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Mary Reilly

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Petra Schwingenschuh; Maria Aguirregomozcorta; Kailash P Bhatia; Petra Katschnig-Winter; Michael P Lunn; Hadi Manji; Mary M Reilly; John C Rothwell; Tabish A Saifee; Reinhold Schmidt; Mark J Edwards
Cerebellar learning distinguishes inflammatory neuropathy with and without tremor.
Ellen Cottenie; David J Dick; Henry Houlden; Zane Jaunmuktane; Manoj P Menezes; Jasper M Morrow; Janice R Anderson; Julian C Blake; Sebastian Brandner; Alexander M Rossor; Tarek A Yousry; Mary M Reilly
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.
James C Stevens; Glenn Anderson; fion bremner; Indran Davagnanam; Paola Giunti; Sinéad M Murphy; Suran Nethisinghe; Rahul Phadke; Mary M Reilly
The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits.

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All Publications

2013: Petra Schwingenschuh; Maria Aguirregomozcorta; Kailash P Bhatia; Petra Katschnig-Winter; Michael P Lunn; Hadi Manji; Mary M Reilly; John C Rothwell; Tabish A Saifee; Reinhold Schmidt; Mark J Edwards
Cerebellar learning distinguishes inflammatory neuropathy with and without tremor.
Neurology 2013;80(20):1867-73.
2013: Ellen Cottenie; David J Dick; Henry Houlden; Zane Jaunmuktane; Manoj P Menezes; Jasper M Morrow; Janice R Anderson; Julian C Blake; Sebastian Brandner; Alexander M Rossor; Tarek A Yousry; Mary M Reilly
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.
Neuromuscular disorders : NMD 2013;23(5):399-403.
2013: James C Stevens; Glenn Anderson; fion bremner; Indran Davagnanam; Paola Giunti; Sinéad M Murphy; Suran Nethisinghe; Rahul Phadke; Mary M Reilly
The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits.
Journal of neurology, neurosurgery, and psychiatry 2013;84(1):114-6.
2012: Katy E S Barwick; Randy D Blakely; Barry Chioza; Ali Al-Memar; Saeed Al-Turki; Katherine J Dick; Matt E Hurles; Meriel McEntagart; Hamid Modarres; Ajith Nair; Mary M Reilly; Alicia M Ruggiero; Jane Wright; Andrew H Crosby
Defective presynaptic choline transport underlies hereditary motor neuropathy.
American journal of human genetics 2012;91(6):1103-7.
2012: Gita Ramdharry; Mary M Reilly; Anna Thornhill; Gill Mein; Jonathan F Marsden
Exploring the experience of fatigue in people with Charcot-Marie-Tooth disease.
Neuromuscular disorders : NMD 2012;22 Suppl 3():S208-13.
2012: Katherine A Fawcett; Victoria S Burchell; Hadi Manji; Sinead M Murphy; James M Polke; Ros M Quinlivan; Mary M Reilly; Selina Wray; Anselm A Zdebik; Henry Houlden
Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.
Journal of neurology, neurosurgery, and psychiatry 2012;83(12):1204-9.
2012: Gita Ramdharry; Jonathan F Marsden; Alexander J Pollard; Mary M Reilly
Comparing gait performance of people with Charcot-Marie-Tooth disease who do and do not wear ankle foot orthoses.
Physiotherapy research international : the journal for researchers and clinicians in physical therapy 2012;17(4):191-9.
2012: Gita Ramdharry; Mary M Reilly; Brian L Day; Jonathan F Marsden
Foot drop splints improve proximal as well as distal leg control during gait in Charcot-Marie-Tooth disease.
Muscle & nerve 2012;46(4):512-9.
2012: Janel Johnson; Andre Megarbane; Francesco Muntoni; Amelie Pandraud; Mary M Reilly; Javier Simón-Sánchez; Yevgeniya Abramzon; Sampath Arepalli; Peter Clayton; A Reghan Foley; J Raphael Gibbs; Dena G Hernandez; Henry Houlden; J Andoni Urtizberea; Andrew B Singleton
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
Brain : a journal of neurology 2012;135(Pt 9):2875-82.
2012: Sinead M Murphy; Amelie Pandraud; James M Polke; Gita Ramdharry; Alexander M Rossor; Julian C Blake; Karen Bull; Victoria Castleman; Gabrielle L Davidson; Mary Davis; Katherine Fawcett; Henry Houlden; Matilde Laura; Yo-Tsen Liu; M P T Lunn; Hadi Manji; Mary M Reilly
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
Journal of neurology, neurosurgery, and psychiatry 2012;83(7):706-10.
2012: Sinéad M Murphy; Richard Ovens; James Polke; Gita Ramdharry; Karen Bull; Henry Houlden; Matilde Laurà; Raymond P J Murphy; chris hall; Carly E Siskind; Mary M Reilly
X inactivation in females with X-linked Charcot-Marie-Tooth disease.
Neuromuscular disorders : NMD 2012;22(7):617-21.
2012: P J Arthur-Farraj; J Blake; Z Fox; M Laura; M P T Lunn; H Manji; S M Murphy; Gita Ramdharry; Mary M Reilly
Hand weakness in Charcot-Marie-Tooth disease 1X.
Neuromuscular disorders : NMD 2012;22(7):622-6.
2012: Fatima Jaffer; Heinz Jungbluth; Francesco Muntoni; Sinéad M Murphy; Rahul Phadke; Sebastian Brandner; Estelle Healy; Alexander M Rossor; Mariacristina Scoto; Duygu Selcen; Mary M Reilly
BAG3 mutations: another cause of giant axonal neuropathy.
Journal of the peripheral nervous system : JPNS 2012;17(2):210-6.
2012: Alexander M Rossor; Julian Blake; Gabrielle L Davidson; Linda Greensmith; Henry Houlden; Amy Innes; Bernadett Kalmar; Sinéad M Murphy; James M Polke; Mary M Reilly
A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.
Journal of the peripheral nervous system : JPNS 2012;17(2):201-5.
2012: Alexander M Rossor; Sinead Murphy; Mary M Reilly
Knee bobbing in Charcot-Marie-Tooth disease.
Practical neurology 2012;12(3):182-3.
2012: S Anand Trip; Tarek Yousry; Tabish Saifee; Hoskote Chandrashekar; Will Honan; Martin Koltzenburg; Michael P Lunn; Mary M Reilly
Chronic immune sensory polyradiculopathy with cranial and peripheral nerve involvement.
Journal of neurology 2012;259(6):1238-40.
2012: Jasper M Morrow; Rupert A Page; Shirley D'Sa; Mahir Al Hilali; Michael P Lunn; Mary M Reilly
Rituximab responsive multiple radiculopathies and cranial nerve palsies in association with chronic lymphocytic leukaemia.
Journal of neurology 2012;259(3):571-3.
2012: C D J Sinclair; Tarek A Yousry; Xavier Golay; Michael G Hanna; J M Morrow; Mary M Reilly; John S Thornton
Correcting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps.
NMR in biomedicine 2012;25(2):262-70.
2011: C D J Sinclair; Tarek A Yousry; P Cowley; I Davagnanam; Michael G Hanna; Martin Koltzenburg; H Mehta; M A Miranda; J M Morrow; Mary M Reilly; John S Thornton
MRI shows increased sciatic nerve cross sectional area in inherited and inflammatory neuropathies.
Journal of neurology, neurosurgery, and psychiatry 2011;82(11):1283-6.
2011: Jasper M Morrow; Mary M Reilly
The Babinski sign.
British journal of hospital medicine (London, England : 2005) 2011;72(10):M157-9.
2011: Sinéad M Murphy; David N Herrmann; Michael P McDermott; Mary M Reilly; Steven S Scherer; chris hall; Davide Pareyson
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.
Journal of the peripheral nervous system : JPNS 2011;16(3):191-8.
2011: Jean-Baptiste Rivière; Daniel Rochefort; Masoud Shekarabi; Myriam Srour; Vincent Timmerman; Hilde Van Esch; Jonathan Baets; Bernard Brais; Peter De Jonghe; Patrick A Dion; Rébecca Gaudet; Pascale Hince; Sébastien Holbert; Henry Houlden; Julie Lafontaine; Valérie Lavastre; Nancy Merner; Anne-Marie Mes-Masson; Shahriar Nafissi; Garth A Nicholson; Siriram Ramalingam; Mary M Reilly; Guy A Rouleau
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
American journal of human genetics 2011;89(2):219-30.
2011: J M Polke; R Sandford; Mary G Sweeney; F Taroni; G Bergamin; Julian Blake; S C Chamley; Mary B Davis; C Devile; V S Gibbons; Henry Houlden; M Laurá; M Milani; D Pareyson; Mary M Reilly
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
Neurology 2011;77(2):168-73.
2011: Carly E Siskind; Sinéad M Murphy; Richard Ovens; James Polke; Mary M Reilly; chris hall
Phenotype expression in women with CMT1X.
Journal of the peripheral nervous system : JPNS 2011;16(2):102-7.
2011: Sinéad M Murphy; James Polke; Hadi Manji; Julian Blake; Lilla Reiniger; Mary Sweeney; Henry Houlden; Sebastian Brandner; Mary M Reilly
A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.
Journal of the peripheral nervous system : JPNS 2011;16(1):65-70.
2011: Mary M Reilly; Sinéad M Murphy; Matilde Laurá
Charcot-Marie-Tooth disease.
Journal of the peripheral nervous system : JPNS 2011;16(1):1-14.
2011: Sinéad M Murphy; Matilde Laurá; Julian Blake; James Polke; fion bremner; Mary M Reilly
Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.
Neuromuscular disorders : NMD 2011;21(3):223-6.
2011: Tabish A Saifee; Mary M Reilly; Emmanuel Ako; Fergus Rugg-Gunn; Sebastian Brandner; Michael P Lunn; Siobhan M Leary
Sarcoidosis presenting as acute inflammatory demyelinating polyradiculoneuropathy.
Muscle & nerve 2011;43(2):296-8.
2011: M Russo; M Laurá; J M Polke; Mary B Davis; J Blake; S Brandner; R A C Hughes; H Houlden; D L H Bennett; M P T Lunn; Mary M Reilly
Variable phenotypes are associated with PMP22 missense mutations.
Neuromuscular disorders : NMD 2011;21(2):106-14.
2011: Anna Sadnicka; Mary M Reilly; Cath Mummery; Sebastian Brandner; Nicholas Hirsch; M P T Lunn
Rituximab in the treatment of three coexistent neurological autoimmune diseases: chronic inflammatory demyelinating polyradiculoneuropathy, Morvan syndrome and myasthenia gravis.
Journal of neurology, neurosurgery, and psychiatry 2011;82(2):230-2.
2011: Christian Guelly; Peng-Peng Zhu; Lea Leonardis; Lea Papić; Janez Zidar; Maria Schabhüttl; Heimo Strohmaier; Joachim Weis; Tim M Strom; Jonathan Baets; Jan Willems; Peter De Jonghe; Mary M Reilly; Eleonore Fröhlich; Martina Hatz; Slave Trajanoski; Thomas R Pieber; Andreas R Janecke; Craig Blackstone; Michaela Auer-Grumbach
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
American journal of human genetics 2011;88(1):99-105.
2011: Laura-Jane E Smith; Sinéad M Murphy; Paul Holmes; Mary M Reilly; Lilla Reiniger; Maria Thom; M P T Lunn
A painful right leg.
BMJ (Clinical research ed.) 2011;342():d1009.
2010: Mary M Reilly; chris hall; Francesco Muntoni; D Pareyson
168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT).
Neuromuscular disorders : NMD 2010;20(12):839-46.
2009: Mary M Reilly; chris hall
Diagnosis and new treatments in genetic neuropathies.
Journal of neurology, neurosurgery, and psychiatry 2009;80(12):1304-14.
2009: Axel Petzold; J Brettschneider; K Jin; Geoff Keir; Nicholas M F Murray; N P Hirsch; Y Itoyama; Mary M Reilly; A Takeda; H Tumani
CSF protein biomarkers for proximal axonal damage improve prognostic accuracy in the acute phase of Guillain-Barré syndrome.
Muscle & nerve 2009;40(1):42-9.
2009: Henry Houlden; Simon Hammans; Haider Katifi; Mary M Reilly
A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.
Neurology 2009;72(7):617-20.
2008: D L H Bennett; M Groves; J Blake; J L Holton; Rosalind H M King; R W Orrell; Lionel Ginsberg; Mary M Reilly
The use of nerve and muscle biopsy in the diagnosis of vasculitis: a 5 year retrospective study.
Journal of neurology, neurosurgery, and psychiatry 2008;79(12):1376-81.
2008: Henry Houlden; M Laura; F Wavrant-De Vrièze; Julian Blake; Nicholas W Wood; Mary M Reilly
Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.
Neurology 2008;71(21):1660-8.
2007: Barbara Rohkamm; Mary M Reilly; Hanns Lochmüller; Beate Schlotter-Weigel; Nina Barisic; Ludger Schöls; Garth Nicholson; Davide Pareyson; Matilde Laurà; Andreas R Janecke; Gabriel Miltenberger-Miltenyi; Elisabeth John; Carina Fischer; Franz Grill; William Wakeling; Mary Davis; Thomas R Pieber; Michaela Auer-Grumbach
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Journal of the neurological sciences 2007;263(1-2):100-6.
2007: Henry Houlden; Mike Groves; Zosia Miedzybrodzka; Helen Roper; Tracey Willis; John Winer; Gaynor Cole; Mary M Reilly
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.
Journal of neurology, neurosurgery, and psychiatry 2007;78(11):1267-70.
2007: Mary M Reilly
Sorting out the inherited neuropathies.
Practical neurology 2007;7(2):93-105.
2006: Axel Petzold; N Hinds; Nicholas M F Murray; N P Hirsch; D Grant; Geoff Keir; Edward J Thompson; Mary M Reilly
CSF neurofilament levels: a potential prognostic marker in Guillain-Barré syndrome.
Neurology 2006;67(6):1071-3.
2006: Marjanne J L Descamps; L Barrett; Mike Groves; L Yung; R Birch; Nicholas M F Murray; D C Linch; M P T Lunn; Mary M Reilly
Primary sciatic nerve lymphoma: a case report and review of the literature.
Journal of neurology, neurosurgery, and psychiatry 2006;77(9):1087-9.
2006: Mary M Reilly; P de Jonghe; Davide Pareyson
136th ENMC International Workshop: Charcot-Marie-Tooth disease type 1A (CMT1A)8-10 April 2005, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2006;16(6):396-402.
2006: Henry Houlden; Rosalind King; Julian Blake; Mike Groves; Seth Love; Cathy Woodward; Simon Hammans; Nicoll James; Graham Lennox; Dominic G O'Donovan; Carolyn Gabriel; PK Thomas; Mary M Reilly
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
Brain : a journal of neurology 2006;129(Pt 2):411-25.
2006: Henry Houlden; Mary M Reilly
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.
Neuromolecular medicine 2006;8(1-2):43-62.
2005: M Laura; W Leong; Nicholas M F Murray; Gordon T Ingle; Katherine A Miszkiel; Daniel R Altmann; DH Miller; Mary M Reilly
Chronic inflammatory demyelinating polyradiculoneuropathy: MRI study of brain and spinal cord.
Neurology 2005;64(5):914-6.
2004: Henry Houlden; Mathilde Girard; Charles Cockerell; David Ingram; Nicholas W Wood; Michel Goossens; Rodney W H Walker; Mary M Reilly
Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction.
Annals of neurology 2004;56(5):730-4.
2004: Henry Houlden; Rosalind H M King; John R Muddle; Thomas T Warner; Mary M Reilly; Richard W Orrell; Lionel Ginsberg
A novel RAB7 mutation associated with ulcero-mutilating neuropathy.
Annals of neurology 2004;56(4):586-90.
2004: Henry Houlden; Julian Blake; Mary M Reilly
Hereditary sensory neuropathies.
Current opinion in neurology 2004;17(5):569-77.
2004: David L H Bennett; George J M Webster; Paul Molyneux; Marjanne J L Descamps; Gordon T Plant; Stephen P Pereira; Mary M Reilly
The world through tinted glasses.
Lancet 2004;364(9431):388.
2003: Ming-Jen Lee; Dennis A Stephenson; Michael J Groves; Mary G Sweeney; Mary B Davis; Shu F An; Henry Houlden; Mustafa A Salih; Vincent Timmerman; Peter de Jonghe; Michaela Auer-Grumbach; Emilio Di Maria; Francesco Scaravilli; Nicholas W Wood; Mary M Reilly
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.
Human molecular genetics 2003;12(15):1917-25.
2003: Martin R Turner; Jason D Warren; Jean M Jacobs; Mike J Groves; Kwee Yong; William P Honan; PK Thomas; Mary M Reilly
Microvasculitic paraproteinaemic polyneuropathy and B-cell lymphoma.
Journal of the peripheral nervous system : JPNS 2003;8(2):100-7.
2002: Mary M Reilly; Michael G Hanna
Genetic neuromuscular disease.
Journal of neurology, neurosurgery, and psychiatry 2002;73 Suppl 2():II12-21.
2002: Henry Houlden; Stephen Smith; Mamede de Carvalho; Julian Blake; Christopher Mathias; Nicholas W Wood; Mary M Reilly
Clinical and genetic characterization of families with triple A (Allgrove) syndrome.
Brain : a journal of neurology 2002;125(Pt 12):2681-90.
2002: Ming-Jen Lee; Yuan-Chung Huang; Mary G Sweeney; Nicholas W Wood; Mary M Reilly; Ping-Keung Yip
Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis.
Journal of neurology 2002;249(9):1311-2.
2002: M-J Lee; Isabelle P Nelson; Henry Houlden; Mary G Sweeney; D Hilton-Jones; Julian Blake; Nicholas W Wood; Mary M Reilly
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
Journal of neurology, neurosurgery, and psychiatry 2002;73(3):304-6.
2002: P Garrard; Julian Blake; V Stinton; Michael G Hanna; Mary M Reilly; Janice L Holton; David N Landon; W P Honan
Distal myopathy with tubular aggregates: a new phenotype associated with multiple deletions in mitochondrial DNA?
Journal of neurology, neurosurgery, and psychiatry 2002;73(2):207-8.
2001: Henry Houlden; Rosalind H M King; Nicholas W Wood; PK Thomas; Mary M Reilly
Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.
Brain : a journal of neurology 2001;124(Pt 5):907-15.
2000: Mary M Reilly
Classification of the hereditary motor and sensory neuropathies.
Current opinion in neurology 2000;13(5):561-4.
1998: Mary M Reilly
Genetically determined neuropathies.
Journal of neurology 1998;245(1):6-13.