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List of works by Mary Reilly

221st ENMC International Workshop:: Foot Surgery in Charcot-Marie-Tooth disease. 10-12 June 2016, Naarden, The Netherlands

scientific article published on 21 September 2017

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

scientific article published on 27 August 2020

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

scientific article published on 23 August 2017

A diagnostic conundrum.

scientific article

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance

scientific journal article

A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease

scientific article published on 15 October 2020

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

scientific article published on 11 February 2020

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

scientific article published on 27 May 2019

A new prion disease: relationship with central and peripheral amyloidoses

scientific article

A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.

scientific article published on February 2009

A novel RAB7 mutation associated with ulcero-mutilating neuropathy

scientific article published in October 2004

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

scientific article published on 01 October 2020

A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres

scientific article published on 22 May 2020

A novel homozygous variant extending the peripheral myelin protein 22 by 9 AMino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia

scientific article published on 15 May 2020

A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease

scientific article published on 24 May 2017

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

scientific article published in March 2011

A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2

scientific article published on 01 June 2012

A novel prion disease associated with diarrhea and autonomic neuropathy

scientific article

A painful right leg

scientific article published on 16 March 2011

A pilot study of proximal strength training in Charcot-Marie-Tooth disease

scientific article published in December 2014

A practical approach to the genetic neuropathies.

scientific article published on 21 April 2015

A proposed dosing algorithm for the individualized dosing of human immunoglobulin in chronic inflammatory neuropathies

scientific article published on 12 January 2016

A study of physical activity comparing people with Charcot-Marie-Tooth disease to normal control subjects.

scientific article published on 16 August 2016

Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.

scientific article

An observational study of asymmetry in CMT1A.

scientific article published on 13 October 2014

Anti Ma2-associated myeloradiculopathy: expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes

scientific article published on 04 January 2011

Antisense oligonucleotides and other genetic therapies made simple.

scientific article published on 17 February 2018

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease

scientific article

Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial ⬇️

scientific article published on April 1, 2011

Asymmetric sensory ganglionopathy: a case series

scientific article published on 06 June 2013

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

scientific article published on 01 May 2019

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

scientific article published on 26 May 2020

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy

scientific article published on 01 April 2019

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

scientific article (publication date: May 2014)

Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting!

scientific article published on 01 July 2005

BAG3 mutations: another cause of giant axonal neuropathy

scientific article published on 01 June 2012

Balance impairment in pediatric charcot-marie-tooth disease

scientific article published on 15 May 2019

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

scientific article published on 29 March 2019

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

scientific article published on 04 May 2020

Bortezomib-induced inflammatory neuropathy.

scientific article published on December 2010

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

scientific article

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.

scientific article

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

scientific article published on 01 February 2020

Cerebellar learning distinguishes inflammatory neuropathy with and without tremor

scientific article

Cervical spinal cord compression complicating the clinical course of Charcot-Marie-Tooth type 1.

scientific article

Charcot neuroarthropathy in patients with Charcot Marie Tooth Disease

scientific article published on 26 November 2020

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation

scientific article published on 21 April 2020

Charcot-Marie-Tooth disease

scientific article published on 01 March 2011

Charcot-Marie-Tooth disease and related disorders: an evolving landscape

scientific article published on 01 October 2019

Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation

scientific article published on 06 June 2015

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

scientific article published on 10 May 2012

Chronic immune sensory polyradiculopathy with cranial and peripheral nerve involvement

scientific article published on 29 November 2011

Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis

scientific article published on 01 January 2019

Clinical and genetic characterization of families with triple A (Allgrove) syndrome

scientific article published in December 2002

Clinical and genetic characterization of leukoencephalopathies in adults

scientific article

Clinical characteristics, risk factors, and outcomes of POEMS syndrome: A longitudinal cohort study

scientific article published on 30 June 2020

Clinical implications of genetic advances in Charcot-Marie-Tooth disease

scientific article published on 10 September 2013

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

scientific article

Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).

scientific article

Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity

scientific article published on 08 March 2019

Comparing Gait Performance of People with Charcot-Marie-Tooth Disease Who Do and Do Not Wear Ankle Foot Orthoses

scientific article published on 9 January 2012

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls

scientific article published on 31 July 2012

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation

scientific article published on 21 January 2011

Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction

scientific article published on 01 November 2004

Copper deficiency as a treatable cause of poor balance

scientific article published on 12 April 2010

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

scientific article

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy

scientific journal article

DNA testing in hereditary neuropathies

scientific article published on January 2013

Defective presynaptic choline transport underlies hereditary motor neuropathy.

scientific article

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

scientific article published on 11 February 2015

Development and Validation of the Pediatric CMT Quality of Life Outcome Measure

scientific article published on 22 November 2020

Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS).

scientific article published on 20 May 2011

Diagnosis of amyloid neuropathy

scientific article published on 30 December 2018

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

scientific article published on 31 October 2019

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

scientific article

Dramatic clinical response to ultra-high dose IVIg in otherwise treatment resistant inflammatory neuropathies

scientific article published on 25 August 2020

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

scientific article published on 14 December 2016

Early detection of nerve injury in transthyretin-related familial amyloid polyneuropathy

scientific article published on March 2015

Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation

scientific article published on 01 August 2015

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

scientific article published on 01 August 2015

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

scientific article

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

scientific article published on June 2013

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

scientific article

Exploring the experience of fatigue in people with Charcot-Marie-Tooth disease

scientific article published in December 2012

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

scientific article

Foot drop splints improve proximal as well as distal leg control during gait in Charcot-Marie-Tooth Disease

scientific article published on 13 September 2012

Frequency and circumstances of falls for people with Charcot-Marie-Tooth disease: A cross sectional survey

scientific article

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

scientific article published on 30 July 2007

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy

article

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre

scientific article published on 19 August 2019

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

scientific article

Genetically determined neuropathies ⬇️

scientific article published on January 1, 1998

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene

scientific article

Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy ⬇️

scientific article published on 01 September 1998

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.

scientific article published on 15 May 2014

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.

scientific article published on 08 May 2013

Hereditary sensory neuropathies

scientific article published on 01 October 2004

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene

scientific journal article

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids

scientific article

Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro

scientific article published on 18 May 2018

Hip flexor fatigue limits walking in Charcot-Marie-Tooth disease.

scientific article published on July 2009

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

scientific article

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

scientific article

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

scientific article published on 29 August 2018

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

scientific article

KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement

scientific article published on 24 February 2020

Knee bobbing in Charcot–Marie–Tooth disease: Figure 1 ⬇️

scientific article published on June 1, 2012

Leprosy in a patient infected with HIV.

scientific article published on 9 December 2016

Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy

scientific article published on 17 March 2020

MFN2 deletion of exons 7 and 8: founder mutation in the UK population

scientific article

MFN2 mutations cause compensatory mitochondrial DNA proliferation

scientific article published on 4 April 2012

MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study.

scientific article

MRI quantifies lumbosacral nerve root and sciatic nerve hypertrophy in chronic inflammatory demyelinating polyradiculoneuropathy

scientific article published on 07 July 2020

Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease

scientific article published on 8 June 2017

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

article

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease

scientific article published on January 2006

Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias

scientific article published on 27 June 2013

Musclesense: a Trained, Artificial Neural Network for the Anatomical Segmentation of Lower Limb Magnetic Resonance Images in Neuromuscular Diseases

scientific article published on 05 September 2020

Mutation in FAM134B causing severe hereditary sensory neuropathy

scientific article

Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis

scientific article (publication date: September 2002)

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

scientific article

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

scientific article published on 10 March 2017

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy ⬇️

scientific article published on March 28, 2012

NEFL-related Charcot-Marie-tooth disease: an unraveling story

scientific article published on 01 December 2009

Natural history of Charcot-Marie-Tooth disease during childhood

scientific article

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

scientific article published on 08 January 2021

Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies.

scientific article published on 29 November 2017

Neuropathy in a human without the PMP22 gene.

scientific article published on June 2011

New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy

scientific article

Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges

scientific article published on 03 October 2019

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

scientific article

Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity

scientific article

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

scientific article

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies

scientific article published on 21 November 2020

Obstructive sleep apnoea, restless leg syndrome and Charcot-Marie-Tooth disease type 1: important associations ⬇️

scientific article published on June 11, 2013

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay

scientific article published on 01 April 2018

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

scientific article published on 01 July 2019

PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker

scientific article published on 8 May 2014

POEMS neuropathy: optimising diagnosis and management.

scientific article published on 6 March 2018

Pain and small fiber function in Charcot-Marie-Tooth disease type 1A

scientific article published on 15 May 2014

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

scientific article published on 9 August 2017

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

scientific article

Phenotype expression in women with CMT1X

scientific article published on 01 June 2011

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease

scientific article published on 04 April 2016

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

scientific article

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene

scientific article published on 08 October 2016

Plasma neurofilament heavy chain is not a useful biomarker in Charcot-Marie-Tooth disease

scientific article published on 27 April 2016

Plasma neurofilament light chain concentration in the inherited peripheral neuropathies

scientific article published on 10 January 2018

Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis

scientific article published on 14 October 2019

Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.

scientific article published on 20 June 2017

Professor P. K. Thomas: clinician, investigator, editor and leader--a retrospective appreciation

scientific article published in February 2011

Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis

scientific article

RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome

scientific article published on 19 September 2020

Raised VEGF: High sensitivity and specificity in the diagnosis of POEMS syndrome

article published in 2018

Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy

scientific article published on 13 March 2013

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

scientific journal article

Recent advances in the genetic neuropathies.

scientific article

Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes

scientific article published on 01 November 2008

Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS

scientific article published on 06 August 2020

Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies.

scientific article published in June 2013

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

scientific article

Reliability of the Charcot-Marie-Tooth functional outcome measure

scientific article published on 10 August 2020

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

scientific article

Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Rituximab in the treatment of three coexistent neurological autoimmune diseases: chronic inflammatory demyelinating polyradiculoneuropathy, Morvan syndrome and myasthenia gravis

scientific article published on 12 May 2010

Rituximab responsive multiple radiculopathies and cranial nerve palsies in association with chronic lymphocytic leukaemia

scientific article published on 02 September 2011

Rydel-Seiffer fork revisited: Beyond a simple case of black and white

scientific article published on 13 July 2016

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.

scientific article published on 22 December 2016

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

scientific article published on 14 September 2016

Sarcoidosis presenting as acute inflammatory demyelinating polyradiculoneuropathy

scientific article published on 01 February 2011

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients.

scientific article published on 19 June 2014

Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling

scientific article published in March 2016

Serial cerebrospinal fluid neurofilament heavy chain levels in severe Guillain-Barré syndrome

scientific article published on 29 May 2013

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

scientific article published on 01 June 2012

Severe axonal neuropathy is a late manifestation of SPG11.

scientific article published on 20 August 2016

Severe cognitive impairment in a patient with CMT2A

scientific article published on 26 March 2018

Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1 ⬇️

scientific article published on September 23, 2003

Stability and sensitivity of water T2 obtained with IDEAL-CPMG in healthy and fat-infiltrated skeletal muscle

scientific article (publication date: December 2016)

Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease

scientific article

TDP43 pathology in the brain, spinal cord, and dorsal root ganglia of a patient with FOSMN

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

scientific article

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

scientific article published on 11 December 2019

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

scientific article published on 26 June 2018

The distal hereditary motor neuropathies.

scientific article published on 25 October 2011

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

scientific article published on 9 March 2009

The world through tinted glasses

scientific article published on 01 July 2004

Thromboembolic risk with IVIg: Incidence and risk factors in patients with inflammatory neuropathy

scientific article published on 18 December 2019

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease

scientific article published on June 2013

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A

scientific article published on 12 December 2019

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

scientific article

Tremor in Charcot-Marie-Tooth disease: No evidence of cerebellar dysfunction

scientific article published on 17 January 2015

Tremor in inflammatory neuropathies

scientific article published on 5 September 2012

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

scientific article

Uneventful administration of vincristine in Charcot-Marie-Tooth disease type 1X.

scientific article published on April 2008

Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials

scientific article

Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A

scientific article published on 17 August 2018

Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability

scientific article

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.

scientific article published on 22 February 2018

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A

scientific article published on 01 March 2019

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges

scientific article

Wisdom tooth extraction causing lingual nerve and styloglossus muscle damage: a mimic of multiple cranial nerve palsies

scientific article published on 26 February 2017

X inactivation in females with X-linked Charcot-Marie-Tooth disease.

scientific article published on 6 April 2012

[Copper deficiency as a treatable cause of poor balance]

scientific article published on 01 September 2010

c-Jun expression in human neuropathies: a pilot study

scientific article published on 01 December 2011

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