.
74 results