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List of works by Kathryn North

17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one

article

A brief history of human disease genetics

scientific article published on 08 January 2020

A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.

scientific article published in April 1999

A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism

scientific article published on August 2010

A gene for speed? The evolution and function of alpha-actinin-3.

scientific article

A novel X-linked form of congenital fiber-type disproportion

scientific article published in November 2005

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

scientific article

A procedure for the computerized analysis of cleft palate speech transcription

scientific article published on 5 July 2011

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients

scientific article published on 17 June 2011

A transformative translational change programme to introduce genomics into healthcare: a complexity and implementation science study protocol

article

ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study.

scientific article

ACTN3 allele frequency in humans covaries with global latitudinal gradient

scientific article

ACTN3 and ACE genotypes in elite Jamaican and US sprinters

scientific article

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.

scientific article published on 16 September 2013

ACTN3 genotype is associated with human elite athletic performance

scientific article

ACTN3: A genetic influence on muscle function and athletic performance

scientific article published on January 2007

Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3

scientific journal article

Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.

scientific article

Actin mutations are one cause of congenital fibre type disproportion

scientific article published in November 2004

Activating internal ribosome entry to treat Duchenne muscular dystrophy

scientific article published on 01 September 2014

Age-related findings on MRI in neurofibromatosis type 1.

scientific article

All the World's a Stage: Facilitating Discovery Science and Improved Cancer Care through the Global Alliance for Genomics and Health

scientific article published on November 2015

Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution

scientific article

Altered cellular localization of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiency

scientific article

An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance

scientific journal article

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

scientific article published in January 2005

An examination of lexical and sublexical reading skills in children with neurofibromatosis type 1.

scientific article published in September 2008

Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement

Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion

scientific article published on 17 December 2015

Androgen Action via the Androgen Receptor in Neurons Within the Brain Positively Regulates Muscle Mass in Male Mice.

scientific article published in October 2017

Approach to the diagnosis of congenital myopathies

scientific article

Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins alpha-actinin-2 and alpha-actinin-3 as modulators of biological sensors

scientific article published on 31 May 2010

Assessment of executive function and attention in children with neurofibromatosis type 1: Relationships between cognitive measures and real-world behavior

scientific article published on 01 January 2011

Associate Professor Nigel Clarke PhD, MBChB, FRACP (1966–2015).

scientific article published in December 2015

Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmers.

scientific article published in May 2013

Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks.

scientific article

Athlome Project Consortium: a concerted effort to discover genomic and other "omic" markers of athletic performance

scientific article published on 29 December 2015

Attention to faces in social context in children with neurofibromatosis type 1

scientific article published on 05 June 2018

Attenuated platelet sensitivity to collagen in patients with neurofibromatosis type 1

scientific article published on 01 March 1995

Atypical Local Interference Affects Global Processing in Children with Neurofibromatosis Type 1

scientific article published on 11 April 2017

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

scientific article published on 01 July 2019

Author response

Autism in neurofibromatosis type 1: misuse of covariance to dismiss autistic trait burden

scientific article published on 20 August 2020

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

scientific article

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred

scientific article

BRANCHED FIBERS FROM OLD FAST-TWITCH DYSTROPHIC MUSCLES ARE THE SITES OF TERMINAL DAMAGE IN MUSCULAR DYSTROPHY.

scientific article published on 7 February 2018

Back to the future: proceedings from the 2010 NF Conference.

scientific article published on 22 December 2010

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

scientific article

Brain structure and function in neurofibromatosis type 1: current concepts and future directions.

scientific article published on March 2010

Building a learning community of Australian clinical genomics: a social network study of the Australian Genomic Health Alliance

scientific article published on 22 February 2019

C2C12 co-culture on a fibroblast substratum enables sustained survival of contractile, highly differentiated myotubes with peripheral nuclei and adult fast myosin expression.

scientific article

CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3)

scientific article published on 01 July 1995

COGNITIVE FUNCTION AND ACADEMIC PERFORMANCE IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.

scientific article published on 17 January 2014

Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair.

scientific article

Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair.

scientific article published in March 2013

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

scientific article

Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

scientific article (publication date: May 2009)

Cardiac aquaporin expression in humans, rats, and mice

scientific journal article

Cerebrovascular complications in Ehlers-Danlos syndrome type IV.

scientific article published on December 1995

Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients

scientific article

Children with Neurofi bromatosis Type 1: Positron Emission Tomography

Clinical Approach to the Diagnosis of Congenital Myopathies ⬇️

scientific article published on December 1, 2011

Clinical course correlates poorly with muscle pathology in nemaline myopathy.

scientific article

Clinical utility gene card for: Centronuclear and myotubular myopathies

scientific article

Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels

scientific article published in July 2000

Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1

scientific article published on 14 December 2019

Cognitive and psychological profile of males with Becker muscular dystrophy

scientific article published on 3 December 2007

Cognitive deficits in neurofibromatosis 1.

scientific article

Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy

scientific article published in February 1996

Cognitive features that distinguish preschool-age children with neurofibromatosis type 1 from their peers: a matched case-control study

scientific article published in August 2013

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

scientific article published on September 2008

Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy

scientific article

Complex I deficiency in association with structural abnormalities of the diaphragm and brain

scientific article

Congenital Muscular Dystrophy Associated With Merosin Deficiency

scientific article published on 01 July 1996

Congenital fiber type disproportion--30 years on.

scientific article

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

scientific article published on 25 April 2018

Consensus statement on standard of care for congenital myopathies

scientific article published on March 2012

Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.

scientific article published on 8 February 2010

Corrigendum to “The Learning Disabilities Network (LeaDNet): Using Neurofibromatosis Type 1 [NF1] as a Paradigm for Translational Research”

scholarly article published in American Journal of Medical Genetics

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

scientific article published on 3 March 2017

Decreased bone mineral density in neurofibromatosis type 1: results from a pediatric cohort

scientific article published on 01 June 2007

Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy

scientific article published on 01 August 1996

Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling

scientific article published on 02 May 2011

Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy

scientific article

Dermoid of cavernous sinus resulting in isolated oculomotor nerve palsy

scientific article

Developmental trajectories of young children with neurofibromatosis type 1: a longitudinal study from 21 to 40 months of age.

scientific article published on 15 January 2015

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

scientific article published on 9 May 2016

Diagnostic approach to the congenital muscular dystrophies

scientific article

Dietary L-tyrosine supplementation in nemaline myopathy.

scientific article

Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.

scientific article

Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement

scientific article

Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT).

scientific article published on 19 October 2016

Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.

scientific article published on September 2008

Distinctive patterns of microRNA expression in primary muscular disorders

scientific article

Does attention-deficit-hyperactivity disorder exacerbate executive dysfunction in children with neurofibromatosis type 1?

scientific article published on 28 July 2012

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores.

scientific article

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

scientific article published on 24 November 2004

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

scientific article

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

scientific article published in April 2011

Dysfunction induced by ischemia versus edema: does edema matter?

scientific article published on July 2009

Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis

scientific article published on 15 February 2007

Effects of methylphenidate on cognition and behaviour in children with neurofibromatosis type 1: a study protocol for a randomised placebo-controlled crossover trial

scientific article published on 30 August 2018

Eosinophil function in adipose tissue is regulated by Krüppel-like factor 3 (KLF3)

scientific article published on 10 June 2020

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency

scientific article published on 01 July 2011

Evaluation of primary haemostasis in people with neurofibromatosis type 1

scholarly article by E. J. Favaloro et al published October 2004 in International Journal of Laboratory Hematology

Evidence based selection of commonly used RT-qPCR reference genes for the analysis of mouse skeletal muscle

scientific article

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

scientific article published on 31 January 2017

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

scientific article published on 15 June 2010

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

scientific article

Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Asso

scientific article

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders

scientific article

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

scientific article published on 12 March 2010

Expanding the phenotype of GMPPB mutations.

scientific article published on 12 February 2015

Expression of aquaporin 1 in human cardiac and skeletal muscle.

scientific article

External ophthalmoplegia in neuromuscular disorders: case report and review of the literature

scientific article published on May 1997

Facial emotion recognition, face scan paths, and face perception in children with neurofibromatosis type 1.

scientific article published on 20 March 2017

Factors associated with foot and ankle strength in healthy preschool-age children and age-matched cases of Charcot-Marie-Tooth disease type 1A

scientific article published on 11 August 2009

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

scientific article

Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair

scientific article

Fetal akinesia: review of the genetics of the neuromuscular causes

scientific article published on 07 October 2011

Fever and spastic quadriparesis caused by Mycoplasma pneumoniae

scientific article

Generation of four iPSC lines from Neurofibromatosis Type 1 patients

scientific article published on 01 October 2020

Genes and human elite athletic performance

scientific article

Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way ⬇️

scientific article published on September 1, 2013

Genotype?phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle ?-actin

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

Hemiplegia due to posterior cerebral artery occlusion

scientific article published on 01 November 1993

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

article

How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'.

scientific article

Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy

article

Identical twins with Cohen syndrome

scientific article

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

scientific article

Idiopathic hypothalamic dysfunction with dilated unresponsive pupils: report of two cases.

scientific article

Idiopathic hypothalamic dysfunction: a paraneoplastic syndrome?

scientific article published in The Lancet

Impaired engagement of the ventral attention system in neurofibromatosis type 1.

scientific article published on 31 March 2017

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

scientific article published on 04 April 2012

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

In vitro analysis of rod composition and actin dynamics in inherited myopathies.

scientific article published on May 2010

Increased connective tissue growth factor associated with cardiac fibrosis in the mdx mouse model of dystrophic cardiomyopathy

scientific article

Inherited neuromuscular disorders: pathway to diagnosis

scientific article

Integrating Genomics into Healthcare: A Global Responsibility

scientific article published on 01 January 2019

Interventions for increasing ankle range of motion in patients with neuromuscular disease

scientific article (publication date: 17 February 2010)

Interventions for increasing ankle range of motion in patients with neuromuscular disease

scientific article

Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness

scientific article published on December 2007

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing and disease

scientific article published on 08 November 2018

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

scientific article

LMOD3: the "missing link" in nemaline myopathy?

scientific article published on 26 August 2015

Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor.

scientific article published on 19 January 2016

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.

scientific article published on 12 July 2017

Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder

scientific article published in December 2006

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

scientific article published on 24 September 2014

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

scientific article published on 02 January 2015

Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys.

scientific article

Longitudinal assessment of cognition and T2-hyperintensities in NF1: An 18-year study

scientific article published on 19 December 2013

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

scientific journal article

Loss of IL-15 receptor α alters the endurance, fatigability, and metabolic characteristics of mouse fast skeletal muscles.

scientific article

Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation

scientific article published on 17 February 2021

MRI findings in children with neurofibromatosis type 1: a prospective study.

scientific article published in July 1996

MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes

scientific article

Magnetic resonance imaging of muscle in nemaline myopathy

Mechanisms underlying intranuclear rod formation.

scientific article published on 10 October 2007

Mental, motor, and language development of toddlers with neurofibromatosis type 1.

scientific article published on 20 November 2010

Microwave radiation can alter protein conformation without bulk heating ⬇️

scientific article published on May 22, 2003

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

scientific article

Molecular Genetics of Nemaline Myopathy

article

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

article

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

article

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

scientific article

Muscle weakness in children with neurofibromatosis type 1.

scientific article

Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats.

scientific article

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

scientific article (publication date: July 2014)

Mutation update: the spectra of nebulin variants and associated myopathies

scientific article

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

scientific article

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

scientific article

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

scientific article

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

scientific article published on 06 June 2013

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

scientific article

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

scientific article

Mutations in TPM2 and congenital fibre type disproportion

scientific article published on 24 July 2012

Mutations in TPM3 are a common cause of congenital fiber type disproportion

scientific article

Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy

scientific article

Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a

scientific article published on 15 May 2009

Myocardial ischemia is more important than the effects of cardiopulmonary bypass on myocardial water handling and postoperative dysfunction: a pediatric animal model

scientific article published on 23 May 2008

Myocardial membrane injury in pediatric cardiac surgery: An animal model.

scientific article published on 23 February 2009

Myocardial water handling and the role of aquaporins

scientific article published on 6 June 2006

Myosin storage (hyaline body) myopathy: a case report

scientific article

NF1 is a critical regulator of muscle development and metabolism

scientific article

Natural history of pulmonary function in collagen VI-related myopathies

scientific article

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

scientific article published on 19 December 2017

Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H).

scientific article published in December 2007

Nemaline myopathy: a clinical study of 143 cases

scientific article (publication date: September 2001)

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

scientific article

Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management

scientific article published in June 1995

Neurofibromatosis 1 in childhood

scientific article

Neurofibromatosis 1: clinical review and exceptions to the rules

scientific article

Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting.

scientific article published on 16 November 2011

Neurofibromatosis Type 2.

scientific article

Neurofibromatosis of the small intestine mesentery in a child with neurofibromatosis type 1

scientific article published on 01 December 1997

Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patients

scientific article published on March 2004

Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic

scientific article

No Evidence of a Common DNA Variant Profile Specific to World Class Endurance Athletes

scientific article published on 29 January 2016

No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes

scientific article published on 3 January 2018

Optic gliomas in neurofibromatosis type 1: Role of visual evoked potentials

scientific article published on 01 March 1994

Outcome of noninvasive ventilation in children with neuromuscular disease

scientific article published in January 2007

Oxidative phosphorylation defect associated with primary adrenal insufficiency

article

Paired associate learning in children with neurofibromatosis type 1: implications for clinical trials.

scientific article published on 9 August 2012

Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas ⬇️

scientific article published on December 1, 2012

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

scientific article

Phonics Training Improves Reading in Children with Neurofibromatosis Type 1: A Prospective Intervention Trial

scientific article published on 29 July 2016

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.

scientific article

Phylogenetic analysis of gene structure and alternative splicing in alpha-actinins

scientific article published on 6 November 2009

Postexercise headache in menopausal women

scientific article published in The Lancet

Preliteracy impairments in children with neurofibromatosis type 1

scientific article published on 18 April 2018

Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile

scientific article published on 01 March 2002

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

scientific article

Profiling the Word Reading Abilities of School-Age Children with Neurofibromatosis Type 1

scientific article published on 16 November 2020

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease

scientific article published on 27 January 2016

Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice.

scientific article published on 30 September 2010

Pseudoseizures caused by hyperventilation resembling absence epilepsy

scientific article published in October 1990

Psychological aspects of von Recklinghausen neurofibromatosis (NF1)

scientific article published on 01 September 1996

Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency

scientific article published in February 2005

Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1.

scientific article

Recent advances in diagnosis of the childhood muscular dystrophies ⬇️

scientific article published on June 1, 1997

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

scientific article

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

scientific article published in July 2010

Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway

scientific article

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

scientific article

Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1.

scientific article published on 4 January 2014

Relationship between foot strength and motor function in preschool-age children

scientific article published on 3 December 2008

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

scientific article published in May 2008

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

scientific article

Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1

scientific article published on 03 December 2019

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

scientific article published on 28 September 2014

Rippling muscle disease

scientific article published on 24 May 2006

Rodent models for resolving extremes of exercise and health

scientific article published on 22 September 2015

SEPN1: associated with congenital fiber-type disproportion and insulin resistance

scientific article

Sequence analysis of the equine ACTN3 gene in Australian horse breeds.

scientific article

Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial

scientific article published on 01 January 2010

Single section Western blot: Improving the molecular diagnosis of the muscular dystrophies

scientific article published on 01 July 2003

Skeletal muscle alpha-actin diseases.

scientific article

Sniff nasal inspiratory pressure and sleep disordered breathing in childhood neuromuscular disorders

scientific article

Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis

scientific article published on 11 August 2018

Social functioning in adults with neurofibromatosis type 1.

scientific article published on 2 August 2013

Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: evidence for clinical trial outcomes

scientific article published on 17 March 2020

Social skills of children with neurofibromatosis type 1.

scientific article published in August 2004

Specific learning disability in children with neurofibromatosis type 1: significance of MRI abnormalities

scientific article published in May 1994

Spinal Muscular Atrophy

T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning

scientific article

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy

scientific article published on 24 May 2016

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

scientific article published in May 2016

The ACTN3 R577X polymorphism in East and West African athletes

scientific article

The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance

scientific article published on 26 April 2018

The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance

scientific article published on October 2015

The Future of Genomic Research in Athletic Performance and Adaptation to Training

scientific article published on 10 June 2016

The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults

scientific article published on 19 April 2015

The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research.

scientific article published on 20 July 2012

The cognitive profile of preschool-aged children with neurofibromatosis type 1.

scientific article published on 25 May 2010

The effect of α-actinin-3 deficiency on muscle aging

scientific article published on 26 November 2010

The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins.

scientific article published on January 2010

The genetic and neuroanatomical basis of social dysfunction: lessons from neurofibromatosis type 1.

scientific article

The impact of ADHD on the cognitive and academic functioning of children with NF1.

scientific article published in January 2012

The kids are OK: it is discrimination not same-sex parents that harms children

scientific article published on 01 November 2017

The nature and frequency of cognitive deficits in children with neurofibromatosis type 1.

scientific article

The neural basis of deficient response inhibition in children with neurofibromatosis type 1: Evidence from a functional MRI study

scientific article published on 6 May 2017

The pathogenesis of ACTA1-related congenital fiber type disproportion

scientific article

The self-concept of children and adolescents with neurofibromatosis type 1.

scientific article published in July 2007

The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders

scientific article published in April 2005

Theory of mind in children with Neurofibromatosis Type 1.

scientific article published on 11 January 2016

Therapeutics for childhood neurofibromatosis type 1 and type 2.

scientific article published on December 2011

Treatment for plexiform neurofibromas in patients with NF1.

scientific article

Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle

scientific article published on 01 January 2008

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?

scientific article

Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1: protocol for a cross-sectional multimodal study

scientific article published on 26 September 2019

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

scientific article published on 05 October 2015

Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes

scholarly article

Utility of positron emission tomography for tumour surveillance in children with neurofibromatosis type 1.

scientific article published on 24 February 2010

Validation of an automated computational method for skeletal muscle fibre morphometry analysis

scientific article published on 17 July 2010

Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

scientific article published on 29 May 2007

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

scientific article published on 2 September 2016

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

scientific journal article

Visual spatial learning outcomes for clinical trials in neurofibromatosis type 1

scientific article published on 05 February 2020

Visual-evoked potentials in the assessment of optic gliomas

scientific article published in January 2001

What's new in congenital myopathies?

scientific article

What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers

scientific article published on 01 February 2010

Why is alpha-actinin-3 deficiency so common in the general population? The evolution of athletic performance

scientific article

Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge

scientific article

alpha-actinin-3 and performance

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α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle

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