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Page 1
Brain damage in glycogen storage disease type I.
Melis D, Parenti G, Della Casa R, Sibilio M, Romano A, Di Salle F, Elefante R, Mansi G, Santoro L, Perretti A, Paludetto R, Sequino L, Andria G. Melis D, et al. Among authors: santoro l. J Pediatr. 2004 May;144(5):637-42. doi: 10.1016/j.jpeds.2004.02.033. J Pediatr. 2004. PMID: 15127000
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.
Author Correction: 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 Jun;52(6):640. doi: 10.1038/s41588-020-0649-7. Nat Genet. 2020. PMID: 32457452
Chronic inflammatory demyelinating polyradiculoneuropathy: can a diagnosis be made in patients not fulfilling electrodiagnostic criteria?
Liberatore G, Manganelli F, Doneddu PE, Cocito D, Fazio R, Briani C, Filosto M, Benedetti L, Mazzeo A, Antonini G, Cosentino G, Jann S, Cortese A, Marfia GA, Clerici AM, Siciliano G, Carpo M, Luigetti M, Lauria G, Rosso T, Cavaletti G, Santoro L, Peci E, Tronci S, Ruiz M, Cotti Piccinelli S, Schenone A, Leonardi L, Toscano A, Mataluni G, Spina E, Gentile L, Nobile-Orazio E; Italian CIDP Database Study Group. Liberatore G, et al. Among authors: santoro l. Eur J Neurol. 2021 Feb;28(2):620-629. doi: 10.1111/ene.14545. Epub 2020 Oct 15. Eur J Neurol. 2021. PMID: 32959475 Free article.
Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values.
Arends S, Drenthen J, van den Bergh P, Franssen H, Hadden RDM, Islam B, Kuwabara S, Reisin RC, Shahrizaila N, Amino H, Antonini G, Attarian S, Balducci C, Barroso F, Bertorini T, Binda D, Brannagan TH, Buermann J, Casasnovas C, Cavaletti G, Chao CC, Dimachkie MM, Fulgenzi EA, Galassi G, Gutiérrez Gutiérrez G, Harbo T, Hartung HP, Hsieh ST, Kiers L, Lehmann HC, Manganelli F, Marfia GA, Mataluni G, Pardo J, Péréon Y, Rajabally YA, Santoro L, Sekiguchi Y, Stein B, Stettner M, Uncini A, Verboon C, Verhamme C, Vytopil M, Waheed W, Wang M, Zivkovic S, Jacobs BC, Cornblath DR; IGOS consortium. Arends S, et al. Among authors: santoro l. Clin Neurophysiol. 2022 Jun;138:231-240. doi: 10.1016/j.clinph.2021.12.014. Epub 2022 Jan 13. Clin Neurophysiol. 2022. PMID: 35078730 Free article.
Adult-onset Alexander disease : report on a family.
Balbi P, Seri M, Ceccherini I, Uggetti C, Casale R, Fundarò C, Caroli F, Santoro L. Balbi P, et al. Among authors: santoro l. J Neurol. 2008 Jan;255(1):24-30. doi: 10.1007/s00415-007-0654-0. Epub 2007 Nov 21. J Neurol. 2008. PMID: 18004641
790 results