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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 4
2003 1
2004 2
2005 7
2006 8
2007 5
2008 7
2009 4
2010 9
2011 10
2012 14
2013 18
2014 13
2015 18
2016 7
2017 9
2018 14
2019 13
2020 21
2021 11
2022 12
2023 10
2024 4

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191 results

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Page 1
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: santoro l. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Nat Genet. 2020. PMID: 32367058 Free PMC article.
Modified Erasmus GBS Respiratory Insufficiency Score: a simplified clinical tool to predict the risk of mechanical ventilation in Guillain-Barré syndrome.
Luijten LWG, Doets AY, Arends S, Dimachkie MM, Gorson KC, Islam B, Kolb NA, Kusunoki S, Papri N, Waheed W, Walgaard C, Yamagishi Y, Lingsma H, Jacobs BC; IGOS Consortium. Luijten LWG, et al. J Neurol Neurosurg Psychiatry. 2023 Apr;94(4):300-308. doi: 10.1136/jnnp-2022-329937. Epub 2022 Nov 25. J Neurol Neurosurg Psychiatry. 2023. PMID: 36428088
Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database.
Doneddu PE, Cocito D, Manganelli F, Fazio R, Briani C, Filosto M, Benedetti L, Mazzeo A, Marfia GA, Cortese A, Fierro B, Jann S, Beghi E, Clerici AM, Carpo M, Schenone A, Luigetti M, Lauria G, Antonini G, Rosso T, Siciliano G, Cavaletti G, Liberatore G, Santoro L, Peci E, Tronci S, Ruiz M, Cotti Piccinelli S, Toscano A, Mataluni G, Piccolo L, Cosentino G, Sabatelli M, Nobile-Orazio E; Italian CIDP Database study group. Doneddu PE, et al. Among authors: santoro l. J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):125-132. doi: 10.1136/jnnp-2018-318714. Epub 2018 Oct 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30297520 Free article.
Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy.
Doneddu PE, Akyil H, Manganelli F, Briani C, Cocito D, Benedetti L, Mazzeo A, Fazio R, Filosto M, Cosentino G, Di Stefano V, Antonini G, Marfia GA, Inghilleri M, Siciliano G, Clerici AM, Carpo M, Schenone A, Luigetti M, Lauria G, Matà S, Rosso T, Minicuci GM, Lucchetta M, Cavaletti G, Liberatore G, Spina E, Campagnolo M, Peci E, Germano F, Gentile L, Strano C, Cotti Piccinelli S, Vegezzi E, Leonardi L, Mataluni G, Ceccanti M, Schirinzi E, Romozzi M, Nobile-Orazio E; Italian CIDP Database study group. Doneddu PE, et al. J Neurol Neurosurg Psychiatry. 2023 Aug;94(8):614-621. doi: 10.1136/jnnp-2022-331011. Epub 2023 Apr 4. J Neurol Neurosurg Psychiatry. 2023. PMID: 37015771
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.
Pisciotta C, Bertini A, Tramacere I, Manganelli F, Fabrizi GM, Schenone A, Tozza S, Cavallaro T, Taioli F, Ferrarini M, Grandis M, Bellone E, Mandich P, Previtali SC, Falzone Y, Allegri I, Padua L, Pazzaglia C, Quattrone A, Valentino P, Gentile L, Russo M, Calabrese D, Moroni I, Pagliano E, Saveri P, Magri S, Baratta S, Taroni F, Mazzeo A, Santoro L, Vita G, Pareyson D; Italian CMT Network. Pisciotta C, et al. Among authors: santoro l. Eur J Neurol. 2023 Aug;30(8):2461-2470. doi: 10.1111/ene.15860. Epub 2023 May 26. Eur J Neurol. 2023. PMID: 37170966
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Currò R, Salvalaggio A, Tozza S, Gemelli C, Dominik N, Galassi Deforie V, Magrinelli F, Castellani F, Vegezzi E, Businaro P, Callegari I, Pichiecchio A, Cosentino G, Alfonsi E, Marchioni E, Colnaghi S, Gana S, Valente EM, Tassorelli C, Efthymiou S, Facchini S, Carr A, Laura M, Rossor AM, Manji H, Lunn MP, Pegoraro E, Santoro L, Grandis M, Bellone E, Beauchamp NJ, Hadjivassiliou M, Kaski D, Bronstein AM, Houlden H, Reilly MM, Mandich P, Schenone A, Manganelli F, Briani C, Cortese A. Currò R, et al. Among authors: santoro l. Brain. 2021 Jun 22;144(5):1542-1550. doi: 10.1093/brain/awab072. Brain. 2021. PMID: 33969391 Free PMC article.
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Brain. 2024 Jan 9:awad436. doi: 10.1093/brain/awad436. Online ahead of print. Brain. 2024. PMID: 38193360
191 results