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Items: 1 to 20 of 22

1.

Application of risk score analysis to low-coverage whole genome sequencing data for the noninvasive detection of trisomy 21, trisomy 18, and trisomy 13.

Tynan JA, Kim SK, Mazloom AR, Zhao C, McLennan G, Tim R, Liu L, Hannum G, Hull A, Bombard AT, Oeth P, Burcham T, van den Boom D, Ehrich M.

Prenat Diagn. 2016 Jan;36(1):56-62. doi: 10.1002/pd.4712. Epub 2015 Dec 23.

PMID:
26505614
2.

Two phase 3 trials of bapineuzumab in mild-to-moderate Alzheimer's disease.

Salloway S, Sperling R, Fox NC, Blennow K, Klunk W, Raskind M, Sabbagh M, Honig LS, Porsteinsson AP, Ferris S, Reichert M, Ketter N, Nejadnik B, Guenzler V, Miloslavsky M, Wang D, Lu Y, Lull J, Tudor IC, Liu E, Grundman M, Yuen E, Black R, Brashear HR; Bapineuzumab 301 and 302 Clinical Trial Investigators..

N Engl J Med. 2014 Jan 23;370(4):322-33. doi: 10.1056/NEJMoa1304839.

3.

High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma.

Jensen TJ, Zwiefelhofer T, Tim RC, Džakula Ž, Kim SK, Mazloom AR, Zhu Z, Tynan J, Lu T, McLennan G, Palomaki GE, Canick JA, Oeth P, Deciu C, van den Boom D, Ehrich M.

PLoS One. 2013;8(3):e57381. doi: 10.1371/journal.pone.0057381. Epub 2013 Mar 6.

4.

Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting.

Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D.

Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11. doi: 10.1016/j.ajog.2010.12.060. Epub 2011 Feb 18.

PMID:
21310373
5.

Natalizumab plus interferon beta-1a reduces lesion formation in relapsing multiple sclerosis.

Radue EW, Stuart WH, Calabresi PA, Confavreux C, Galetta SL, Rudick RA, Lublin FD, Weinstock-Guttman B, Wynn DR, Fisher E, Papadopoulou A, Lynn F, Panzara MA, Sandrock AW; SENTINEL Investigators..

J Neurol Sci. 2010 May 15;292(1-2):28-35. doi: 10.1016/j.jns.2010.02.012. Epub 2010 Mar 16.

PMID:
20236661
6.

Clinical aspects of ALS in Gulf War veterans.

Kasarskis EJ, Lindquist JH, Coffman CJ, Grambow SC, Feussner JR, Allen KD, Oddone EZ, Kamins KA, Horner RD; Als Gulf War Clinical Review Team..

Amyotroph Lateral Scler. 2009 Feb;10(1):35-41. doi: 10.1080/17482960802351029.

PMID:
18792848
7.

Occurrence of amyotrophic lateral sclerosis among Gulf War veterans.

Horner RD, Kamins KG, Feussner JR, Grambow SC, Hoff-Lindquist J, Harati Y, Mitsumoto H, Pascuzzi R, Spencer PS, Tim R, Howard D, Smith TC, Ryan MA, Coffman CJ, Kasarskis EJ.

Neurology. 2003 Sep 23;61(6):742-9. Review. Erratum in: Neurology. 2003 Nov 11;61(9):1320.

PMID:
14504315
8.

Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy.

Tim RW, Gilbert JR, Stajich JM, Rampersaud E, Viles KD, Tawil R, Padberg GW, Frants R, van der Maarel S, Bossen EH, Friedman AH, Pericak-Vance MA, Speer MC.

J Clin Neuromuscul Dis. 2001 Sep;3(1):1-7.

PMID:
19078645
9.

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia.

Ashley-Koch A, Bonner ER, Gaskell PC, West SG, Tim R, Wolpert CM, Jones R, Farrell CD, Nance M, Svenson IK, Marchuk DA, Boustany RM, Vance JM, Scott WK, Pericak-Vance MA.

Neurogenetics. 2001 Mar;3(2):91-7.

PMID:
11354831
11.

Myotilin is mutated in limb girdle muscular dystrophy 1A.

Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC.

Hum Mol Genet. 2000 Sep 1;9(14):2141-7.

PMID:
10958653
12.

Lambert-Eaton myasthenic syndrome: electrodiagnostic findings and response to treatment.

Tim RW, Massey JM, Sanders DB.

Neurology. 2000 Jun 13;54(11):2176-8.

PMID:
10851390
13.

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.

Pericak-Vance MA, Speer MC, Lennon F, West SG, Menold MM, Stajich JM, Wolpert CM, Slotterbeck BD, Saito M, Tim RW, Rozear MP, Middleton LT, Tsuji S, Vance JM.

Neurogenetics. 1997 Sep;1(2):89-93.

PMID:
10732809
15.

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.

Speer MC, Vance JM, Grubber JM, Lennon Graham F, Stajich JM, Viles KD, Rogala A, McMichael R, Chutkow J, Goldsmith C, Tim RW, Pericak-Vance MA.

Am J Hum Genet. 1999 Feb;64(2):556-62.

16.

A "liver test" is not a liver test. Measuring serum creatine kinase can identify muscular dystrophy and avoid liver biopsy.

Tim RW, Gaskell P, Stajich J.

N C Med J. 1998 Jul-Aug;59(4):238-41. No abstract available.

PMID:
9682593
17.

Lambert-Eaton myasthenic syndrome (LEMS). Clinical and electrodiagnostic features and response to therapy in 59 patients.

Tim RW, Massey JM, Sanders DB.

Ann N Y Acad Sci. 1998 May 13;841:823-6. No abstract available.

PMID:
9668336
18.

Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B.

Vance JM, Speer MC, Stajich JM, West S, Wolpert C, Gaskell P, Lennon F, Tim RM, Rozear M, Othmane KB, et al.

Am J Hum Genet. 1996 Jul;59(1):258-62. No abstract available.

19.

Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.

Hentati A, Deng HX, Hung WY, Nayer M, Ahmed MS, He X, Tim R, Stumpf DA, Siddique T, Ahmed.

Ann Neurol. 1996 Mar;39(3):295-300.

PMID:
8602747
20.

Repetitive nerve stimulation studies in the Lambert-Eaton myasthenic syndrome.

Tim RW, Sanders DB.

Muscle Nerve. 1994 Sep;17(9):995-1001.

PMID:
8065402

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