List of works by Monique Ryan

'A short time but a lovely little short time': Bereaved parents' experiences of having a child with spinal muscular atrophy type 1.

scientific article published on 10 September 2015

234. Early onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation

A diagnostic approach to recurrent myalgia and rhabdomyolysis in children

scientific article

A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A.

scientific article

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

scientific article published on 16 March 2020

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

scientific article

A multinational study on motor function in early-onset FSHD

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

scientific article

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

scientific article published on 3 March 2016

A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood

scientific article

Acute ataxia in childhood.

scientific article

Acute transverse myelitis and acute disseminated encephalomyelitis in childhood: spectrum or separate entities?

scientific article published in March 2009

Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in theSMNgene

scientific article published on 01 July 2008

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

scientific article published on 07 April 2015

Anterior spinal cord infarction owing to possible fibrocartilaginous embolism

scientific article published on 28 January 2004

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

scientific article published on 6 May 2009

Ataluren treatment of patients with nonsense mutation dystrophinopathy

scientific article

Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7

scientific article published on 01 September 2010

Atypical childhood chronic inflammatory demyelinating polyneuropathy

scientific article published on 01 August 2010

Auditory function in children with Charcot-Marie-Tooth disease

scientific article published on 19 April 2012

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

scientific article published on 01 October 2020

Authors' Response to Commentary

scientific article published on 01 January 2016

Autoimmune myasthenia gravis, immunotherapy and thymectomy in children

Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood

scientific article published on August 2007

Benefits of powered standing wheelchair devices for adolescents with Duchenne muscular dystrophy in the first year of use

scientific article published on 03 July 2020

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

scientific article published on 17 January 2022

Binaural speech processing in individuals with auditory neuropathy

scientific article

Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy

scientific article published on 19 August 2019

CMTX mimicking childhood chronic inflammatory demyelinating neuropathy with tremor

scientific article published in April 2005

Calf cramp in children with Charcot-Marie-Tooth disease: searching for therapeutic targets.

scientific article

Can in-the-moment diary methods measure health-related quality of life in Duchenne muscular dystrophy?

scientific article

Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study

scientific article published on 10 September 2020

Carpal Tunnel Syndrome Secondary to Ganglion Cyst in a Child

scientific article published on 31 January 2011

Central Nervous System Signs in X-Linked Charcot-Marie-Tooth Disease After Hyperventilation

scientific article published on 01 April 2008

Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8

scientific article published on 14 November 2019

Cerebral palsy is not a diagnosis: A case report of a novel atlastin-1 mutation

scientific article published in June 2016

Childhood chronic inflammatory demyelinating polyneuropathy: an overview of 10 cases in the modern era.

scientific article published on 29 January 2013

Childhood chronic inflammatory demyelinating polyneuropathy: clinical course and long-term outcome

scientific article published on 01 August 2000

Clinical course correlates poorly with muscle pathology in nemaline myopathy.

scientific article

Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015.

scientific article published on 25 April 2016

Cognitive and psychological profile of males with Becker muscular dystrophy

scientific article published on 3 December 2007

Communication about spinal muscular atrophy and genetic risk within families: An Australian pilot study

scientific article published on 29 May 2020

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

scientific article published on 16 July 2015

Concomitant transverse myelitis and acute motor axonal neuropathy in an adolescent.

scientific article published in November 2007

Congenital titinopathy: Comprehensive characterisation and pathogenic insights.

scientific article published on 25 April 2018

Correlates of calf cramp in children with Charcot-Marie-Tooth disease

Critical illness polyneuropathy and myopathy in pediatric intensive care: A review

scientific article published on January 2007

Current therapeutic strategies for patients with polyneuropathies secondary to inherited metabolic disorders

scientific article

DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans.

scientific article published in January 2018

De novo LMNA mutations cause a new form of congenital muscular dystrophy

scientific article published in August 2008

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

scientific article

Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.

scientific article

Delayed neurophysiologic abnormalities in Charcot-Marie-Tooth disease type 1A

scientific article published on 01 July 2004

Demyelinating prenatal and infantile developmental neuropathies

scientific article published on March 2012

Describing nutrition in spinal muscular atrophy: A systematic review

scientific article published on 10 May 2016

Deterioration in gait and functional ambulation in children and adolescents with Charcot-Marie-Tooth disease over 12 months.

scientific article published on 19 April 2017

Determinants of reduced health-related quality of life in pediatric inherited neuropathies

scientific article

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

scientific article published on 01 December 2018

Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS).

scientific article published on 20 May 2011

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

scientific article

Dietary L-tyrosine supplementation in nemaline myopathy.

scientific article

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

scientific article published on 23 March 2020

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

scientific article published on March 2016

Early-onset severe axonal neuropathy associated with optic atrophy and vocal cord paresis due to a mitofusin 2 mutation

Effect of oral curcumin on Déjérine-Sottas disease

scientific article published in October 2009

Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study

scientific article published on 21 September 2020

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency

scientific article published on 01 July 2011

Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

scholarly article published in Brain

Establishment of the Australasian paediatric Charcot-Marie-Tooth disease registry.

scientific article published on 15 February 2007

Evaluation of Serial Casting for Boys with Duchenne Muscular Dystrophy: A Case Report

scientific article

Evolution of foot and ankle manifestations in children with CMT1A

scientific article published on 01 February 2009

Evolution of foot manifestations in children with Charcot-Marie-Tooth disease

scientific article published on 26 September 2008

Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid

scientific article published on 01 September 2011

Falls in paediatric Charcot-Marie-Tooth disease: a 6-month prospective cohort study

scientific article published on 13 August 2018

False Negative Carrier Screening in Spinal Muscular Atrophy

scientific article published on 20 December 2019

Feasibility of a computerized method to measure quality of "everyday" life in children with neuromuscular disorders

scientific article

Fifty years of paediatric neurology in Australasia

scientific article

Gaining consent for publication in difficult cases involving children

scientific article published in the British Medical Journal

Gait and footwear in children and adolescents with Charcot-Marie-Tooth disease: A cross-sectional, case-controlled study

scientific article published on 19 March 2018

Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset

scientific article published on September 2012

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

scientific article published on 05 April 2017

Guillain-Barré syndrome in childhood

scientific article

Hand involvement in children with Charcot-Marie-Tooth disease type 1A.

scientific article

Health status of boys with Duchenne muscular dystrophy: a parent's perspective

scientific article published on 10 March 2011

Health-related quality of life in boys with Duchenne muscular dystrophy: agreement between parents and their sons

scientific article

Hereditary peripheral neuropathies of childhood

scientific article

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations

scientific article published in July 2004

High resolution chromosomal microarray in undiagnosed neurological disorders

scientific article published on 3 June 2013

Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated WithMitofusin 2Mutations

scientific article published on 01 November 2008

Homocystinuria presenting as psychosis in an adolescent

scientific article published in November 2002

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants

scientific article published on 25 September 2019

Infantile-Onset Myelin Protein Zero-Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia

scientific article published on 01 April 2017

Influenza A encephalitis with movement disorder

scientific article

Inhaled corticosteroids, adrenal suppression and benign intracranial hypertension.

scientific article

Inherited myopathies and muscular dystrophies

scientific article published on April 2008

Interventions for the prevention and treatment of pes cavus

scientific article

Investigation of the activation of the temporalis and masseter muscles in voluntary and spontaneous smile production.

scientific article

Juvenile Huntington disease

scientific article published in September 2006

Juvenile Parkinsonism

scientific article published on 13 September 2012

Juvenile polymyositis or paediatric muscular dystrophy: a detailed re-analysis of 13 cases

scientific article published on October 2009

King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.

scientific article published in September 2008

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

scientific article

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

scientific article published on 19 June 2017

Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy

scientific article published on 27 August 2020

Mobile arm supports in Duchenne muscular dystrophy: a pilot study of user experience and outcomes

scientific article published on 15 April 2020

Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy

scientific article published on 19 November 2020

Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A: prevalence and predictors

scientific article published on 30 November 2011

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

scientific article

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene

article

Myasthenia gravis and premature ovarian failure

scientific article published in August 2004

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

scientific article published on 15 September 2020

Natural history of pulmonary function in collagen VI-related myopathies

scientific article

Nemaline myopathy: a clinical study of 143 cases

scientific article (publication date: September 2001)

Neurofilament as a potential biomarker for spinal muscular atrophy

scientific article published on 17 April 2019

Neurologic Melioidosis: Case Report of a Rare Cause of Acute Flaccid Paralysis

scientific article

Neurological disorders affecting the lower limb in children

scientific article

Neuromuscular complications of intensive care

scientific article published on January 2013

Neuronal Ceroid Lipofuscinosis type 2: an Australian case series

scientific article published on 24 April 2020

Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A.

scientific article

Neurophysiologic findings in children presenting with pes cavus

scientific article published on 01 September 2010

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease

scientific article published on 27 July 2016

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

scientific article

Nusinersen for SMA: expanded access programme.

scientific article published on 16 March 2018

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

scientific article published on 12 September 2019

Observations of body mass index in Duchenne muscular dystrophy: a longitudinal study

scientific article published on 14 May 2014

Outcome of noninvasive ventilation in children with neuromuscular disease

scientific article published in January 2007

Overview of Pediatric Peripheral Neuropathies

Paediatric mononeuritis multiplex: a report of three cases and review of the literature ⬇️

scientific article published on November 1, 2003

Paralysis and a perihilar protuberance: an unusual presentation of sarcoidosis in a child

article by Danielle F Wurzel et al published April 2009 in Pediatric Pulmonology

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

scientific article published on 29 August 2020

Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation.

scientific article

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

scientific article published on July 2010

Pediatric Guillain-Barré syndrome

scientific article

Pediatric Neuroschistosomiasis: A Case Report and Review of the Literature

scientific article published on 01 November 2019

Pediatric Sciatic Neuropathies Due to Unusual Vascular Causes

scientific article published on 01 July 2008

Pediatric sciatic neuropathies: a 30-year prospective study

scientific article published on March 2011

Pediatric sciatic neuropathy associated with neoplasms

scientific article published in February 2011

Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A.

scientific article published on 9 January 2015

Peripheral neuropathy in cardiofaciocutaneous syndrome

scientific article published in April 2007

Peripheral neuropathy in pediatric systemic lupus erythematosus

scientific article published on 01 March 2003

Peroneal neuropathy from ankle-foot orthoses

scientific article published in July 2003

Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug

scientific article published on 13 September 2018

Physical activity and the use of standard and complementary therapies in Duchenne and Becker muscular dystrophies

scientific article published in February 2016

Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study

scientific article published on 12 June 2019

Physician attitudes towards ventilatory support for spinal muscular atrophy type 1 in Australasia.

scientific article published on 4 September 2007

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

scientific article published on 2 January 2013

Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy

scientific article published on 02 February 2019

Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy

scientific article published on 08 June 2020

Quality of life in children with Charcot-Marie-Tooth disease

scientific article

Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric charcot-marie-tooth disease type 1A

scientific article published on 01 August 2010

Recessive MYH7-related myopathy in two families

scientific article published on 12 April 2019

Reliability of quantifying foot and ankle muscle strength in very young children

scientific article published in May 2008

Respiration-related laryngeal electromyography in children with bilateral vocal fold paralysis

scientific article published on 01 November 2009

Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2).

scientific article published on 6 September 2007

Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.

scientific article published in May 2008

Spinal muscular atrophy type 1: is long-term mechanical ventilation ethical?

scientific article published in April 2007

Spontaneous intracranial hypotension in childhood: a case report and review of the literature

scientific article published on 22 February 2011

Strong correlation between the 6-minute walk test and accelerometry functional outcomes in boys with Duchenne muscular dystrophy

scientific article published on 23 April 2014

Thalidomide neuropathy in childhood

scientific article published on 26 November 2004

The Pharyngeal-Cervical-Brachial Form of Guillain-Barré Syndrome in Childhood

scientific article published on 01 October 2005

The effects of calf massage in boys with Duchenne muscular dystrophy: a prospective interventional study

scientific article published on 01 May 2020

The use of invasive ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion against

scientific article published on February 2008

Therapeutic Options to Improve Bone Health Outcomes in Duchenne Muscular Dystrophy: Zoledronic Acid and Pubertal Induction

scientific article published in December 2017

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype

scientific article published on 18 August 2011

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

scientific article published on 29 April 2010

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.

scientific article published on 6 April 2018

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

scientific article published on 25 February 2015

VENLAFAXINE INGESTION IN A 4-YEAR-OLD GIRL

scientific article published on 01 November 2012

Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function

scientific article published on 26 August 2019

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

scientific article

X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene

article

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