| Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing SM Murphy, M Laura, K Fawcett, A Pandraud, YT Liu, GL Davidson, ... Journal of Neurology, Neurosurgery & Psychiatry 83 (7), 706-710, 2012 | 398 | 2012 |
| Charcot‐Marie‐tooth disease MM Reilly, SM Murphy, M Laurá Journal of the peripheral nervous system 16 (1), 1-14, 2011 | 351 | 2011 |
| Reliability of the CMT neuropathy score (second version) in Charcot‐Marie‐Tooth disease SM Murphy, DN Herrmann, MP McDermott, SS Scherer, ME Shy, ... Journal of the peripheral nervous system 16 (3), 191-198, 2011 | 346 | 2011 |
| Transcriptional regulator PRDM12 is essential for human pain perception YC Chen, M Auer-Grumbach, S Matsukawa, M Zitzelsberger, ... Nature genetics 47 (7), 803-808, 2015 | 177 | 2015 |
| Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease RDS Pitceathly, SM Murphy, E Cottenie, A Chalasani, MG Sweeney, ... Neurology 79 (11), 1145-1154, 2012 | 127 | 2012 |
| Cerebrovascular disease SM Murphy, TJ Counihan Essentials of Medicine, 2010 | 112* | 2010 |
| Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort GL Davidson, SM Murphy, JM Polke, M Laura, MAM Salih, F Muntoni, ... Journal of neurology 259, 1673-1685, 2012 | 104 | 2012 |
| Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2 AM Rossor, EC Oates, HK Salter, Y Liu, SM Murphy, R Schule, ... Brain 138 (2), 293-310, 2015 | 103 | 2015 |
| A novel locus for episodic ataxia: UBR4 the likely candidate J Conroy, P McGettigan, R Murphy, D Webb, SM Murphy, B McCoy, ... European Journal of Human Genetics 22 (4), 505-510, 2014 | 84 | 2014 |
| BAG3 mutations: another cause of giant axonal neuropathy F Jaffer, SM Murphy, M Scoto, E Healy, AM Rossor, S Brandner, ... Journal of the Peripheral Nervous System 17 (2), 210-216, 2012 | 80 | 2012 |
| Psychometrics evaluation of Charcot‐Marie‐tooth neuropathy score (CMTNSv2) second version, using Rasch analysis R Sadjadi, MM Reilly, ME Shy, D Pareyson, M Laura, S Murphy, ... Journal of the peripheral nervous system 19 (3), 192-196, 2014 | 72 | 2014 |
| Phenotype expression in women with CMT1X CE Siskind, SM Murphy, R Ovens, J Polke, MM Reilly, ME Shy Journal of the peripheral nervous system 16 (2), 102-107, 2011 | 68 | 2011 |
| Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence S Murphy, G Gorman, C Beetz, P Byrne, M Dytko, P McMonagle, ... Neurology 73 (5), 378-384, 2009 | 68 | 2009 |
| Mutation in FAM134B causing severe hereditary sensory neuropathy SM Murphy, GL Davidson, S Brandner, H Houlden, MM Reilly Journal of Neurology, Neurosurgery & Psychiatry 83 (1), 119-120, 2012 | 61 | 2012 |
| Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2 SM Murphy, D Ernst, Y Wei, M Laurà, YT Liu, J Polke, J Blake, J Winer, ... Neurology 80 (23), 2106-2111, 2013 | 56 | 2013 |
| Unintended effects of orphan product designation for rare neurological diseases SM Murphy, A Puwanant, RC Griggs, ... Annals of neurology 72 (4), 481-490, 2012 | 46 | 2012 |
| Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland B Bansagi, T Antoniadi, S Burton-Jones, SM Murphy, J McHugh, ... Journal of neurology 262, 1899-1908, 2015 | 41 | 2015 |
| A pilot study of proximal strength training in Charcot‐Marie‐Tooth disease GM Ramdharry, A Pollard, C Anderson, M Laurá, SM Murphy, M Dudziec, ... Journal of the peripheral Nervous System 19 (4), 328-332, 2014 | 41 | 2014 |
| Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity D Ernst, SM Murphy, K Sathiyanadan, Y Wei, A Othman, M Laurá, YT Liu, ... Neuromolecular medicine 17, 47-57, 2015 | 37 | 2015 |
| X inactivation in females with X-linked Charcot–Marie–Tooth disease SM Murphy, R Ovens, J Polke, CE Siskind, M Laurà, K Bull, G Ramdharry, ... Neuromuscular Disorders 22 (7), 617-621, 2012 | 36 | 2012 |
Gabrielle DavidsonUniversity of East AngliaVerified email at uea.ac.uk
