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Results: 1 to 20 of 77

1.

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.

PMID:
25059390
[PubMed - in process]
2.

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
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
24687876
[PubMed - in process]
4.

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.

PMID:
24582000
[PubMed - indexed for MEDLINE]
5.

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, Z├╝chner S, Muntoni F, Houlden H.

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

PMID:
24253200
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
24198362
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
23773993
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
23279425
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

PMID:
22771394
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

PMID:
22698587
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

PMID:
22168648
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
22134895
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
22045569
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

Murphy SM, Herrmann DN, McDermott MP, Scherer SS, Shy ME, Reilly MM, Pareyson D.

J Peripher Nerv Syst. 2011 Sep;16(3):191-8. doi: 10.1111/j.1529-8027.2011.00350.x.

PMID:
22003934
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Gap junctions in inherited human disorders of the central nervous system.

Abrams CK, Scherer SS.

Biochim Biophys Acta. 2012 Aug;1818(8):2030-47. doi: 10.1016/j.bbamem.2011.08.015. Epub 2011 Aug 16. Review.

PMID:
21871435
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The in vivo contribution of motor neuron TrkB receptors to mutant SOD1 motor neuron disease.

Zhai J, Zhou W, Li J, Hayworth CR, Zhang L, Misawa H, Klein R, Scherer SS, Balice-Gordon RJ, Kalb RG.

Hum Mol Genet. 2011 Nov 1;20(21):4116-31. doi: 10.1093/hmg/ddr335. Epub 2011 Aug 4.

PMID:
21816949
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Paranodal permeability in "myelin mutants".

Shroff S, Mierzwa A, Scherer SS, Peles E, Arevalo JC, Chao MV, Rosenbluth J.

Glia. 2011 Oct;59(10):1447-57. doi: 10.1002/glia.21188. Epub 2011 May 26.

PMID:
21618613
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

CMT2A: the name doesn't tell the whole story.

Scherer SS.

Neurology. 2011 May 17;76(20):1686-7. doi: 10.1212/WNL.0b013e31821bcc42. Epub 2011 Apr 20. No abstract available.

PMID:
21508332
[PubMed - indexed for MEDLINE]
19.

Central nervous system dysfunction in a mouse model of FA2H deficiency.

Potter KA, Kern MJ, Fullbright G, Bielawski J, Scherer SS, Yum SW, Li JJ, Cheng H, Han X, Venkata JK, Khan PA, Rohrer B, Hama H.

Glia. 2011 Jul;59(7):1009-21. doi: 10.1002/glia.21172. Epub 2011 Apr 13.

PMID:
21491498
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling.

Wasseff SK, Scherer SS.

Neurobiol Dis. 2011 Jun;42(3):506-13. doi: 10.1016/j.nbd.2011.03.003. Epub 2011 Mar 8.

PMID:
21396451
[PubMed - indexed for MEDLINE]
Free PMC Article

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