Maria Stamelou

Summary

Affiliation: University College London
Country: UK

Publications

  1. doi "Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK
    Mov Disord 28:1184-99. 2013
  2. doi Atypical parkinsonism: an update
    Maria Stamelou
    Sobell Department for Motor Neurosciences and Movement Disorders, UCL Institute of Neurology, Queen Square, London, UK
    Curr Opin Neurol 26:401-5. 2013
  3. pmc Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK
    Neurology 79:435-41. 2012
  4. doi Dystonia in corticobasal degeneration: a review of the literature on 404 pathologically proven cases
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, United Kingdom
    Mov Disord 27:696-702. 2012
  5. pmc ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia
    Una Marie Sheerin
    From the Department of Molecular Neuroscience U M S and Sobell Department of Motor Neuroscience and Movement Disorders M S, K P B, UCL Institute of Neurology, London, UK University of Kiel S A S, G D, F H, Movement Disorders Clinic, Germany Department of Paediatrics L C, Great Ormond Street Hospital, London, UK Second Department of Neurology M S, University of Athens, Greece and UCL Department of Molecular Neuroscience and UCL Genetics Institute N W W, University College London, UK
    Neurology 82:1065-7. 2014
  6. ncbi The phenotypic spectrum of DYT24 due to ANO3 mutations
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, University College London UCL Institute of Neurology, London, United Kingdom Neurology Clinic, Attiko Hospital, University of Athens, Greece
    Mov Disord 29:928-34. 2014
  7. doi Familial psychogenic movement disorders
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, United Kingdom Department of Neurology, University of Athens, Attiko Hospital, Athens, Greece Neurology Clinic, Philipps University, Marburg, Germany
    Mov Disord 28:1295-8. 2013
  8. doi Functional movement disorders are not uncommon in the elderly
    Amit Batla
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, United Kingdom
    Mov Disord 28:540-3. 2013
  9. ncbi Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes?
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, University College London UCL Institute of Neurology, London, United Kingdom
    Mov Disord 28:1325-9. 2013
  10. pmc Ataxia telangiectasia presenting as dopa-responsive cervical dystonia
    Gavin Charlesworth
    From the Department of Molecular Neuroscience G C, N W W, and Sobell Department of Motor Neuroscience and Movement Disorders M S, K P B, UCL Institute of Neurology, Queen Square, London, UK Neurology Centre and Research M D M, Kolhapur, India Department of Neurology S A S, University of Kiel, Germany Movement Disorders Clinic M S, Second Department of Neurology, Attiko Hospital, University of Athens, Greece and Neurology Clinic M S, Philipps University, Marburg, Germany
    Neurology 81:1148-51. 2013

Collaborators

Detail Information

Publications22

  1. doi "Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK
    Mov Disord 28:1184-99. 2013
    ..The correct identification of these patients has important clinical, therapeutic, and research implications. © 2013 Movement Disorder Society. ..
  2. doi Atypical parkinsonism: an update
    Maria Stamelou
    Sobell Department for Motor Neurosciences and Movement Disorders, UCL Institute of Neurology, Queen Square, London, UK
    Curr Opin Neurol 26:401-5. 2013
    ..This update discusses novel aspects on genetics, diagnosis, and treatments of atypical parkinsonism published over the past 2 years...
  3. pmc Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK
    Neurology 79:435-41. 2012
    ....
  4. doi Dystonia in corticobasal degeneration: a review of the literature on 404 pathologically proven cases
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, United Kingdom
    Mov Disord 27:696-702. 2012
    ..More accurate characterization of dystonia in corticobasal degeneration would be of importance for clinical diagnosis and development of treatment strategies...
  5. pmc ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia
    Una Marie Sheerin
    From the Department of Molecular Neuroscience U M S and Sobell Department of Motor Neuroscience and Movement Disorders M S, K P B, UCL Institute of Neurology, London, UK University of Kiel S A S, G D, F H, Movement Disorders Clinic, Germany Department of Paediatrics L C, Great Ormond Street Hospital, London, UK Second Department of Neurology M S, University of Athens, Greece and UCL Department of Molecular Neuroscience and UCL Genetics Institute N W W, University College London, UK
    Neurology 82:1065-7. 2014
    ..To determine the genetic etiology in 2 consanguineous families who presented a novel phenotype of autosomal recessive juvenile amyotrophic lateral sclerosis associated with generalized dystonia...
  6. ncbi The phenotypic spectrum of DYT24 due to ANO3 mutations
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, University College London UCL Institute of Neurology, London, United Kingdom Neurology Clinic, Attiko Hospital, University of Athens, Greece
    Mov Disord 29:928-34. 2014
    ..2014 The Authors. Movement Disorders published by International Parkinson and Movement Disorder Society. ..
  7. doi Familial psychogenic movement disorders
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, United Kingdom Department of Neurology, University of Athens, Attiko Hospital, Athens, Greece Neurology Clinic, Philipps University, Marburg, Germany
    Mov Disord 28:1295-8. 2013
    ..Despite the growing literature describing the clinical features and the natural history of sporadic cases with PMDs, their occurrence in familial clusters is not reported...
  8. doi Functional movement disorders are not uncommon in the elderly
    Amit Batla
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, United Kingdom
    Mov Disord 28:540-3. 2013
    ..The objective of this study was to highlight the clinical characteristics of FMD in the elderly and compared these with a cohort of patients with a younger age of onset...
  9. ncbi Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes?
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, University College London UCL Institute of Neurology, London, United Kingdom
    Mov Disord 28:1325-9. 2013
    ....
  10. pmc Ataxia telangiectasia presenting as dopa-responsive cervical dystonia
    Gavin Charlesworth
    From the Department of Molecular Neuroscience G C, N W W, and Sobell Department of Motor Neuroscience and Movement Disorders M S, K P B, UCL Institute of Neurology, Queen Square, London, UK Neurology Centre and Research M D M, Kolhapur, India Department of Neurology S A S, University of Kiel, Germany Movement Disorders Clinic M S, Second Department of Neurology, Attiko Hospital, University of Athens, Greece and Neurology Clinic M S, Philipps University, Marburg, Germany
    Neurology 81:1148-51. 2013
    ..To identify the cause of cervical dopa-responsive dystonia (DRD) in a Muslim Indian family inherited in an apparently autosomal recessive fashion, as previously described in this journal...
  11. doi Markedly asymmetric presentation in multiple system atrophy
    Amit Batla
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, United Kingdom
    Parkinsonism Relat Disord 19:901-5. 2013
    ..Marked asymmetry in atypical parkinsonism suggests alternative diagnosis like Corticobasal syndrome (CBS)...
  12. doi Psychogenic paroxysmal movement disorders--clinical features and diagnostic clues
    Christos Ganos
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK Department of Neurology, University Medical Center Hamburg Eppendorf UKE, Hamburg, Germany
    Parkinsonism Relat Disord 20:41-6. 2014
    ..The diagnosis of psychogenic paroxysmal movement disorders (PPMD) can be challenging, in particular their distinction from the primary paroxysmal dyskinesias (PxD) remains difficult...
  13. pmc The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician
    Davide Martino
    Neuroscience and Trauma Centre, Barts and the London School of Medicine and Dentistry, Queen Mary University London, London, UK
    J Neurol Neurosurg Psychiatry 84:650-6. 2013
    ..These red flags should be constantly updated as the phenotypic characterisation and identification of more reliable diagnostic markers for HD-like syndromes progress over the following years...
  14. pmc THAP1 mutations and dystonia phenotypes: genotype phenotype correlations
    Georgia Xiromerisiou
    Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology, London, London, United Kingdom Department of Neurology, Faculty of Medicine University of Thessaly, Larissa, Greece
    Mov Disord 27:1290-4. 2012
    ..Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various THAP1 mutations. © 2012 Movement Disorder Society...
  15. doi Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel
    Kin Y Mok
    Department of Molecular Neuroscience, University College London UCL Institute of Neurology, London, United Kingdom
    Mov Disord 29:245-51. 2014
    ..Dysfunction of this ion channel is a plausible cause for dystonia. Further replication in another cohort is needed to confirm this finding. We make this data publicly available to encourage further analyses of this disorder...
  16. doi Patients with rest-tremor and scans with ipsilateral dopaminergic deficit
    Maria Aguirregomozcorta
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK
    J Neurol 260:1132-5. 2013
    ..This is speculative but there is no doubt that these cases exist and we encourage others to report similar cases, as this may assist in the better understanding of the yet unknown pathophysiology of rest-tremor...
  17. doi Psychogenic palatal tremor may be underrecognized: reappraisal of a large series of cases
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, University College London UCL Institute of Neurology, London, United Kingdom
    Mov Disord 27:1164-8. 2012
    ..Some patients can have palatal movements as a special skill or due to palatal tics. Psychogenic palatal tremor is recognized but rarely reported in the literature...
  18. pmc Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis
    Gavin Charlesworth
    Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Am J Hum Genet 91:1041-50. 2012
    ..The locus DYT23 has been reserved as a synonym for this gene. The implication of an ion channel in the pathogenesis of dystonia provides insights into an alternative mechanism that opens fresh avenues for further research...
  19. pmc Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, United Kingdom
    Mov Disord 27:1317-22. 2012
    ..Mutations in the SLC30A10 gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia...
  20. pmc The non-motor syndrome of primary dystonia: clinical and pathophysiological implications
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology Queen Square, London, WC1N 3BG UK
    Brain 135:1668-81. 2012
    ..Here, we review this evidence and discuss its clinical and pathophysiological implications...
  21. doi The distinct movement disorder in anti-NMDA receptor encephalitis may be related to Status Dissociatus: a hypothesis
    Maria Stamelou
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, United Kingdom
    Mov Disord 27:1360-3. 2012
    ....
  22. ncbi Treatment of focal dystonia
    Amit Batla
    The National Hospital for Neurology and Neurosurgery Queen Square, Box 13, London, WC1N 3BG, UK
    Curr Treat Options Neurol 14:213-29. 2012
    ..Patient education and directing the patients towards dystonia support groups and relevant websites that provide scientific information may be useful for long-term compliance and benefit...