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194 results

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Page 1
Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.
Tessa A, Schifino M, Salvo E, Trovato R, Cesana L, Frosini S, Pasquariello R, Sgherri G, Battini R, Bonaglia MC, Santorelli FM, Astrea G. Tessa A, et al. Genes (Basel). 2024 Nov 19;15(11):1483. doi: 10.3390/genes15111483. Genes (Basel). 2024. PMID: 39596683 Free PMC article.
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: tessa a. J Neurol. 2024 Dec;271(12):7650-7651. doi: 10.1007/s00415-024-12629-1. J Neurol. 2024. PMID: 39499281 No abstract available.
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report.
De Riggi M, De Giorgi A, Pollini L, Angelini L, Paparella G, Cannavacciuolo A, Birreci D, Costa D, Tessa A, Natale G, Fiorelli M, Galatolo D, Santorelli FM, Galosi S, Bologna M. De Riggi M, et al. Among authors: tessa a. Cerebellum. 2024 Dec;23(6):2679-2683. doi: 10.1007/s12311-024-01734-6. Epub 2024 Sep 17. Cerebellum. 2024. PMID: 39287920 Free PMC article.
Pseudodominance in RFC1-Spectrum Disorder.
Falcone GMI, Tessa A, Arena IG, Barghigiani M, Migliorato A, Incensi A, Rodolico C, Donadio V, Santorelli FM, Musumeci O. Falcone GMI, et al. Among authors: tessa a. Cerebellum. 2024 Dec;23(6):2622-2628. doi: 10.1007/s12311-024-01735-5. Epub 2024 Sep 4. Cerebellum. 2024. PMID: 39230846
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: tessa 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
194 results