Monique M Ryan

Monique M Ryan

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Monique M Ryan

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

Neurology 2019 Sep 26;93(13):e1312-e1323. Epub 2019 Aug 26.

From ReveraGen Biopharma (E.P.H., J.M.M., K.N., J.v.d.A., L.S.C., J.M.D.), Rockville, MD; Binghamton University-SUNY (E.P.H., K.N.), NY: Camden Group (B.D.S., L.J.M.-G.), LLC, St. Louis, MO; Duke University (E.C.S.), Durham, NC; University of Texas Southwestern (D.C.), Dallas; Alberta Children's Hospital (J.K.M.), Calgary, Canada; University of California Davis (C.M.M.), Sacramento; Ann & Robert H. Lurie Children's Hospital (N.L.K.), Chicago, IL; Nemours Children's Hospital (R.S.F.), Orlando, FL; John Walton Muscular Dystrophy Research Centre (M.G., K.B.), Newcastle University, Newcastle-Upon-Tyne, UK; Queen Silvia Children's Hospital (M.T.), Gothenburg, Sweden; Schneider Children's Medical Center (Y.N.), Tel Aviv University, Israel; Royal Children's Hospital and Murdoch Children's Research Institute (M.M.R.), Melbourne, Australia; The Children's Hospital at Westmead (R.W.), Sydney, Australia; TRiNDS LLC (A.L.S., L.P.M., A.A., M.S., C.S.), Kensington, MD; Summit Analytical (M.J., P.S.), Denver, CO; Children's National Health System (J.v.d.A., L.S.C., A.C., H.G.-D.), Washington, DC; and University of Pittsburgh and Department of Veterans Affairs Medical Center (P.R.C.), PA.

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http://dx.doi.org/10.1212/WNL.0000000000008168DOI Listing
September 2019

Peripheral nerve disease secondary to systemic conditions in children.

Ther Adv Neurol Disord 2019 12;12:1756286419866367. Epub 2019 Aug 12.

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

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http://dx.doi.org/10.1177/1756286419866367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6691669PMC
August 2019

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

Front Neurol 2019 19;10:898. Epub 2019 Aug 19.

Department of Neurology, Sydney Children's Hospital, Sydney, NSW, Australia.

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http://dx.doi.org/10.3389/fneur.2019.00898DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6709682PMC
August 2019

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

Arch Dis Child 2019 Jun 13;104(6):535-540. Epub 2018 Aug 13.

Physiotherapy Department, The University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1136/archdischild-2018-314890DOI Listing
June 2019

Recessive MYH7-related myopathy in two families.

Neuromuscul Disord 2019 Jun 12;29(6):456-467. Epub 2019 Apr 12.

Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's&St Thomas' Hospital NHS Foundation Trust, London, UK; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College, London, UK; Department of Clinical and Basic Neuroscience, Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2019.04.002DOI Listing
June 2019

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

Neuromuscul Disord 2019 Mar 2;29(3):221-230. Epub 2019 Feb 2.

Telethon Kids Institute, University of Western Australia, PO Box 855, West Perth, WA 6872, Australia; School of Physiotherapy and Exercise Science, Curtin University, GPO Box U1987, Perth, WA 6845, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.01.010DOI Listing
March 2019

Pediatric Neuroschistosomiasis: A Case Report and Review of the Literature.

J Pediatric Infect Dis Soc 2019 Mar 6. Epub 2019 Mar 6.

Infectious Diseases Unit, Department of General Medicine, Victoria, Australia.

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https://academic.oup.com/jpids/advance-article/doi/10.1093/j
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http://dx.doi.org/10.1093/jpids/piz009DOI Listing
March 2019

Nusinersen for SMA: expanded access programme.

J Neurol Neurosurg Psychiatry 2018 09 16;89(9):937-942. Epub 2018 Mar 16.

Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1136/jnnp-2017-317412DOI Listing
September 2018

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

J Plast Reconstr Aesthet Surg 2018 07 6;71(7):1051-1057. Epub 2018 Mar 6.

Department of Neurology, Royal Children's Hospital, Flemington Road, Parkville, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.bjps.2018.02.013DOI Listing
July 2018

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

Semin Pediatr Neurol 2018 07 5;26:2-9. Epub 2017 Apr 5.

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

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http://dx.doi.org/10.1016/j.spen.2017.03.001DOI Listing
July 2018

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

Semin Pediatr Neurol 2018 07 1;26:52-55. Epub 2017 Apr 1.

Neurosciences Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.03.005DOI Listing
July 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

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

Gait Posture 2018 05 19;62:262-267. Epub 2018 Mar 19.

Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.gaitpost.2018.03.029DOI Listing
May 2018

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

Neurology 2018 05 6;90(19):e1706-e1710. Epub 2018 Apr 6.

From the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.

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http://dx.doi.org/10.1212/WNL.0000000000005479DOI Listing
May 2018

A multinational study on motor function in early-onset FSHD.

Neurology 2018 04 14;90(15):e1333-e1338. Epub 2018 Mar 14.

From the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000005297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5894929PMC
April 2018

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

Brain Behav 2018 04 21;8(4):e00919. Epub 2018 Feb 21.

Neurology Department The Royal Children's Hospital Melbourne Parkville Vic. Australia.

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http://dx.doi.org/10.1002/brb3.919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893341PMC
April 2018

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

Cell Rep 2018 01;22(5):1105-1114

Neural Circuit Development Laboratory, Institut de Recherches Cliniques de Montréal (IRCM), Montreal, QC, Canada; Integrated Program in Neuroscience, McGill University, Montreal, QC, Canada; Department of Anatomy and Cell Biology, Division of Experimental Medicine, McGill University, Montreal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.01.004DOI Listing
January 2018

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

J Paediatr Child Health 2017 12;53(12):1247-1248

Centre for Hormone Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.13692DOI Listing
December 2017

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

Neuromuscul Disord 2017 Jul 19;27(7):658-666. Epub 2017 Apr 19.

Murdoch Childrens Research Institute, Parkville, Victoria, Australia; The University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1016/j.nmd.2017.04.005DOI Listing
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

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

J Pediatr Rehabil Med 2016 ;9(1):55-63

Neurology Department, The Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://www.medra.org/servlet/aliasResolver?alias=iospress&am
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http://dx.doi.org/10.3233/PRM-160364DOI Listing
January 2017

Authors' Response to Commentary.

J Pediatr Rehabil Med 2016 ;9(1):77

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http://dx.doi.org/10.3233/PRM-160365DOI Listing
November 2016

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

Neurobiol Dis 2016 Oct 5;94:237-44. Epub 2016 Jul 5.

Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2016.07.001DOI Listing
October 2016

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

Mitochondrion 2016 09 27;30:162-7. Epub 2016 Jul 27.

Institute for Neuroscience and Muscle Research and T.Y. Nelson Department of Neurology & Neurosurgery, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, The Children's Hospital at Westmead Clinical School, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1016/j.mito.2016.07.014DOI Listing
September 2016

Fifty years of paediatric neurology in Australasia.

J Paediatr Child Health 2016 Sep;52(9):861-4

Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.13286DOI Listing
September 2016

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

Neuromuscul Disord 2016 07 25;26(7):462-71. Epub 2016 Apr 25.

Department of Neurology, Royal Children's Hospital, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia.

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http://dx.doi.org/10.1016/j.nmd.2016.03.007DOI Listing
July 2016

Describing nutrition in spinal muscular atrophy: A systematic review.

Neuromuscul Disord 2016 07 10;26(7):395-404. Epub 2016 May 10.

Department of Nutrition and Dietetics, School of Clinical Sciences, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia; Murdoch Childrens Research Institute, Melbourne, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.05.005DOI Listing
July 2016

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

J Paediatr Child Health 2016 Jun;52(6):669-71

Children's Neurosciences Centre, The Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.13200DOI Listing
June 2016

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

J Pediatr 2016 Mar 8;170:319-21. Epub 2016 Jan 8.

Children's Neurosciences Center, The Royal Children's Hospital, Melbourne, Victoria, Australia; Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1016/j.jpeds.2015.12.003DOI Listing
March 2016

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

J Paediatr Child Health 2016 Jan 10;52(1):40-6. Epub 2015 Sep 10.

Victorian Clinical Genetics Services, The Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.12993DOI Listing
January 2016

A diagnostic approach to recurrent myalgia and rhabdomyolysis in children.

Arch Dis Child 2015 Aug 29;100(8):793-7. Epub 2015 Jan 29.

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

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http://dx.doi.org/10.1136/archdischild-2014-307663DOI Listing
August 2015

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

Neurol Genet 2015 Aug 16;1(2):e16. Epub 2015 Jul 16.

Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., E.M.Y., J.C.H.S., M.B.D., P.J.L.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia; Bioinformatics Division (V.L., C.B., R.T., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia; Department of Neurology (M.M.R., E.M.Y., R.J.L.) and Department of Paediatrics (A.P.L.M., M.M.R., E.M.Y., M.B.D., D.J.A., R.J.L., P.J.L.), The University of Melbourne, Royal Children's Hospital, Parkville, Australia; Victorian Clinical Genetics Services (D.J.A., G.M.) and Neuroscience Research (M.M.R., R.J.L.), Murdoch Childrens Research Institute, Parkville, Australia; Department of Neurology (E.H.S.), UCSF Benioff Children's Hospital, San Francisco, CA; Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia; and Department of Mathematics and Statistics (M.B.) and Department of Medical Biology (R.T., M.B.), The University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807911PMC
August 2015

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

Mol Genet Genomic Med 2015 May 25;3(3):203-14. Epub 2015 Feb 25.

Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, EPE Porto, Portugal ; Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP Porto, Portugal.

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http://dx.doi.org/10.1002/mgg3.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444162PMC
May 2015

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

J Child Neurol 2015 Mar 23;30(3):357-63. Epub 2014 Apr 23.

Department of Nutrition and Dietetics, Monash University, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1177/0883073814530502DOI Listing
March 2015

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

Neurology 2015 Feb 9;84(6):569-74. Epub 2015 Jan 9.

From the Bruce Lefroy Centre for Genetic Health Research (E.M.Y., M.B.D.), Neurosciences Research (E.M.Y., K.C., K.d.V., R.K., M.M.R.), and Clinical Epidemiology and Biostatistics Unit (K.J.L.), Murdoch Childrens Research Institute; the Departments of Neurology (E.M.Y., K.C., K.d.V., R.K., M.M.R.) and Medical Imaging (C.R.B., P.R.), Royal Children's Hospital, Melbourne; the Department of Paediatrics (E.M.Y., K.J.L., P.R., M.B.D., M.M.R.), The University of Melbourne; and the Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001236DOI Listing
February 2015

Neuromuscular complications of intensive care.

Handb Clin Neurol 2013 ;113:1481-3

Children's Neuroscience Centre, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00017-4DOI Listing
March 2014

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

J Child Neurol 2014 Jan 29;29(1):43-8. Epub 2013 Jan 29.

1Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1177/0883073812471719DOI Listing
January 2014

Pediatric Guillain-Barré syndrome.

Authors:
Monique M Ryan

Curr Opin Pediatr 2013 Dec;25(6):689-93

Royal Children's Hospital, Parkville, Australia.

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http://dx.doi.org/10.1097/MOP.0b013e328365ad3fDOI Listing
December 2013

Juvenile Parkinsonism.

J Paediatr Child Health 2013 May 13;49(5):409-11. Epub 2012 Sep 13.

Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2012.02555.xDOI Listing
May 2013

Venlafaxine ingestion in a 4-year-old girl.

J Paediatr Child Health 2012 Nov;48(11):1047-8

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http://dx.doi.org/10.1111/j.1440-1754.2012.02600.xDOI Listing
November 2012

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

J Peripher Nerv Syst 2012 Sep;17(3):285-300

Children's Neuroscience Centre, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00412.xDOI Listing
September 2012

Auditory function in children with Charcot-Marie-Tooth disease.

Brain 2012 May 19;135(Pt 5):1412-22. Epub 2012 Apr 19.

Department of Audiology and Speech Pathology, The University of Melbourne, 550 Swanston Street, Parkville 3010, Australia.

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http://dx.doi.org/10.1093/brain/aws085DOI Listing
May 2012

Demyelinating prenatal and infantile developmental neuropathies.

J Peripher Nerv Syst 2012 Mar;17(1):32-52

Children's Neuroscience Centre, Royal Children's Hospital, Flemington Road, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00379.xDOI Listing
March 2012

Autoimmune myasthenia gravis, immunotherapy and thymectomy in children.

Neuromuscul Disord 2012 Feb 10;22(2):118-21. Epub 2011 Sep 10.

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

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http://dx.doi.org/10.1016/j.nmd.2011.08.007DOI Listing
February 2012

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

Neurology 2011 Dec 30;77(24):2115-8. Epub 2011 Nov 30.

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

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http://dx.doi.org/10.1212/WNL.0b013e31823d76aaDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235351PMC
December 2011

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

J Paediatr Child Health 2011 Aug 10;47(8):557-62. Epub 2011 Mar 10.

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

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http://dx.doi.org/10.1111/j.1440-1754.2011.02022.xDOI Listing
August 2011

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

Muscle Nerve 2011 Jul;44(1):135-41

Children's Neuroscience Centre, Royal Children's Hospital Melbourne, Flemington Road, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1002/mus.22076DOI Listing
July 2011

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

J Child Neurol 2011 Jun 22;26(6):761-6. Epub 2011 Feb 22.

Children's Neurosciences Centre, The Royal Children's Hospital Melbourne, Flemington Road, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1177/0883073810389042DOI Listing
June 2011

Pediatric sciatic neuropathy associated with neoplasms.

Muscle Nerve 2011 Feb;43(2):183-8

Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/mus.21867DOI Listing
February 2011

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

J Child Neurol 2010 Oct 12;25(10):1188-94. Epub 2010 Oct 12.

Discipline of Occupational Therapy, Faculty of Health Sciences, The University of Sydney, Sydney, Australia, Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia.

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http://jcn.sagepub.com/content/early/2010/03/24/088307380935
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http://jcn.sagepub.com/cgi/doi/10.1177/0883073809357624
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http://dx.doi.org/10.1177/0883073809357624DOI Listing
October 2010

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

Am J Med Genet A 2010 Sep;152A(9):2342-5

Genetic Health Services Victoria, and Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.33590DOI Listing
September 2010

Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric Charcot-Marie-Tooth disease type 1A.

Muscle Nerve 2010 Aug;42(2):262-7

Faculty of Health Sciences, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/mus.21685DOI Listing
August 2010

Atypical childhood chronic inflammatory demyelinating polyneuropathy.

Muscle Nerve 2010 Aug;42(2):293-5

Children's Neurosciences Centre, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1002/mus.21703DOI Listing
August 2010

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

J Child Neurol 2010 Mar 27;25(3):343-7. Epub 2009 Aug 27.

Discipline of Paediatrics and Child Health, Sydney Medical School, The University of Sydney, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1177/0883073809339877DOI Listing
March 2010

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

Phys Occup Ther Pediatr 2010 Feb;30(1):43-53

Faculty of Health Sciences, The University of Sydney, Lidcombe, NSW, Australia.

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http://dx.doi.org/10.3109/01942630903294687DOI Listing
February 2010

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

Ann Otol Rhinol Laryngol 2009 Nov;118(11):791-5

Department of Otolaryngology, Royal Children's Hospital and Murdoch Children's Research Institute, Melbourne, Australia.

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November 2009

Effect of oral curcumin on Déjérine-Sottas disease.

Pediatr Neurol 2009 Oct;41(4):305-8

Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney and Institute for Neuromuscular Research, Children's Hospital at Westmead, Sydney, New South Wales 2145, Australia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.04.030DOI Listing
October 2009

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

Histopathology 2009 Oct;55(4):452-62

Department of Anatomical Pathology, The Alfred Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1111/j.1365-2559.2009.03407.xDOI Listing
October 2009

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

Lancet Neurol 2009 Jun 6;8(6):537-44. Epub 2009 May 6.

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

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http://dx.doi.org/10.1016/S1474-4422(09)70108-5DOI Listing
June 2009

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

Pediatr Pulmonol 2009 Apr;44(4):410-4

Department of Respiratory Medicine, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ppul.20979DOI Listing
April 2009

Evolution of foot and ankle manifestations in children with CMT1A.

Muscle Nerve 2009 Feb;39(2):158-66

Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney/Institute for Neuromuscular Research, Children's Hospital at Westmead, Locked Bag 4001, Westmead, Sydney, NSW 2145 Australia.

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http://dx.doi.org/10.1002/mus.21140DOI Listing
February 2009

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

Neuromuscul Disord 2008 Dec 6;18(12):970-3. Epub 2008 Nov 6.

Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.nmd.2008.08.004DOI Listing
December 2008

Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations.

J Neuropathol Exp Neurol 2008 Nov;67(11):1097-102

Laboratoire de Neurologie, Centre de Référence des Neuropathies Périphériques Rares, CHU de Limoges, Limoges, France.

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http://dx.doi.org/10.1097/NEN.0b013e31818b6cbcDOI Listing
November 2008

Gaining consent for publication in difficult cases involving children.

BMJ 2008 Sep 8;337:a1231. Epub 2008 Sep 8.

Clinical Ethics Advisory Service, Children's Hospital at Westmead, Westmead, NSW 2145, Australia.

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http://dx.doi.org/10.1136/bmj.a1231DOI Listing
September 2008

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

J Peripher Nerv Syst 2008 Sep;13(3):236-41

Children's Neuroscience Centre, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1529-8027.2008.00182.xDOI Listing
September 2008

Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene.

Muscle Nerve 2008 Jul;38(1):930-2

Children's Neuroscience Centre, Royal Children's Hospital Melbourne, Flemington Road, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1002/mus.21013DOI Listing
July 2008

Dietary L-tyrosine supplementation in nemaline myopathy.

J Child Neurol 2008 Jun 13;23(6):609-13. Epub 2007 Dec 13.

Neurosciences Department, The Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1177/0883073807309794DOI Listing
June 2008

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

Muscle Nerve 2008 May;37(5):626-31

Discipline of Paediatrics and Child Health, University of Sydney, Sydney and Institute for Neuromuscular Research, Children's Hospital at Westmead, Locked Bag 4001, Westmead NSW 2145, Australia.

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http://dx.doi.org/10.1002/mus.20961DOI Listing
May 2008

Inherited myopathies and muscular dystrophies.

Semin Neurol 2008 Apr;28(2):250-9

Neurosciences Department, Royal Children's Hospital, Victoria, Australia.

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http://dx.doi.org/10.1055/s-2008-1062269DOI Listing
April 2008

Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation.

Pediatr Neurol 2008 Apr;38(4):293-5

Children's Neurosciences Centre, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.12.003DOI Listing
April 2008

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

Authors:
Monique M Ryan

Paediatr Respir Rev 2008 Mar 1;9(1):51-4; discussion 55-6. Epub 2008 Feb 1.

Neurosciences Department, Royal Children's Hospital and Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.prrv.2007.10.002DOI Listing
March 2008

Cognitive and psychological profile of males with Becker muscular dystrophy.

J Child Neurol 2008 Feb 3;23(2):155-62. Epub 2007 Dec 3.

Institute for Neuromuscular Research, The Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1177/0883073807307975DOI Listing
February 2008

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

Pediatr Neurol 2007 Nov;37(5):378-81

Children's Neurosciences Centre, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.05.020DOI Listing
November 2007