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Items: 1 to 50 of 76

1.

Peripherally derived macrophages as major phagocytes in MOG encephalomyelitis.

Kwon YN, Waters PJ, Kim M, Choi YS, Kim JW, Sung JJ, Park SH, Kim SM.

Neurol Neuroimmunol Neuroinflamm. 2019 Aug 1;6(5). pii: e600. doi: 10.1212/NXI.0000000000000600. Print 2019 Sep. No abstract available.

2.

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.

Levtova A, Waters PJ, Buhas D, Lévesque S, Auray-Blais C, Clarke JTR, Laframboise R, Maranda B, Mitchell GA, Brunel-Guitton C, Braverman NE.

J Inherit Metab Dis. 2019 Jan;42(1):107-116. doi: 10.1002/jimd.12032.

PMID:
30740739
3.

A multicenter comparison of MOG-IgG cell-based assays.

Waters PJ, Komorowski L, Woodhall M, Lederer S, Majed M, Fryer J, Mills J, Flanagan EP, Irani SR, Kunchok AC, McKeon A, Pittock SJ.

Neurology. 2019 Mar 12;92(11):e1250-e1255. doi: 10.1212/WNL.0000000000007096. Epub 2019 Feb 6.

4.

Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy.

Kitzler TM, Gupta IR, Osterman B, Poulin C, Trakadis Y, Waters PJ, Buhas DC.

JIMD Rep. 2019;45:57-63. doi: 10.1007/8904_2018_136. Epub 2018 Oct 23.

5.

Glutamate receptor δ2 serum antibodies in pediatric opsoclonus myoclonus ataxia syndrome.

Berridge G, Menassa DA, Moloney T, Waters PJ, Welding I, Thomsen S, Zuberi S, Fischer R, Aricescu AR, Pike M, Dale RC, Kessler B, Vincent A, Lim M, Irani SR, Lang B.

Neurology. 2018 Aug 21;91(8):e714-e723. doi: 10.1212/WNL.0000000000006035. Epub 2018 Jul 25.

6.

Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data.

Thuriot F, Buote C, Gravel E, Chénier S, Désilets V, Maranda B, Waters PJ, Jacques PE, Lévesque S.

Genet Med. 2018 Sep;20(9):942-949. doi: 10.1038/gim.2017.239. Epub 2018 Feb 1.

PMID:
29388948
7.

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles.

Yang H, Rossignol F, Cyr D, Laframboise R, Wang SP, Soucy JF, Berthier MT, Giguère Y, Waters PJ, Mitchell GA; Québec NTBC Study Group.

Mol Genet Metab Rep. 2017 Dec 27;14:55-58. doi: 10.1016/j.ymgmr.2017.12.002. eCollection 2018 Mar.

8.

Vitamin B12 deficiency in inflammatory bowel disease: a prospective observational pilot study.

Battat R, Kopylov U, Byer J, Sewitch MJ, Rahme E, Nedjar H, Zelikovic E, Dionne S, Bessissow T, Afif W, Waters PJ, Seidman E, Bitton A.

Eur J Gastroenterol Hepatol. 2017 Dec;29(12):1361-1367. doi: 10.1097/MEG.0000000000000970.

PMID:
28953003
9.

Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.

Waters PJ, Kitzler TM, Feigenbaum A, Geraghty MT, Al-Dirbashi O, Bherer P, Auray-Blais C, Gravel S, McIntosh N, Siriwardena K, Trakadis Y, Brunel-Guitton C, Al-Hertani W.

JIMD Rep. 2018;39:89-96. doi: 10.1007/8904_2017_49. Epub 2017 Aug 2.

10.

G2A1B3AA receptor antibodies and their clinical associations.

Waters PJ, Irani SR.

Neurology. 2017 Mar 14;88(11):1010-1011. doi: 10.1212/WNL.0000000000003758. Epub 2017 Feb 15. No abstract available.

PMID:
28202698
11.

Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.

Yang H, Al-Hertani W, Cyr D, Laframboise R, Parizeault G, Wang SP, Rossignol F, Berthier MT, Giguère Y, Waters PJ, Mitchell GA; Québec NTBC Study Group.

J Med Genet. 2017 Apr;54(4):241-247. doi: 10.1136/jmedgenet-2016-104289. Epub 2016 Nov 22.

PMID:
27876694
12.

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.

Waters PJ, Thuriot F, Clarke JT, Gravel S, Watkins D, Rosenblatt DS, Lévesque S.

Mol Genet Metab Rep. 2016 Sep 24;9:19-24. eCollection 2016 Dec.

13.

Neurexin-3α: A new antibody target in autoimmune encephalitis.

Waters PJ, Irani SR.

Neurology. 2016 Jun 14;86(24):2222-3. doi: 10.1212/WNL.0000000000002781. Epub 2016 May 11. No abstract available.

PMID:
27170572
14.

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.

Lévesque S, Auray-Blais C, Gravel E, Boutin M, Dempsey-Nunez L, Jacques PE, Chenier S, Larue S, Rioux MF, Al-Hertani W, Nadeau A, Mathieu J, Maranda B, Désilets V, Waters PJ, Keutzer J, Austin S, Kishnani P.

Orphanet J Rare Dis. 2016 Jan 25;11:8. doi: 10.1186/s13023-016-0390-6.

15.

Myelin injury without astrocytopathy in neuroinflammatory disorders with MOG antibodies.

Kaneko K, Sato DK, Nakashima I, Nishiyama S, Tanaka S, Marignier R, Hyun JW, Oliveira LM, Reindl M, Seifert-Held T, Sepulveda M, Siritho S, Waters PJ, Kurosawa K, Akaishi T, Kuroda H, Misu T, Prayoonwiwat N, Berger T, Saiz A, Kim HJ, Nomura K, Callegaro D, Fujihara K, Aoki M.

J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1257-1259. doi: 10.1136/jnnp-2015-312676. Epub 2016 Jan 22. No abstract available.

PMID:
26800711
16.

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

Thompson Legault J, Strittmatter L, Tardif J, Sharma R, Tremblay-Vaillancourt V, Aubut C, Boucher G, Clish CB, Cyr D, Daneault C, Waters PJ; LSFC Consortium, Vachon L, Morin C, Laprise C, Rioux JD, Mootha VK, Des Rosiers C.

Cell Rep. 2015 Nov 3;13(5):981-9. doi: 10.1016/j.celrep.2015.09.054. Epub 2015 Oct 22.

17.

Update on biomarkers in neuromyelitis optica.

Melamed E, Levy M, Waters PJ, Sato DK, Bennett JL, John GR, Hooper DC, Saiz A, Bar-Or A, Kim HJ, Pandit L, Leite MI, Asgari N, Kissani N, Hintzen R, Marignier R, Jarius S, Marcelletti J, Smith TJ, Yeaman MR, Han MH, Aktas O, Apiwattanakul M, Banwell B, Bichuetti D, Broadley S, Cabre P, Chitnis T, De Seze J, Fujihara K, Greenberg B, Hellwig K, Iorio R, Jarius S, Klawiter E, Kleiter I, Lana-Peixoto M, Nakashima, O'Connor K, Palace J, Paul F, Prayoonwiwat N, Ruprecht K, Stuve O, Tedder T, Tenembaum S, Garrahan JP, Aires B, van Herle K, van Pelt D, Villoslada P, Waubant E, Weinshenker B, Wingerchuk D, Würfel J, Zamvil S.

Neurol Neuroimmunol Neuroinflamm. 2015 Jul 23;2(4):e134. doi: 10.1212/NXI.0000000000000134. eCollection 2015 Aug. Review.

18.

Struggling for breath in Sherbrooke - 1st Symposium on "One mitochondrion, many diseases" in Sherbrooke, Québec, Canada, March 11th, 2015.

Braun RJ, Dumit VI, Monpays C, Roucou X, Serrano D, St-Pierre J, Waters PJ, Bates I, Gris D.

Microb Cell. 2015 May 20;2(6):208-213. doi: 10.15698/mic2015.06.207. No abstract available.

19.

Anti-MOG antibodies with longitudinally extensive transverse myelitis preceded by CLIPPERS.

Symmonds M, Waters PJ, Küker W, Leite MI, Schulz UG.

Neurology. 2015 Mar 17;84(11):1177-9. doi: 10.1212/WNL.0000000000001370. Epub 2015 Feb 13. No abstract available.

20.

Evaluation of aquaporin-4 antibody assays.

Waters PJ, Pittock SJ, Bennett JL, Jarius S, Weinshenker BG, Wingerchuk DM.

Clin Exp Neuroimmunol. 2014 Oct;5(3):290-303. Epub 2014 Apr 22.

21.

Author response.

Sato DK, Takahashi T, Waters PJ, Fujihara K.

Neurology. 2014 Jul 29;83(5):475-6. No abstract available.

PMID:
25215376
22.

Immunoglobulin G antibodies to the N-Methyl-D-aspartate receptor are distinct from immunoglobulin A and immunoglobulin M responses.

Lancaster E, Leypoldt F, Titulaer MJ, Honnorat J, Waters PJ, Reindl M, Höftberger R.

Ann Neurol. 2015 Jan;77(1):183. doi: 10.1002/ana.24233. Epub 2014 Dec 4. No abstract available.

23.

Distinction between MOG antibody-positive and AQP4 antibody-positive NMO spectrum disorders.

Sato DK, Callegaro D, Lana-Peixoto MA, Waters PJ, de Haidar Jorge FM, Takahashi T, Nakashima I, Apostolos-Pereira SL, Talim N, Simm RF, Lino AM, Misu T, Leite MI, Aoki M, Fujihara K.

Neurology. 2014 Feb 11;82(6):474-81. doi: 10.1212/WNL.0000000000000101. Epub 2014 Jan 10.

24.

Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation.

Hannah-Shmouni F, Sirrs S, Mezei MM, Waters PJ, Mattman A.

JIMD Rep. 2014;12:17-23. doi: 10.1007/8904_2013_239. Epub 2013 Jul 12.

25.

Orbicularis oculi muscle biopsies for mitochondrial DNA analysis in suspected mitochondrial myopathy.

Roefs AM, Waters PJ, Moore GR, Dolman PJ.

Br J Ophthalmol. 2012 Oct;96(10):1296-9. Epub 2012 Aug 14.

PMID:
22893396
26.

Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

Coulter-Mackie MB, Li A, Lian Q, Struys E, Stockler S, Waters PJ.

Mol Genet Metab. 2012 Aug;106(4):478-81. doi: 10.1016/j.ymgme.2012.06.008. Epub 2012 Jun 22.

PMID:
22784480
27.

Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia.

Pfeffer G, Waters PJ, Maguire J, Vallance HD, Wong VA, Mezei MM.

Can J Neurol Sci. 2012 Jul;39(4):520-4.

PMID:
22728862
28.

Variability of phenotype in two sisters with pyridoxine dependent epilepsy.

Alfadhel M, Sirrs S, Waters PJ, Szeitz A, Struys E, Coulter-Mackie M, Stockler-Ipsiroglu S.

Can J Neurol Sci. 2012 Jul;39(4):516-9.

PMID:
22728861
29.

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, Nelson T, Waters PJ, Sargent M, Struys E, Jakobs C, Stockler-Ipsiroglu S, Connolly MB.

Pediatrics. 2012 May;129(5):e1368-72. doi: 10.1542/peds.2011-0123. Epub 2012 Apr 23.

PMID:
22529283
30.

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

Mills PB, Footitt EJ, Ceyhan S, Waters PJ, Jakobs C, Clayton PT, Struys EA.

J Inherit Metab Dis. 2012 Nov;35(6):1031-6. doi: 10.1007/s10545-012-9466-1. Epub 2012 Mar 9.

PMID:
22403017
31.

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.

Al-Thihli K, Ebrahim H, Hughes DA, Patel M, Tipple M, Salvarinova R, Gardiner J, Vallance H, Waters PJ.

Gene. 2012 Apr 15;497(2):320-2. doi: 10.1016/j.gene.2012.01.056. Epub 2012 Jan 31.

PMID:
22336178
32.

Serologic diagnosis of NMO: a multicenter comparison of aquaporin-4-IgG assays.

Waters PJ, McKeon A, Leite MI, Rajasekharan S, Lennon VA, Villalobos A, Palace J, Mandrekar JN, Vincent A, Bar-Or A, Pittock SJ.

Neurology. 2012 Feb 28;78(9):665-71; discussion 669. doi: 10.1212/WNL.0b013e318248dec1. Epub 2012 Feb 1.

33.

Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.

Horvath GA, Selby K, Poskitt K, Hyland K, Waters PJ, Coulter-Mackie M, Stockler-Ipsiroglu SG.

Cephalalgia. 2011 Nov;31(15):1580-6. doi: 10.1177/0333102411420584. Epub 2011 Oct 19.

PMID:
22013141
34.

Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.

Schrader KA, Heravi-Moussavi A, Waters PJ, Senz J, Whelan J, Ha G, Eydoux P, Nielsen T, Gallagher B, Oloumi A, Boyd N, Fernandez BA, Young TL, Jones SJ, Hirst M, Shah SP, Marra MA, Green J, Huntsman DG.

J Pathol. 2011 Sep;225(1):12-8. doi: 10.1002/path.2941.

PMID:
21792934
35.

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation.

Van Karnebeek CD, Waters PJ, Sargent MA, Mezei MM, Wong LJ, Wang J, Stöckler-Ipsiroglu S.

Dev Med Child Neurol. 2011 Jun;53(6):565-8. doi: 10.1111/j.1469-8749.2010.03907.x. Epub 2011 Apr 19. Erratum in: Dev Med Child Neurol. 2011 Aug;53(8):767. Mezey, Michelle M [corrected to Mezei, Michelle M].

36.

Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD.

Am J Med Genet A. 2011 Apr;155A(4):840-4. doi: 10.1002/ajmg.a.33881. Epub 2011 Mar 15. Review.

PMID:
21412973
37.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF.

Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004.

38.

Intracranial calcification after cord blood neonatal transplantation for krabbe disease.

Lehman AM, Schultz KR, Poskitt K, Bjornson B, Keyes R, Waters PJ, Clarke LA, Everett R, McConnell D, Stockler S.

Neuropediatrics. 2009 Aug;40(4):189-91. doi: 10.1055/s-0029-1243189. Epub 2010 Feb 4.

PMID:
20135576
39.

Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler.

Mercimek-Mahmutoglu S, Reilly C, Human D, Waters PJ, Stoeckler-Ipsiroglu S.

World J Pediatr. 2009 Nov;5(4):319-21. doi: 10.1007/s12519-009-0062-x. Epub 2009 Nov 13.

PMID:
19911152
40.

Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.

Rosenberg EH, Struys EA, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Gallagher RC, Scharer G, Van Hove JL, Jakobs C, Salomons GS.

Mol Genet Metab. 2009 Aug;97(4):312-4. doi: 10.1016/j.ymgme.2009.05.002. Epub 2009 May 13.

PMID:
19501531
41.

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.

Greenberg CR, Dilling LA, Thompson GR, Seargeant LE, Haworth JC, Phillips S, Chan A, Vallance HD, Waters PJ, Sinclair G, Lillquist Y, Wanders RJ, Olpin SE.

Mol Genet Metab. 2009 Apr;96(4):201-7. doi: 10.1016/j.ymgme.2008.12.018. Epub 2009 Feb 13.

PMID:
19217814
42.

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C.

Ann Neurol. 2009 May;65(5):550-6. doi: 10.1002/ana.21568.

PMID:
19142996
43.

Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.

Wang J, Brautbar A, Chan AK, Dzwiniel T, Li FY, Waters PJ, Graham BH, Wong LJ.

Mol Genet Metab. 2009 Feb;96(2):59-65. doi: 10.1016/j.ymgme.2008.10.006. Epub 2008 Dec 4.

PMID:
19062322
44.

Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI.

Brunetti-Pierri N, Selby K, O'Sullivan M, Hendson G, Truong C, Waters PJ, Wong LJ.

Neuropediatrics. 2008 Jun;39(3):179-83. doi: 10.1055/s-0028-1093334. Epub 2008 Nov 7.

PMID:
18991199
45.

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

Horvath GA, Davidson AG, Stockler-Ipsiroglu SG, Lillquist YP, Waters PJ, Olpin S, Andresen BS, Palaty J, Nelson J, Vallance H.

Can J Public Health. 2008 Jul-Aug;99(4):276-80.

PMID:
18767270
46.

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC.

Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824.

47.

Adhesive retention of silicone and chlorinated polyethylene for maxillofacial prostheses.

Kiat-Amnuay S, Waters PJ, Roberts D, Gettleman L.

J Prosthet Dent. 2008 Jun;99(6):483-8. doi: 10.1016/S0022-3913(08)60113-4.

PMID:
18514671
48.

Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.

Coulter-Mackie MB, Lian Q, Applegarth DA, Toone J, Waters PJ, Vallance H.

Clin Biochem. 2008 May;41(7-8):598-602. doi: 10.1016/j.clinbiochem.2008.01.018. Epub 2008 Feb 7.

PMID:
18282470
49.

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.

Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, Lillquist YP, Connolly M, Hyland K, Blau N, Rupar T, Waters PJ.

Mol Genet Metab. 2008 May;94(1):127-31. doi: 10.1016/j.ymgme.2008.01.003. Epub 2008 Feb 13.

PMID:
18276179
50.

Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test.

Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, Vallance HD, Sirrs S.

Clin J Am Soc Nephrol. 2008 Jan;3(1):139-45. Epub 2007 Nov 14.

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