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List of works by Hugh J. McMillan

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

scientific article published on 03 June 2020

Achalasia, chronic sensory neuropathy, and N-type calcium channel autoantibodies: beneficial response to IVIG

scientific article published on 24 February 2010

Acute asymmetrical spinal infarct secondary to fibrocartilaginous embolism

scientific article published on 08 October 2014

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

scientific article published on 15 November 2013

Association Between Chronic Aspiration and Chronic Airway Infection with Pseudomonas aeruginosa and Other Gram-Negative Bacteria in Children with Cerebral Palsy

scientific article published on 16 February 2016

Autoimmune neuromuscular disorders in childhood

scientific article published on December 2011

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

scientific article published on 5 August 2015

Brachial Plexopathy and Nonaccidental Injury: Role of the Neurologist

scientific article published on 01 May 2010

Brainstem compression: a predictor of postoperative cerebellar mutism.

scientific article published on 12 December 2008

Canadian Paediatric Neurology Workforce Survey and Consensus Statement

article

Case 2: Gross Motor Regression in an 18-month-old Girl

scientific article published on 01 February 2017

Chiari 1 malformation and holocord syringomyelia presenting as abrupt onset foot drop

scientific article published on 02 September 2010

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

scientific article

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

scientific article

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

scientific article published in September 2015

Congenital Trismus From Brainstem Dysgenesis: Case Report and Review of Literature.

scientific article published on 2 June 2016

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

scientific article published on 20 October 2014

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

article

Cranial nerve hypertrophy in pediatric chronic inflammatory demyelinating polyradiculoneuropathy

scientific article published on 13 October 2010

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing

scientific article published on 7 February 2017

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

scientific article

Diagnosis and outcome of childhood perineurioma.

scientific article

Disability, Quality of Life, and Pain Coping in Pediatric Migraine: An Observational Study

scientific article published on 09 April 2017

Divergent reproductive endocrinology of the estrous cycle and pregnancy in dwarf hamsters (Phodopus)

scientific article published on 01 September 1999

Drisapersen associated with elevated serum factor VIII levels in Duchenne muscular dystrophy

scientific article published on 19 February 2020

Electrophysiologic Evidence for Anterior Horn Cell Disease in Amyoplasia

article

Emergence of the primary pediatric stroke center: impact of the thrombolysis in pediatric stroke trial

scientific article published on 10 June 2014

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

scientific article published on 21 November 2013

Evolutionary Change in the Endocrinology of Behavioral Receptivity: Divergent Roles for Progesterone and Prolactin within the Genus Phodopus1

scientific article published on 01 July 1998

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

scientific article published on 30 June 2015

Histomorphometry and Bone Matrix Mineralization Before and After Bisphosphonate Treatment in Boys With Duchenne Muscular Dystrophy: A Paired Transiliac Biopsy Study

scientific article published on 28 November 2015

Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient

scientific article published in March 2009

Inhaled Solvent Abuse Mimicking Chronic Inflammatory Demyelinating Polyradiculoneuropathy

scientific article published on 01 January 2020

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

scientific article

Medical students' perception of lesbian, gay, bisexual, and transgender (LGBT) discrimination in their learning environment and their self-reported comfort level for caring for LGBT patients: a survey study.

scientific article published on January 2017

Mononeuritis multiplex associated with minocycline in an adolescent

scientific article published on 19 June 2017

Myostatin inhibitor ACE-031 treatment of ambulatory boys with Duchenne muscular dystrophy: Results of a randomized, placebo-controlled clinical trial

scientific article published on 27 July 2016

NTRK1-related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test

scientific article published on 21 June 2022

Newborn Screening for Spinal Muscular Atrophy: Ontario Testing & Follow-up Recommendations

scientific article published on 16 October 2020

Novel MPZ mutations and congenital hypomyelinating neuropathy

scientific article published on November 2010

Pediatric monomelic amyotrophy: evidence for poliomyelitis in vulnerable populations

scientific article published in November 2009

Pediatric sciatic neuropathy associated with neoplasms

scientific article published in February 2011

Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy

scientific article published on 13 December 2010

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

scientific article published on 22 November 2012

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

scientific article

The time to and determinants of first fractures in boys with Duchenne muscular dystrophy

scientific article published on 24 October 2016

WATERSHED INFARCTION DUE TO ACUTE HYPEREOSINOPHILIA

scientific article published on 01 January 2008

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