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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: manganelli f. 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.
Case of acute motor conduction block neuropathy (AMCBN).
Manganelli F, Pisciotta C, Iodice R, Calandro S, Dubbioso R, Ranieri A, Santoro L. Manganelli F, et al. Muscle Nerve. 2009 Feb;39(2):224-6. doi: 10.1002/mus.21219. Muscle Nerve. 2009. PMID: 19145655
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappatà S, Di Fonzo A, Oostra BA, Bonifati V. Santoro L, et al. Among authors: manganelli f. Neurogenetics. 2011 Feb;12(1):33-9. doi: 10.1007/s10048-010-0259-0. Epub 2010 Sep 21. Neurogenetics. 2011. PMID: 20853184 Free PMC article.
326 results