Publications by authors named "John Christodoulou"

96Publications

Full-length TDP-43 and its C-terminal domain form filaments having non-amyloid properties.

Amyloid 2020 Oct 7:1-10. Epub 2020 Oct 7.

Section of Biochemistry, Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1080/13506129.2020.1826425DOI Listing
October 2020

Reply: Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

Brain 2020 Oct;143(10):e84

Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1093/brain/awaa257DOI Listing
October 2020

The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment.

Genet Med 2020 Aug 25. Epub 2020 Aug 25.

Australian Genomics Health Alliance, Melbourne, Australia.

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http://dx.doi.org/10.1038/s41436-020-00949-2DOI Listing
August 2020

NMR Lineshape Analysis of Intrinsically Disordered Protein Interactions.

Methods Mol Biol 2020 ;2141:477-504

Institute of Structural and Molecular Biology, UCL and Birkbeck College, London, UK.

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http://dx.doi.org/10.1007/978-1-0716-0524-0_24DOI Listing
January 2020

How Does the Ribosome Fold the Proteome?

Annu Rev Biochem 2020 06;89:389-415

Institute of Structural and Molecular Biology, University College London and Birkbeck College, London WC1E 7HX, United Kingdom; email:

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http://dx.doi.org/10.1146/annurev-biochem-062917-012226DOI Listing
June 2020

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants.

J Vis Exp 2020 05 22(159). Epub 2020 May 22.

Institute of Medical Genetics, Center for Pathobiochemistry and Genetics, Medical University of Vienna (MUV).

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http://dx.doi.org/10.3791/61054DOI Listing
May 2020

Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.

Brain 2020 Jul;143(7):e55

Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1093/brain/awaa131DOI Listing
July 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

Parental health spillover effects of paediatric rare genetic conditions.

Qual Life Res 2020 Sep 7;29(9):2445-2454. Epub 2020 Apr 7.

Centre for Health Policy, University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1007/s11136-020-02497-3DOI Listing
September 2020

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.

Am J Hum Genet 2020 04 19;106(4):559-569. Epub 2020 Mar 19.

Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Services, Parkville, Victoria 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118692PMC
April 2020

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

Mol Genet Metab 2020 05 10;130(1):49-57. Epub 2020 Feb 10.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303973PMC
May 2020

Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.

Brain 2020 04;143(4):e30

Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1093/brain/awaa047DOI Listing
April 2020

TRAPPing a neurological disorder: from yeast to humans.

Autophagy 2020 05 6;16(5):965-966. Epub 2020 Mar 6.

Department of Biochemistry and Molecular Genetics, College of Medicine, University of Illinois at Chicago, Chicago, IL, USA.

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http://dx.doi.org/10.1080/15548627.2020.1736873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7144875PMC
May 2020

Clinical genomic testing: what matters to key stakeholders?

Eur J Hum Genet 2020 07 5;28(7):866-873. Epub 2020 Feb 5.

Australian Genomics, Murdoch Childrens Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/s41431-020-0576-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316813PMC
July 2020

Two-dimensional NMR lineshape analysis of single, multiple, zero and double quantum correlation experiments.

J Biomol NMR 2020 Jan 8;74(1):95-109. Epub 2020 Jan 8.

Institute of Structural and Molecular Biology, University College London and Birkbeck College, London, UK.

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http://dx.doi.org/10.1007/s10858-019-00297-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015968PMC
January 2020

Whole exome sequencing reveals a de novo missense variant in in a Rett syndrome-like patient.

Clin Case Rep 2019 Dec 12;7(12):2476-2482. Epub 2019 Nov 12.

Brain and Mitochondrial Research Group Murdoch Children's Research Institute Parkville Vic. Australia.

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http://dx.doi.org/10.1002/ccr3.2511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935606PMC
December 2019

The effect of emerging nutraceutical interventions for clinical and biological outcomes in multiple sclerosis: A systematic review.

Mult Scler Relat Disord 2020 Jan 2;37:101486. Epub 2019 Nov 2.

Murdoch Children's Research Institute, Royal Children's Hospital, Australia; National Centre for Epidemiology and Population Health, Research School of Population Health, The Australian National University, Canberra, Australia.

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http://dx.doi.org/10.1016/j.msard.2019.101486DOI Listing
January 2020

Probing the dynamic stalk region of the ribosome using solution NMR.

Sci Rep 2019 09 19;9(1):13528. Epub 2019 Sep 19.

Institute of Structural and Molecular Biology, UCL and Birkbeck College London, Gower Street, London, WC1E 6BT, UK.

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http://dx.doi.org/10.1038/s41598-019-49190-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6753160PMC
September 2019

Binding of Monovalent and Bivalent Ligands by Transthyretin Causes Different Short- and Long-Distance Conformational Changes.

J Med Chem 2019 09 22;62(17):8274-8283. Epub 2019 Aug 22.

Wolfson Drug Discovery Unit, Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine , University College London , London NW3 2PF , U.K.

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http://dx.doi.org/10.1021/acs.jmedchem.9b01037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6863598PMC
September 2019

Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets.

Hum Mutat 2019 12 23;40(12):2184-2196. Epub 2019 Aug 23.

Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/humu.23887DOI Listing
December 2019

Nature and Regulation of Protein Folding on the Ribosome.

Trends Biochem Sci 2019 11 10;44(11):914-926. Epub 2019 Jul 10.

Institute of Structural and Molecular Biology, University College London and Birkbeck College, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.tibs.2019.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7471843PMC
November 2019

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

Am J Hum Genet 2019 07;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

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon.

Genet Med 2019 12 7;21(12):2823-2826. Epub 2019 Jun 7.

Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1038/s41436-019-0568-0DOI Listing
December 2019

Cross-Peaks in Simple Two-Dimensional NMR Experiments from Chemical Exchange of Transverse Magnetisation.

Angew Chem Int Ed Engl 2019 06 24;58(26):8784-8788. Epub 2019 May 24.

Institute of Structural and Molecular Biology, University College London, Gower Street, London, WC1E 6BT, UK.

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http://doi.wiley.com/10.1002/anie.201903245
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http://dx.doi.org/10.1002/anie.201903245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771647PMC
June 2019

Biallelic variants in and cause deafness and (ovario)leukodystrophy.

Neurology 2019 03 8;92(11):e1225-e1237. Epub 2019 Feb 8.

From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000007098DOI Listing
March 2019

Disorders of riboflavin metabolism.

J Inherit Metab Dis 2019 07 11;42(4):608-619. Epub 2019 Mar 11.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://doi.wiley.com/10.1002/jimd.12058
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http://dx.doi.org/10.1002/jimd.12058DOI Listing
July 2019

Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.

Neurology 2019 01;92(2):94-97

From the Movement Disorders Unit (H.M.-B., F.C., N.W., V.S.C.F.) and Epilepsy Unit (C.W.), Neurology Department, and Department of Clinical Genetics (A.M., S.A.S.), Westmead Hospital, Australia; Center for Applied Genomics (R.P.d.S., H.H., Y.G.), Children's Hospital of Philadelphia, PA; Discipline of Paediatrics and Child Health (S.A.S.) and Sydney Medical School (H.M.-B., F.C., V.S.C.F.), University of Sydney; Murdoch Children's Research Institute (J.C.), Melbourne; Department of Paediatrics (J.C.), Melbourne Medical School, University of Melbourne; Sunshine Coast Mind and Neuroscience (J.L.), Thompson Institute, University of the Sunshine Coast, Sippy Downs; and Department of Neurology (P.G.-S.), Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000006744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340345PMC
January 2019

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.

Mol Genet Metab 2019 01 11;126(1):77-82. Epub 2018 Dec 11.

Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.12.002DOI Listing
January 2019

A simple and efficient toolset for analysing mitochondrial trafficking in neuronal cells.

Acta Histochem 2018 Nov 14;120(8):797-805. Epub 2018 Sep 14.

Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Australia; Molecular Neurobiology Research Lab, Kids Research, Sydney Children's Hospitals Network, Westmead, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00651281183005
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http://dx.doi.org/10.1016/j.acthis.2018.09.001DOI Listing
November 2018

Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population.

J Pediatr 2018 09 23;200:188-195.e1. Epub 2018 Jun 23.

Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.04.050DOI Listing
September 2018

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Seizure 2018 Jul 28;59:132-140. Epub 2018 May 28.

Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Child & Adolescent Health; Discipline of Genetic Medicine, The University of Sydney, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2018.05.005DOI Listing
July 2018

Rare disease: a national survey of paediatricians' experiences and needs.

BMJ Paediatr Open 2017 5;1(1):e000172. Epub 2017 Oct 5.

Australian Paediatric Surveillance Unit, Kids Research Institute, Westmead, New South Wales, Australia.

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http://dx.doi.org/10.1136/bmjpo-2017-000172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862166PMC
October 2017

Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing.

Mol Genet Metab 2018 03 2;123(3):382-387. Epub 2018 Feb 2.

Discipline of Child & Adolescent Health, University of Sydney, Sydney, NSW, Australia; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia; Neurodevelopmental Genomics Research Group, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.01.007DOI Listing
March 2018

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Mitochondrion 2019 01 4;44:58-64. Epub 2018 Jan 4.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA.

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http://dx.doi.org/10.1016/j.mito.2018.01.001DOI Listing
January 2019

Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities.

ACS Chem Neurosci 2018 02 15;9(2):167-176. Epub 2017 Dec 15.

Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead , Sydney, NSW 2145, Australia.

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http://pubs.acs.org/doi/10.1021/acschemneuro.7b00346
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http://dx.doi.org/10.1021/acschemneuro.7b00346DOI Listing
February 2018

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

Eur J Hum Genet 2017 10 26;25(10):1134-1141. Epub 2017 Jul 26.

Discipline of Paediatrics &Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.1038/ejhg.2017.119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602020PMC
October 2017

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

PLoS One 2017 8;12(6):e0178125. Epub 2017 Jun 8.

Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0178125PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464557PMC
September 2017

The ribosome and its role in protein folding: looking through a magnifying glass.

Acta Crystallogr D Struct Biol 2017 Jun 31;73(Pt 6):509-521. Epub 2017 May 31.

Institute of Structural and Molecular Biology, Birkbeck College, Malet Street, London WC1E 7HX, England.

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http://scripts.iucr.org/cgi-bin/paper?S2059798317007446
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http://dx.doi.org/10.1107/S2059798317007446DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458493PMC
June 2017

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

Am J Med Genet A 2017 Aug 2;173(8):2246-2250. Epub 2017 Jun 2.

Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38292DOI Listing
August 2017

RettBASE: Rett syndrome database update.

Hum Mutat 2017 08 9;38(8):922-931. Epub 2017 Jun 9.

NSW Centre for Rett Syndrome Research, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1002/humu.23263DOI Listing
August 2017

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Orphanet J Rare Dis 2017 04 11;12(1):68. Epub 2017 Apr 11.

Australian Paediatric Surveillance Unit, Kids Research Institute, Westmead, NSW, 2145, Australia.

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http://dx.doi.org/10.1186/s13023-017-0622-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5387276PMC
April 2017

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

J Inherit Metab Dis 2017 03 19;40(2):261-269. Epub 2016 Dec 19.

Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, KRI, Level 3, Locked Bag 4001, Westmead, NSW, 2145, Australia.

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http://dx.doi.org/10.1007/s10545-016-0010-6DOI Listing
March 2017

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.

Neurology 2016 Nov 21;87(21):2206-2213. Epub 2016 Oct 21.

From Telethon Kids Institute (S.F., K.W., N.d.K., J.D., H.L.) and the School of Paediatrics and Child Health (D.F.), The University of Western Australia, Perth; Muir Maxwell Epilepsy Centre (R.C.), Child Life and Health, The University of Edinburgh, UK; Department of Neurology and Rehabilitation (S.W.), Princess Margaret Hospital, Perth; Western Sydney Genetics Program (R.K.), The Children's Hospital at Westmead, Sydney; Department of Paediatrics (J.C.), University of Melbourne; Murdoch Childrens Research Institute (J.C.), The Royal Children's Hospital, Melbourne; and School of Physiotherapy and Exercise Science (J.D.), Curtin University, Perth, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003352DOI Listing
November 2016

Functional abilities in children and adults with the CDKL5 disorder.

Am J Med Genet A 2016 11 16;170(11):2860-2869. Epub 2016 Aug 16.

Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37851DOI Listing
November 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

A strategy for co-translational folding studies of ribosome-bound nascent chain complexes using NMR spectroscopy.

Nat Protoc 2016 08 28;11(8):1492-507. Epub 2016 Jul 28.

Institute of Structural and Molecular Biology, University College London and Birkbeck College, University of London, London, UK.

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http://dx.doi.org/10.1038/nprot.2016.101DOI Listing
August 2016

Two-Dimensional NMR Lineshape Analysis.

Sci Rep 2016 04 25;6:24826. Epub 2016 Apr 25.

Institute of Structural and Molecular Biology, University College London and Birkbeck College, London WC1E 6BT, UK.

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http://dx.doi.org/10.1038/srep24826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4843008PMC
April 2016

Structural characterization of the interaction of α-synuclein nascent chains with the ribosomal surface and trigger factor.

Proc Natl Acad Sci U S A 2016 May 18;113(18):5012-7. Epub 2016 Apr 18.

Institute of Structural and Molecular Biology, University College London, London WC1E 6BT, United Kingdom; Institute of Structural and Molecular Biology, Birkbeck College, University of London, London WC1E 7HX, United Kingdom;

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http://dx.doi.org/10.1073/pnas.1519124113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983817PMC
May 2016

Phenylketonuria: a review of current and future treatments.

Transl Pediatr 2015 Oct;4(4):304-17

1 Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, Australia ; 2 Genetic Metabolic Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia ; 3 Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.3978/j.issn.2224-4336.2015.10.07DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728993PMC
October 2015