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Items: 1 to 50 of 203

1.

The Epidemiology and Management of Exertional Heat Illnesses in High School Sports During the 2012/2013-2016/2017 Academic Years.

Kerr ZY, Yeargin SW, Hosokawa Y, Hirschhorn RM, Pierpoint LA, Casa DJ.

J Sport Rehabil. 2019 Jun 6:1-7. doi: 10.1123/jsr.2018-0364. [Epub ahead of print]

PMID:
30747580
2.

Epidemiology of Exertional Heat Illnesses in National Collegiate Athletic Association Athletes During the 2009-2010 Through 2014-2015 Academic Years.

Yeargin SW, Dompier TP, Casa DJ, Hirschhorn RM, Kerr ZY.

J Athl Train. 2019 Jan;54(1):55-63. doi: 10.4085/1062-6050-504-17. Epub 2019 Jan 22.

PMID:
30668925
3.

"Real-life" continuous flash suppression (CFS)-CFS with real-world objects using augmented reality goggles.

Korisky U, Hirschhorn R, Mudrik L.

Behav Res Methods. 2018 Nov 14. doi: 10.3758/s13428-018-1162-0. [Epub ahead of print]

PMID:
30430349
4.

Epidemiology of Injuries Requiring Emergency Transport Among Collegiate and High School Student-Athletes.

Hirschhorn RM, Kerr ZY, Wasserman EB, Kay MC, Clifton DR, Dompier TP, Yeargin SW.

J Athl Train. 2018 Sep;53(9):906-914. doi: 10.4085/1062-6050-340-17. Epub 2018 Oct 4.

PMID:
30284458
5.

A Conversation with Kurt and Rochelle Hirschhorn.

Hirschhorn K, Hirschhorn R, Hirschhorn JN.

Annu Rev Genomics Hum Genet. 2017 Aug 31;18:31-44. doi: 10.1146/annurev-genom-080316-090927. Epub 2017 Jan 26.

PMID:
28142260
6.

2013 Victor A. McKusick Leadership Award Addresses.

Hirschhorn K, Hirschhorn R.

Am J Hum Genet. 2014 Mar 6;94(3):336-7. doi: 10.1016/j.ajhg.2013.12.006. No abstract available.

7.

De minimis risk: a proposal for a new category of research risk.

Rhodes R, Azzouni J, Baumrin SB, Benkov K, Blaser MJ, Brenner B, Dauben JW, Earle WJ, Frank L, Gligorov N, Goldfarb J, Hirschhorn K, Hirschhorn R, Holzman I, Indyk D, Jabs EW, Lackey DP, Moros DA, Philpott S, Rhodes ME, Richardson LD, Sacks HS, Schwab A, Sperling R, Trusko B, Zweig A.

Am J Bioeth. 2011 Nov;11(11):1-7. doi: 10.1080/15265161.2011.615588. No abstract available.

PMID:
22047112
8.

Cysteine proteases bleomycin hydrolase and cathepsin Z mediate N-terminal proteolysis and toxicity of mutant huntingtin.

Ratovitski T, Chighladze E, Waldron E, Hirschhorn RR, Ross CA.

J Biol Chem. 2011 Apr 8;286(14):12578-89. doi: 10.1074/jbc.M110.185348. Epub 2011 Feb 10.

9.

ATF3 plays a protective role against toxicity by N-terminal fragment of mutant huntingtin in stable PC12 cell line.

Liang Y, Jiang H, Ratovitski T, Jie C, Nakamura M, Hirschhorn RR, Wang X, Smith WW, Hai T, Poirier MA, Ross CA.

Brain Res. 2009 Aug 25;1286:221-9. doi: 10.1016/j.brainres.2009.06.049. Epub 2009 Jun 24.

10.

Mutant huntingtin N-terminal fragments of specific size mediate aggregation and toxicity in neuronal cells.

Ratovitski T, Gucek M, Jiang H, Chighladze E, Waldron E, D'Ambola J, Hou Z, Liang Y, Poirier MA, Hirschhorn RR, Graham R, Hayden MR, Cole RN, Ross CA.

J Biol Chem. 2009 Apr 17;284(16):10855-67. doi: 10.1074/jbc.M804813200. Epub 2009 Feb 9.

11.

N-terminal proteolysis of full-length mutant huntingtin in an inducible PC12 cell model of Huntington's disease.

Ratovitski T, Nakamura M, D'Ambola J, Chighladze E, Liang Y, Wang W, Graham R, Hayden MR, Borchelt DR, Hirschhorn RR, Ross CA.

Cell Cycle. 2007 Dec 1;6(23):2970-81.

PMID:
18156806
12.

Huntingtin phosphorylation sites mapped by mass spectrometry. Modulation of cleavage and toxicity.

Schilling B, Gafni J, Torcassi C, Cong X, Row RH, LaFevre-Bernt MA, Cusack MP, Ratovitski T, Hirschhorn R, Ross CA, Gibson BW, Ellerby LM.

J Biol Chem. 2006 Aug 18;281(33):23686-97. Epub 2006 Jun 16.

13.

In vivo reversion to normal of inherited mutations in humans.

Hirschhorn R.

J Med Genet. 2003 Oct;40(10):721-8. Review.

14.
15.

Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31.

Hirschhorn R, Huie ML, Kasper JS.

Proc Natl Acad Sci U S A. 2002 Oct 15;99(21):13642-6. Epub 2002 Oct 7.

17.

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

Fernandez-Hojas R, Huie ML, Navarro C, Dominguez C, Roig M, Lopez-Coronas D, Teijeira S, Anyane-Yeboa K, Hirschhorn R.

Neuromuscul Disord. 2002 Feb;12(2):159-66. Erratum in: Neuromuscul Disord. 2003 Jun;13(5):427.

PMID:
11738358
18.

SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency.

Meek K, Kienker L, Dallas C, Wang W, Dark MJ, Venta PJ, Huie ML, Hirschhorn R, Bell T.

J Immunol. 2001 Aug 15;167(4):2142-50.

19.

Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease.

Pauly DF, Fraites TJ, Toma C, Bayes HS, Huie ML, Hirschhorn R, Plotz PH, Raben N, Kessler PD, Byrne BJ.

Hum Gene Ther. 2001 Mar 20;12(5):527-38.

PMID:
11268285
20.

Frequent mutations in Japanese patients with acid maltase deficiency.

Tsujino S, Huie M, Kanazawa N, Sugie H, Goto Y, Kawai M, Nonaka I, Hirschhorn R, Sakuragawa N.

Neuromuscul Disord. 2000 Dec;10(8):599-603.

PMID:
11053688
21.

Impact of a design modification in modern firefighting uniforms on burn prevention outcomes in New York City firefighters.

Prezant DJ, Freeman K, Kelly KJ, Malley KS, Karwa ML, McLaughlin MT, Hirschhorn R, Brown A.

J Occup Environ Med. 2000 Aug;42(8):827-34.

PMID:
10953821
22.

Identification of risk factors in rat bite incidents involving humans.

Hirschhorn RB, Hodge RR.

Pediatrics. 1999 Sep;104(3):e35. Review.

PMID:
10469818
23.

Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.

Huie ML, Kasper JS, Arn PH, Greenberg CR, Hirschhorn R.

Am J Med Genet. 1999 Jul 2;85(1):5-8. Erratum in: Am J Med Genet. 2005 Aug 15;137(1):114.

PMID:
10377006
24.

Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturation.

Ponce E, Witte DP, Hirschhorn R, Huie ML, Grabowski GA.

Am J Pathol. 1999 Apr;154(4):1089-96.

25.
26.

A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII).

Huie ML, Shanske AL, Kasper JS, Marion RW, Hirschhorn R.

Hum Genet. 1999 Jan;104(1):94-8.

PMID:
10071199
28.

Reverse mutations--spontaneous amelioration or cure of inherited disorders?

Wahn V, Stephan V, Hirschhorn R.

Eur J Pediatr. 1998 Aug;157(8):613-7. Review.

PMID:
9727841
29.

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

Becker JA, Vlach J, Raben N, Nagaraju K, Adams EM, Hermans MM, Reuser AJ, Brooks SS, Tifft CJ, Hirschhorn R, Huie ML, Nicolino M, Plotz PH.

Am J Hum Genet. 1998 Apr;62(4):991-4. No abstract available.

30.

Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.

Huie ML, Tsujino S, Sklower Brooks S, Engel A, Elias E, Bonthron DT, Bessley C, Shanske S, DiMauro S, Goto YI, Hirschhorn R.

Biochem Biophys Res Commun. 1998 Mar 27;244(3):921-7.

PMID:
9535769
31.
32.

Wound healing is accelerated by agonists of adenosine A2 (G alpha s-linked) receptors.

Montesinos MC, Gadangi P, Longaker M, Sung J, Levine J, Nilsen D, Reibman J, Li M, Jiang CK, Hirschhorn R, Recht PA, Ostad E, Levin RI, Cronstein BN.

J Exp Med. 1997 Nov 3;186(9):1615-20.

34.

Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).

Huie ML, Menaker M, McAlpine PJ, Hirschhorn R.

Ann Hum Genet. 1996 Sep;60(5):365-8.

PMID:
8912788
35.

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.

Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang CK, Kurlandsky LE.

Nat Genet. 1996 Jul;13(3):290-5.

PMID:
8673127
36.
37.

Adenosine deaminase deficiency: molecular basis and recent developments.

Hirschhorn R.

Clin Immunol Immunopathol. 1995 Sep;76(3 Pt 2):S219-27. Review. No abstract available.

PMID:
7554472
38.
39.

Evidence of molecular heterogeneity for generalised glycogenosis between and within breeds of cattle.

Healy PJ, Nicholls PJ, Martiniuk F, Tzall S, Hirschhorn R, Howell JM.

Aust Vet J. 1995 Aug;72(8):309-11.

PMID:
8579563
40.

Regulation of human gene therapy.

Chase GA, DeLeon PA, Dronamraju KR, Erickson RP, Glorioso JC 3rd, Hirschhorn R, Lysaught MT, McGraw KM, Meyers AS, Miller AD, et al.

Science. 1995 Jul 7;269(5220):14-5. No abstract available.

PMID:
7604272
41.

Genetic mosaicism: what Gregor Mendel didn't know.

Hirschhorn R.

J Clin Invest. 1995 Feb;95(2):443-4. No abstract available.

42.
44.
46.
48.

Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).

Huie ML, Hirschhorn R, Chen AS, Martiniuk F, Zhong N.

Hum Mutat. 1994;4(4):291-3. No abstract available.

PMID:
7866409
49.

Gene expression in a temperature-sensitive mutant of the cell cycle.

Hirschhorn RR.

SAAS Bull Biochem Biotechnol. 1994;7:31-5.

PMID:
7765155
50.

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