Research Topics
Species | M M ReillySummaryAffiliation: University College London Country: UK Publications
| Collaborators
|
Detail Information
Publications
Genetic neuromuscular diseaseMary 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- Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndromeBarbara 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... 
Charcot-Marie-Tooth diseaseMary 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...- Diagnosis and new treatments in genetic neuropathiesM 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... 
Sorting out the inherited neuropathiesMary 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- Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutationsJ 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... - CSF protein biomarkers for proximal axonal damage improve prognostic accuracy in the acute phase of Guillain-Barré syndromeA 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... - CSF neurofilament levels: a potential prognostic marker in Guillain-Barré syndromeA 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... - Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2H 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.... - Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathyH 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... - New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathyHenry 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... - A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4HHenry 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... - The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathyHenry 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.... - Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth diseaseHenry 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... - Clinical and genetic characterization of families with triple A (Allgrove) syndromeHenry 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... - Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunctionHenry 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... - Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth diseaseM-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... - Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) geneMing 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... - Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelinH 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... - Chronic inflammatory demyelinating polyradiculoneuropathy: MRI study of brain and spinal cordM 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... - 136th ENMC International Workshop: Charcot-Marie-Tooth disease type 1A (CMT1A)8-10 April 2005, Naarden, The NetherlandsM 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 - Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting!Mary M Reilly
Neurology 65:186-7. 2005 - 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.... - A novel RAB7 mutation associated with ulcero-mutilating neuropathyHenry 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... - Hereditary sensory neuropathiesHenry Houlden
Curr Opin Neurol 17:569-77. 2004.... - Microvasculitic paraproteinaemic polyneuropathy and B-cell lymphomaMartin 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...