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Results: 1 to 20 of 21

1.

Spectrum of neuropathophysiology in spinal muscular atrophy type I.

Harding BN, Kariya S, Monani UR, Chung WK, Benton M, Yum SW, Tennekoon G, Finkel RS.

J Neuropathol Exp Neurol. 2015 Jan;74(1):15-24. doi: 10.1097/NEN.0000000000000144.

PMID:
25470343
2.

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; on behalf of the Inherited Neuropathies Consortium.

J Neurol Neurosurg Psychiatry. 2014 Nov 27. pii: jnnp-2014-308826. doi: 10.1136/jnnp-2014-308826. [Epub ahead of print]

3.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.

4.

Assembly of the cochlear gap junction macromolecular complex requires connexin 26.

Kamiya K, Yum SW, Kurebayashi N, Muraki M, Ogawa K, Karasawa K, Miwa A, Guo X, Gotoh S, Sugitani Y, Yamanaka H, Ito-Kawashima S, Iizuka T, Sakurai T, Noda T, Minowa O, Ikeda K.

J Clin Invest. 2014 Apr;124(4):1598-607. doi: 10.1172/JCI67621. Epub 2014 Mar 3.

5.

Aberrant connexin 43 and 26 expression in cervical dysplasia.

Hagemann IS, Pasha TL, Roberts SA, Yum SW, Zhang PJ.

Anal Quant Cytol Histol. 2012 Feb;34(1):28-40.

PMID:
22590817
6.

Connexin43 Expression Increases in the Epithelium and Stroma along the Colonic Neoplastic Progression Pathway: Implications for Its Oncogenic Role.

Han Y, Zhang PJ, Chen T, Yum SW, Pasha T, Furth EE.

Gastroenterol Res Pract. 2011;2011:561719. doi: 10.1155/2011/561719. Epub 2011 Jun 30.

7.

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.

8.

Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.

Zhang J, Scherer SS, Yum SW.

Mol Cell Neurosci. 2011 Jun;47(2):71-8. doi: 10.1016/j.mcn.2010.10.002. Epub 2010 Oct 30.

9.

Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

Yum SW, Zhang J, Scherer SS.

Neurobiol Dis. 2010 May;38(2):226-36. doi: 10.1016/j.nbd.2010.01.010. Epub 2010 Jan 21.

10.

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

Yum SW, Zhang J, Mo K, Li J, Scherer SS.

Ann Neurol. 2009 Dec;66(6):759-70. doi: 10.1002/ana.21728.

PMID:
20039262
11.

Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy.

Collie AM, Landsverk ML, Ruzzo E, Mefford HC, Buysse K, Adkins JR, Knutzen DM, Barnett K, Brown RH Jr, Parry GJ, Yum SW, Simpson DA, Olney RK, Chinnery PF, Eichler EE, Chance PF, Hannibal MC.

J Med Genet. 2010 Sep;47(9):601-7. doi: 10.1136/jmg.2009.072348. Epub 2009 Nov 25.

PMID:
19939853
12.

Usage of a fixed dose of radioactive iodine for the treatment of hyperthyroidism: one-year outcome in a regional hospital in Hong Kong.

Yau JS, Chu KS, Li JK, Chan KW, Lau IT, Yum SW, Chan CW, Mo LK, Kwan WK.

Hong Kong Med J. 2009 Aug;15(4):267-73.

13.

Human connexin26 and connexin30 form functional heteromeric and heterotypic channels.

Yum SW, Zhang J, Valiunas V, Kanaporis G, Brink PR, White TW, Scherer SS.

Am J Physiol Cell Physiol. 2007 Sep;293(3):C1032-48. Epub 2007 Jul 5.

14.

Diverse trafficking abnormalities of connexin32 mutants causing CMTX.

Yum SW, Kleopa KA, Shumas S, Scherer SS.

Neurobiol Dis. 2002 Oct;11(1):43-52.

PMID:
12460545
15.

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.

Kleopa KA, Yum SW, Scherer SS.

J Neurosci Res. 2002 Jun 1;68(5):522-34.

PMID:
12111842
16.

Autosomal dominant transmission of Dejerine-Sottas disease (HMSN III).

Lynch DR, Hara H, Yum SW, Chance PF, Scherer SS, Bird SJ, Fischbeck KH.

Neurology. 1997 Aug;49(2):601-3.

PMID:
9270606
17.

Effects of TRH-analog treatment on tissue cations, phospholipids and energy metabolism after spinal cord injury.

Faden AI, Yum SW, Lemke M, Vink R.

J Pharmacol Exp Ther. 1990 Nov;255(2):608-14.

PMID:
2123006
18.

Lipid alterations correlate with tissue magnesium decrease following impact trauma in rabbit spinal cord.

Lemke M, Yum SW, Faden AI.

Mol Chem Neuropathol. 1990 Jun;12(3):147-65.

PMID:
2128684
20.

Alteration in extracellular amino acids after traumatic spinal cord injury.

Panter SS, Yum SW, Faden AI.

Ann Neurol. 1990 Jan;27(1):96-9.

PMID:
2301932
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