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2014 3
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2018 3
2019 7
2020 8
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Did you mean stefano tozzi (6 results)?
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
Previtali SC, Zhao E, Lazarevic D, Pipitone GB, Fabrizi GM, Manganelli F, Mazzeo A, Pareyson D, Schenone A, Taroni F, Vita G, Bellone E, Ferrarini M, Garibaldi M, Magri S, Padua L, Pennisi E, Pisciotta C, Riva N, Scaioli V, Scarlato M, Tozza S, Geroldi A, Jordanova A, Ferrari M, Molineris I, Reilly MM, Comi G, Carrera P, Devoto M, Bolino A. Previtali SC, et al. Among authors: tozza s. J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1171-1179. doi: 10.1136/jnnp-2019-320717. Epub 2019 Jun 5. J Neurol Neurosurg Psychiatry. 2019. PMID: 31167812
Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs.
Manganelli F, Parisi S, Nolano M, Miceli F, Tozza S, Pisciotta C, Iodice R, Provitera V, Cicatiello R, Zuchner S, Taglialatela M, Russo T, Santoro L. Manganelli F, et al. Among authors: tozza s. J Peripher Nerv Syst. 2019 Dec;24(4):330-339. doi: 10.1111/jns.12357. Epub 2019 Nov 24. J Peripher Nerv Syst. 2019. PMID: 31707753
Six-minute walk test is reliable and sensitive in detecting response to therapy in CIDP.
Spina E, Topa A, Iodice R, Tozza S, Ruggiero L, Dubbioso R, Esposito M, Dolce P, Santoro L, Manganelli F. Spina E, et al. Among authors: tozza s. J Neurol. 2019 Apr;266(4):860-865. doi: 10.1007/s00415-019-09207-1. Epub 2019 Feb 5. J Neurol. 2019. PMID: 30721354
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.
Tozza S, Magri S, Pennisi EM, Schirinzi E, Pisciotta C, Balistreri F, Severi D, Ricci G, Siciliano G, Taroni F, Santoro L, Manganelli F. Tozza S, et al. J Peripher Nerv Syst. 2019 Jun;24(2):219-223. doi: 10.1111/jns.12314. Epub 2019 Mar 28. J Peripher Nerv Syst. 2019. PMID: 30843326
In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C.
Esposito M, Dubbioso R, Tozza S, Iodice R, Aiello M, Nicolai E, Cavaliere C, Salvatore M, Santoro L, Manganelli F. Esposito M, et al. Among authors: tozza s. Heliyon. 2019 Nov 14;5(11):e02776. doi: 10.1016/j.heliyon.2019.e02776. eCollection 2019 Nov. Heliyon. 2019. PMID: 31844711 Free PMC article.
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium, Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Among authors: tozza s. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Nat Genet. 2020. PMID: 32367058
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM. Cortese A, et al. Among authors: tozza s. Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418. Brain. 2020. PMID: 32040566 Free PMC article.
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.
Cotti Piccinelli S, Bassi MT, Citterio A, Manganelli F, Tozza S, Santorelli FM, Gallo Cassarino S, Caria F, Baldelli E, Galvagni A, Santoro L, Padovani A, Filosto M. Cotti Piccinelli S, et al. Among authors: tozza s. Front Neurol. 2019 Jun 5;10:580. doi: 10.3389/fneur.2019.00580. eCollection 2019. Front Neurol. 2019. PMID: 31231303 Free PMC article.
Postural instability in Charcot-Marie-Tooth 1A disease.
Tozza S, Aceto MG, Pisciotta C, Bruzzese D, Iodice R, Santoro L, Manganelli F. Tozza S, et al. Gait Posture. 2016 Sep;49:353-357. doi: 10.1016/j.gaitpost.2016.07.183. Epub 2016 Jul 28. Gait Posture. 2016. PMID: 27491052
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise".
Grandis M, Geroldi A, Gulli R, Manganelli F, Gotta F, Lamp M, Origone P, Trevisan L, Gemelli C, Fabbri S, Schenone A, Tozza S, Santoro L, Bellone E, Mandich P. Grandis M, et al. Among authors: tozza s. Orphanet J Rare Dis. 2018 Oct 4;13(1):177. doi: 10.1186/s13023-018-0917-0. Orphanet J Rare Dis. 2018. PMID: 30286783 Free PMC article.
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