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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. 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. Nat Genet. 2020 Jun;52(6):640. doi: 10.1038/s41588-020-0649-7. Nat Genet. 2020. PMID: 32457452
Assessing non-Mendelian inheritance in inherited axonopathies.
Bis-Brewer DM, Gan-Or Z, Sleiman P; Inherited Neuropathy Consortium; Hakonarson H, Fazal S, Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupré N, Cheng A, Lloyd TE, Rouleau G, Schüle R, Züchner S. Bis-Brewer DM, et al. Genet Med. 2020 Dec;22(12):2114-2119. doi: 10.1038/s41436-020-0924-0. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741968 Free PMC article.
Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID-19 pandemic: Challenges and solutions.
Eichinger K, Behrens-Spraggins S, Sowden JE, Pareyson D, Reilly MM, Scherer SS, Shy ME, Herrmann DN; ACT-CMT Study Group. Eichinger K, et al. Among authors: behrens spraggins s. J Peripher Nerv Syst. 2023 Sep;28(3):528-529. doi: 10.1111/jns.12559. Epub 2023 Jun 4. J Peripher Nerv Syst. 2023. PMID: 37271500 No abstract available.
Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study.
Rehbein T, Purks J, Dilek N, Behrens-Spraggins S, Sowden JE, Eichinger KJ; ACT‐CMT Study Group; Burns J, Pareyson D, Scherer SS, Reilly MM, Shy ME, McDermott MP, Heatwole CR, Herrmann DN. Rehbein T, et al. Among authors: behrens spraggins s. J Peripher Nerv Syst. 2024 Dec;29(4):487-493. doi: 10.1111/jns.12662. Epub 2024 Oct 10. J Peripher Nerv Syst. 2024. PMID: 39390667
Safety and Efficacy of Topiramate in Individuals With Cryptogenic Sensory Peripheral Neuropathy With Metabolic Syndrome: The TopCSPN Randomized Clinical Trial.
Smith AG, Singleton JR, Aperghis A, Coffey CS, Creigh P, Cudkowicz M, Conwit R, Ecklund D, Fedler JK, Gudjonsdottir A, Hauer P, Herrmann DN, Kearney M, Kissel J, Klingner E, Quick A, Revere C, Stino A; NeuroNEXT NN108 TopCSPN Study Team. Smith AG, et al. JAMA Neurol. 2023 Dec 1;80(12):1334-1343. doi: 10.1001/jamaneurol.2023.3711. JAMA Neurol. 2023. PMID: 37870862 Free PMC article. Clinical Trial.