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249 results

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Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.
Horga A, Bugiardini E, Manole A, Bremner F, Jaunmuktane Z, Dankwa L, Rebelo AP, Woodward CE, Hargreaves IP, Cortese A, Pittman AM, Brandner S, Polke JM, Pitceathly RDS, Züchner S, Hanna MG, Scherer SS, Houlden H, Reilly MM. Horga A, et al. Among authors: scherer ss. Neurol Genet. 2019 Apr 1;5(2):e322. doi: 10.1212/NXG.0000000000000322. eCollection 2019 Apr. Neurol Genet. 2019. PMID: 31119193 Free PMC article.
A novel AARS mutation in a family with dominant myeloneuropathy.
Motley WW, Griffin LB, Mademan I, Baets J, De Vriendt E, De Jonghe P, Antonellis A, Jordanova A, Scherer SS. Motley WW, et al. Among authors: scherer ss. Neurology. 2015 May 19;84(20):2040-7. doi: 10.1212/WNL.0000000000001583. Epub 2015 Apr 22. Neurology. 2015. PMID: 25904691 Free PMC article.
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC). Sanmaneechai O, et al. Among authors: scherer ss. Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25. Brain. 2015. PMID: 26310628 Free PMC article.
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
Motley WW, Palaima P, Yum SW, Gonzalez MA, Tao F, Wanschitz JV, Strickland AV, Löscher WN, De Vriendt E, Koppi S, Medne L, Janecke AR, Jordanova A, Zuchner S, Scherer SS. Motley WW, et al. Among authors: scherer ss. Brain. 2016 Jun;139(Pt 6):1649-56. doi: 10.1093/brain/aww055. Epub 2016 Mar 23. Brain. 2016. PMID: 27009151 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.
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Panosyan FB, Laura M, Rossor AM, Pisciotta C, Piscosquito G, Burns J, Li J, Yum SW, Lewis RA, Day J, Horvath R, Herrmann DN, Shy ME, Pareyson D, Reilly MM, Scherer SS; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). Panosyan FB, et al. Among authors: scherer ss. Neurology. 2017 Aug 29;89(9):927-935. doi: 10.1212/WNL.0000000000004296. Epub 2017 Aug 2. Neurology. 2017. PMID: 28768847 Free PMC article. Clinical Trial.
Peripheral neuropathy in complex inherited diseases: an approach to diagnosis.
Rossor AM, Carr AS, Devine H, Chandrashekar H, Pelayo-Negro AL, Pareyson D, Shy ME, Scherer SS, Reilly MM. Rossor AM, et al. Among authors: scherer ss. J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):846-863. doi: 10.1136/jnnp-2016-313960. Epub 2017 Aug 9. J Neurol Neurosurg Psychiatry. 2017. PMID: 28794150 Free article. Review.
Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies.
Burnor E, Yang L, Zhou H, Patterson KR, Quinn C, Reilly MM, Rossor AM, Scherer SS, Lancaster E. Burnor E, et al. Among authors: scherer ss. Neurology. 2018 Jan 2;90(1):e31-e38. doi: 10.1212/WNL.0000000000004773. Epub 2017 Nov 29. Neurology. 2018. PMID: 29187518 Free PMC article.
249 results