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Items: 1 to 20 of 26

1.

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature.

Ho B, MacKenzie J, Walia J, Geraghty M, Smith G, Nedvidek J, Guerin A.

JIMD Rep. 2019 Mar 14;46(1):28-34. doi: 10.1002/jmd2.12025. eCollection 2019 Mar.

2.

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM.

N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627.

PMID:
30970188
3.

VNUT and VMAT2 segregate within sympathetic varicosities and localize near preferred Cav2 isoforms in the rat tail artery.

Mojard Kalkhoran S, Chow SHJ, Walia JS, Gershome C, Saraev N, Kim B, Poburko D.

Am J Physiol Heart Circ Physiol. 2019 Jan 1;316(1):H89-H105. doi: 10.1152/ajpheart.00560.2018. Epub 2018 Oct 12.

PMID:
30556767
4.

Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model.

Woodley E, Osmon KJL, Thompson P, Richmond C, Chen Z, Gray SJ, Walia JS.

Mol Ther Methods Clin Dev. 2018 Oct 26;12:47-57. doi: 10.1016/j.omtm.2018.10.011. eCollection 2019 Mar 15.

5.

Telocytes as possible precursors of PDGFRA-mutant gastrointestinal mesenchymal tumors-reply to rejoinder.

Manley P, Walia J, Kirsch R, Riddell R.

Hum Pathol. 2019 Feb;84:337-338. doi: 10.1016/j.humpath.2018.08.036. Epub 2018 Oct 17. No abstract available.

PMID:
30339967
6.

VNUT and VMAT2 segregate within sympathetic varicosities and localize near preferred Cav2 isoforms in the rat tail artery.

Mojard Kalkhoran S, Chow SHJ, Walia JS, Gershome C, Saraev N, Kim B, Poburko D.

Am J Physiol Heart Circ Physiol. 2019 Jan 1;316(1):H89-H105. doi: 10.1152/ajpheart.00560.2018. Epub 2018 Oct 12.

PMID:
30311774
7.

Telocytes as possible precursors of PDGFRA-mutant gastrointestinal mesenchymal tumors-reply.

Manley P, Kirsch R, Walia JS, Riddell R.

Hum Pathol. 2018 Dec;82:299-300. doi: 10.1016/j.humpath.2018.04.035. Epub 2018 Jul 5. No abstract available.

PMID:
29981768
8.

Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.

Lorenzo M, Stolte-Dijkstra I, van Rheenen P, Smith RG, Scheers T, Walia JS.

Am J Med Genet A. 2018 Jun;176(6):1455-1462. doi: 10.1002/ajmg.a.38667. Epub 2018 Apr 25. Review.

PMID:
29693785
9.

Familial PDGFRA-mutation syndrome: somatic and gastrointestinal phenotype.

Manley PN, Abu-Abed S, Kirsch R, Hawrysh A, Perrier N, Feilotter H, Pollett A, Riddell RH, Hookey L, Walia JS.

Hum Pathol. 2018 Jun;76:52-57. doi: 10.1016/j.humpath.2018.02.014. Epub 2018 Feb 25.

PMID:
29486293
10.

Battery of Behavioral Tests Assessing General Locomotion, Muscular Strength, and Coordination in Mice.

Osmon KJ, Vyas M, Woodley E, Thompson P, Walia JS.

J Vis Exp. 2018 Jan 23;(131). doi: 10.3791/55491.

PMID:
29443024
11.

PARP Inhibitor Drugs in the Treatment of Breast, Ovarian, Prostate and Pancreatic Cancers: An Update of Clinical Trials.

Kamel D, Gray C, Walia JS, Kumar V.

Curr Drug Targets. 2018;19(1):21-37. doi: 10.2174/1389450118666170711151518. Review.

PMID:
28699513
12.

Clinical evaluation of R860Q semi-conservative amino acid substitution in CACNA1C gene in association with long QT syndrome.

Boles U, Simpson C, Gul EE, Kiss C, Enriquez A, Jia Z, Baranchuk A, Walia JS.

Int J Cardiol Heart Vasc. 2017 Apr 10;15:21-23. doi: 10.1016/j.ijcha.2017.03.006. eCollection 2017 Jun. No abstract available.

13.

Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome?

Woolnough R, Dhawan A, Dow K, Walia JS.

Pediatrics. 2017 Mar;139(3). pii: e20161281. doi: 10.1542/peds.2016-1281. Epub 2017 Feb 16.

14.

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Siddiq S, Wilson BJ, Graham ID, Lamoureux M, Khangura SD, Tingley K, Tessier L, Chakraborty P, Coyle D, Dyack S, Gillis J, Greenberg C, Hayeems RZ, Jain-Ghai S, Kronick JB, Laberge AM, Little J, Mitchell JJ, Prasad C, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Trakadis Y, Wafa S, Walia J, Wilson K, Yuskiv N, Potter BK; Canadian Inherited Metabolic Diseases Research Network (CIMDRN).

Orphanet J Rare Dis. 2016 Dec 7;11(1):168.

15.

Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice.

Osmon KJ, Woodley E, Thompson P, Ong K, Karumuthil-Melethil S, Keimel JG, Mark BL, Mahuran D, Gray SJ, Walia JS.

Hum Gene Ther. 2016 Jul;27(7):497-508. doi: 10.1089/hum.2016.015.

PMID:
27199088
16.

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease.

Karumuthil-Melethil S, Nagabhushan Kalburgi S, Thompson P, Tropak M, Kaytor MD, Keimel JG, Mark BL, Mahuran D, Walia JS, Gray SJ.

Hum Gene Ther. 2016 Jul;27(7):509-21. doi: 10.1089/hum.2016.013.

17.

Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo.

Tropak MB, Yonekawa S, Karumuthil-Melethil S, Thompson P, Wakarchuk W, Gray SJ, Walia JS, Mark BL, Mahuran D.

Mol Ther Methods Clin Dev. 2016 Mar 2;3:15057. doi: 10.1038/mtm.2015.57. eCollection 2016.

18.

Eligibility Criteria and Genetic Testing Results from a High-Risk Cohort for Hereditary Breast and Ovarian Cancer Syndrome in Southeastern Ontario.

Dos Santos Vidal R, Hawrysh A, Walia JS, Davey S, Feilotter H.

J Mol Diagn. 2016 May;18(3):362-369. doi: 10.1016/j.jmoldx.2015.11.007.

PMID:
26941049
19.

Long-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonates.

Walia JS, Altaleb N, Bello A, Kruck C, LaFave MC, Varshney GK, Burgess SM, Chowdhury B, Hurlbut D, Hemming R, Kobinger GP, Triggs-Raine B.

Mol Ther. 2015 Mar;23(3):414-22. doi: 10.1038/mt.2014.240. Epub 2014 Dec 17.

20.

Autologous transplantation of lentivector/acid ceramidase-transduced hematopoietic cells in nonhuman primates.

Walia JS, Neschadim A, Lopez-Perez O, Alayoubi A, Fan X, Carpentier S, Madden M, Lee CJ, Cheung F, Jaffray DA, Levade T, McCart JA, Medin JA.

Hum Gene Ther. 2011 Jun;22(6):679-87. doi: 10.1089/hum.2010.195. Epub 2011 Mar 25.

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