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Items: 43

1.

A multidisciplinary approach to dosing nusinersen for spinal muscular atrophy.

Zingariello CD, Brandsema J, Drum E, Henderson AA, Dubow S, Glanzman AM, Mayer O, Yum SW, Kichula EA.

Neurol Clin Pract. 2019 Oct;9(5):424-432. doi: 10.1212/CPJ.0000000000000718.

PMID:
31750028
2.

Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy.

Ahrens-Nicklas RC, Pappas CT, Farman GP, Mayfield RM, Larrinaga TM, Medne L, Ritter A, Krantz ID, Murali C, Lin KY, Berger JH, Yum SW, Carreon CK, Gregorio CC.

Sci Adv. 2019 Sep 4;5(9):eaax2066. doi: 10.1126/sciadv.aax2066. eCollection 2019 Sep.

3.

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH.

Arch Dis Child. 2019 Sep 4. pii: archdischild-2019-317910. doi: 10.1136/archdischild-2019-317910. [Epub ahead of print]

PMID:
31484632
4.

Balance impairment in pediatric charcot-marie-tooth disease.

Estilow T, Glanzman AM, Burns J, Harrington A, Cornett K, Menezes MP, Shy R, Moroni I, Pagliano E, Pareyson D, Bhandari T, Muntoni F, Laurá M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Troutman G, Bray P, Halaki M, Shy ME, Yum SW; CMTPedS STUDY GROUP.

Muscle Nerve. 2019 Sep;60(3):242-249. doi: 10.1002/mus.26500. Epub 2019 May 15.

PMID:
31026080
5.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, 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.

J Neuromuscul Dis. 2019;6(2):201-211. doi: 10.3233/JND-190377.

6.

Thoracoscopic thymectomy for juvenile myasthenia gravis.

Kim AG, Upah SA, Brandsema JF, Yum SW, Blinman TA.

Pediatr Surg Int. 2019 May;35(5):603-610. doi: 10.1007/s00383-019-04441-0. Epub 2019 Feb 7.

7.

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.

Tao F, Beecham GW, Rebelo AP, Svaren J, Blanton SH, Moran JJ, Lopez-Anido C, 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 Mar;85(3):316-330. doi: 10.1002/ana.25426.

PMID:
30706531
8.

Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O.

Brain. 2019 Apr 1;142(4):e14. doi: 10.1093/brain/awy332. No abstract available.

9.

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O.

Brain. 2018 Dec 1;141(12):3319-3330. doi: 10.1093/brain/awy280. Erratum in: Brain. 2019 Apr 1;142(4):e14.

10.

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.

Wang CC, Ortiz-González XR, Yum SW, Gill SM, White A, Kelter E, Seaver LH, Lee S, Wiley G, Gaffney PM, Wierenga KJ, Rasband MN.

Am J Hum Genet. 2018 Jun 7;102(6):1158-1168. doi: 10.1016/j.ajhg.2018.04.012. Epub 2018 May 31.

11.

Use of the Wilmington Robotic Exoskeleton to Improve Upper Extremity Function in Patients With Duchenne Muscular Dystrophy.

Estilow T, Glanzman AM, Powers K, Moll A, Flickinger J, Medne L, Tennekoon G, Yum SW.

Am J Occup Ther. 2018 Mar/Apr;72(2):7202345010p1-7202345010p5. doi: 10.5014/ajot.2018.022939.

PMID:
29426391
12.

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.

Ortiz-González XR, Tintos-Hernández JA, Keller K, Li X, Foley AR, Bharucha-Goebel DX, Kessler SK, Yum SW, Crino PB, He M, Wallace DC, Bönnemann CG.

Ann Neurol. 2018 Jan;83(1):153-165. doi: 10.1002/ana.25130.

13.

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.

Beggs AH, Byrne BJ, De Chastonay S, Haselkorn T, Hughes I, James ES, Kuntz NL, Simon J, Swanson LC, Yang ML, Yu ZF, Yum SW, Prasad S.

Muscle Nerve. 2018 Apr;57(4):550-560. doi: 10.1002/mus.26018. Epub 2017 Dec 22.

14.

The maximum standardized uptake value of preoperative positron emission tomography/computed tomography in lung adenocarcinoma with a ground-glass opacity component of less than 30 mm.

Son BY, Cho S, Yum SW, Kim K, Jheon S.

J Surg Oncol. 2018 Mar;117(3):451-456. doi: 10.1002/jso.24857. Epub 2017 Nov 11.

PMID:
29127699
15.

Natural history of Charcot-Marie-Tooth disease during childhood.

Cornett KMD, Menezes MP, Shy RR, Moroni I, Pagliano E, Pareyson D, Estilow T, Yum SW, Bhandari T, Muntoni F, Laura M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Bray P, Halaki M, Shy ME, Burns J; CMTPedS Study Group.

Ann Neurol. 2017 Sep;82(3):353-359. doi: 10.1002/ana.25009.

PMID:
28796392
16.

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.

17.

Evaluation of the reliability of the Cutaneous Dermatomyositis Disease Area and Severity Index and the Cutaneous Assessment Tool-Binary Method in juvenile dermatomyositis among paediatric dermatologists, rheumatologists and neurologists.

Tiao J, Feng R, Berger EM, Brandsema JF, Coughlin CC, Khan N, Kichula EA, Lerman MA, Lvovich S, McMahon PJ, Rider LG, Rubin AI, Scalzi LV, Smith DM, Taxter AJ, Treat JR, Williams RP, Yum SW, Okawa J, Werth VP.

Br J Dermatol. 2017 Oct;177(4):1086-1092. doi: 10.1111/bjd.15596. Epub 2017 Jul 31.

18.

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laurá M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden J, Eichinger KJ, Herrmann DN, Shy ME, Burns J; Inherited Neuropathies Consortium.

JAMA Neurol. 2016 Jun 1;73(6):645-51. doi: 10.1001/jamaneurol.2016.0171.

19.

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.

20.

A 6-Year-Old With Leg Cramps.

Jenssen BP, Lautz AJ, Orthmann-Murphy JL, Yum SW, Waanders A, Fox E.

Pediatrics. 2015 Oct;136(4):732-9. doi: 10.1542/peds.2015-0332. Epub 2015 Sep 14.

21.

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.

22.

Comprehensive analysis of metastatic N1 lymph nodes in completely resected non-small-cell lung cancer.

Park S, Cho S, Yum SW, Kim K, Jheon S.

Interact Cardiovasc Thorac Surg. 2015 Nov;21(5):624-9. doi: 10.1093/icvts/ivv209. Epub 2015 Aug 4.

PMID:
26242319
23.

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.

24.

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.

25.

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.

26.

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.

27.

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
28.

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.

29.

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.

30.

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.

31.

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.

32.

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.

33.

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
34.

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.

35.

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.

36.

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
37.

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
38.

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
39.

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
40.

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
42.

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
43.

Traumatic spinal cord injury in rabbits decreases intracellular free magnesium concentration as measured by 31P MRS.

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

Brain Res. 1989 Jun 19;490(1):144-7.

PMID:
2758321

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