Hugh McMillan - Dissemin

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Papers authored by Hugh McMillan

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2015 Justin D. Wagner, Lijia Huang, Martine Tetreault, Jacek Majewski, Kym M. Boycott, Dennis E. Bulman, David A. Dyment, Hugh J. McMillan

ORCID

, Care4Rare Canada Consortium

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2

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Jonathan Ennis, David A. Dyment, Jean Michaud, Hugh J. McMillan

ORCID

Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle

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Asif Doja, Serena L. Orr, Hugh J. McMillan

ORCID

, Adam Kirton, Paula Brna, Michael Esser, Richard Tang-Wai, Philippe Major, Major P., Chantal Poulin, Narayan Prasad, Kathryn Selby, Shelly K. Weiss, E. Ann Yeh, E. Ann Yeh and 1 other authors

Canadian Paediatric Neurology Workforce survey and consensus statement

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Carlotta Spagnoli, Nicolas Chrestian, Alessandro Iodice, Grazia Gabriella Salerno, Hugh McMillan

ORCID

, Chantal Poulin, Craig Campbell, Daniele Frattini, Gianna Bertani, Jiri Vajsar, Carlo Fusco

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update

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H. J. Mcmillan

ORCID

Congenital muscular dystrophies: New evidence-based guidelines for the diagnosis and management of this evolving group of muscle disorders

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Hugh J. McMillan

ORCID

, Monique M. Ryan

Overview of Pediatric Peripheral Neuropathies

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2014 Dyment Da, D. A. Dyment, M. R. Vanstone, A. C. Smith, E. Sell, Vanstone Mr, Smith Ac, D. Garandeau, V. Garcia, S. Carpentier, E. Le Trionnaire, F. Sabourdy, Beaulieu Cl, C. L. Beaulieu, Schwartzentruber Ja and 10 other authors

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

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McMillan Hj, H. J. McMillan

ORCID

, P. Humphreys, A. Smith, J. Schwartzentruber

ORCID

, P. Chakraborty, Bulman De, D. E. Bulman, Beaulieu Cl, C. L. Beaulieu, Canada Consortium Forge, J. Majewski, K. M. Boycott, Boycott Km, M. T. Geraghty and 1 other authors

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

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Balaji Rengarajan, Sunita Venkateswaran, Hugh J. McMillan

ORCID

Acute asymmetrical spinal infarct secondary to fibrocartilaginous embolism

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Dianna Wang, Hugh McMillan

ORCID

, Erika Bariciak

Subdural haemorrhage and severe coagulopathy resulting in transtentorial uncal herniation in a neonate undergoing therapeutic hypothermia

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M. J. Purser, D. L. Johnston, H. J. McMillan

ORCID

Chemotherapy-induced Peripheral Neuropathy Among Paediatric Oncology Patients

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Hugh J. McMillan

ORCID

, Jeremy Schwartzentruber

ORCID

, Amanda Smith, Suzie Lee, Pranesh Chakraborty, Dennis E. Bulman, Chandree L. Beaulieu, Jacek Majewski, Kym M. Boycott, Michael T. Geraghty

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

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2013 Sunita Venkateswaran, Hugh J. McMillan

ORCID

, Asif Doja, Peter Humphreys

Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation

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H. J. McMillan

ORCID

, J. Michaud

Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I

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Lawrence Korngut, Craig Campbell, Megan Johnston, Timothy Benstead, Angela Genge, Alex Mackenzie, Anna McCormick, Douglas Biggar, Pierre Bourque, Hannah Briemberg, Colleen O'Connell, Suzan Dojeiji, Joseph Dooley, Ian Grant, Gillian Hogan and 13 other authors

The CNDR: Collaborating to Translate New Therapies for Canadians

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Hugh J. McMillan

ORCID

, Peter B. Kang, H. Royden Jones, Basil T. Darras

Childhood chronic inflammatory demyelinating polyradiculoneuropathy: Combined analysis of a large cohort and eleven published series

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2012 McMillan Hj, Hugh J. McMillan

ORCID

, Thea Worthylake, Jeremy Schwartzentruber

ORCID

, Gottlieb Cc, Chloe C. Gottlieb, Sarah E. Lawrence, Lawrence Se, Alex MacKenzie, Beaulieu Cl, Chandree L. Beaulieu, Mooyer Pa, Petra A. W. Mooyer, Forge Canada Consortium, Canada Consortium Forge and 10 other authors

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

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A. M. Sbrocchi, F. Rauch, P. Jacob, A. McCormick, H. J. McMillan

ORCID

, Matzinger Ma, M. A. Matzinger, L. M. Ward

The use of intravenous bisphosphonate therapy to treat vertebral fractures due to osteoporosis among boys with Duchenne muscular dystrophy

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2011 Hugh J. McMillan

ORCID

, Basil T. Darras, Peter B. Kang

Autoimmune Neuromuscular Disorders in Childhood

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Srinivas Bulusu, Hugh J. McMillan

ORCID

A Report of Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) Presenting with Brachial Plexopathy: The Value of Complete Electrodiagnostic Testing

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