We need a “made in Canada” orphan drug framework

di McMillan, Hugh J., Campbell, Craig
Pubblicato in CMAJ (2017)

Commentary

di McMillan, Hugh J, Ventureyra, Enrique CG
Pubblicazione 2011

Autoimmune Neuromuscular Disorders in Childhood

di McMillan, Hugh J., Darras, Basil T., Kang, Peter B.
Pubblicazione 2011

Worster-Drought Syndrome Associated With LINS Mutations

di McMillan, Hugh J., Holahan, Anne-Lise, Richer, Julie
Pubblicato in Child Neurol Open (2018)

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy

di Carter, Melissa T., McMillan, Hugh J., Tomin, Andriy, Weiss, Norbert
Pubblicato in Channels (Austin) (2019)

Inhaled Solvent Abuse Mimicking Chronic Inflammatory Demyelinating Polyradiculoneuropathy

di Thulasirajah, Salini, Michaud, Jean, Doja, Asif, McMillan, Hugh J.
Pubblicato in Child Neurol Open (2020)

Medical students’ perception of lesbian, gay, bisexual, and transgender (LGBT) discrimination in their learning environment and their self-reported comfort level for caring for LGB...

di Nama, Nassr, MacPherson, Paul, Sampson, Margaret, McMillan, Hugh J.
Pubblicato in Med Educ Online (2017)

Costs of Illness of Spinal Muscular Atrophy: A Systematic Review

di Landfeldt, Erik, Pechmann, Astrid, McMillan, Hugh J., Lochmüller, Hanns, Sejersen, Thomas
Pubblicato in Appl Health Econ Health Policy (2021)

Bone Health and Osteoporosis Management of the Patient With Duchenne Muscular Dystrophy

di Ward, Leanne M., Hadjiyannakis, Stasia, McMillan, Hugh J., Noritz, Garey, Weber, David R.
Pubblicato in Pediatrics (2018)

Obesity and Endocrine Management of the Patient With Duchenne Muscular Dystrophy

di Weber, David R., Hadjiyannakis, Stasia, McMillan, Hugh J., Noritz, Garey, Ward, Leanne M.
Pubblicato in Pediatrics (2018)

Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis

di Landfeldt, Erik, Thompson, Rachel, Sejersen, Thomas, McMillan, Hugh J., Kirschner, Janbernd, Lochmüller, Hanns
Pubblicato in Eur J Epidemiol (2020)

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

di Elia, Nathaniel, Nault, Trystan, McMillan, Hugh J., Graham, Gail E., Huang, Lijia, Cannon, Stephen C.
Pubblicato in Front Neurol (2020)

Corrigendum: Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

di Elia, Nathaniel, Nault, Trystan, McMillan, Hugh J., Graham, Gail E., Huang, Lijia, Cannon, Stephen C.
Pubblicato in Front Neurol (2020)

Novel MPZ mutations and congenital hypomyelinating neuropathy

di McMillan, Hugh J., Santagata, Sandro, Shapiro, Frederic, Batish, Sat Dev, Couchon, Libby, Donnelly, Stephen, Kang, Peter B.
Pubblicazione 2010

A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome

di Hanes, Ilana, McMillan, Hugh J., Ito, Yoko, Kernohan, Kristin D., Lazier, Joanna, Lines, Matthew A., Dyment, David A.
Pubblicato in Neurol Genet (2020)

Lumbar puncture simulation in pediatric residency training: improving procedural competence and decreasing anxiety

di McMillan, Hugh J., Writer, Hilary, Moreau, Katherine A., Eady, Kaylee, Sell, Erick, Lobos, Anna-Theresa, Grabowski, Jenny, Doja, Asif
Pubblicato in BMC Med Educ (2016)

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset

di Gillespie, Meredith K., McMillan, Hugh J., Kernohan, Kristin D., Pena, Izabella A., Meyer-Schuman, Rebecca, Antonellis, Anthony, Boycott, Kym M.
Pubblicato in J Neuromuscul Dis (2019)

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

di McMillan, Hugh J, Schwartzentruber, Jeremy, Smith, Amanda, Lee, Suzie, Chakraborty, Pranesh, Bulman, Dennis E, Beaulieu, Chandree L, Majewski, Jacek, Boycott, Kym M, Geraghty, Michael T
Pubblicazione 2014

Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease)

di Zapata-Aldana, Eugenio, McMillan, Hugh J, Rupar, Tony, Brunel-Guitton, Catherine, Chakraborty, Pranesh, Mitchell, John J, Roth, Johannes, Tarnopolsky, Mark A, Turner, Lesley, Campbell, Craig
Pubblicato in Paediatr Child Health (2019)

Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion

di Antoun, Ghadi, McBride, Skye, Vanstone, Jason R., Naas, Turaya, Michaud, Jean, Redpath, Stephanie, McMillan, Hugh J., Brophy, Jason, Daoud, Hussein, Chakraborty, Pranesh, Dyment, David, Holcik, Martin, Harper, Mary-Ellen, Lines, Matthew A.
Pubblicato in JIMD Rep (2015)