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Year | Number of Results |
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2020 | 3 |
2021 | 1 |
2022 | 1 |
2023 | 3 |
2024 | 0 |
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Page 1
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
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.
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
Clinical Trial.
Item in Clipboard
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.
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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.
Item in Clipboard
Disease-specific wearable sensor algorithms for profiling activity, gait, and balance in individuals with Charcot-Marie-Tooth disease type 1A.
Dinesh K, White N, Baker L, Sowden JE, Behrens-Spraggins S, Wood E, Charles J, Herrmann DN, Sharma G, Eichinger K.
Dinesh K, et al. Among authors: behrens spraggins s.
J Peripher Nerv Syst. 2023 Sep;28(3):368-381. doi: 10.1111/jns.12562. Epub 2023 Jun 13.
J Peripher Nerv Syst. 2023.
PMID: 37209301
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In Vivo Reflectance Microscopy of Meissner Corpuscles and Bedside Measures of Large Fiber Sensory Function: A Normative Data Cohort.
Creigh PD, Du K, Wood EP, Mountain J, Sowden J, Charles J, Behrens-Spraggins S, Herrmann DN.
Creigh PD, et al. Among authors: behrens spraggins s.
Neurology. 2022 Feb 15;98(7):e750-e758. doi: 10.1212/WNL.0000000000013175. Epub 2021 Dec 8.
Neurology. 2022.
PMID: 34880095
Free PMC article.
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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
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