Sinéad M Murphy

Summary

Affiliation: University College London
Country: UK

Publications

  1. doi Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation
    Sinéad M Murphy
    Department of Molecular Neuroscience, UCL Institute of Neurology, MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK
    Neuromuscul Disord 21:223-6. 2011
  2. doi A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease
    Sinéad M Murphy
    MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK
    J Peripher Nerv Syst 16:65-70. 2011
  3. pmc Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease
    Sinéad M Murphy
    MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK
    J Peripher Nerv Syst 16:191-8. 2011
  4. doi A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2
    Alexander M Rossor
    MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK
    J Peripher Nerv Syst 17:201-5. 2012
  5. doi Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls
    Katherine A Fawcett
    MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK
    J Neurol Neurosurg Psychiatry 83:1204-9. 2012
  6. pmc Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2
    Sinéad M Murphy
    MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK
    Neurology 80:2106-11. 2013
  7. doi DNA testing in hereditary neuropathies
    Sinéad M Murphy
    MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK Department of Neurology, Adelaide and Meath Hospitals incorporating the National Children s Hospital, Tallaght, Dublin, and Trinity College Dublin, Ireland Electronic address
    Handb Clin Neurol 115:213-32. 2013
  8. pmc X inactivation in females with X-linked Charcot-Marie-Tooth disease
    Sinéad M Murphy
    MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    Neuromuscul Disord 22:617-21. 2012
  9. doi BAG3 mutations: another cause of giant axonal neuropathy
    Fatima Jaffer
    MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK
    J Peripher Nerv Syst 17:210-6. 2012
  10. pmc Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
    Sinéad M Murphy
    MRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK
    J Neurol Neurosurg Psychiatry 83:706-10. 2012

Collaborators

  • Shamima Rahman
  • John Winer
  • Thorsten Hornemann
  • Heinz Jungbluth
  • David N Herrmann
  • Fion Bremner
  • Mary M Reilly
  • Alexander M Rossor
  • Henry Houlden
  • Robert D S Pitceathly
  • Julian Blake
  • Katherine A Fawcett
  • Fatima Jaffer
  • James M Polke
  • Mariacristina Scoto
  • Amy Innes
  • Frances Flinter
  • Ese E Mudanohwo
  • Linda Greensmith
  • Cathy Woodward
  • Francesco Muntoni
  • Michael Rose
  • Michael G Hanna
  • Estelle Healy
  • Ros M Quinlivan
  • Michael P Lunn
  • Cheryl Longman
  • Janice L Holton
  • Simon Heales
  • Bernadett Kalmar
  • Anselm A Zdebik
  • Ellen Cottenie
  • Jacqueline Palace
  • John Land
  • Stephanie A Robb
  • Duygu Selcen
  • Selina Wray
  • Mary G Sweeney
  • Gabrielle L Davidson
  • Annapurna Chalasani
  • Michael Champion
  • Sebastian Brandner
  • Rupert Page
  • Carol Crowe
  • Iain Hargreaves
  • Hadi Manji
  • Victoria S Burchell
  • Rahul Phadke
  • Matilde Laura

Detail Information

Publications12

  1. doi Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation
    Sinéad M Murphy
    Department of Molecular Neuroscience, UCL Institute of Neurology, MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK
    Neuromuscul Disord 21:223-6. 2011
    ..Ile112Thr MPZ mutations. Involvement of the pupils, as in this case, may be a pointer towards a genetic rather than inflammatory cause of neuropathy...
  2. doi A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease
    Sinéad M Murphy
    MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK
    J Peripher Nerv Syst 16:65-70. 2011
    ..the normal sequence. It is likely that other mutations within the GJB1 non-coding regions account for the CMT1X families who do not have coding region mutations...
  3. pmc Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease
    Sinéad M Murphy
    MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK
    J Peripher Nerv Syst 16:191-8. 2011
    ..A longitudinal study is in progress to determine whether the CMTNS2 is more sensitive than the CMTNS for detecting change over time...
  4. doi A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2
    Alexander M Rossor
    MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK
    J Peripher Nerv Syst 17:201-5. 2012
    ..This case highlights the artificial distinction between patients with motor predominant forms of CMT2 and dHMN and argues against the hypothesis that mutations in the C-terminus have no sensory involvement...
  5. doi Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls
    Katherine A Fawcett
    MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK
    J Neurol Neurosurg Psychiatry 83:1204-9. 2012
    ..TRPV4 mutations have been identified in Charcot-Marie-Tooth type 2 (CMT2), scapuloperoneal spinal muscular atrophy and distal hereditary motor neuropathy (dHMN)...
  6. pmc Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2
    Sinéad M Murphy
    MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK
    Neurology 80:2106-11. 2013
    ..To describe the clinical and neurophysiologic phenotype of a family with hereditary sensory and autonomic neuropathy type 1 (HSANI) due to a novel mutation in SPTLC2 and to characterize the biochemical properties of this mutation...
  7. doi DNA testing in hereditary neuropathies
    Sinéad M Murphy
    MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK Department of Neurology, Adelaide and Meath Hospitals incorporating the National Children s Hospital, Tallaght, Dublin, and Trinity College Dublin, Ireland Electronic address
    Handb Clin Neurol 115:213-32. 2013
    ....
  8. pmc X inactivation in females with X-linked Charcot-Marie-Tooth disease
    Sinéad M Murphy
    MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery and Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    Neuromuscul Disord 22:617-21. 2012
    ..A possible explanation for these findings is that the X inactivation pattern in Schwann cells rather than in blood may explain the variable phenotype in females with CMT1X...
  9. doi BAG3 mutations: another cause of giant axonal neuropathy
    Fatima Jaffer
    MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK
    J Peripher Nerv Syst 17:210-6. 2012
    ..This report confirms the association of giant axonal neuropathy with BAG3-associated myofibrillar myopathy, and highlights that neuropathy may be a significant feature...
  10. pmc Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
    Sinéad M Murphy
    MRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK
    J Neurol Neurosurg Psychiatry 83:706-10. 2012
    ..The aims of this study were to determine the frequency of different genes in a large cohort of patients with CMT and devise guidelines for genetic testing in practice...
  11. pmc Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease
    Robert D S Pitceathly
    From the MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK
    Neurology 79:1145-54. 2012
    ..This led us to hypothesize that mutations in the 2 mtDNA complex V subunit encoding genes, MT-ATP6 and MT-ATP8, might be an unrecognized cause of isolated axonal CMT and distal hereditary motor neuropathy (dHMN)...
  12. doi Charcot-Marie-Tooth disease
    Mary M Reilly
    MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK
    J Peripher Nerv Syst 16:1-14. 2011
    ..This has made obtaining an accurate genetic diagnosis possible but at times challenging for clinicians. This review aims to provide a simple, pragmatic approach to diagnosing CMT from a clinician's perspective...