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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

74 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca ML, Barghigiani M, Battisti C, Bilancieri G, Bruno G, Capacci E, Casali C, Ceravolo R, Cocozza S, Cotti Piccinelli S, Criscuolo C, Danzi MC, De Micco R, De Michele G, Dicaire MJ, Falcone GMI, Fancellu R, Ferchichi Y, Ferrari C, Filla A, Fini N, Govoni A, Lo Vecchio F, Malandrini A, Mignarri A, Musumeci O, Nesti C, Pappatà S, Pellecchia MT, Perna A, Petrucci A, Pomponi MG, Ravenni R, Ricca I, Rufa A, Tabolacci E, Tessa A, Tessitore A, Zuchner S, Silvestri G, Cortese A, Brais B, Santorelli FM. Satolli S, et al. Among authors: mignarri a. J Neurol. 2024 Dec;271(12):7650-7651. doi: 10.1007/s00415-024-12629-1. J Neurol. 2024. PMID: 39499281 No abstract available.
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca ML, Barghigiani M, Battisti C, Bilancieri G, Bruno G, Capacci E, Casali C, Ceravolo R, Cocozza S, Cotti Piccinelli S, Criscuolo C, Danzi MC, De Micco R, De Michele G, Dicaire MJ, Falcone GMI, Fancellu R, Ferchichi Y, Ferrari C, Filla A, Fini N, Govoni A, Lo Vecchio F, Malandrini A, Mignarri A, Musumeci O, Nesti C, Pappatà S, Pellecchia MT, Perna A, Petrucci A, Pomponi MG, Ravenni R, Ricca I, Rufa A, Tabolacci E, Tessa A, Tessitore A, Zuchner S, Silvestri G, Cortese A, Brais B, Santorelli FM. Satolli S, et al. Among authors: mignarri a. J Neurol. 2024 Aug;271(8):5478-5488. doi: 10.1007/s00415-024-12506-x. Epub 2024 Jun 17. J Neurol. 2024. PMID: 38886208
Oculomotor features in SCA27B patients.
Lopergolo D, Bargagli A, Satolli S, Barghigiani M, Mignarri A, Musumeci O, Maria Santorelli F, Rufa A. Lopergolo D, et al. Among authors: mignarri a. Clin Neurophysiol. 2024 Feb;158:56-58. doi: 10.1016/j.clinph.2023.12.010. Epub 2023 Dec 22. Clin Neurophysiol. 2024. PMID: 38176158 No abstract available.
Familial Alzheimer's disease associated with heterozygous NPC1 mutation.
Lopergolo D, Bianchi S, Gallus GN, Locci S, Pucci B, Leoni V, Gasparini D, Tardelli E, Chincarini A, Sestini S, Santorelli FM, Zetterberg H, De Stefano N, Mignarri A. Lopergolo D, et al. Among authors: mignarri a. J Med Genet. 2024 Mar 21;61(4):332-339. doi: 10.1136/jmg-2023-109219. J Med Genet. 2024. PMID: 37989569
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, Berardinelli A, Bruno C, Bruno G, Comi GP, Donati MA, Dotti MT, Filosto M, Fiorillo C, Giannini F, Gigli GL, Grandis M, Lopergolo D, Magri F, Maioli MA, Malandrini A, Massa R, Matà S, Melani F, Messina S, Mignarri A, Moggio M, Pennisi EM, Pegoraro E, Ricci G, Sacchini M, Schenone A, Sampaolo S, Sciacco M, Siciliano G, Tasca G, Tonin P, Tupler R, Valente M, Volpi N, Cassandrini D, Santorelli FM. Dosi C, et al. Among authors: mignarri a. Genes (Basel). 2023 Jan 23;14(2):298. doi: 10.3390/genes14020298. Genes (Basel). 2023. PMID: 36833224 Free PMC article.
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Della Vecchia S, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, Astrea G, Bassi MT, Battini R, Casali C, Ciof E, Conti G, De Michele G, Ferrari AR, Filla A, Fiorillo C, Fusco C, Gallone S, Germiniasi C, Guerrini R, Haggiag S, Lopergolo D, Martinuzzi A, Melani F, Mignarri A, Panzeri E, Pini A, Pinto AM, Pochiero F, Primiano G, Procopio E, Renieri A, Romaniello R, Sancricca C, Servidei S, Spagnoli C, Ticci C, Rubegni A, Santorelli FM. Della Vecchia S, et al. Among authors: mignarri a. J Neurol. 2023 Apr;270(4):2345-2346. doi: 10.1007/s00415-023-11589-2. J Neurol. 2023. PMID: 36795150 No abstract available.
74 results