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1

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

Bourque, Pierre R., Chardon, Jodi Warman, Bryanton, Mark, Toupin, Melissa, Burns, Bruce F., Torres, Carlos

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2018

File:

PDF, 2.05 MB

2018

2

Very late-onset Sandhoff disease presenting as Kennedy Disease

Chardon, Jodi Warman, Bourque, Pierre R., Geraghty, Michael T., Boycott, Kym M.

Journal:

Year:

2015

Language:

english

File:

PDF, 54 KB

english, 2015

3

Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development

Thompson, Rachel, Spendiff, Sally, Roos, Andreas, Bourque, Pierre R, Warman Chardon, Jodi, Kirschner, Janbernd, Horvath, Rita, LochmÃ¼ller, Hanns

Journal:

The Lancet Neurology

Year:

2020

File:

PDF, 1.01 MB

2020

4

MYO-MRI Diagnostic Protocols in Genetic Myopathies

Chardon, Jodi Warman, Díaz-Manera, Jordi, Tasca, Giorgio, Bönnemann, Carsten G., Gómez-Andrés, David, Heerschap, Arend, Mercuri, Eugenio, Muntoni, Francesco, Pichiecchio, Anna, Ricci, Enzo, Walter, Ma

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 1.28 MB

english, 2019

5

Neurolymphomatosis of the lumbosacral plexus and its branches: case series and literature review

Bourque, Pierre R., Sampaio, Marcos Loreto, Warman-Chardon, Jodi, Samaan, Sam, Torres, Carlos

Journal:

Year:

2019

File:

PDF, 3.52 MB

2019

6

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

Bourque, Pierre R., McCudden, Christopher R., Warman-Chardon, Jodi, Brooks, John, Hegen, Harald, Deisenhammer, Florian, Breiner, Ari

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2019

File:

PDF, 173 KB

2019

7

Missense mutations inITPR1cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Lijia Huang, Jodi Warman Chardon, Melissa T Carter, Kathie L Friend, Tracy E Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W Schofield, Stuart Douglas, Dennis E Bulman, Kym M Boycott

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 391 KB

english, 2012

8

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

Hartley, Taila, Wagner, Justin D., Warman-Chardon, Jodi, Tétreault, Martine, Brady, Lauren, Baker, Steven, Tarnopolsky, Mark, Bourque, Pierre R., Parboosingh, Jillian S., Smith, Christopher, McInnes,

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

9

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events

Armour, Christine M., Smith, Amanda, Hartley, Taila, Chardon, Jodi Warman, Sawyer, Sarah, Schwartzentruber, Jeremy, Hennekam, Raoul, Majewski, Jacek, Bulman, Dennis E., Suri, Mohnish, Boycott, Kym M.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 242 KB

english, 2016

10

Clinical and genetic study of hereditary spastic paraplegia in Canada

Chrestian, Nicolas, Dupré, Nicolas, Gan-Or, Ziv, Szuto, Anna, Chen, Shiyi, Venkitachalam, Anil, Brisson, Jean-Denis, Warman-Chardon, Jodi, Ahmed, Sohnee, Ashtiani, Setareh, MacDonald, Heather, Mohsin,

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 538 KB

english, 2017

11

PDXK mutations cause polyneuropathy responsive to PLP supplementation

Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zanetti, M. Natalia, Zamba-Papanicolaou, Eleni, Efthymiou, Stephanie, Pope, Simon, Conte, Maria R, Abis, Giancarlo, Liu,

Journal:

Annals of Neurology

Year:

2019

Language:

english

File:

PDF, 2.77 MB

english, 2019

12

Systematic prospective electrophysiological studies of the median nerve after simple distal radius fracture

Bourque, Pierre R., Brooks, John, Mobach, Theo, Gammon, Brendan, Papp, Steven, Warman-Chardon, Jodi, Allen, Matti Douglas

Journal:

Year:

2020

File:

PDF, 300 KB

2020

13

Deletion of filamin A in two female patients with periventricular nodular heterotopia

Jodi Warman Chardon, Cyril Mignot, Swaroop Aradhya, Boris Keren, Alexandra Afenjar, Anna Kaminska, Cherif Beldjord, Delphine Héron, Kym M. Boycott

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 259 KB

english, 2012

14

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

Nash, Leslie A., McFall, Emily R., Perozzo, Amanda M., Turner, Maddison, Poulin, Kathy L., De Repentigny, Yves, Burns, Joseph K., McMillan, Hugh J., Warman Chardon, Jodi, Burger, Dylan, Kothary, Rashm

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 2.09 MB

english, 2017

15

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

Bourque, Pierre R., Warman-Chardon, Jodi, Lelli, Daniel A., LaBerge, Lauren, Kirshen, Carly, Bradshaw, Scott H., Hartley, Taila, Boycott, Kym M.

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 202 KB

english, 2018

16

Teaching Video NeuroImages: Rippling muscle disease with caveolin myopathy

Bourque, Pierre R., Breiner, Ari, Brooks, John, Warman Chardon, Jodi

Journal:

Year:

2018

Language:

english

File:

PDF, 274 KB

english, 2018

17

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type

Zima, Judith, Eaton, Alison, Pál, Endre, Till, Ágnes, Ito, Yoko A., Warman-Chardon, Jodi, Hartley, Taila, Cagnone, Gael, Melegh, Bela I., Boycott, Kym M., Melegh, Béla, Hadzsiev, Kinga

Journal:

European Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 2.17 MB

english, 2019

18

Myofibrillar Myopathy Mimicking Polyneuropathy

Bourque, PierreÂ R., Breiner, Ari, Warman-Chardon, Jodi

Journal:

Case Reports in Neurology

Year:

2020

File:

PDF, 376 KB

2020

19

P.068 Abnormal fatty acid metabolism is a feature of spinal muscular atrophy

Deguise, M, Beauvais, A, Baranello, G, Pileggi, C, Mastella, C, Tierney, A, Chehade, L, Leone, A, De Amicis, R, Battezzati, A, De Repentigny, Y, Warman Chardon, J, McMillan, HJ, Llavero-Hurtado, M, Hu

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2019

File:

PDF, 2.05 MB

2019

20

Autoimmune peripheral neuropathies

Bourque, Pierre R., Chardon, Jodi Warman, Massie, Rami

Journal:

Clinica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 981 KB

english, 2015

21

REGISTRIES, CARE, QUALITY OF LIFE, MANAGEMENT OF NMD

Amburgey, K., Dowling, J., Chardon, J. Warman, Kothary, R., Stead-Coyle, B., Brais, B., Campbell, C., Gagnon, C., McMillan, H., Selby, K., Korngut, L., Oskoui, M., Amin, R., Esler, P., Worsfold, N., B

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 63 KB

2020

22

Identification of a methylation profile forDNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Kernohan, Kristin D., Cigana Schenkel, Laila, Huang, Lijia, Smith, Amanda, Pare, Guillaume, Ainsworth, Peter, Boycott, Kym M., Warman-Chardon, Jodi, Sadikovic, Bekim

Journal:

Clinical Epigenetics

Year:

2016

Language:

english

File:

PDF, 2.13 MB

english, 2016

23

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

Bourque, Pierre R., Chardon, Jodi Warman

Journal:

Journal of Thoracic Disease

Year:

2016

Language:

english

File:

PDF, 132 KB

english, 2016

24

Teaching Video Neuro Images : Trapezius muscle hypertrophy in multifocal motor neuropathy

Bourque, Pierre R., Al-Hajji, Mahmoud, Zwicker, Jocelyn, Warman Chardon, Jodi

Journal:

Year:

2017

Language:

english

File:

PDF, 272 KB

english, 2017

25

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

Bourque, Pierre R., Boyd, Kirsty U., Jansen, Gerard H., Warman-Chardon, Jodi, Zwicker, Jocelyn, Pringle, Elizabeth B., Rakhra, Kawan, Breiner, Ari

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2018

Language:

english

File:

PDF, 454 KB

english, 2018

26

Report on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy – September 24–26, 2015, Ottawa, Canada

Chardon, Jodi Warman, Jasmin, Bernard J., Kothary, Rashmi, Parks, Robin J.

Journal:

Journal of Neuromuscular Diseases

Year:

2016

Language:

english

File:

PDF, 98 KB

english, 2016

27

P.028 A milder congenital myopathy in the french canadians caused by a novel TNNT1 homozygous missense mutation

Pellerin, D, Aykanat, A, Ellezam, B, Karamchandani, J, Mathieu, J, Chardon, J Warman, Konersman, CG, Beggs, AH, Brais, B, Chrestian, N

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2019

File:

PDF, 2.04 MB

2019

28

Cardiac Amyloidosis Phenotype Associated With a Glu89Lys Transthyretin Mutation

Bourque, Pierre R., McCurdy, Arleigh R., Mielniczuk, Lisa M., Dennie, Carole, Veinot, John P., Warman Chardon, Jodi

Journal:

Canadian Journal of Cardiology

Year:

2017

Language:

english

File:

PDF, 1.44 MB

english, 2017

29

Marked clinical variability with FIG4 mutations presenting as acquired neuropathies

Warman Chardon, J., Bourque, P., Massie, R., Rakhra, K., Sampaio, M., McMillan, H., Boycott, K., Dyment, D.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 206 KB

english, 2016

30

Amyloid Neuropathy Following Domino Liver Transplantation

Bourque, Pierre R., Shafi, Sharmi, Jansen, Gerard H., McCurdy, Arleigh, Chardon, Jodi Warman

Journal:

Year:

2016

Language:

english

File:

PDF, 158 KB

english, 2016

31

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

Bourque, Pierre R., Bourque, Gabrielle, Miller, William, Woulfe, John, Warman Chardon, Jodi

Journal:

Journal of Clinical Neuroscience

Year:

2016

Language:

english

File:

PDF, 3.04 MB

english, 2016

32

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

Sawyer, Sarah L., Schwartzentruber, Jeremy, Beaulieu, Chandree L., Dyment, David, Smith, Amanda, Chardon, Jodi Warman, Yoon, Grace, Rouleau, Guy A., Suchowersky, Oksana, Siu, Victoria, Murphy, Lisa, H

Journal:

Year:

2014

Language:

english

File:

PDF, 143 KB

english, 2014

33

Diffuse leukoencephalopathy with spheroids presenting as primary progressive aphasia

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

Journal:

Year:

2016

Language:

english

File:

PDF, 202 KB

english, 2016

34

Age matters

Bourque, Pierre R., Brooks, John, McCudden, Christopher R., Warman-Chardon, Jodi, Breiner, Ari

Journal:

Neurology: Neuroimmunology & Neuroinflammation

Year:

2019

Language:

english

File:

PDF, 258 KB

english, 2019

35

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

McDonell, Laura M, Warman Chardon, Jodi, Schwartzentruber, Jeremy, Foster, Denise, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, Boycott, Kym M

Journal:

Year:

2014

Language:

english

File:

PDF, 344 KB

english, 2014

36

Systematic analysis of clinical deficits in unilateral hypoglossal nerve palsy

Yu, Yeyao Joe, Chardon, Jodi Warman, Bourque, Pierre R.

Journal:

Year:

2016

Language:

english

File:

PDF, 698 KB

english, 2016

37

247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019

Warman-Chardon, Jodi, Diaz-Manera, Jordi, Tasca, Giorgio, Straub, Volker

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 551 KB

2020

38

LDB3/ZASP-related myofibrillar myopathy associated with marked phenotypic variability

Laneuville, M., Woulfe, J., Bourque, P., McMillan, H., Dyment, D., Warman Chardon, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

39

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

Warman Chardon, Jodi, Straub, Volker

Journal:

Neuropediatrics

Year:

2017

Language:

english

File:

PDF, 216 KB

english, 2017

40

Marked enlargement of neck circumference from nerve hypertrophy in CIDP

Bourque, Pierre R., Nguyen, Thanh B., Zwicker, Jocelyn, Warman Chardon, Jodi

Journal:

Year:

2016

Language:

english

File:

PDF, 186 KB

english, 2016

41

Spinal Muscular Atrophy: More than a Disease of Motor Neurons?

A. Nash, L., K. Burns, J., Warman Chardon, J., Kothary, R., J. Parks, R.

Journal:

Current Molecular Medicine

Year:

2016

Language:

english

File:

PDF, 1.87 MB

english, 2016

42

Impact of disuse muscular atrophy on the compound muscle action potential

Mobach, Theo, Brooks, John, Breiner, Ari, Warman‐Chardon, Jodi, Papp, Steven, Gammon, Braden, Nandedkar, Sanjeev D., Bourque, Pierre R.

Journal:

Year:

2019

Language:

english

File:

PDF, 646 KB

english, 2019

43

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

Warman Chardon, Jodi, Beaulieu, Chandree, Hartley, Taila, Boycott, Kym M., Dyment, David A.

Journal:

Current Neurology and Neuroscience Reports

Year:

2015

Language:

english

File:

PDF, 304 KB

english, 2015

44

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

Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 238 KB

english, 2015

45

P.028 A milder congenital myopathy in the french canadians caused by a novel TNNT1 homozygous missense mutation

Pellerin, D, Aykanat, A, Ellezam, B, Karamchandani, J, Mathieu, J, Chardon, J Warman, Konersman, CG, Beggs, AH, Brais, B, Chrestian, N

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2019

Language:

english

File:

PDF, 2.04 MB

english, 2019

46

Report on the 4th Ottawa International Conference on Neuromuscular Disease and Biology – September 5–7, 2017, Ottawa, Canada

Chardon, Jodi Warman, Jasmin, Bernard J., Kothary, Rashmi, Parks, Robin J.

Journal:

Journal of Neuromuscular Diseases

Year:

2018

Language:

english

File:

PDF, 106 KB

english, 2018

47

MYO-MRI Diagnostic Protocols in Genetic Myopathies

Chardon, Jodi Warman, Díaz-Manera, Jordi, Tasca, Giorgio, Bönnemann, Carsten G., Gómez-Andrés, David, Heerschap, Arend, Mercuri, Eugenio, Muntoni, Francesco, Pichiecchio, Anna, Ricci, Enzo, Walter, Ma

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 1.28 MB

2019

48

Reliability and the validity of the physiotherapy functional mobility profile questionnaire

Laferrière, Lucie, Brosseau, Lucie, Narezny, Marlene, Ryan, Mélanie, Tibi, Geneviéve, Chardon, Jodi Warman

Journal:

Physiotherapy Theory and Practice

Year:

2001

Language:

english

File:

PDF, 239 KB

english, 2001

49

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

Myers, Kenneth A., Warman Chardon, Jodi, Huang, Lijia, Boycott, Kym M.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 215 KB

english, 2014

50

Dataset for worldwide survey of cerebrospinal total protein upper reference values

Bourque, Pierre R., Brooks, John, Warman-Chardon, Jodi, Hegen, Harald, Deisenhammer, Florian, McCudden, Chris R., Breiner, Ari

Journal:

Year:

2019

Language:

english

File:

PDF, 1.30 MB

english, 2019

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