Lista de obras - Hugh J. McMillan - Dominio Público Uruguay

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Autoimmune neuromuscular disorders in childhood

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2008

Canadian Paediatric Neurology Workforce Survey and Consensus Statement

article

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

artículo científico publicado en 2017

Diagnosis and outcome of childhood perineurioma

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 1999

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

Inhaled Solvent Abuse Mimicking Chronic Inflammatory Demyelinating Polyradiculoneuropathy

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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.

artículo científico

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

artículo científico publicado en 2016

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

artículo científico publicado en 2022

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

artículo científico publicado en 2020

Novel MPZ mutations and congenital hypomyelinating neuropathy

artículo científico publicado en 2010

Pediatric monomelic amyotrophy: evidence for poliomyelitis in vulnerable populations

artículo científico publicado en 2009

Pediatric sciatic neuropathy associated with neoplasms

artículo científico publicado en 2011

Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

WATERSHED INFARCTION DUE TO ACUTE HYPEREOSINOPHILIA

artículo científico publicado en 2008

Lista de obras de Hugh J. McMillan

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

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

Acute asymmetrical spinal infarct secondary to fibrocartilaginous embolism

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

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

Autoimmune neuromuscular disorders in childhood

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

Brachial Plexopathy and Nonaccidental Injury: Role of the Neurologist

Brainstem compression: a predictor of postoperative cerebellar mutism.

Canadian Paediatric Neurology Workforce Survey and Consensus Statement

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

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

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

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

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

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

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

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

Cranial nerve hypertrophy in pediatric chronic inflammatory demyelinating polyradiculoneuropathy

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

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

Diagnosis and outcome of childhood perineurioma

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

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

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

Electrophysiologic Evidence for Anterior Horn Cell Disease in Amyoplasia

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

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

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

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

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

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

Inhaled Solvent Abuse Mimicking Chronic Inflammatory Demyelinating Polyradiculoneuropathy

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

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.

Mononeuritis multiplex associated with minocycline in an adolescent

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

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

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

Novel MPZ mutations and congenital hypomyelinating neuropathy

Pediatric monomelic amyotrophy: evidence for poliomyelitis in vulnerable populations

Pediatric sciatic neuropathy associated with neoplasms

Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy

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

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

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

WATERSHED INFARCTION DUE TO ACUTE HYPEREOSINOPHILIA