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Items: 29

1.

Dataset for worldwide survey of cerebrospinal total protein upper reference values.

Bourque PR, Brooks J, Warman-Chardon J, Hegen H, Deisenhammer F, McCudden CR, Breiner A.

Data Brief. 2019 Mar 7;23:103760. doi: 10.1016/j.dib.2019.103760. eCollection 2019 Apr.

2.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group.

Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1.

PMID:
31187503
3.

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.

Zima J, Eaton A, Pál E, Till Á, Ito YA, Warman-Chardon J, Hartley T, Cagnone G, Melegh BI; Care4Rare Canada, Boycott KM, Melegh B, Hadzsiev K.

Eur J Med Genet. 2019 Apr 27. pii: S1769-7212(18)30739-0. doi: 10.1016/j.ejmg.2019.04.012. [Epub ahead of print]

PMID:
31034989
4.

A Survey of Cerebrospinal Fluid Total Protein Upper Limits in Canada: Time for an Update?

Bourque PR, McCudden CR, Warman-Chardon J, Brooks J, Hegen H, Deisenhammer F, Breiner A.

Can J Neurol Sci. 2019 May;46(3):283-286. doi: 10.1017/cjn.2019.12. Epub 2019 Mar 27.

PMID:
30915935
5.

Teaching Video NeuroImages: Rippling muscle disease with caveolin myopathy.

Bourque PR, Breiner A, Brooks J, Warman Chardon J.

Neurology. 2018 Oct 30;91(18):e1726-e1727. doi: 10.1212/WNL.0000000000006427. No abstract available.

PMID:
30373930
6.

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34).

Bourque PR, Warman-Chardon J, Lelli DA, LaBerge L, Kirshen C, Bradshaw SH, Hartley T, Boycott KM.

Neurol Genet. 2018 Jul 26;4(4):e263. doi: 10.1212/NXG.0000000000000263. eCollection 2018 Aug. No abstract available.

7.

Intraneural Ganglion Cysts of the Fibular Nerve: A Cause of Fluctuating Painful Foot Drop.

Bourque PR, Boyd KU, Jansen GH, Warman-Chardon J, Zwicker J, Pringle EB, Rakhra K, Breiner A.

Can J Neurol Sci. 2018 Sep;45(5):601-603. doi: 10.1017/cjn.2018.66. Epub 2018 Jul 25. No abstract available.

PMID:
30041709
8.

Neurolymphomatosis of the Brachial Plexus and its Branches: Case Series and Literature Review.

Bourque PR, Warman Chardon J, Bryanton M, Toupin M, Burns BF, Torres C.

Can J Neurol Sci. 2018 Mar;45(2):137-143. doi: 10.1017/cjn.2017.282. Epub 2018 Jan 8. Review.

PMID:
29307326
9.

Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy.

Nash LA, McFall ER, Perozzo AM, Turner M, Poulin KL, De Repentigny Y, Burns JK, McMillan HJ, Warman Chardon J, Burger D, Kothary R, Parks RJ.

Sci Rep. 2017 Oct 24;7(1):13859. doi: 10.1038/s41598-017-14313-z.

10.

Teaching Video NeuroImages: Trapezius muscle hypertrophy in multifocal motor neuropathy.

Bourque PR, Al-Hajji M, Zwicker J, Warman Chardon J.

Neurology. 2017 Aug 15;89(7):e81-e82. doi: 10.1212/WNL.0000000000004233. No abstract available.

PMID:
28808176
11.

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Hartley T, Wagner JD, Warman-Chardon J, Tétreault M, Brady L, Baker S, Tarnopolsky M, Bourque PR, Parboosingh JS, Smith C, McInnes B, Innes AM, Bernier F, Curry CJ, Yoon G, Horvath GA, Bareke E, Gillespie M; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Bulman DE, Dyment DA, Boycott KM.

Clin Genet. 2018 Feb;93(2):301-309. doi: 10.1111/cge.13101. Epub 2017 Dec 12.

PMID:
28708278
12.

The Role of Muscle Imaging in the Diagnosis and Assessment of Children with Genetic Muscle Disease.

Warman Chardon J, Straub V.

Neuropediatrics. 2017 Aug;48(4):233-241. doi: 10.1055/s-0037-1604111. Epub 2017 Jul 2. Review. No abstract available.

PMID:
28669132
13.

Cardiac Amyloidosis Phenotype Associated With a Glu89Lys Transthyretin Mutation.

Bourque PR, McCurdy AR, Mielniczuk LM, Dennie C, Veinot JP, Warman Chardon J.

Can J Cardiol. 2017 Jun;33(6):830.e5-830.e7. doi: 10.1016/j.cjca.2017.01.023. Epub 2017 Feb 3.

PMID:
28395866
14.

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

Kernohan KD, Frésard L, Zappala Z, Hartley T, Smith KS, Wagner J, Xu H, McBride A, Bourque PR, Consortium CRC, Bennett SAL, Dyment DA, Boycott KM, Montgomery SB, Warman Chardon J.

Hum Mutat. 2017 Jun;38(6):611-614. doi: 10.1002/humu.23211. Epub 2017 Mar 28.

15.

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Chrestian N, Dupré N, Gan-Or Z, Szuto A, Chen S, Venkitachalam A, Brisson JD, Warman-Chardon J, Ahmed S, Ashtiani S, MacDonald H, Mohsin N, Mourabit-Amari K, Provencher P, Boycott KM, Stavropoulos DJ, Dion PA, Ray PN, Suchowersky O, Rouleau GA, Yoon G.

Neurol Genet. 2016 Dec 5;3(1):e122. eCollection 2017 Feb.

16.

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration.

Walker LA, Bourque P, Smith AM, Warman Chardon J.

Neuropsychology. 2017 Mar;31(3):292-303. doi: 10.1037/neu0000322. Epub 2016 Nov 21.

PMID:
27869457
17.

A crucial first randomized controlled trial of thymectomy in non-thymomatous myasthenia gravis.

Bourque PR, Warman Chardon J.

J Thorac Dis. 2016 Oct;8(10):E1375-E1378. No abstract available.

18.

Combined isolated trigeminal and facial neuropathies from perineural invasion by squamous cell carcinoma: A case series and review of the literature.

Bourque PR, Bourque G, Miller W, Woulfe J, Warman Chardon J.

J Clin Neurosci. 2017 Jan;35:5-12. doi: 10.1016/j.jocn.2016.09.022. Epub 2016 Oct 11. Review.

PMID:
27742375
19.

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.

Kernohan KD, Cigana Schenkel L, Huang L, Smith A, Pare G, Ainsworth P; Care4Rare Canada Consortium, Boycott KM, Warman-Chardon J, Sadikovic B.

Clin Epigenetics. 2016 Sep 5;8:91. doi: 10.1186/s13148-016-0254-x. eCollection 2016.

20.

Marked enlargement of neck circumference from nerve hypertrophy in CIDP.

Bourque PR, Nguyen TB, Zwicker J, Warman Chardon J.

Neurology. 2016 Jul 26;87(4):442. doi: 10.1212/WNL.0000000000002901. No abstract available.

PMID:
27462037
21.

Systematic analysis of clinical deficits in unilateral hypoglossal nerve palsy.

Yu YJ, Warman Chardon J, Bourque PR.

Muscle Nerve. 2016 Dec;54(6):1055-1058. doi: 10.1002/mus.25258. Epub 2016 Sep 9.

PMID:
27429166
22.

Supramaximal Stimulus Intensity as a Diagnostic Tool in Chronic Demyelinating Neuropathy.

Parker V, Warman Chardon J, Mills J, Goldsmith C, Bourque PR.

Neurosci J. 2016;2016:6796270. doi: 10.1155/2016/6796270. Epub 2016 Jun 16.

23.

Diffuse leukoencephalopathy with spheroids presenting as primary progressive aphasia.

Lapalme-Remis S, Warman Chardon J, Bourque PR, Oboudiyat C.

Neurology. 2016 Apr 12;86(15):1464-1465. doi: 10.1212/01.wnl.0000482697.58240.eb. No abstract available.

PMID:
27163664
24.

Amyloid Neuropathy Following Domino Liver Transplantation: Response to Diflunisal.

Bourque PR, Shafi S, Jansen GH, McCurdy A, Warman Chardon J.

JAMA Neurol. 2016 Apr;73(4):477-8. doi: 10.1001/jamaneurol.2015.4715. No abstract available.

PMID:
26831189
25.

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.

Warman Chardon J, Beaulieu C, Hartley T, Boycott KM, Dyment DA.

Curr Neurol Neurosci Rep. 2015 Sep;15(9):64. doi: 10.1007/s11910-015-0584-7. Review.

PMID:
26289954
26.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM.

Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Review.

27.

Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies.

Myers KA, Warman Chardon J, Huang L, Boycott KM.

Am J Med Genet A. 2014 Dec;164A(12):3209-12. doi: 10.1002/ajmg.a.36771. Epub 2014 Sep 23. No abstract available.

PMID:
25251419
28.

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.

McDonell LM, Warman Chardon J, Schwartzentruber J, Foster D, Beaulieu CL; FORGE Canada Consortium, Majewski J, Bulman DE, Boycott KM.

BMC Neurol. 2014 Jan 31;14:22. doi: 10.1186/1471-2377-14-22.

29.

Exome sequencing as a diagnostic tool for pediatric-onset ataxia.

Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR; FORGE Canada Consortium, Bulman DE, Majewski J, Tarnopolsky M, Boycott KM.

Hum Mutat. 2014 Jan;35(1):45-9.

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