Kathryn North
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Australian paediatric physician, neurologist, and clinical geneticist
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Why Is Kathryn North Influential?
(Suggest an Edit or Addition)According to Wikipedia, Kathryn Nance North is a paediatric physician, neurologist, and clinical geneticist. In 2013, she was appointed Director of the Murdoch Childrens Research Institute and was named the David Danks Professor of Child Health Research at the University of Melbourne. In 2012, North was appointed chair of the National Health and Medical Research Council Research Committee. In 2014, she was appointed vice chair of the Global Alliance for Genomics and Health and co-chair of its Clinical Working Group.
Kathryn North's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis (2000) (1109)
- ACTN3 genotype is associated with human elite athletic performance. (2003) (792)
- Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. (2000) (631)
- The nature and frequency of cognitive deficits in children with neurofibromatosis type 1 (2005) (539)
- Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy (1999) (405)
- Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. (2001) (398)
- Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. (2007) (394)
- Distinctive patterns of microRNA expression in primary muscular disorders (2007) (357)
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing (2016) (349)
- Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans (2007) (300)
- A brief history of human disease genetics (2020) (288)
- An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. (2008) (276)
- Diagnostic approach to the congenital muscular dystrophies (2014) (263)
- MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes (2009) (249)
- Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 Cognitive Disorders Task Force. (1997) (246)
- A common nonsense mutation results in α-actinin-3 deficiency in the general population (1999) (241)
- Nemaline myopathy: A clinical study of 143 cases (2001) (238)
- Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy (2005) (235)
- Genes and human elite athletic performance (2005) (232)
- Approach to the diagnosis of congenital myopathies (2014) (223)
- A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. (1999) (220)
- A gene for speed? The evolution and function of α‐actinin‐3 (2004) (218)
- Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks (2007) (214)
- Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder. (2006) (203)
- Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patients. (2004) (199)
- Specific learning disability in children with neurofibromatosis type 1 (1994) (195)
- Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. (2013) (194)
- Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. (2013) (177)
- Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way (2013) (172)
- Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. (2004) (172)
- The expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review (2001) (162)
- Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion (2010) (159)
- Cerebrovascular complications in Ehlers‐Danlos syndrome type IV (1995) (159)
- Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. (2015) (158)
- Brain involvement in muscular dystrophies with defective dystroglycan glycosylation (2008) (158)
- Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. (2013) (156)
- SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance (2006) (156)
- ACTN3: A Genetic Influence on Muscle Function and Athletic Performance (2007) (151)
- Mutations in TPM3 are a common cause of congenital fiber type disproportion (2008) (149)
- No Evidence of a Common DNA Variant Profile Specific to World Class Endurance Athletes (2016) (148)
- Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (2010) (147)
- Correction for Eisenberg et al., Distinctive patterns of microRNA expression in primary muscular disorders (2008) (147)
- Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. (2013) (146)
- Assessment of executive function and attention in children with neurofibromatosis type 1: Relationships between cognitive measures and real-world behavior (2011) (145)
- Actin mutations are one cause of congenital fibre type disproportion (2004) (143)
- Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. (1997) (142)
- Neurofibromatosis Type 1: Review of the First 200 Patients in an Australian Clinic (1993) (140)
- Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (2014) (140)
- Consensus Statement on Standard of Care for Congenital Myopathies (2012) (139)
- Mutations in ACTN 4 , encoding α-actinin-4 , cause familial focal segmental glomerulosclerosis (2000) (137)
- ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study (2016) (136)
- Limb–girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis (2008) (134)
- Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy (1996) (134)
- Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1). (2002) (133)
- The ACTN3 R577X polymorphism in East and West African athletes. (2007) (130)
- COGNITIVE FUNCTION AND ACADEMIC PERFORMANCE IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1 (1995) (129)
- Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene (2001) (128)
- Social skills of children with neurofibromatosis type 1 (2004) (125)
- ACTN3 and ACE genotypes in elite Jamaican and US sprinters. (2010) (123)
- Clinical course correlates poorly with muscle pathology in nemaline myopathy (2003) (122)
- Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair (2012) (122)
- ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. (2013) (121)
- A gene for speed? The evolution and function of alpha-actinin-3. (2004) (120)
- Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness (2017) (113)
- A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism. (2010) (112)
- Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies (2014) (106)
- Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1 (2003) (105)
- Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement (2015) (105)
- Magnetic resonance imaging of muscle in nemaline myopathy (2004) (104)
- Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy (2010) (100)
- Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. (2011) (99)
- Brain structure and function in neurofibromatosis type 1: current concepts and future directions (2010) (98)
- Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy (2016) (98)
- Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. (2004) (93)
- Congenital Fiber Type Disproportion—30 Years On (2003) (93)
- A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy. (2001) (92)
- T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning (2007) (92)
- Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmers. (2013) (91)
- MRI findings in children with neurofibromatosis type 1: a prospective study (1996) (90)
- A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse. (2008) (90)
- Athlome Project Consortium: a concerted effort to discover genomic and other "omic" markers of athletic performance. (2016) (89)
- Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies (2014) (89)
- Cognitive and Psychological Profile of Males With Becker Muscular Dystrophy (2008) (89)
- Cardiac aquaporin expression in humans, rats, and mice. (2006) (88)
- Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT). (2016) (88)
- Calpains, Cleaved Mini-DysferlinC72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair (2013) (85)
- Diagnosis and etiology of congenital muscular dystrophy (2008) (84)
- Decreased Bone Mineral Density in Neurofibromatosis Type 1: Results From a Pediatric Cohort (2007) (84)
- Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. (1995) (83)
- Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. (2010) (82)
- Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch (2011) (81)
- Neurofibromatosis type 1. (2000) (80)
- Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin (2004) (80)
- Loss of IL-15 receptor α alters the endurance, fatigability, and metabolic characteristics of mouse fast skeletal muscles. (2011) (79)
- Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. (2006) (79)
- Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. (2001) (78)
- Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. (2015) (78)
- Natural history of pulmonary function in collagen VI-related myopathies. (2013) (78)
- Age-related findings on MRI in neurofibromatosis type 1 (2006) (76)
- Review Article : Cognitive Deficits in Neurofibromatosis 1 (2002) (76)
- Congenital Titinopathy: Comprehensive characterization and pathogenic insights (2018) (75)
- Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. (2008) (74)
- Cerebrovascular dysplasia in neurofibromatosis type 1 (2008) (74)
- alpha-actinin-3 and performance. (2009) (73)
- Corpus Callosum Morphology and Its Relationship to Cognitive Function in Neurofibromatosis Type 1 (2010) (72)
- Mechanisms underlying intranuclear rod formation. (2007) (72)
- Increased connective tissue growth factor associated with cardiac fibrosis in the mdx mouse model of dystrophic cardiomyopathy (2011) (72)
- The Impact of ADHD on the Cognitive and Academic Functioning of Children With NF1 (2012) (72)
- Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1 (2016) (71)
- Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases (2017) (69)
- Molecular consequences of dominant Bethlem myopathy collagen VI mutations (2007) (69)
- Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies (2015) (68)
- Defining α-skeletal and α-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy (2005) (67)
- Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. (1996) (67)
- UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle? (2008) (67)
- Fetal akinesia: review of the genetics of the neuromuscular causes (2011) (64)
- Mental, motor, and language development of toddlers with neurofibromatosis type 1. (2011) (63)
- The pathogenesis of ACTA1‐related congenital fiber type disproportion (2007) (63)
- Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity (2008) (63)
- Single section Western blot (2003) (63)
- Review Article : Neurofibromatosis 1: Clinical Review and Exceptions to the Rules (2002) (63)
- Expression of aquaporin 1 in human cardiac and skeletal muscle. (2004) (62)
- Evidence Based Selection of Commonly Used RT-qPCR Reference Genes for the Analysis of Mouse Skeletal Muscle (2014) (61)
- Health-related Quality of Life in Boys With Duchenne Muscular Dystrophy: Agreement Between Parents and Their Sons (2010) (61)
- Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy (2015) (61)
- Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management. (1995) (61)
- Dietary L-Tyrosine Supplementation in Nemaline Myopathy (2008) (60)
- Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair (2014) (59)
- An αtropomyosin mutation alters dimer preference in nemaline myopathy (2005) (58)
- Diagnosis and etiology of congenital muscular dystrophy: We are halfway there (2016) (58)
- Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins (2010) (58)
- What’s new in congenital myopathies? (2008) (57)
- Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. (2011) (56)
- Myocardial water handling and the role of aquaporins. (2006) (54)
- Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred (2006) (53)
- The effect of α-actinin-3 deficiency on muscle aging (2011) (52)
- Expanding the phenotype of GMPPB mutations. (2015) (52)
- Hand involvement in children with Charcot–Marie-Tooth disease type 1A (2008) (51)
- How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'. (2016) (49)
- Neurofibromatosis Type 2 (2017) (48)
- Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness (2007) (47)
- Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (2015) (47)
- Longitudinal assessment of cognition and T2‐hyperintensities in NF1: An 18‐year study (2014) (47)
- Cap disease due to mutation of the beta-tropomyosin gene (TPM2) (2009) (47)
- Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy (2011) (46)
- No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes (2018) (46)
- Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant (2018) (45)
- Does attention‐deficit–hyperactivity disorder exacerbate executive dysfunction in children with neurofibromatosis type 1? (2012) (45)
- Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor. (2016) (44)
- Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. (2005) (44)
- Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy (2017) (44)
- The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric α‐actinins (2010) (44)
- The self-concept of children and adolescents with neurofibromatosis type 1. (2007) (43)
- Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy (1996) (43)
- K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. (2013) (43)
- Neurofibromatosis 1 in childhood. (1998) (43)
- Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle. (2008) (43)
- CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3). (1995) (43)
- Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis (2018) (42)
- Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. (2004) (42)
- Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway* (2010) (41)
- Clinical approach to the diagnosis of congenital myopathies. (2011) (41)
- α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse. (2011) (41)
- NF1 is a critical regulator of muscle development and metabolism. (2014) (41)
- Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile (2002) (41)
- Reliability of quantifying foot and ankle muscle strength in very young children (2008) (40)
- Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease (2018) (40)
- Interventions for increasing ankle range of motion in patients with neuromuscular disease. (2010) (40)
- Optic gliomas in neurofibromatosis type 1: role of visual evoked potentials. (1994) (40)
- ‘An artefact gone awry’: Identification of the first case of nemaline myopathy by Dr R.D.K. Reye (2000) (39)
- Idiopathic hypothalamic dysfunction: a paraneoplastic syndrome? (1995) (39)
- An Examination of Lexical and Sublexical Reading Skills in Children with Neurofibromatosis Type 1 (2008) (38)
- Utility of positron emission tomography for tumour surveillance in children with neurofibromatosis type 1 (2010) (38)
- Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1 (2014) (38)
- Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial. (2010) (37)
- Health status of boys with Duchenne muscular dystrophy: A parent's perspective (2011) (37)
- Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion. (2016) (37)
- Altered Ca2+ Kinetics Associated with α-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human Evolution (2015) (37)
- Idiopathic Hypothalamic Dysfunction With Dilated Unresponsive Pupils: Report of Two Cases (1994) (36)
- Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention‐deficit‐ hyperactivity disorder (2006) (36)
- The Future of Genomic Research in Athletic Performance and Adaptation to Training. (2016) (36)
- Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. (2016) (36)
- Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a (2009) (35)
- ACTN3 Allele Frequency in Humans Covaries with Global Latitudinal Gradient (2013) (35)
- Genetics and sport performance: current challenges and directions to the future (2014) (35)
- Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome (2016) (35)
- Muscular dystrophy associated with α-dystroglycan deficiency in Sphynx and Devon Rex cats (2008) (35)
- A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies (2013) (35)
- Factors Associated With Foot and Ankle Strength in Healthy Preschool-Age Children and Age-Matched Cases of Charcot-Marie-Tooth Disease Type 1A (2010) (34)
- Congenital muscular dystrophy with primary partial laminin α2 chain deficiency: Molecular study (2001) (34)
- Why is α-Actinin-3 Deficiency So Common in the General Population? The Evolution of Athletic Performance (2008) (34)
- The Syntrophin-Dystrobrevin Subcomplex in Human Neuromuscular Disorders (2005) (34)
- What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: New Frontiers (2010) (33)
- Neurofibromatosis 2011: a report of the Children’s Tumor Foundation Annual Meeting (2011) (33)
- The genetic and neuroanatomical basis of social dysfunction: Lessons from neurofibromatosis type 1 (2014) (33)
- Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families (2007) (33)
- Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies. (1998) (33)
- Deficiency of the syntrophins and α-dystrobrevin in patients with inherited myopathy (2003) (32)
- The Cognitive Profile of Preschool-Aged Children with Neurofibromatosis Type 1 (2010) (32)
- Social functioning in adults with neurofibromatosis type 1. (2013) (32)
- Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. (2015) (32)
- TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy (2016) (31)
- The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults (2015) (31)
- Skeletal muscle and motor deficits in Neurofibromatosis Type 1 (2015) (31)
- Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis (2007) (31)
- Nemaline myopathy : current concepts (30)
- Dermoid of cavernous sinus resulting in isolated oculomotor nerve palsy. (1993) (30)
- Clinical utility gene card for: Centronuclear and myotubular myopathies (2012) (30)
- α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization. (2014) (30)
- Myocardial ischemia is more important than the effects of cardiopulmonary bypass on myocardial water handling and postoperative dysfunction: a pediatric animal model. (2008) (29)
- The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research (2012) (29)
- Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3 (2010) (29)
- Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency. (2005) (28)
- Visual-evoked potentials in the assessment of optic gliomas. (2001) (28)
- Clinical aspects of neurofibromatosis 1. (1998) (28)
- Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy (2008) (28)
- Back to the future: Proceedings from the 2010 NF Conference (2011) (27)
- Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies (2015) (27)
- In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies (2010) (27)
- Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge (2013) (27)
- Mutations in BICD 2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia (2013) (27)
- Myosin storage (hyaline body) myopathy: A case report (2006) (27)
- Altered cellular localization of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiency (2011) (27)
- Sniff nasal inspiratory pressure and sleep disordered breathing in childhood neuromuscular disorders (2012) (26)
- Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients (2008) (26)
- Eosinophil function in adipose tissue is regulated by Krüppel-like factor 3 (KLF3) (2020) (26)
- Fifth day fits in the newborn (1989) (26)
- Oxidative phosphorylation defect associated with primary adrenal insufficiency. (1996) (26)
- Cognitive features that distinguish preschool-age children with neurofibromatosis type 1 from their peers: a matched case-control study. (2013) (26)
- Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. (2012) (26)
- Theory of mind in children with Neurofibromatosis Type 1. (2016) (25)
- Paired associate learning in children with neurofibromatosis type 1: implications for clinical trials (2012) (24)
- A novel X‐linked form of congenital fiber‐type disproportion (2005) (24)
- Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice (2011) (24)
- Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins α‐actinin‐2 and α‐actinin‐3 as modulators of biological sensors (2010) (24)
- Validation of an automated computational method for skeletal muscle fibre morphometry analysis (2010) (24)
- Muscle weakness in children with neurofibromatosis type 1 (2015) (24)
- Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1 (2019) (23)
- TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy (2020) (23)
- Pseudoseizures Caused by Hyperventilation Resembling Absence Epilepsy (1990) (23)
- Inherited neuromuscular disorders: Pathway to diagnosis (2012) (23)
- Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy. (2015) (22)
- Phylogenetic analysis of gene structure and alternative splicing in alpha-actinins. (2010) (22)
- Attenuated platelet sensitivity to collagen in patients with neurofibromatosis type 1 (1995) (22)
- Rodent models for resolving extremes of exercise and health. (2016) (22)
- Collagen VI Microfibril Formation Is Abolished by an α2(VI) von Willebrand Factor Type A Domain Mutation in a Patient with Ullrich Congenital Muscular Dystrophy* (2010) (22)
- Androgen Action via the Androgen Receptor in Neurons Within the Brain Positively Regulates Muscle Mass in Male Mice (2017) (22)
- Therapeutics for Childhood Neurofibromatosis Type 1 and Type 2 (2011) (21)
- Mutations in TPM2 and congenital fibre type disproportion (2012) (21)
- Dysfunction induced by ischemia versus edema: does edema matter? (2009) (21)
- Neurofibromatosis type 1 in childhood (1997) (21)
- An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. (2005) (20)
- Skeletal muscle alpha-actin diseases. (2008) (20)
- Hemiplegia Due to Posterior Cerebral Artery Occlusion (1993) (20)
- Branched fibers from old fast-twitch dystrophic muscles are the sites of terminal damage in muscular dystrophy. (2018) (19)
- Identical twins with Cohen syndrome. (1995) (19)
- Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1 (2019) (19)
- Feasibility of a Computerized Method to Measure Quality of “Everyday” Life in Children with Neuromuscular Disorders (2010) (18)
- Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with severe nemaline myopathy (1997) (18)
- CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies (2014) (18)
- The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance. (2018) (18)
- Rippling muscle disease (2006) (17)
- Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. (2016) (17)
- Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine (2014) (17)
- Brain-Stem Encephalitis Caused by Epstein-Barr Virus (1993) (17)
- Relationship between foot strength and motor function in preschool-age children (2009) (17)
- Congenital Muscular Dystrophy Associated With Merosin Deficiency (1996) (16)
- Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. (2003) (16)
- Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies (2011) (15)
- The neural basis of deficient response inhibition in children with neurofibromatosis type 1: Evidence from a functional MRI study (2017) (15)
- Epidermolysis bullosa with late‐onset muscular dystrophy and plectin deficiency (2011) (15)
- Facial Emotion Recognition, Face Scan Paths, and Face Perception in Children With Neurofibromatosis Type 1 (2017) (14)
- The future of precision medicine in Australia (2018) (14)
- Cognitive function and academic performance in neurofibrornatosis 1 (1997) (14)
- A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients (2011) (14)
- Psychological aspects of von Recklinghausen neurofibromatosis (NF1) (1996) (13)
- Muscle weakness in TPM 3-myopathy is due to reduced Ca 2 +-sensitivity and impaired acto-myosin cross-bridge cycling in slow fi bres (2015) (13)
- Developmental trajectories of young children with neurofibromatosis type 1: a longitudinal study from 21 to 40 months of age. (2015) (13)
- Effects of methylphenidate on cognition and behaviour in children with neurofibromatosis type 1: a study protocol for a randomised placebo-controlled crossover trial (2018) (13)
- External ophthalmoplegia in neuromuscular disorders: Case report and review of the literature (1997) (13)
- A novel syndrome of episodic muscle weakness maps to xp22.3. (1999) (13)
- Sequence analysis of the equine ACTN3 gene in Australian horse breeds. (2014) (12)
- Attention to faces in social context in children with neurofibromatosis type 1 (2018) (12)
- The kids are OK: it is discrimination not same‐sex parents that harms children (2017) (12)
- Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: evidence for clinical trial outcomes (2020) (12)
- Sarcomeric α-actinins and their role in human muscle disease (2009) (11)
- The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance. (2016) (11)
- Preliteracy impairments in children with neurofibromatosis type 1 (2018) (11)
- Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels (2000) (11)
- The ACTN3 Gene and Human Performance (2010) (11)
- A “human knockout” model to investigate the influence of the α-actinin-3 protein on exercise-induced mitochondrial adaptations (2019) (11)
- Bilateral infantile cataractogenesis in a patient with deficiency of complex I, a mitochondrial electron transport chain enzyme. (1995) (11)
- Social Competence in Children with Neurofibromatosis Type 1: Relationships with Psychopathology and Cognitive Ability (2016) (10)
- Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans (2017) (10)
- The Cognitive Profile of NF1 Children: Therapeutic Implications (2012) (10)
- G.P.41 The identification of LGMD2G (TCAP) in Australia (2012) (10)
- Phonics Training Improves Reading in Children with Neurofibromatosis Type 1: A Prospective Intervention Trial. (2016) (10)
- LMOD3: the “missing link” in nemaline myopathy? (2015) (10)
- Evaluation of primary haemostasis in people with neurofibromatosis type 1. (2004) (9)
- Integrating Transwomen and Female Athletes with Differences of Sex Development (DSD) into Elite Competition: The FIMS 2021 Consensus Statement (2021) (9)
- Lifespan Analysis of Dystrophic mdx Fast-Twitch Muscle Morphology and Its Impact on Contractile Function (2021) (9)
- Impaired engagement of the ventral attention system in neurofibromatosis type 1 (2018) (9)
- Actn3 Genotype Is Not Associated With Elite Endurance Athlete Status In Ethiopians And Kenyans: 2469 3:30 PM - 3:45 PM (2005) (9)
- Cleaved Mini-DysferlinC 72 , and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair (2013) (8)
- Can in-the-moment diary methods measure health-related quality of life in Duchenne muscular dystrophy? (2017) (8)
- Myocardial membrane injury in pediatric cardiac surgery: An animal model. (2009) (8)
- A Gene for Speed: The Emerging Role of (cid:1) -Actinin-3 in Muscle Metabolism (2010) (8)
- Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1: protocol for a cross-sectional multimodal study (2019) (8)
- Congenital and Other Structural Myopathies (2015) (8)
- Postexercise headache in menopausal women (1993) (8)
- Uptake of health monitoring and disease self‐management in Australian adults with neurofibromatosis type 1: strategies to improve care (2016) (7)
- Dystrophin-negative slow-twitch soleus muscles are not susceptible to eccentric contraction induced injury over the lifespan of the mdx mouse. (2021) (7)
- NEW PERSPECTIVES IN PEDIATRIC NEUROMUSCULAR DISORDERS Hotel Intercontinental Sydney, Sydney, Australia, August 28, 1998 (1999) (7)
- Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas (2012) (6)
- 17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one. (1995) (5)
- Visual spatial learning outcomes for clinical trials in neurofibromatosis type 1 (2020) (5)
- ACTN3 genotype influences skeletal muscle mass regulation and response to dexamethasone (2020) (4)
- Profiling the Word Reading Abilities of School-Age Children with Neurofibromatosis Type 1 (2020) (4)
- Autism in neurofibromatosis type 1: misuse of covariance to dismiss autistic trait burden (2020) (4)
- Using complementary DNA from MyoD‐transduced fibroblasts to sequence large muscle genes (2011) (4)
- Treatment for plexiform neurofibromas in patients with NF1. (2012) (4)
- Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders (2008) (4)
- Direct-to-consumer genetic testing for predicting sports performance and talent identi fi cation: Consensus statement (2015) (3)
- Genes and Elite Athletes (2004) (3)
- Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient. (2021) (3)
- Delineating the autistic phenotype in children with neurofibromatosis type 1 (2022) (3)
- Molecular Genetics of Nemaline Myopathy (2012) (3)
- A study of FHL 1 , BAG 3 , MATR 3 , PTRF and TCAP in Australian muscular dystrophy patients (2011) (3)
- Diagnosis of the Muscular Dystrophies (2012) (3)
- Activating internal ribosome entry to treat Duchenne muscular dystrophy (2014) (3)
- T.P.1.10 Reliability and validity of measuring foot and ankle muscle strength in very young children (2008) (3)
- Cognitive impairment in neurofibromatosis type 1: Significance of MRI abnormalities (1994) (3)
- Mutant actins that cause congenital myopathy affect sarcomeric protein expression in patient muscle and produce intranuclear and cytoplasmic aggregates in cultured myoblasts (2004) (3)
- A gene for speed: the ACTN3 R577X polymorphism influences muscle performance (2006) (2)
- Auditory Dysfunction Among Individuals With Neurofibromatosis Type 1 (2021) (2)
- P3.32 The molecular genetics of monogenic neuromuscular disorders characterised by reduced foetal movement (2011) (2)
- ACTN3 Genotypes and Obesity-, Power- and Endurance-Related Phenotypes in Adolescent Greeks: 782 (2006) (2)
- The Central Nervous System in Neurofibromatosis Type 1 (2003) (2)
- Corrigendum to “The Learning Disabilities Network (LeaDNet): Using Neurofibromatosis Type 1 [NF1] as a Paradigm for Translational Research” (2013) (2)
- Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease (2016) (2)
- Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching (2021) (2)
- Bone Mineral Density in Children With Neurofibromatosis Type 1. Authors' reply (2008) (2)
- Generation of four iPSC lines from Neurofibromatosis Type 1 patients. (2020) (1)
- Unravelling the thin filament: mechanisms of weakness in inherited muscle disease (2006) (1)
- Spinal Muscular Atrophy (2003) (1)
- Use ofWhole-Exome Sequencing for Diagnosis of Limb-GirdleMuscular Dystrophy Outcomes and Lessons Learned (2015) (1)
- Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics (2021) (1)
- The MMAAS Project: An Observational Human Study Investigating the Effect of Anabolic Androgenic Steroid Use on Gene Expression and the Molecular Mechanism of Muscle Memory. (2022) (1)
- A procedure for the computerized analysis of cleft palate speech transcription (2012) (1)
- Congenital Muscular Dystrophies (2003) (1)
- Isolated extensor digitorum longus muscles from old mdx dystrophic mice show little force recovery 120 minutes after eccentric damage (2020) (1)
- Sex- and age-related differences in autistic behaviours in children with neurofibromatosis type 1. (2022) (1)
- Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases (2017) (1)
- G.P.1.05 RYR1 is a common cause of congenital fibre type disproportion with ptosis, ophthalmoplegia, scoliosis and pronounced axial muscle weakness (2009) (1)
- Eosinophil function in adipose tissue is regulated by Krüppel-like factor 3 (KLF3) (2020) (1)
- No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes (2018) (1)
- The identification of LGMD2G (TCAP) in Australia (2012) (1)
- ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study (2016) (1)
- G.P.35 Analysis of a large patient cohort with recessive truncating TTN mutations reveals novel clinical features and a diverse range of muscle pathologies (2014) (1)
- Cognition and behaviour in neurofibromatosis type 1: pathogenesis and emerging therapies (2013) (1)
- Nemaline Myopathy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY (1993) (1)
- Nemaline myopathy: currentconcepts (1997) (1)
- A gene for speed? The function and evolutionary history of a-actinin-3 (2004) (1)
- TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy (2020) (1)
- Report of the National Neurofibromatosis Foundation (NNFF) Task Force on Treatment of Neurofibromatosis 1 (1997) (1)
- G.O.4 α-Actinin-3 regulates muscle glycogen phosphorylase: A potential mechanism for the metabolic consequences of the common human null allele of ACTN3 (2009) (1)
- Reproducibility of cognitive endpoints in clinical trials (2019) (1)
- Αlpha- actinin- 3’s role in the genetic control of muscle strength and performance (2019) (1)
- Delineating Visual Habituation Profiles in Preschoolers with Neurofibromatosis Type 1 and Autism Spectrum Disorder: A Cross-Syndrome Study. (2023) (1)
- C.P.1.04 Defining diagnostic boundaries for congenital fibre type disproportion (2007) (1)
- The mediating role of ADHD symptoms between executive function and social skills in children with neurofibromatosis type 1 (2021) (1)
- muscleresistance exercise in human skeletal Temporal response of desmin and dystrophin proteins (2015) (0)
- CHARGE association in a child with de novo inv dup (14)(q22{yields}q24.3) (1994) (0)
- Comparison of endocytosis in dynamin 2 mutations producing neuropathy and in mutations causing myopathy (2009) (0)
- Contractile and fatigue properties of fast-twitch EDL muscle from an α-actinin-3 knockout mouse (2008) (0)
- Figure 1. [Pathology of nemaline myopathy. Gomori...]. (2015) (0)
- Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis (2018) (0)
- Chapter 12 - Genes and human elite athletic performance (2012) (0)
- O.10 Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP) (2013) (0)
- P5.63. RNAlater® simplifies the transport of muscle sections for mRNA analysis over long distances (2011) (0)
- Investigating the pathogenesis of ACTA1-related congenital fibre type disproportion (2006) (0)
- C.I.1 Gene Wars: Episode V. The clinician strikes back (2012) (0)
- The natural history of neuropsychological functioning and brain abnormalities in patients with neurofibromatosis type 1 (2002) (0)
- Faculty Opinions recommendation of Muscle-specific CRISPR/Cas9 dystrophin gene editing ameliorates pathophysiology in a mouse model for Duchenne muscular dystrophy. (2017) (0)
- Lower prevalence of performance genes are linked with increased severity of obesity in youth (2019) (0)
- Faculty Opinions recommendation of Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning. (2015) (0)
- O08 A gene for speed: ACTN3, athletes, evolution and impact on human health (2014) (0)
- Faculty Opinions recommendation of Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. (2012) (0)
- Table 4. [Selected TPM3 Pathogenic Variants]. (2015) (0)
- Unravelling the effects of caveolin-3 mutations in limb-girdle muscular dystrophy (2005) (0)
- Table 2. [Phenotype Correlations with Mutated Genes]. (2015) (0)
- OD01 Clinical characterisation of a large international congenital titinopathy cohort (2017) (0)
- Neuropsychological factors associated with performance on the rey-osterrieth complex figure test in children with neurofibromatosis type 1. (2023) (0)
- Table 3. [Selected NEB Pathogenic Variants]. (2015) (0)
- G.O.2 A clinical and pathological study of congenital fibre type disproportion (2006) (0)
- Funny looking kids (1993) (0)
- C.P.1.03 TPM3 is a recurrent cause of congenital fibre type disproportion and is associated with a consistent phenotype (2007) (0)
- P.P.6 04 The clinical and molecular characterisation of calpain deficiency in patients with neuromuscular disorders (2006) (0)
- The central nervous system in neurofibromatiosis type 1 (2003) (0)
- Profile of the Neurofibromatosis Type 1 (NF1) Phenotype: Natural History, Neuropsychological and Psychosocial Aspects (2001) (0)
- Faculty Opinions recommendation of Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. (2014) (0)
- Clinical aspects of neurofibroma tosis I (1998) (0)
- 1FC2.3 The Identification of a Viable Outcome Measure in the Collagen VI Myopathies Promotes Progress Toward Clinical Trials (2011) (0)
- Table 5. [Selected TNNT1 Pathogenic Variants]. (2015) (0)
- Approach to the diagnosis of congenital myopathies q (2014) (0)
- Table 6. [Selected CFL2 Pathogenic Variants]. (2015) (0)
- REDUCED PLASMA MEMBRANE EXPRESSION OF DYSFERLIN MUTANTS IS DUE TO ACCELERATED ENDOCYTOSIS VIA A SYNTAXIN-4 ASSOCIATED PATHWAY. (2010) (0)
- A new Institute for Neuromuscular Research in Sydney, Australia (2000) (0)
- α-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human (2015) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in Nemaline Myopathy]. (2015) (0)
- G.O.3 Mutations in contactin-1, a neuronal cell adhesion molecule expressed at the neuromuscular junction, cause a novel form of congenital lethal myopathy (2008) (0)
- Faculty Opinions recommendation of Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy. (2016) (0)
- P3.37 New histopathlogical features in Centronuclear Myopathy caused by DNM2 mutations – clues to disease pathogenesis (2011) (0)
- Atypical Local Interference Affects Global Processing in Children with Neurofibromatosis Type 1 (2017) (0)
- P3.27 Childhood mitochondrial neuropathies: Clinical, electrophysiological and histopathological characteristics (2011) (0)
- Case report Myosin storage (hyaline body) myopathy: A case report (2006) (0)
- S.P.53 Interventions for increasing ankle flexibility in patients with neuromuscular disease: A Cochrane Systematic Review (2008) (0)
- An a2(VI) C1 mutation prevents collagen VI microfibril formation (2008) (0)
- G.P.46 Screening for deletion and duplication mutations in genes implicated in LGMD (2012) (0)
- G.P.9.08 Insights into the pathological basis of autosomal dominant distal spinal muscular atrophy from a large Australian family (2009) (0)
- Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas (2012) (0)
- Allelic Variation in Key Fitness Genes is Linked with Increased Severity of Obesity in Overweight/Obese Youth (2018) (0)
- S.P.55 Transition and outcomes for young men with Duchenne muscular dystrophy in New South Wales (2012) (0)
- Alterations in calcium handling in isolated fast fibres from speed gene knockout mice (2013) (0)
- RARE MYOPATHIES AND EXPERIMENTAL APPROACHES - POSTER PRESENTATIONS G.P.125 ACTN3 genotype influences skeletal muscle performance through alterations in calcineurin signaling (2012) (0)
- Case reports Rippling muscle disease (2006) (0)
- 59. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency (2010) (0)
- P1.41 Recurrent mutations in TPM3 likely arise from gene conversion events linked to multiple Tm5NM1 pseudogenes in the genome (2010) (0)
- G.P.219 Diagnosing the limb-girdle muscular dystrophies using whole exome sequencing: An Australian cohort (2014) (0)
- improve our understanding of the nature of social interaction impairments in NF 1 and add to the growing body of literature indicating the STG as a critical brain region for social cognition (2014) (0)
- Author response. (2015) (0)
- An α-actinin-3 Knockout Mouse Suffers Increased Sarcomeric Damage from Eccentric Exercise: 1111 (2006) (0)
- Managing Posttraumatic Stress Disorder After Traumatic Brain Injury (2006) (0)
- P1.49 The importance and challenge of diagnosing myopathies due to LMNA (2010) (0)
- Table 7. [Selected KBTBD13 Pathogenic Variants]. (2015) (0)
- Chapter 5 The Cognitive Profile of NF 1 Children : Therapeutic Implications (2019) (0)
- Children with neurofibromatosis type 1: Neuropsychological and neuroradiological aspects (2004) (0)
- Children with neurofibromatosis type 1: Neuropsychological and neuroradiological aspects (2004) (0)
- Whole body vibration training for children and adolescents with congenital myopathy (2019) (0)
- G.O.2 A gene for speed: The influence of ACTN3 on muscle performance in health and disease (2015) (0)
- Impaired engagement of the ventral attention system in neurofibromatosis type 1 (2017) (0)
- P.I.5 Mutations in SIL1 cause Marinesco–Sjögren syndrome, a cerebellar ataxia with cataract and myopathy (2006) (0)
- Bmpr1a expression correlates with the osteogenic sensitivity of muscle progenitors (2009) (0)
- Actin and nemaline-related myopathy (2000) (0)
- A WINDOW INTO MOTOR NEURON DEVELOPMENT: WHOLE EXOME SEQUENCING OF DOMINANT CONGENITAL SPINAL MUSCULAR ATROPHY (DCSMA) (2013) (0)
- Bioinformatic and experimental validation of 3' exon alternative splicing of Myosin Phosphatase Targeting (MYPT) subunits in human muscles (2014) (0)
- Reply from the Authors (1995) (0)
- Developmental delay, expressive aphasia, hypotonia and dysmorphism in two brothers: an X‐linked mental retardation syndrome? (1998) (0)
- 610: Dietary L-tyrosine supplementation in nemaline myopathy (2007) (0)
- Increased Connective Tissue Growth Factor Expression Associated with Functional Impairment and Extracellular Matrix Remodelling in Dystrophin-Deficient Heart (2007) (0)
- Developmental expression of syntrophin and dystrobrevin in human skeletal muscle (2002) (0)
- Neurodevelopmental outcome in propionic acidemia (1994) (0)
- C.I.3 Overview of congenital myopathies (2007) (0)
- Children with Neurofi bromatosis Type 1: Positron Emission Tomography (2012) (0)
- α‐actinin‐3 deficiency is associated with increased exercise performance and training‐induced changes in mitochondrial respiration in humans (2015) (0)
- P3.51 A new form of autosomal recessive myopathy associated with male hypogonadism links to chromosome 11q (2011) (0)
- T.P.1.14 Interventions for increasing ankle flexibility in patients with neuromuscular disease: A Cochrane systematic review (2008) (0)
- Calcium transients in single muscle fibres isolated from the flexor digitorium brevis of α-actinin-3-deficient mice (2016) (0)
- Clinical outcome measures in Collagen 6 (COL6) and Laminin alpha 2(LAMA2) related congenital muscular dystrophy (2012) (0)
- ΑLpha-Actinin-3’s Role in the Genetic Control of Muscle Strength and Performance (2019) (0)
- A randomized controlled trial of remote microphone listening devices to treat auditory deficits in children with neurofibromatosis type 1 (2022) (0)
- - Actinin-3 Deficiency : A Pretrained State for Improved Endurance and Poorer Sprint Performance ? (2010) (0)
- Correction to: Integrating Transwomen and Female Athletes with Differences of Sex Development (DSD) into Elite Competition: The FIMS 2021 Consensus Statement (2021) (0)
- Associate Professor Nigel Clarke PhD, MBChB, FRACP (1966–2015) (2015) (0)
- Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics (2022) (0)
- Volume 1 and 2 Reviewers (2005) (0)
- P.10.21 Next-generation sequencing meets genetic diagnostics: Development of a comprehensive workflow for neuromuscular disorders (2013) (0)
- Thriving in the present : the politics and poetics of waiting and hope of the young women of Delhi’s aspiring middle class (2018) (0)
- Bone Mineral Density in Children With Neurofibromatosis Type 1 (2008) (0)
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