Scherer SS - Search Results

1

A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.

Vujovic D, Cornblath DR, Scherer SS. Vujovic D, et al. Among authors: scherer ss. J Peripher Nerv Syst. 2021 Jun;26(2):184-186. doi: 10.1111/jns.12443. Epub 2021 Apr 19. J Peripher Nerv Syst. 2021. PMID: 33844363 Free PMC article.

2

Yield of next-generation neuropathy gene panels in axonal neuropathies.

Lee DC, Dankwa L, Edmundson C, Cornblath DR, Scherer SS. Lee DC, et al. Among authors: scherer ss. J Peripher Nerv Syst. 2019 Dec;24(4):324-329. doi: 10.1111/jns.12356. Epub 2019 Nov 19. J Peripher Nerv Syst. 2019. PMID: 31701603 Free PMC article.

3

National Institute of Neurological Disorders and Stroke (NINDS): advances in understanding and treating neuropathy, 24-25 October 2006; Bethesda, Maryland.

Feldman EL, Cornblath DR, Porter J, Dworkin R, Scherer S; Attendees of the NIH Peripheral Neuropathy Conference. Feldman EL, et al. J Peripher Nerv Syst. 2008 Mar;13(1):1-6. doi: 10.1111/j.1529-8027.2008.00154.x. J Peripher Nerv Syst. 2008. PMID: 18346227 Free PMC article.

4

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.

5

A recurrent GARS mutation causes distal hereditary motor neuropathy.

Lee DC, Meyer-Schuman R, Bacon C, Shy ME, Antonellis A, Scherer SS. Lee DC, et al. Among authors: scherer ss. J Peripher Nerv Syst. 2019 Dec;24(4):320-323. doi: 10.1111/jns.12353. Epub 2019 Nov 22. J Peripher Nerv Syst. 2019. PMID: 31628756 Free PMC article.

6

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.

Dankwa L, Richardson J, Motley WW, Züchner S, Scherer SS. Dankwa L, et al. Among authors: scherer ss. J Peripher Nerv Syst. 2018 Mar;23(1):36-39. doi: 10.1111/jns.12248. Epub 2018 Feb 6. J Peripher Nerv Syst. 2018. PMID: 29341354 Free PMC article.

7

POLG mutations presenting as Charcot-Marie-Tooth disease.

Phillips J, Courel S, Rebelo AP, Bis-Brewer DM, Bardakjian T, Dankwa L, Hamedani AG, Züchner S, Scherer SS. Phillips J, et al. Among authors: scherer ss. J Peripher Nerv Syst. 2019 Jun;24(2):213-218. doi: 10.1111/jns.12313. Epub 2019 Apr 10. J Peripher Nerv Syst. 2019. PMID: 30843307 Free PMC article.

8

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.

9

Recent progress on the molecular organization of myelinated axons.

Scherer SS, Arroyo EJ. Scherer SS, et al. J Peripher Nerv Syst. 2002 Mar;7(1):1-12. doi: 10.1046/j.1529-8027.2002.02001.x. J Peripher Nerv Syst. 2002. PMID: 11939347

10

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.

Dankwa L, Richardson J, Motley WW, Scavina M, Courel S, Bardakjian T, Züchner S, Scherer SS. Dankwa L, et al. Among authors: scherer ss. Neuromuscul Disord. 2019 Feb;29(2):134-137. doi: 10.1016/j.nmd.2018.12.008. Epub 2018 Dec 21. Neuromuscul Disord. 2019. PMID: 30642740 Free PMC article.

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