Exome sequencing in paediatric patients with movement disorders

[1]  Marco Piñón,et al.  I Overview , 2020, The Diaries and Letters of Lord Woolton 1940-1945.

[2]  E. Bertini,et al.  Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study , 2019, Front. Genet..

[3]  Zihan Wei,et al.  Treatment of myoclonic-atonic epilepsy caused by SLC2A1 de novo mutation with ketogenic diet , 2019, Medicine.

[4]  J. Pilch,et al.  Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes , 2019, neurogenetics.

[5]  H. Koch,et al.  The glucose transporter type 1 (Glut1) syndromes , 2019, Epilepsy & Behavior.

[6]  K. Kwong,et al.  Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy , 2018, Epilepsia open.

[7]  N. Drouot,et al.  Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders , 2018, JAMA neurology.

[8]  R. Cohn,et al.  Genetic landscape of pediatric movement disorders and management implications , 2018, Neurology: Genetics.

[9]  I. Skogseid,et al.  Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation , 2018, Journal of Neurodevelopmental Disorders.

[10]  D. Chitayat,et al.  Rationale for dopa‐responsive CTNNB1/ß‐catenin deficient dystonia , 2018, Movement disorders : official journal of the Movement Disorder Society.

[11]  B. Garavaglia,et al.  The relevance of gene panels in movement disorders diagnosis: A lab perspective. , 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[12]  H. Wulff,et al.  Targeting potassium channels to treat cerebellar ataxia , 2018, Annals of clinical and translational neurology.

[13]  I. Mihalek,et al.  Molecular map of GNAO1-related disease phenotypes and reactions to therapy , 2017 .

[14]  W. Poewe,et al.  Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing , 2017, neurogenetics.

[15]  Michael Seleman,et al.  Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies , 2017, Front. Immunol..

[16]  R. Sinke,et al.  Using the shared genetics of dystonia and ataxia to unravel their pathogenesis , 2017, Neuroscience & Biobehavioral Reviews.

[17]  N. Mahant,et al.  GNAO1 encephalopathy , 2017, Neurology: Genetics.

[18]  D. Cohen,et al.  Publisher's Note , 2017, Neuroscience & Biobehavioral Reviews.

[19]  R. Schüle,et al.  Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways , 2017, Movement disorders : official journal of the Movement Disorder Society.

[20]  V. Fung,et al.  A post hoc study on gene panel analysis for the diagnosis of dystonia , 2017, Movement disorders : official journal of the Movement Disorder Society.

[21]  M. Tijssen,et al.  Dystonia‐deafness syndrome caused by a β‐actin gene mutation and response to deep brain stimulation , 2017, Movement disorders : official journal of the Movement Disorder Society.

[22]  Hagai Bergman,et al.  Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia , 2016, Nature Genetics.

[23]  W. Poewe,et al.  Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. , 2016, American journal of human genetics.

[24]  Bradley L Schlaggar,et al.  Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder. , 2016, Pediatric neurology.

[25]  L. Zou,et al.  Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation , 2016, Orphanet Journal of Rare Diseases.

[26]  J. Solowska,et al.  Hereditary spastic paraplegia SPG4: what is known and not known about the disease. , 2015, Brain : a journal of neurology.

[27]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[28]  S. Duarte,et al.  Parkinsonism and inborn errors of metabolism , 2014, Journal of Inherited Metabolic Disease.

[29]  Valter Tucci,et al.  Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. , 2014, The Journal of clinical investigation.

[30]  Christian Gilissen,et al.  A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases , 2013, Human mutation.

[31]  V. Ganesan Swaiman's Pediatric Neurology , 2012 .

[32]  Rena A. Godfrey,et al.  Neurotransmitter Abnormalities and Response to Supplementation in Spg11 Nih Public Access Author Manuscript , 2022 .

[33]  Mark Hallett,et al.  Definition and classification of hyperkinetic movements in childhood , 2010, Movement disorders : official journal of the Movement Disorder Society.

[34]  E. Huang,et al.  Multiple roles of β-catenin in controlling the neurogenic niche for midbrain dopamine neurons , 2009, Development.

[35]  M. Jiang,et al.  Molecular Mechanisms of Go Signaling , 2009, Neurosignals.

[36]  T. Voit,et al.  Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome. , 2004, Prostaglandins, leukotrienes, and essential fatty acids.

[37]  T. Sanger,et al.  93 – Movement Disorders: An Overview , 2017 .

[38]  T. Wieland,et al.  De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum , 2014, Human Genetics.

[39]  C. Goetz,et al.  Movement Disorders, Overview , 2003 .

[40]  N. Mahant,et al.  GNAO1 encephalopathy Broadening the phenotype and evaluating treatment and outcome , 2022 .