This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a University of Ottawa directory, so their courses and email address may be missing. Find their university profile.
Research
Latest papers
Strengthening clinical capacity in spinal muscular atrophy: Developing and implementing training on clinical outcome assessments.
Journal of neuromuscular diseases · 2026
Bis(monoacylglycero)phosphate (BMP) as a circulating biomarker of lysosomal dysfunction in GNE myopathy.
Clinica chimica acta; international journal of clinical chemistry · 2026
A toolkit for new facioscapulohumeral muscular dystrophy trial sites.
Journal of neuromuscular diseases · 2026
Latest funding
- $140,000
Using iPSC-derived neurons to identify novel biomarkers and drug candidates for myotonic dystrophy type 1
CIHR · 2025 · Supervisor
- $1,067,175
Redox signaling via protein S-glutathionylation in muscle stem cell function and muscle repair
CIHR · 2025 · Co-investigator
- $120,000
Investigating the genetic causes of unsolved neuromuscular disorders
CIHR · 2025 · Supervisor
29 publications.
Strengthening clinical capacity in spinal muscular atrophy: Developing and implementing training on clinical outcome assessments.
Osman H, Masnata M, Adamji Z, Rodrigue X, Nguyen CÉ, Slayter J, Beattie E, Lintern S, Lochmuller H, O'Connell C, Gagnon C, Warman-Chardon J
Bis(monoacylglycero)phosphate (BMP) as a circulating biomarker of lysosomal dysfunction in GNE myopathy.
Manis C, Pertusati F, Morewood J, Roos A, Kleefeld F, Onali M, Pogoryelova O, Derksen A, Spendiff S, Lochmuller H, Videira P, Atzori L, Caboni P
A toolkit for new facioscapulohumeral muscular dystrophy trial sites.
Kools J, Korngut L, Petrillo Ballantyne J, Roozen I, de Haas R, Hill A, Evangelista T, Sansone VA, Roxburgh R, Lochmuller H, Statland J, Johnson NE, Voermans N
Implementation of a neuromuscular clinical trial network: a rare disease model for enhancing clinical trial readiness, capacity, and access in Canada.
Schellenberg KL, Osman H, Masnata M, Hicks R, Kagan C, Stosic A, Lintern S, Beattie E, Lochmuller H, Campbell C, Mah JK
Novel muscle MRI features in Desmin related myasthenic myopathy.
Baskar D, Tumulu SK, Polavarapu K, Huddar A, Unnikrishnan G, Vengalil S, Nashi S, Nittur V, Arunachal G, Saini J, Lochmuller H, Nalini A
Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives.
Osman H, Adamji Z, Lintern S, Smith IC, Grant A, Lessard LER, Lochmuller H, McMillan H, Selby K, Pfeffer G, Korngut L, Gagnon C, Thavorn K, Warman-Chardon J
Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders: The BIND Study.
Grant A, Smith IC, Lessard LER, Osman H, Lochmuller H, McMillan HJ, Pfeffer G, Korngut L, Gagnon C, Lintern S, Selby KA, Thavorn K, Warman-Chardon J
Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol.
Smith IC, Abusetah Y, Osman H, Garg A, Grant A, Lochmuller H, McMillan H, Pfeffer G, Korngut L, Gagnon C, Lintern S, Wojtal D, Selby K, Thavorn K, Warman-Chardon J
Pontocerebellar Hypoplasia and Periventricular Leukomalacia Associated With p.Phe262Val Homozygous Variant in TTC1 Gene: A Report of 4 Cases.
Sarıkaya Uzan G, Yaramış AH, Sönmezler E, Hız Kurul S, Yaramış A, Yiş U, Günay Ç, Lochmuller H, Horvath R, Oktay Y, Yaramış A
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy.
Smith IC, Sampaio ML, Melkus G, Meier-Ross K, Chakraborty S, Stotts C, Bourque PR, Lochmuller H, Brais B, Ayoub O, Perkins TJ, Khacho M, Warman-Chardon J
Using iPSC-derived neurons to identify novel biomarkers and drug candidates for myotonic dystrophy type 1
Principal investigators: Geertsma, Haley
Keywords: Alternative Splicing; Myotonic Dystrophy; Neurons; Proteomics; Stem Cells; Transcriptomics
Redox signaling via protein S-glutathionylation in muscle stem cell function and muscle repair
Principal investigators: Khacho, Mireille
Keywords: Glutathione; Mitochondrial Communication; Mitochondrial Function And Metabolism; Muscle Degenerative Diseases; Muscle Function; Muscle Regeneration; Muscle Stem Cells; Muscular Dystrophy; Reactive Oxygen Species
Investigating the genetic causes of unsolved neuromuscular disorders
Principal investigators: Aksel Kilicarslan, Ozge
Keywords: Bioinformatics; Genetics; Multi-Omics; Neuromuscular Disease; Next-Generation Sequencing
Canada Research Chair - Tier 1
Principal investigators: Lochmüller, Hanns
Keywords: Crc
NMD4C: the neuromuscular network for Canada
Principal investigators: Lochmüller, Hanns; Osman, Homira; Brais, Bernard; Campbell, Craig Gordon N; Chang, Natasha C; Dowling, James; Gagnon, Cynthia; Gonorazky, Hernan D; Hodgkinson, Victoria; Karamchandani, Jason; Korngut, Lawrence W; Kothary, Rashmi K; Mah, Jean K; O'Connell, Colleen; Patten, Kessen; Rossi, Fabio M; Schellenberg, Kerri; Selby, Kathryn A; Warman Chardon, Jodi
Keywords: Clinical Trial Networks; Networks; Neuromuscular Disease; Open Science; Patient Partnerships; Preclinical Research Resources; Training And Education; Translational Research
Analysis of non-coding regions and novel gene discovery: Exploring the unknown in inherited neuromuscular disorders.
Principal investigators: Polavarapu, Kiran
Keywords: Diagnostics; Gene Discovery; Genetics; Neuromuscular Disease; Non-Coding Regions
GNE Myopathy - Determination of disease prevalence and investigations into the importance of sialic acid in muscle differentiation
Principal investigators: Derksen, Alexa R
Keywords: Gne Myopathy; Neuromuscular Disease; Polysialylation; Prevalence; Sialic Acid
Accelerating drug repurposing for rare neurological, neurometabolic and neuromuscular diseases by exploiting SIMilarities in clinical and molecular PATHology (SIMPATHIC)
Principal investigators: Lochmüller, Hanns
Keywords: Neuromuscular Diseases; Drug Repurposing; Clinical Trials; Rare Disease; IPSc; Cellular Models; Drug Screens; Basket Trials
BIND Study: Assessing the Indirect Socio-Economic Burden of Inherited Neuromuscular Diseases
Principal investigators: Warman Chardon, Jodi; Korngut, Lawrence W; Lochmüller, Hanns; Thavorn, Kednapa
Keywords: Indirect Costs
Novel therapeutic approaches to target GNE Myopathy
Principal investigators: Lochmüller, Hanns
Keywords: Biomarkers; Glycobiology; Gne Myopathy; Innovative Therapeutic Strategies; Multi-Omic; Prodrug; Sialic Acid Pathway
From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.
Frequent collaborators
- Clinical Neurosciences
- Department of Medicine
- Ecole de réadaptation
- School of Epidemiology and Public Health
- Neurology and Neurosurgery
- Department of Epidemiology and Biostatistics
- Surgery
- Other
Co-authors at University of Ottawa, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
Jodi Warman Chardon
Department of Medicine
6 shared papers, latest 2026
Homira Osman
Faculty
5 shared papers, latest 2026
Kednapa Thavorn
Faculty
4 shared papers, latest 2025
Lawrence Korngut
Clinical Neurosciences
4 shared papers, latest 2026
Kednapa Thavorn
School of Epidemiology and Public Health
4 shared papers, latest 2025
Cynthia Gagnon
Ecole de réadaptation
4 shared papers, latest 2026
Gerald Pfeffer
Clinical Neurosciences
3 shared papers, latest 2025
Gilles Gouspillou
Medicine
1 shared papers, latest 2023
Nancy Maltez
Faculty
1 shared papers, latest 2024
Gerd Melkus
Surgery
1 shared papers, latest 2025
Craig Campbell
Department of Epidemiology and Biostatistics
1 shared papers, latest 2026
Cynthia Gagnon
Faculty
1 shared papers, latest 2026
Homira Osman
Faculty
1 shared papers, latest 2026
Craig Campbell
Faculty
1 shared papers, latest 2026
Bernard Brais
Neurology and Neurosurgery
1 shared papers, latest 2025
Mireille Khacho
Biochemistry, Microbiology and Immunology
1 shared papers, latest 2025
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