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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 3
2002 13
2003 4
2004 4
2005 5
2006 10
2007 7
2008 6
2009 3
2010 6
2011 11
2012 5
2013 3
2014 5
2015 8
2016 5
2017 8
2018 13
2019 9
2020 7
2021 5
2022 7
2023 10
2024 7

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148 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.
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.
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 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.
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.
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.
148 results