M M Reilly

Summary

Affiliation: University College London
Country: UK

Publications

  1. pmc Genetic neuromuscular disease
    Mary M Reilly
    Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, Queen Square, UK
    J Neurol Neurosurg Psychiatry 73:II12-21. 2002
  2. pmc Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome
    Barbara Rohkamm
    Institute of Human Genetics, Medical University Graz, Austria
    J Neurol Sci 263:100-6. 2007
  3. pmc Hand weakness in Charcot-Marie-Tooth disease 1X
    P J Arthur-Farraj
    MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    Neuromuscul Disord 22:622-6. 2012
  4. doi request reprint 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
  5. doi request reprint Diagnosis and new treatments in genetic neuropathies
    M M Reilly
    National Hospital for Neurology and Neurosurgery and Institute of Neurology, Queen Square, London WC1N 3BG, UK
    J Neurol Neurosurg Psychiatry 80:1304-14. 2009
  6. ncbi request reprint Sorting out the inherited neuropathies
    Mary M Reilly
    Centre for Neuromuscular Disease and Department of Molecular Neurosciences, National Hospital for Neurology and Neurosurgery and Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Pract Neurol 7:93-105. 2007
  7. pmc Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations
    J M Polke
    Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK
    Neurology 77:168-73. 2011
  8. doi request reprint Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy
    H Houlden
    Department of Molecular Neurosciences, Neuro ophthalmology and MRC Centre for Neuromuscular diseases, The National Hospital for Neurology and Neurosurgery and The Institute of Neurology, Queen Square, London, UK
    Eye (Lond) 23:966-74. 2009
  9. doi request reprint Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2
    H Houlden
    Department of Molecular Neurosciences, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    Neurology 71:1660-8. 2008
  10. ncbi request reprint CSF neurofilament levels: a potential prognostic marker in Guillain-Barré syndrome
    A Petzold
    Department of Neuroimmunology, Institute of Neurology and Tavistock Intensive Care Unit, National Hospital for Neurology and Neurosurgery, London, UK
    Neurology 67:1071-3. 2006

Collaborators

Detail Information

Publications27

  1. pmc Genetic neuromuscular disease
    Mary M Reilly
    Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, Queen Square, UK
    J Neurol Neurosurg Psychiatry 73:II12-21. 2002
  2. pmc Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome
    Barbara Rohkamm
    Institute of Human Genetics, Medical University Graz, Austria
    J Neurol Sci 263:100-6. 2007
    ..Mutations in the heat-shock proteins HSPB1 and HSPB8 can cause related distal hereditary motor neuropathies (dHMN) and are considered candidates for dHMN-V, CMT2, and SS...
  3. pmc Hand weakness in Charcot-Marie-Tooth disease 1X
    P J Arthur-Farraj
    MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    Neuromuscul Disord 22:622-6. 2012
    ..Median nerve compound motor action potentials were significantly reduced in dominant compared to non-dominant hands. We conclude that the dominant hand is weaker than the non-dominant hand in patients with CMT1X...
  4. doi request reprint 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...
  5. doi request reprint Diagnosis and new treatments in genetic neuropathies
    M M Reilly
    National Hospital for Neurology and Neurosurgery and Institute of Neurology, Queen Square, London WC1N 3BG, UK
    J Neurol Neurosurg Psychiatry 80:1304-14. 2009
    ..The first therapeutic trials in CMT are currently underway. This review will suggest an approach to the diagnosis of these disorders and provide an update on new therapies...
  6. ncbi request reprint Sorting out the inherited neuropathies
    Mary M Reilly
    Centre for Neuromuscular Disease and Department of Molecular Neurosciences, National Hospital for Neurology and Neurosurgery and Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Pract Neurol 7:93-105. 2007
  7. pmc Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations
    J M Polke
    Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK
    Neurology 77:168-73. 2011
    ..We present 3 families with early-onset CMT2 associated with compound heterozygous MFN2 mutations. Transcriptional analysis was performed to investigate the effects of the mutations...
  8. doi request reprint Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy
    H Houlden
    Department of Molecular Neurosciences, Neuro ophthalmology and MRC Centre for Neuromuscular diseases, The National Hospital for Neurology and Neurosurgery and The Institute of Neurology, Queen Square, London, UK
    Eye (Lond) 23:966-74. 2009
    ..To investigate and correlate the frequency and types of pupil abnormalities that are associated with hereditary peripheral neuropathy in a large cohort of patients prospectively examined...
  9. doi request reprint Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2
    H Houlden
    Department of Molecular Neurosciences, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    Neurology 71:1660-8. 2008
    ....
  10. ncbi request reprint CSF neurofilament levels: a potential prognostic marker in Guillain-Barré syndrome
    A Petzold
    Department of Neuroimmunology, Institute of Neurology and Tavistock Intensive Care Unit, National Hospital for Neurology and Neurosurgery, London, UK
    Neurology 67:1071-3. 2006
    ..Pathologically high CSF NfH levels (>0.73 ng/mL) predicted worse motor and functional outcome...
  11. doi request reprint CSF protein biomarkers for proximal axonal damage improve prognostic accuracy in the acute phase of Guillain-Barré syndrome
    A Petzold
    Department of Neuroimmunology, Institute of Neurology and Tavistock Intensive Care Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, United Kingdom
    Muscle Nerve 40:42-9. 2009
    ..05 ng/ml). Except for age (P < 0.05) and need for ventilatory support (P < 0.05), none of the other features reliably predicted outcome. Improved prognostic accuracy in the acute phase of GBS seems possible using CSF NfH levels...
  12. pmc A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H
    Henry Houlden
    Institute of Neurology, Queen Square, London WC1N3BG, UK
    Neurology 72:617-20. 2009
    ..The locus responsible for CMT4H was assigned to chromosome 12p11.21-q13.11 by homozygosity mapping and mutations in the Frabin gene (FGD4 Rho GDP/GTP exchange factor) were subsequently identified in six families...
  13. pmc New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy
    Henry Houlden
    Department of Molecular Neuroscience, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
    J Neurol Neurosurg Psychiatry 78:1267-70. 2007
    ..We report some unusual clinical features associated with GAN and Gigaxonin mutations as well as confirm the heterogeneity in GAN and the identification of two families with manifesting carriers...
  14. doi request reprint The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy
    Henry Houlden
    Department of Molecular Neurosciences and The MRC Centre for Neuromuscular diseases, The National Hospital for Neurology and Neurosurgery, The Institute of Neurology, Queen Square, London, WC1N 3BG, England, UK
    Neuromuscul Disord 19:264-9. 2009
    ....
  15. ncbi request reprint Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease
    Henry Houlden
    Centre for Neuromuscular Disease and Department of Molecular Neurosciences, National Hospital for Neurology and Neurosurgery and Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Neuromolecular Med 8:43-62. 2006
    ..This review discusses what is known about these genes and in particular how they cause a peripheral neuropathy, when mutated...
  16. ncbi request reprint Clinical and genetic characterization of families with triple A (Allgrove) syndrome
    Henry Houlden
    Department of Clinical Neurology, Institute of Neurology, London, UK
    Brain 125:2681-90. 2002
    ..Identifying further mutations and defining their phenotype along with functional protein analysis will help to characterize this neuroendocrine gene...
  17. ncbi request reprint Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction
    Henry Houlden
    Department of Molecular Neurosciences, Institute of Neurology, Queen Square, London, UK
    Ann Neurol 56:730-4. 2004
    ..These data suggest that interaction between the Cx32 P2 promoter, SOX10, and EGR2 highlight a mechanism of peripheral nerve dysfunction...
  18. pmc Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease
    M J Lee
    Department of Molecular Pathogenesis, Institute of Neurology, Queen Square, London WC1N 3BG, UK
    J Neurol Neurosurg Psychiatry 73:304-6. 2002
    ..Affected members in these six families had typical signs of CMT but in some affected members of three families there was additional central nervous system involvement or deafness in the absence of any other explanation other than CMT...
  19. ncbi request reprint Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene
    Ming Jen Lee
    Division of Clinical Neurology and Department of Molecular Pathogenesis, Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Hum Mol Genet 12:1917-25. 2003
    ..This is the first report of a mutation in a molecular chaperonin causing a hereditary neuropathy and raises the possibility that mis-folding proteins may be a cause of this group of neuropathies...
  20. ncbi request reprint Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin
    H Houlden
    University Department of Clinical Neurology, Royal Free and University College Medical School, London, UK
    Brain 124:907-15. 2001
    ..Identifying further mutations and defining their phenotype will help to clarify the genetic classification of this group of disorders...
  21. ncbi request reprint Chronic inflammatory demyelinating polyradiculoneuropathy: MRI study of brain and spinal cord
    M Laura
    Centre for Neuromuscular Diseases and Department of Molecular Neurosciences, National Hospital for Neurology, London, UK
    Neurology 64:914-6. 2005
    ..No CNS demyelination was found, but the mean cervical cord area was significantly smaller in CIDP patients vs control subjects. Spinal cord atrophy may be related to degeneration secondary to axonal loss...
  22. ncbi request reprint 136th ENMC International Workshop: Charcot-Marie-Tooth disease type 1A (CMT1A)8-10 April 2005, Naarden, The Netherlands
    M M Reilly
    Centre for Neuromuscular Disease and Department of Molecular Neurosciences, Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK
    Neuromuscul Disord 16:396-402. 2006
  23. ncbi request reprint Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting!
    Mary M Reilly
    Neurology 65:186-7. 2005
  24. ncbi request reprint Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I)
    Henry Houlden
    Department of Molecular Neurosciences, The National Hospital for Neurology and Neurosurgery and The Institute of Neurology, London, UK
    Brain 129:411-25. 2006
    ....
  25. ncbi request reprint A novel RAB7 mutation associated with ulcero-mutilating neuropathy
    Henry Houlden
    University Department of Clinical Neurosciences, Royal Free Campus, Royal Free and University College Medical School, University College London, United Kingdom
    Ann Neurol 56:586-90. 2004
    ..The mutation is situated adjacent to a previously identified valine to methionine mutation at codon 162, implying a hotspot for mutations in the highly conserved C terminus of RAB7...
  26. ncbi request reprint Hereditary sensory neuropathies
    Henry Houlden
    Curr Opin Neurol 17:569-77. 2004
    ....
  27. ncbi request reprint Microvasculitic paraproteinaemic polyneuropathy and B-cell lymphoma
    Martin R Turner
    Department of Neurology, Institute of Psychiatry, King s College, De Crespigny Park, London SE5 8AF, UK
    J Peripher Nerv Syst 8:100-7. 2003
    ..A 2-stage pathogenic cascade is postulated and explored with a review of the relevant literature...