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Items: 1 to 50 of 209

1.

Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A.

Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium.

Ann Neurol. 2019 Jan 31. doi: 10.1002/ana.25426. [Epub ahead of print]

PMID:
30706531
2.

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.

Neuromuscul Disord. 2018 Dec 21. pii: S0960-8966(18)31085-X. doi: 10.1016/j.nmd.2018.12.008. [Epub ahead of print]

PMID:
30642740
3.

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks.

Meister-Broekema M, Freilich R, Jagadeesan C, Rauch JN, Bengoechea R, Motley WW, Kuiper EFE, Minoia M, Furtado GV, van Waarde MAWH, Bird SJ, Rebelo A, Zuchner S, Pytel P, Scherer SS, Morelli FF, Carra S, Weihl CC, Bergink S, Gestwicki JE, Kampinga HH.

Nat Commun. 2018 Dec 17;9(1):5342. doi: 10.1038/s41467-018-07718-5.

4.

Schwann cell-derived periostin promotes autoimmune peripheral polyneuropathy via macrophage recruitment.

Allard DE, Wang Y, Li JJ, Conley B, Xu EW, Sailer D, Kimpston C, Notini R, Smith CJ, Koseoglu E, Starmer J, Zeng XL, Howard JF Jr, Hoke A, Scherer SS, Su MA.

J Clin Invest. 2018 Oct 1;128(10):4727-4741. doi: 10.1172/JCI99308. Epub 2018 Sep 17.

5.

Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E.

Lancaster E, Li J, Hanania T, Liem R, Scheideler MA, Scherer SS.

Exp Neurol. 2018 Oct;308:13-25. doi: 10.1016/j.expneurol.2018.06.010. Epub 2018 Jun 22.

PMID:
29940160
6.

Genetic test utilization and diagnostic yield in adult patients with neurological disorders.

Bardakjian TM, Helbig I, Quinn C, Elman LB, McCluskey LF, Scherer SS, Gonzalez-Alegre P.

Neurogenetics. 2018 May;19(2):105-110. doi: 10.1007/s10048-018-0544-x. Epub 2018 Mar 28.

PMID:
29589152
7.

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S.

Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023.

8.

Double Triangular Cartilage Excision Otoplasty.

Gualdi A, Cambiaso-Daniel J, Gatti J, Wurzer P, Sljivich M, Scherer SS, Pietramaggiori G, Bertossi D, Botti C, Botti G.

Plast Reconstr Surg. 2018 Mar;141(3):348e-356e. doi: 10.1097/PRS.0000000000004175.

PMID:
29481393
9.

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.

Saghira C, Bis DM, Stanek D, Strickland A, Herrmann DN, Reilly MM, Scherer SS, Shy ME; Inherited Neuropathy Consortium, Züchner S.

Hum Mutat. 2018 May;39(5):635-642. doi: 10.1002/humu.23412. Epub 2018 Mar 14.

PMID:
29473246
10.

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.

J Peripher Nerv Syst. 2018 Mar;23(1):36-39. doi: 10.1111/jns.12248. Epub 2018 Feb 6.

PMID:
29341354
11.

PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models.

Zhao HT, Damle S, Ikeda-Lee K, Kuntz S, Li J, Mohan A, Kim A, Hung G, Scheideler MA, Scherer SS, Svaren J, Swayze EE, Kordasiewicz HB.

J Clin Invest. 2018 Jan 2;128(1):359-368. doi: 10.1172/JCI96499. Epub 2017 Dec 4.

12.

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.

Neurology. 2018 Jan 2;90(1):e31-e38. doi: 10.1212/WNL.0000000000004773. Epub 2017 Nov 29.

13.

Nodes, paranodes and neuropathies.

Fehmi J, Scherer SS, Willison HJ, Rinaldi S.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):61-71. doi: 10.1136/jnnp-2016-315480. Epub 2017 Aug 17. Review.

PMID:
28819062
14.

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.

J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):846-863. doi: 10.1136/jnnp-2016-313960. Epub 2017 Aug 9. Review.

PMID:
28794150
15.

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).

Neurology. 2017 Aug 29;89(9):927-935. doi: 10.1212/WNL.0000000000004296. Epub 2017 Aug 2.

16.

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.

Panosyan FB, Kirk CA, Marking D, Reilly MM, Scherer SS, Shy ME, Herrmann DN.

Muscle Nerve. 2018 Mar;57(3):388-394. doi: 10.1002/mus.25742. Epub 2017 Jul 21.

PMID:
28692128
17.

Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.

Laurá M, Singh D, Ramdharry G, Morrow J, Skorupinska M, Pareyson D, Burns J, Lewis RA, Scherer SS, Herrmann DN, Cullen N, Bradish C, Gaiani L, Martinelli N, Gibbons P, Pfeffer G, Phisitkul P, Wapner K, Sanders J, Flemister S, Shy ME, Reilly MM; Inherited Neuropathies Consortium.

Muscle Nerve. 2018 Feb;57(2):255-259. doi: 10.1002/mus.25724. Epub 2017 Jul 7.

18.

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.

Abrams CK, Goman M, Wong S, Scherer SS, Kleopa KA, Peinado A, Freidin MM.

Sci Rep. 2017 Jan 10;7:40166. doi: 10.1038/srep40166.

19.

Minimal Undermining Suspension Technique (MUST): Combined Eyebrow and Mid-face Lift via Temporal Access.

Gualdi A, Cambiaso-Daniel J, Gatti J, Bertossi D, Pietramaggiori G, Scherer SS, Wurzer P, Lumenta DB.

Aesthetic Plast Surg. 2017 Feb;41(1):40-46. doi: 10.1007/s00266-016-0745-3. Epub 2016 Dec 28.

PMID:
28032176
20.

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.

Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008.

21.

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.

Wang W, Wang C, Dawson DB, Thorland EC, Lundquist PA, Eckloff BW, Wu Y, Baheti S, Evans JM, Scherer SS, Dyck PJ, Klein CJ.

Neurology. 2016 May 10;86(19):1762-71. doi: 10.1212/WNL.0000000000002659. Epub 2016 Apr 13.

22.

Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy.

Kagiava A, Sargiannidou I, Theophilidis G, Karaiskos C, Richter J, Bashiardes S, Schiza N, Nearchou M, Christodoulou C, Scherer SS, Kleopa KA.

Proc Natl Acad Sci U S A. 2016 Apr 26;113(17):E2421-9. doi: 10.1073/pnas.1522202113. Epub 2016 Mar 28.

23.

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.

Brain. 2016 Jun;139(Pt 6):1649-56. doi: 10.1093/brain/aww055. Epub 2016 Mar 23.

24.

Subtype-specific therapy for autoimmune neuropathies?

Lancaster E, Scherer SS.

Neurol Neuroimmunol Neuroinflamm. 2015 Sep 24;2(5):e152. doi: 10.1212/NXI.0000000000000152. eCollection 2015 Oct. No abstract available.

25.

Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.

Thomas FP, Guergueltcheva V, Gondim FA, Tournev I, Rao CV, Ishpekova B, Kinsella LJ, Pan Y, Geller TJ, Litvinenko I, De Jonghe P, Scherer SS, Jordanova A.

J Neurol. 2016 Mar;263(3):467-76. doi: 10.1007/s00415-015-7989-8. Epub 2016 Jan 2.

PMID:
26725087
26.

Blocking bad.

Scherer SS.

Brain. 2015 Nov;138(Pt 11):3132-3. doi: 10.1093/brain/awv279. No abstract available.

PMID:
26503937
27.

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).

Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.

28.

Supraorbital Neuroma: A Rare and Unreported Complication Following Blepharoplasty.

Pietramaggiori G, Scherer SS, Peled ZM, Wassim R.

J Reconstr Microsurg. 2015 Oct;31(8):614-6. doi: 10.1055/s-0035-1555012. Epub 2015 Jul 28. No abstract available.

PMID:
26220427
29.

Caspr2 autoantibodies target multiple epitopes.

Olsen AL, Lai Y, Dalmau J, Scherer SS, Lancaster E.

Neurol Neuroimmunol Neuroinflamm. 2015 Jul 2;2(4):e127. doi: 10.1212/NXI.0000000000000127. eCollection 2015 Aug.

30.

Activated immune response in an inherited leukodystrophy disease caused by the loss of oligodendrocyte gap junctions.

Wasseff SK, Scherer SS.

Neurobiol Dis. 2015 Oct;82:86-98. doi: 10.1016/j.nbd.2015.05.018. Epub 2015 Jun 4.

31.

Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease.

Sargiannidou I, Kagiava A, Bashiardes S, Richter J, Christodoulou C, Scherer SS, Kleopa KA.

Ann Neurol. 2015 Aug;78(2):303-16. doi: 10.1002/ana.24441. Epub 2015 Jun 30.

PMID:
26010264
32.

Novel micropatterns mechanically control fibrotic reactions at the surface of silicone implants.

Majd H, Scherer SS, Boo S, Ramondetti S, Cambridge E, Raffoul W, Friedrich M, Pittet B, Pioletti D, Hinz B, Pietramaggiori G.

Biomaterials. 2015 Jun;54:136-47. doi: 10.1016/j.biomaterials.2015.03.027. Epub 2015 Apr 2.

PMID:
25907047
33.

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.

Neurology. 2015 May 19;84(20):2040-7. doi: 10.1212/WNL.0000000000001583. Epub 2015 Apr 22.

34.

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.

Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, Grossman M, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ.

Brain. 2015 Apr;138(Pt 4):845-61. doi: 10.1093/brain/awv010. Epub 2015 Feb 11.

35.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, Sumner CJ, Muntoni F, Piscosquito G, Ramchandren S, Shy R, Siskind CE, Yum SW, Moroni I, Pagliano E, Zuchner S, Scherer SS, Shy ME; Inherited Neuropathies Consortium.

J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):873-8. doi: 10.1136/jnnp-2014-308826. Epub 2014 Nov 27.

36.

A new mutation in GJC2 associated with subclinical leukodystrophy.

Abrams CK, Scherer SS, Flores-Obando R, Freidin MM, Wong S, Lamantea E, Farina L, Scaioli V, Pareyson D, Salsano E.

J Neurol. 2014 Oct;261(10):1929-38. doi: 10.1007/s00415-014-7429-1. Epub 2014 Jul 25.

37.

Ranvier revisited: novel nodal antigens stimulate interest in GBS pathogenesis.

Willison H, Scherer SS.

Neurology. 2014 Jul 8;83(2):106-8. doi: 10.1212/WNL.0000000000000581. Epub 2014 Jun 11. No abstract available.

PMID:
24920859
38.

Kv7.2 regulates the function of peripheral sensory neurons.

King CH, Lancaster E, Salomon D, Peles E, Scherer SS.

J Comp Neurol. 2014 Oct 1;522(14):3262-80. doi: 10.1002/cne.23595. Epub 2014 Apr 12.

39.

Activated microglia do not form functional gap junctions in vivo.

Wasseff SK, Scherer SS.

J Neuroimmunol. 2014 Apr 15;269(1-2):90-3. doi: 10.1016/j.jneuroim.2014.02.005. Epub 2014 Feb 13.

40.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H.

Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19.

41.

Modality-based organization of ascending somatosensory axons in the direct dorsal column pathway.

Niu J, Ding L, Li JJ, Kim H, Liu J, Li H, Moberly A, Badea TC, Duncan ID, Son YJ, Scherer SS, Luo W.

J Neurosci. 2013 Nov 6;33(45):17691-709. doi: 10.1523/JNEUROSCI.3429-13.2013.

42.

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

Caramins M, Colebatch JG, Bainbridge MN, Scherer SS, Abrams CK, Hackett EL, Freidin MM, Jhangiani SN, Wang M, Wu Y, Muzny DM, Lindeman R, Gibbs RA.

Hum Mol Genet. 2013 Nov 1;22(21):4329-38. doi: 10.1093/hmg/ddt282. Epub 2013 Jun 16.

43.

X-linked Charcot-Marie-Tooth disease.

Scherer SS, Kleopa KA.

J Peripher Nerv Syst. 2012 Dec;17 Suppl 3:9-13. doi: 10.1111/j.1529-8027.2012.00424.x. Review.

44.

How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?

Kleopa KA, Abrams CK, Scherer SS.

Brain Res. 2012 Dec 3;1487:198-205. doi: 10.1016/j.brainres.2012.03.068. Epub 2012 Jul 6. Review.

45.

Neuronal cadherin (NCAD) increases sensory neurite formation and outgrowth on astrocytes.

Ferguson TA, Scherer SS.

Neurosci Lett. 2012 Aug 1;522(2):108-12. doi: 10.1016/j.neulet.2012.06.013. Epub 2012 Jun 12.

46.

Nonactivated versus thrombin-activated platelets on wound healing and fibroblast-to-myofibroblast differentiation in vivo and in vitro.

Scherer SS, Tobalem M, Vigato E, Heit Y, Modarressi A, Hinz B, Pittet B, Pietramaggiori G.

Plast Reconstr Surg. 2012 Jan;129(1):46e-54e. doi: 10.1097/PRS.0b013e3182362010.

PMID:
22186584
47.

Microtubules, axonal transport, and neuropathy.

Holzbaur EL, Scherer SS.

N Engl J Med. 2011 Dec 15;365(24):2330-2. doi: 10.1056/NEJMcibr1112481. No abstract available.

48.

Kv7.5 is the primary Kv7 subunit expressed in C-fibers.

King CH, Scherer SS.

J Comp Neurol. 2012 Jun 15;520(9):1940-50. doi: 10.1002/cne.23019.

49.

Foam pore size is a critical interface parameter of suction-based wound healing devices.

Heit YI, Dastouri P, Helm DL, Pietramaggiori G, Younan G, Erba P, Münster S, Orgill DP, Scherer SS.

Plast Reconstr Surg. 2012 Mar;129(3):589-97. doi: 10.1097/PRS.0b013e3182402c89.

PMID:
22090246
50.

The debut of a rational treatment for an inherited neuropathy?

Scherer SS.

J Clin Invest. 2011 Dec;121(12):4624-7. doi: 10.1172/JCI60511.

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