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Year Number of Results
1984 2
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1992 4
1993 3
1994 8
1995 6
1996 9
1997 10
1998 6
1999 12
2000 4
2001 10
2002 13
2003 5
2004 4
2005 5
2006 10
2007 9
2008 12
2009 7
2010 13
2011 14
2012 7
2013 3
2014 6
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254 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: scherer ss. 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.
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.
Dratch L, Azage M, Baldwin A, Johnson K, Paul RA, Bardakjian TM, Michon SC, Amado DA, Baer M, Deik AF, Elman LB, Gonzalez-Alegre P, Guo MH, Hamedani AG, Irwin DJ, Lasker A, Orthmann-Murphy J, Quinn C, Tropea TF, Scherer SS, Ellis CA. Dratch L, et al. Among authors: scherer ss. J Neurol. 2024 Feb;271(2):733-747. doi: 10.1007/s00415-023-12058-6. Epub 2023 Oct 27. J Neurol. 2024. PMID: 37891417 Free PMC article. Review.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Pipis M, et al. Among authors: scherer ss. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 Free PMC article.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Among authors: scherer ss. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
X-linked Charcot-Marie-Tooth disease.
Scherer SS, Kleopa KA. Scherer SS, et al. J Peripher Nerv Syst. 2012 Dec;17 Suppl 3(0 3):9-13. doi: 10.1111/j.1529-8027.2012.00424.x. J Peripher Nerv Syst. 2012. PMID: 23279425 Free PMC article. Review.
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Auer-Grumbach M, et al. Among authors: scherer ss. Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008. Am J Hum Genet. 2016. PMID: 27588448 Free PMC article.
Nodes, paranodes and neuropathies.
Fehmi J, Scherer SS, Willison HJ, Rinaldi S. Fehmi J, et al. Among authors: scherer ss. J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):61-71. doi: 10.1136/jnnp-2016-315480. Epub 2017 Aug 17. J Neurol Neurosurg Psychiatry. 2018. PMID: 28819062 Free article. Review.
Peripheral Nervous System (PNS) Myelin Diseases.
Scherer SS, Svaren J. Scherer SS, et al. Cold Spring Harb Perspect Biol. 2024 May 2;16(5):a041376. doi: 10.1101/cshperspect.a041376. Cold Spring Harb Perspect Biol. 2024. PMID: 38253417 Review.
Inherited neuropathies.
Kleopa KA, Scherer SS. Kleopa KA, et al. Among authors: scherer ss. Neurol Clin. 2002 Aug;20(3):679-709. doi: 10.1016/s0733-8619(01)00016-0. Neurol Clin. 2002. PMID: 12432826 Review.
254 results