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Lista de obras de Monique Ryan

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Acute ataxia in childhood.

artículo científico publicado en 2003

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

Anterior spinal cord infarction owing to possible fibrocartilaginous embolism

artículo científico publicado en 2004

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

artículo científico publicado en 2009

Ataluren treatment of patients with nonsense mutation dystrophinopathy

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Atypical childhood chronic inflammatory demyelinating polyneuropathy

artículo científico publicado en 2010

Auditory function in children with Charcot-Marie-Tooth disease

artículo científico publicado en 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

artículo científico publicado en 2016

Autoimmune myasthenia gravis, immunotherapy and thymectomy in children

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

artículo científico publicado en 2007

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

artículo científico publicado en 2020

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

artículo científico publicado en 2022

Binaural speech processing in individuals with auditory neuropathy

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2000

Clinical course correlates poorly with muscle pathology in nemaline myopathy.

artículo científico publicado en 2003

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

artículo científico publicado en 2016

Cognitive and psychological profile of males with Becker muscular dystrophy

artículo científico publicado en 2007

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

Congenital titinopathy: Comprehensive characterisation and pathogenic insights.

artículo científico publicado en 2018

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

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

artículo científico publicado en 2007

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

artículo científico publicado en 2003

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

artículo científico publicado en 2018

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2004

Demyelinating prenatal and infantile developmental neuropathies

artículo científico publicado en 2012

Describing nutrition in spinal muscular atrophy: A systematic review

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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).

artículo científico publicado en 2011

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

artículo científico publicado en 2017

Dietary L-tyrosine supplementation in nemaline myopathy.

artículo científico publicado en 2007

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 2017

Evolution of foot and ankle manifestations in children with CMT1A

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2010

Fifty years of paediatric neurology in Australasia

artículo científico publicado en 2016

Gaining consent for publication in difficult cases involving children

artículo científico publicado en 2008

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

artículo científico

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

artículo científico publicado en 2017

Guillain-Barré syndrome in childhood

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Hereditary peripheral neuropathies of childhood

artículo científico publicado en 2005

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

artículo científico publicado en 2004

High resolution chromosomal microarray in undiagnosed neurological disorders

artículo científico publicado en 2013

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

artículo científico publicado en 2008

Homocystinuria presenting as psychosis in an adolescent

artículo científico publicado en 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

artículo científico publicado en 2017

Influenza A encephalitis with movement disorder

artículo científico publicado en 1999

Inhaled corticosteroids, adrenal suppression and benign intracranial hypertension.

artículo científico publicado en 2006

Inherited myopathies and muscular dystrophies

artículo científico publicado en 2008

Interventions for the prevention and treatment of pes cavus

artículo científico publicado en 2007

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

artículo científico publicado en 2018

Juvenile Huntington disease

artículo científico publicado en 2006

Juvenile Parkinsonism

scientific article published on 13 September 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

article

Myasthenia gravis and premature ovarian failure

artículo científico publicado en 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

artículo científico publicado en 2013

Nemaline myopathy: a clinical study of 143 cases

artículo científico publicado en 2001

Neurofilament as a potential biomarker for spinal muscular atrophy

artículo científico publicado en 2019

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

artículo científico publicado en 2016

Neurological disorders affecting the lower limb in children

artículo científico publicado en 2011

Neuromuscular complications of intensive care

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Nusinersen for SMA: expanded access programme.

artículo científico publicado en 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

artículo científico publicado en 2007

Overview of Pediatric Peripheral Neuropathies

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

artículo científico publicado el 1 de noviembre de 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.

artículo científico publicado en 2016

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

artículo científico publicado en 2010

Pediatric Guillain-Barré syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2008

Pediatric sciatic neuropathies: a 30-year prospective study

artículo científico publicado en 2011

Pediatric sciatic neuropathy associated with neoplasms

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Peripheral neuropathy in cardiofaciocutaneous syndrome

artículo científico publicado en 2007

Peripheral neuropathy in pediatric systemic lupus erythematosus

artículo científico publicado en 2003

Peroneal neuropathy from ankle-foot orthoses

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2009

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

artículo científico publicado en 2019

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

artículo científico publicado en 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).

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Thalidomide neuropathy in childhood

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico publicado en 2020

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

article

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