Kathryn N North

Kathryn N North

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Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.

Am J Hum Genet 2019 Jul;105(1):7-14

Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612707PMC
July 2019

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

Dev Med Child Neurol 2019 02 5;61(2):174-180. Epub 2018 Jun 5.

Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Vic., Australia.

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http://dx.doi.org/10.1111/dmcn.13928DOI Listing
February 2019

Integrating Genomics into Healthcare: A Global Responsibility.

Am J Hum Genet 2019 01;104(1):13-20

Australian Genomics Health Alliance, Melbourne VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia; Global Alliance for Genomics and Health, 661 University Avenue, Suite 510, Toronto, ON M5G 0A3, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323624PMC
January 2019

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

Hum Mutat 2018 12 8;39(12):1774-1787. Epub 2018 Nov 8.

Institute for Health and Sport (iHeS), Victoria University, Victoria, Australia.

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http://doi.wiley.com/10.1002/humu.23663
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http://dx.doi.org/10.1002/humu.23663DOI Listing
December 2018

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

Neuropsychol Rev 2018 09 11;28(3):317-340. Epub 2018 Aug 11.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1007/s11065-018-9380-xDOI Listing
September 2018

Preliteracy impairments in children with neurofibromatosis type 1.

Dev Med Child Neurol 2018 07 18;60(7):703-710. Epub 2018 Apr 18.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.

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http://doi.wiley.com/10.1111/dmcn.13768
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http://dx.doi.org/10.1111/dmcn.13768DOI Listing
July 2018

Branched fibers from old fast-twitch dystrophic muscles are the sites of terminal damage in muscular dystrophy.

Am J Physiol Cell Physiol 2018 06 7;314(6):C662-C674. Epub 2018 Feb 7.

School of Medical Sciences, University of New South Wales , Sidney, New South Wales , Australia.

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http://dx.doi.org/10.1152/ajpcell.00161.2017DOI Listing
June 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance.

Am J Hum Genet 2018 05 26;102(5):845-857. Epub 2018 Apr 26.

Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, The Royal Children's Hospital, Melbourne, VIC 3052, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986729PMC
May 2018

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

Brain Imaging Behav 2018 Apr;12(2):499-508

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Corner of Hainsworth Street and Hawkesbury Road, Westmead, NSW, 2145, Australia.

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http://dx.doi.org/10.1007/s11682-017-9717-8DOI Listing
April 2018

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

Cortex 2017 08 6;93:1-11. Epub 2017 May 6.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia; Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1016/j.cortex.2017.04.022DOI Listing
August 2017

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

Nat Commun 2017 07 12;8:16015. Epub 2017 Jul 12.

MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.

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http://dx.doi.org/10.1038/ncomms16015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510175PMC
July 2017

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

Qual Life Res 2017 05 3;26(5):1145-1152. Epub 2016 Nov 3.

Murdoch Children's Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1007/s11136-016-1442-zDOI Listing
May 2017

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

J Int Neuropsychol Soc 2017 05 11;23(5):446-450. Epub 2017 Apr 11.

1Murdoch Childrens Research Institute,The Royal Children's Hospital,Australia.

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https://www.cambridge.org/core/product/identifier/S135561771
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http://dx.doi.org/10.1017/S1355617717000224DOI Listing
May 2017

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.

Nat Commun 2017 01 31;8:14143. Epub 2017 Jan 31.

Institute for Neuroscience and Muscle Research, The Children's Hospital Westmead, New South Wales 2145, Australia.

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http://dx.doi.org/10.1038/ncomms14143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290331PMC
January 2017

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

JAMA Psychiatry 2016 Dec;73(12):1276-1284

Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri12Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri.

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http://dx.doi.org/10.1001/jamapsychiatry.2016.2600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5298203PMC
December 2016

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

Neurology 2016 Dec 9;87(24):2575-2584. Epub 2016 Nov 9.

From the Murdoch Children's Research Institute (J.M.P., S.J.C.H., K.N.N.), Royal Children's Hospital; Department of Paediatrics (J.M.P., K.N.N.), Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne; Children's Hospital Education Research Institute (B.B.), Children's Hospital at Westmead; Discipline of Paediatrics and Child Health (B.B.), University of Sydney, Australia; Department of Neurology (N.J.U., C.R.-C.), Boston Children's Hospital, MA; Department of Preventative Medicine (A.C.), School of Public Health (G.C.), Department of Psychology (J.D.A.), and Department of Genetics (B.K.), University of Alabama at Birmingham; Department of Neurology (T.R., S.H.O.), Children's Hospital of Los Angeles, CA; Center for Neuroscience and Behavioral Medicine (K.S.W., G.A.G., R.J.P., M.T.A.), Children's National Health System, Washington, DC; Pediatric Oncology Branch Center for Cancer Research (P.L.W.), National Cancer Institute, Bethesda, MD; Division of Neurology (J.T., S.J.H.), University of Chicago Medicine Comer Children's Hospital, IL; Human Genetics (E.S.) and Division of Neurology (A.W.B.), Cincinnati Children's Hospital Medical Center, OH; Department of Genetics (D.V.), University of Utah, Salt Lake City; Department of Pediatrics (L.K.), University of Texas Southwestern Medical Center, Dallas; Division of Oncology (M.F., C.L.A.), Children's Hospital of Philadelphia, PA; Department of Neurology (D.H.G., J.I.), Washington University School of Medicine in St Louis, MO; Gonda Neuroscience and Genetics Center (A.J.S.), University of California Los Angeles; Primary Children's Hospital (N.L.C.), Salt Lake City, UT; and University of Texas MD Anderson Cancer Center (P.L.S.), Houston.

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http://dx.doi.org/10.1212/WNL.0000000000003435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5207004PMC
December 2016

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

J Pediatr 2016 10 29;177:219-226.e2. Epub 2016 Jul 29.

Murdoch Childrens Research Institute, The Royal Children's Hospital, Australia; Department of Paediatrics, University of Melbourne, VIC, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2016.06.037DOI Listing
October 2016

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

Neurology 2016 Oct 2;87(14):1442-1448. Epub 2016 Sep 2.

From the Institute for Neuroscience and Muscle Research (G.L.O., M.Y., N.P., H.A.B., T.B.D., K.N.N., N.F.C., S.T.C.), Kids Research Institute, T.Y. Department of Neurology (M.M., R.W.), and Heart Centre for Children (C.T.), Children's Hospital at Westmead, Sydney; Discipline of Paediatrics and Child Health (G.L.O., M.M., H.A.B., K.N.N., N.F.C., S.T.C.), Faculty of Medicine, University of Sydney, Australia; Departments of Genetics (C.V.) and Child Neurology (J.M.F.), University of Groningen University Medical Center Groningen, the Netherlands; Analytic and Translational Genetics Unit (M.L., D.G.M.), Massachusetts General Hospital, Boston; Broad Institute of Harvard and Massachusetts Institute of Technology (M.L., D.G.M.), Cambridge; Department of Neurology (A.G.E.), Mayo Clinic, Rochester, MN; Murdoch Children's Research Institute (K.N.N.), Royal Children's Hospital, Victoria, Australia; and Department of Human Genetics (E.-J.K.), Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000003179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075972PMC
October 2016

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

Eur J Hum Genet 2016 08 27;24(8):1216-9. Epub 2016 Jan 27.

Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970689PMC
August 2016

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

Neuromuscul Disord 2016 08 24;26(8):500-3. Epub 2016 May 24.

Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, NSW 2006, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.05.013DOI Listing
August 2016

Theory of mind in children with Neurofibromatosis Type 1.

Neuropsychology 2016 05 11;30(4):439-48. Epub 2016 Jan 11.

Murdoch Childrens Research Institute and Department of Paediatrics, The University of Melbourne.

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http://dx.doi.org/10.1037/neu0000262DOI Listing
May 2016

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

Cardiovasc Res 2016 May 19;110(2):178-87. Epub 2016 Jan 19.

Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Locked Bag 4001, Westmead 2145, Australia Discipline of Paediatrics and Child Health, University of Sydney, Children's Hospital at Westmead Clinical School, Westmead 2145, Australia.

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https://academic.oup.com/cardiovascres/article-lookup/doi/10
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http://dx.doi.org/10.1093/cvr/cvw017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836626PMC
May 2016

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

Biochim Biophys Acta 2016 Apr 21;1863(4):686-93. Epub 2016 Jan 21.

Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, NSW 2006, Australia; School of Biotechnology and Biomolecular Sciences, University of New South Wales, NSW 2052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.bbamcr.2016.01.013DOI Listing
April 2016

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

Med Sci Sports Exerc 2016 Mar;48(3):509-20

Murdoch Childrens Research Institute, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, AUSTRALIA.

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http://dx.doi.org/10.1249/MSS.0000000000000784DOI Listing
March 2016

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

Hum Mol Genet 2016 Mar 17;25(5):866-77. Epub 2015 Dec 17.

Institute for Neuroscience and Muscle Research, The Children's Hospital Westmead, Sydney, NSW 2145, Australia, Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, NSW 2006, Australia, Murdoch Children's Research Institute, Melbourne, Vic 3052, Australia, Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia,

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http://dx.doi.org/10.1093/hmg/ddv613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754040PMC
March 2016

Rodent models for resolving extremes of exercise and health.

Physiol Genomics 2016 Feb 22;48(2):82-92. Epub 2015 Sep 22.

Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol i Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain; and Instituto de Investigación Hospital 12 de Octubre (i+12) and Universidad Europea, Madrid, Spain.

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http://dx.doi.org/10.1152/physiolgenomics.00077.2015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729696PMC
February 2016

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

J Genet Couns 2015 Dec 19;24(6):931-44. Epub 2015 Apr 19.

Murdoch Childrens Research Institute, Royal Children's Hospital, 50 Flemington Rd, Parkville, VIC, 3062, Australia.

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http://dx.doi.org/10.1007/s10897-015-9829-5DOI Listing
December 2015

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

JAMA Neurol 2015 Dec;72(12):1424-32

Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia2Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, New South Wales.

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http://dx.doi.org/10.1001/jamaneurol.2015.2274DOI Listing
December 2015

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

Brain 2015 Nov 10;138(Pt 11):e392. Epub 2015 Jun 10.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital. Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awv160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4719680PMC
November 2015

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

Hum Mol Genet 2015 Nov 24;24(22):6278-92. Epub 2015 Aug 24.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, Australia, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1093/hmg/ddv334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614700PMC
November 2015

LMOD3: the "missing link" in nemaline myopathy?

Oncotarget 2015 Sep;6(29):26548-9

Murdoch Children's Research Institute, The Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.18632/oncotarget.5267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694930PMC
September 2015

Muscle weakness in children with neurofibromatosis type 1.

Dev Med Child Neurol 2015 Aug 23;57(8):733-6. Epub 2015 Apr 23.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.

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http://dx.doi.org/10.1111/dmcn.12777DOI Listing
August 2015

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

PLoS Genet 2015 15;11(2):e1004862. Epub 2015 Jan 15.

Murdoch Children's Research Institute, Melbourne, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital Westmead, Sydney, Australia; Institute of Medical Biotechnology, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1371/journal.pgen.1004862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4295894PMC
July 2015

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.

Eur J Hum Genet 2015 Jun 3;23(6):883-6. Epub 2014 Sep 3.

1] Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, New South Wales, Australia [2] Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1038/ejhg.2014.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795062PMC
June 2015

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

J Pediatr 2015 Apr 15;166(4):1006-12.e1. Epub 2015 Jan 15.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, New South Wales, Australia; Discipline of Pediatrics and Child Health, Faculty of Medicine, University of Sydney, New South Wales, Australia; Murdoch Childrens Research Institute, The Royal Children's Hospital, Victoria, Australia; Department of Pediatrics, University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1016/j.jpeds.2014.12.012DOI Listing
April 2015

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

Brain 2015 Feb 14;138(Pt 2):293-310. Epub 2014 Dec 14.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital, Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awu356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306822PMC
February 2015

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

PLoS One 2014 11;9(2):e88653. Epub 2014 Feb 11.

Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, NSW, Australia ; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW, Australia ; Murdoch Childrens Research Institute (MCRI), The Royal Children's Hospital, Melbourne, VIC, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0088653PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3921188PMC
October 2014

Activating internal ribosome entry to treat Duchenne muscular dystrophy.

Nat Med 2014 Sep;20(9):987-8

Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1038/nm.3677DOI Listing
September 2014

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

Hum Brain Mapp 2014 May 24;35(5):2372-82. Epub 2013 Jul 24.

Institute for Neuroscience and Muscle Research, The Sydney Children's Hospital Network, Westmead, Australia; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Australia.

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http://dx.doi.org/10.1002/hbm.22334DOI Listing
May 2014

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

Dev Med Child Neurol 2014 May 4;56(5):468-74. Epub 2014 Jan 4.

Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.1111/dmcn.12361DOI Listing
May 2014

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

Am J Med Genet A 2014 Mar 19;164A(3):661-5. Epub 2013 Dec 19.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Pediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.36338
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http://dx.doi.org/10.1002/ajmg.a.36338DOI Listing
March 2014

Approach to the diagnosis of congenital myopathies.

Neuromuscul Disord 2014 Feb 18;24(2):97-116. Epub 2013 Nov 18.

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States.

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http://www.joshuafrase.org/uploads/2011-Diagnosis-Congenital
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http://linkinghub.elsevier.com/retrieve/pii/S096089661300994
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http://dx.doi.org/10.1016/j.nmd.2013.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5257342PMC
February 2014

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

J Pediatr 2013 Nov 1;163(5):1479-83.e1. Epub 2013 Aug 1.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, New South Wales, Australia; Discipline of Pediatrics and Child Health, Faculty of Medicine, University of Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.jpeds.2013.06.038DOI Listing
November 2013

Social functioning in adults with neurofibromatosis type 1.

Res Dev Disabil 2013 Oct 2;34(10):3393-9. Epub 2013 Aug 2.

The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, NSW 2006, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ridd.2013.07.011DOI Listing
October 2013

ACTN3 allele frequency in humans covaries with global latitudinal gradient.

PLoS One 2013 24;8(1):e52282. Epub 2013 Jan 24.

Department of Ecology and Evolutionary Biology, Brown University, Providence, Rhode Island, USA.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0052282PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3554748PMC
September 2013

Genes for elite power and sprint performance: ACTN3 leads the way.

Sports Med 2013 Sep;43(9):803-17

Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, PO Box 14428, Melbourne, VIC 8001, Australia.

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http://dx.doi.org/10.1007/s40279-013-0059-4DOI Listing
September 2013

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

Dev Neuropsychol 2012 ;37(7):590-600

Discipline of Pediatrics and Child Health, Sydney Medical School, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1080/87565641.2012.695831DOI Listing
April 2013

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

Am J Med Genet A 2013 Apr 20;161A(4):659-66. Epub 2013 Feb 20.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1002/ajmg.a.35840DOI Listing
April 2013

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

J Neurol 2013 Jan 9;260(1):214-20. Epub 2012 Aug 9.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, Sydney, NSW, 2145, Australia.

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http://dx.doi.org/10.1007/s00415-012-6620-5DOI Listing
January 2013

Treatment for plexiform neurofibromas in patients with NF1.

Lancet Oncol 2012 Dec 23;13(12):1175-6. Epub 2012 Oct 23.

TY Nelson Department of Neurology and Neurosurgery, Sydney Medical School, University of Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/S1470-2045(12)70435-7DOI Listing
December 2012

Mutations in TPM2 and congenital fibre type disproportion.

Neuromuscul Disord 2012 Nov 24;22(11):955-8. Epub 2012 Jul 24.

Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1016/j.nmd.2012.06.002DOI Listing
November 2012

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

Dev Med Child Neurol 2012 Oct 28;54(10):898-904. Epub 2012 Jul 28.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.

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http://doi.wiley.com/10.1111/j.1469-8749.2012.04357.x
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http://dx.doi.org/10.1111/j.1469-8749.2012.04357.xDOI Listing
October 2012

Inherited neuromuscular disorders: pathway to diagnosis.

J Paediatr Child Health 2012 Jun 3;48(6):458-65. Epub 2011 Nov 3.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02210.xDOI Listing
June 2012

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

Neuromuscul Disord 2012 Jun 3;22(6):528-33. Epub 2012 Mar 3.

Faculty of Medicine, The University of Sydney, Australia.

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http://dx.doi.org/10.1016/j.nmd.2012.02.002DOI Listing
June 2012

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

Brain 2012 Jun;135(Pt 6):1714-23

Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales, 2145, Australia.

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http://dx.doi.org/10.1093/brain/aws108DOI Listing
June 2012

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

Traffic 2012 Feb 6;13(2):185-94. Epub 2011 Sep 6.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW 2145, Australia.

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http://doi.wiley.com/10.1111/j.1600-0854.2011.01267.x
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February 2012

A procedure for the computerized analysis of cleft palate speech transcription.

Clin Linguist Phon 2012 Jan 5;26(1):18-38. Epub 2011 Jul 5.

The Cleft Palate Clinic, The Children's Hospital at Westmead, Westmead, NSW, Australia.

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http://dx.doi.org/10.3109/02699206.2011.584270DOI Listing
January 2012

Therapeutics for childhood neurofibromatosis type 1 and type 2.

Curr Treat Options Neurol 2011 Dec;13(6):529-43

TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Corner Hawkesbury Rd and Hainsworth Avenue, Westmead, NSW, 2145, Australia,

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http://dx.doi.org/10.1007/s11940-011-0142-9DOI Listing
December 2011

Fetal akinesia: review of the genetics of the neuromuscular causes.

J Med Genet 2011 Dec 7;48(12):793-801. Epub 2011 Oct 7.

Centre for Medical Research, University of Western Australia, Western Australia, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2011-100211DOI Listing
December 2011

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

Brain 2011 Dec 8;134(Pt 12):3516-29. Epub 2011 Nov 8.

Neuromuscular and Regenerative Medicine Unit, School of Medical Sciences, University of New South Wales, Kensington, NSW 2052, Australia.

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http://dx.doi.org/10.1093/brain/awr274DOI Listing
December 2011

Clinical approach to the diagnosis of congenital myopathies.

Authors:
Kathryn N North

Semin Pediatr Neurol 2011 Dec;18(4):216-20

Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/j.spen.2011.10.002DOI Listing
December 2011

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

Muscle Nerve 2011 Aug;44(2):280-2

Institute for Neuroscience and Muscle Research, Discipline of Paediatrics and Child Health, Children's Hospital at Westmead, University of Sydney, Locked Bag 4001, Westmead, New South Wales 2145, Australia.

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http://doi.wiley.com/10.1002/mus.22118
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August 2011