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

301 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Rossi S, Rubegni A, Riso V, Barghigiani M, Bassi MT, Battini R, Bertini E, Cereda C, Cioffi E, Criscuolo C, Dal Fabbro B, Dato C, D'Angelo MG, Di Muzio A, Diamanti L, Dotti MT, Filla A, Gioiosa V, Liguori R, Martinuzzi A, Massa R, Mignarri A, Moroni R, Musumeci O, Nicita F, Orologio I, Orsi L, Pegoraro E, Petrucci A, Plumari M, Ricca I, Rizzo G, Romano S, Rumore R, Sampaolo S, Scarlato M, Seri M, Stefan C, Straccia G, Tessa A, Travaglini L, Trovato R, Ulgheri L, Vazza G, Orlacchio A, Silvestri G, Santorelli FM, Melone MAB, Casali C. Rossi S, et al. Among authors: battini r. Neurol Genet. 2022 Mar 30;8(2):e664. doi: 10.1212/NXG.0000000000000664. eCollection 2022 Apr. Neurol Genet. 2022. PMID: 35372684 Free PMC article.
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Della Giustina E, Calabrese O, Melone MA, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, van der Knaap MS, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM. Denora PS, et al. Among authors: battini r. Hum Mutat. 2009 Mar;30(3):E500-19. doi: 10.1002/humu.20945. Hum Mutat. 2009. PMID: 19105190 Free article.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
Prevalence of congenital muscular dystrophy in Italy: a population study.
Graziano A, Bianco F, D'Amico A, Moroni I, Messina S, Bruno C, Pegoraro E, Mora M, Astrea G, Magri F, Comi GP, Berardinelli A, Moggio M, Morandi L, Pini A, Petillo R, Tasca G, Monforte M, Minetti C, Mongini T, Ricci E, Gorni K, Battini R, Villanova M, Politano L, Gualandi F, Ferlini A, Muntoni F, Santorelli FM, Bertini E, Pane M, Mercuri E. Graziano A, et al. Among authors: battini r. Neurology. 2015 Mar 3;84(9):904-11. doi: 10.1212/WNL.0000000000001303. Epub 2015 Feb 4. Neurology. 2015. PMID: 25653289 Free PMC article.
Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study.
Magliano L, D'Angelo MG, Vita G, Pane M, D'Amico A, Balottin U, Angelini C, Battini R, Politano L, Patalano M, Sagliocchi A, Civati F, Brighina E, Vita GL, Messina S, Sframeli M, Lombardo ME, Scalise R, Colia G, Catteruccia M, Berardinelli A, Motta MC, Gaiani A, Semplicini C, Bello L, Astrea G, Zaccaro A, Scutifero M. Magliano L, et al. Among authors: battini r. Acta Myol. 2014 Dec;33(3):136-43. Acta Myol. 2014. PMID: 25873782 Free PMC article.
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test.
Pane M, Fanelli L, Mazzone ES, Olivieri G, D'Amico A, Messina S, Scutifero M, Battini R, Petillo R, Frosini S, Sivo S, Vita GL, Bruno C, Mongini T, Pegoraro E, De Sanctis R, Gardani A, Berardinelli A, Lanzillotta V, Carlesi A, Viggiano E, Cavallaro F, Sframeli M, Bello L, Barp A, Bianco F, Bonfiglio S, Rolle E, Palermo C, D'Angelo G, Pini A, Iotti E, Gorni K, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E. Pane M, et al. Among authors: battini r. Neuromuscul Disord. 2015 Oct;25(10):749-53. doi: 10.1016/j.nmd.2015.07.009. Epub 2015 Jul 17. Neuromuscul Disord. 2015. PMID: 26248957 Free PMC article.
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.
Mazzone ES, Coratti G, Sormani MP, Messina S, Pane M, D'Amico A, Colia G, Fanelli L, Berardinelli A, Gardani A, Lanzillotta V, D'Ambrosio P, Petillo R, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Forcina N, Magri F, Vita G, Palermo C, Donati MA, Procopio E, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Torrente Y, Previtali SC, Bruno C, Politano L, Comi GP, D'Angelo MG, Bertini E, Mercuri E. Mazzone ES, et al. Among authors: battini r. PLoS One. 2016 Mar 16;11(3):e0151445. doi: 10.1371/journal.pone.0151445. eCollection 2016. PLoS One. 2016. PMID: 26982196 Free PMC article.
301 results