Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system

[1]  K. Davies,et al.  Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers , 2015, Nature Medicine.

[2]  Michael Bach,et al.  ISCEV Standard for full-field clinical electroretinography (2015 update) , 2014, Documenta Ophthalmologica.

[3]  R. Roxburgh,et al.  Ophthalmic manifestations of inherited neurodegenerative disorders , 2014, Nature Reviews Neurology.

[4]  P. Fort,et al.  Slight Alteration of the Electroretinogram in Mice Lacking Dystrophin Dp71 , 2014, Ophthalmic Research.

[5]  H. Jick,et al.  Prevalence and incidence rates of autism in the UK: time trend from 2004–2010 in children aged 8 years , 2013, BMJ Open.

[6]  N. Bresolin,et al.  Specific profiles of neurocognitive and reading functions in a sample of 42 Italian boys with Duchenne Muscular Dystrophy , 2013, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

[7]  E. Bertini,et al.  Early neurodevelopmental assessment in Duchenne muscular dystrophy , 2013, Neuromuscular Disorders.

[8]  J. Kremers,et al.  ON and OFF electroretinography and contrast sensitivity in Duchenne muscular dystrophy. , 2013, Investigative ophthalmology & visual science.

[9]  V. Ricotti,et al.  Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy , 2012, Journal of Neurology, Neurosurgery & Psychiatry.

[10]  E. Bertini,et al.  Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation. , 2012, The Journal of pediatrics.

[11]  R. Tadayoni,et al.  Dystrophin Dp71: The Smallest but Multifunctional Product of the Duchenne Muscular Dystrophy Gene , 2011, Molecular Neurobiology.

[12]  K. Bushby,et al.  Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings. , 2011, Clinical investigation.

[13]  J. Sahel,et al.  Reevaluation of dystrophin localization in the mouse retina. , 2011, Investigative ophthalmology & visual science.

[14]  J. Billard,et al.  Rescue of a dystrophin-like protein by exon skipping normalizes synaptic plasticity in the hippocampus of the mdx mouse , 2011, Neurobiology of Disease.

[15]  J. Bourke,et al.  Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study , 2011, The Lancet.

[16]  G. van Ommen,et al.  Systemic administration of PRO051 in Duchenne's muscular dystrophy. , 2011, The New England journal of medicine.

[17]  R. Kleta,et al.  Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome , 2011, The Journal of physiology.

[18]  V. Ricotti,et al.  Dystrophin and the brain , 2011, Developmental medicine and child neurology.

[19]  S. Winder,et al.  Dystrophin: more than just the sum of its parts. , 2010, Biochimica et biophysica acta.

[20]  Craig McDonald,et al.  Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care , 2010, The Lancet Neurology.

[21]  R. Finkel,et al.  Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management , 2010, The Lancet Neurology.

[22]  F. Rivier,et al.  Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. , 2009, Human molecular genetics.

[23]  K. Puura,et al.  The construction and validation of a short form of the developmental, diagnostic and dimensional interview , 2009, European Child & Adolescent Psychiatry.

[24]  D. Skuse,et al.  Social communication competence and functional adaptation in a general population of children: preliminary evidence for sex-by-verbal IQ differential risk. , 2009, Journal of the American Academy of Child and Adolescent Psychiatry.

[25]  M. Bach,et al.  ISCEV Standard for full-field clinical electroretinography (2008 update) , 2009, Documenta Ophthalmologica.

[26]  A. Frigeri,et al.  Dystrophin‐dependent and ‐independent AQP4 pools are expressed in the mouse brain , 2008, Glia.

[27]  M. Zatz,et al.  Red-green color vision impairment in Duchenne muscular dystrophy. , 2007, American journal of human genetics.

[28]  J. Ervasti.  Dystrophin, its interactions with other proteins, and implications for muscular dystrophy. , 2007, Biochimica et biophysica acta.

[29]  D. Skuse,et al.  Measuring autistic traits: heritability, reliability and validity of the Social and Communication Disorders Checklist , 2005, British Journal of Psychiatry.

[30]  Francesco Muntoni,et al.  Dystrophin and mutations: one gene, several proteins, multiple phenotypes , 2003, The Lancet Neurology.

[31]  J. Sahel,et al.  Targeted inactivation of dystrophin gene product Dp71: phenotypic impact in mouse retina. , 2003, Human molecular genetics.

[32]  D. Pillers.  Dystrophin and the retina. , 1999, Molecular genetics and metabolism.

[33]  P. Ray,et al.  Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations , 1999, Human Genetics.

[34]  D. G. Green,et al.  Effects of dystrophin isoforms on signal transduction through neural retina: genotype-phenotype analysis of duchenne muscular dystrophy mouse mutants. , 1999, Molecular genetics and metabolism.

[35]  James D. A. Parker,et al.  The Revised Conners' Parent Rating Scale (CPRS-R): Factor Structure, Reliability, and Criterion Validity , 1998, Journal of abnormal child psychology.

[36]  J. Robson,et al.  Dissecting the dark-adapted electroretinogram , 1998, Documenta Ophthalmologica.

[37]  I. Nonaka,et al.  Dp260 disrupted mice revealed prolonged implicit time of the b-wave in ERG and loss of accumulation of beta-dystroglycan in the outer plexiform layer of the retina. , 1997, Human molecular genetics.

[38]  H. Ueda,et al.  Dystrophin in rod spherules; submembranous dense regions facing bipolar cell processes , 1997, Histochemistry and Cell Biology.

[39]  F. Rodius,et al.  Dystrophins in developing retina: Dp260 expression correlates with synaptic maturation , 1997, Neuroreport.

[40]  G. Danieli,et al.  Extra-muscle involvement in dystrophinopathies: an electroretinography and evoked potential study , 1997, Journal of the Neurological Sciences.

[41]  K. Aldape,et al.  Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy , 1995, Cell.

[42]  L. Kunkel,et al.  Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. , 1995, Human molecular genetics.

[43]  D. G. Green,et al.  mdx Cv3 Mouse Is a Model for Electroretinography of Duchenne/Becker Muscular Dystrophy , 1995 .

[44]  A. Kriss.  Skin ERGs: their effectiveness in paediatric visual assessment, confounding factors, and comparison with ERGs recorded using various types of corneal electrode. , 1994, International journal of psychophysiology : official journal of the International Organization of Psychophysiology.

[45]  R. Appleton,et al.  HEAD CIRCUMFERENCE AND INTELLECTUAL PERFORMANCE OF PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY , 1991, Developmental medicine and child neurology.

[46]  V. Ricotti,et al.  Long-term bene fi ts and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy , 2013 .

[47]  Juliet A. Ellis,et al.  International Workshop : Newborn screening for Duchenne muscular dystrophy 14 – 16 th December , 2012 , Naarden , The Netherlands , 2013 .

[48]  J. Morley,et al.  Brain function in Duchenne muscular dystrophy. , 2002, Brain : a journal of neurology.

[49]  D. Saklofske,et al.  The WISC-III in Context , 1998 .