Mary Reilly
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Irish neurologist
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Mary Reilly philosophy Degrees
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Mary Reilly 's Degrees
- Bachelors Medicine National University of Ireland
- Doctorate Neurology Trinity College Dublin
Why Is Mary Reilly Influential?
(Suggest an Edit or Addition)According to Wikipedia, Mary M. Reilly FRCP is an Irish neurologist who works at National Hospital for Neurology and Neurosurgery. She studies peripheral neuropathy. She is the President of the Association of British Neurologists.
Mary Reilly 's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Reliability and validity of the CMT neuropathy score as a measure of disability (2005) (352)
- Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids*♦ (2010) (295)
- Clinical implications of genetic advances in Charcot–Marie–Tooth disease (2013) (287)
- Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing (2012) (277)
- Reliability of the CMT neuropathy score (second version) in Charcot‐Marie‐Tooth disease (2011) (267)
- Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (2019) (250)
- MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study (2016) (232)
- CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis (2014) (218)
- Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial (2011) (214)
- Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy (2012) (207)
- The distal hereditary motor neuropathies (2011) (187)
- KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. (2011) (174)
- MFN2 mutations cause severe phenotypes in most patients with CMT2A (2011) (168)
- Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2 (2008) (168)
- Charcot‐Marie‐Tooth disease (2011) (161)
- Diagnosis and new treatments in genetic neuropathies (2009) (157)
- Randomised controlled trial of methotrexate for chronic inflammatory demyelinating polyradiculoneuropathy (RMC trial): a pilot, multicentre study (2009) (156)
- Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. (2013) (156)
- Clinical and genetic characterization of families with triple A (Allgrove) syndrome. (2002) (147)
- Plasma neurofilament light chain concentration in the inherited peripheral neuropathies (2018) (145)
- Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 (2013) (141)
- Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability (2012) (132)
- Transcriptional regulator PRDM12 is essential for human pain perception (2015) (132)
- Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). (2006) (127)
- Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. (2010) (125)
- Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. (2011) (123)
- A novel RAB7 mutation associated with ulcero‐mutilating neuropathy (2004) (119)
- Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. (2012) (114)
- Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy (1998) (111)
- Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2 (2013) (111)
- Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. (1999) (106)
- A novel prion disease associated with diarrhea and autonomic neuropathy. (2013) (105)
- Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion (2020) (104)
- Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy (2015) (101)
- Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges (2019) (97)
- A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V (2001) (94)
- Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease (2012) (93)
- Whole genome sequencing of a sporadic primary immunodeficiency cohort (2018) (92)
- Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin. (2001) (90)
- Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. (2003) (88)
- The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy (2009) (84)
- Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. (2012) (82)
- The use of nerve and muscle biopsy in the diagnosis of vasculitis: a 5 year retrospective study (2007) (82)
- Defective presynaptic choline transport underlies hereditary motor neuropathy. (2012) (80)
- Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. (2015) (80)
- Recent advances in the genetic neuropathies. (2016) (79)
- Extended phenotypic spectrum of KIF5A mutations (2014) (79)
- Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations (2011) (79)
- Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. (2015) (78)
- Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort (2012) (78)
- Differentiating lower motor neuron syndromes (2016) (78)
- Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. (2010) (77)
- Genetic aspects of hereditary motor and sensory neuropathy (2000) (76)
- Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies (2018) (75)
- Sorting out the inherited neuropathies. (2007) (72)
- Refsum's disease. (2001) (71)
- Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations (2017) (71)
- Alemtuzumab in the treatment of IVIG-dependent chronic inflammatory demyelinating polyneuropathy (2009) (71)
- Primary sciatic nerve lymphoma: a case report and review of the literature (2006) (69)
- Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. (2015) (68)
- Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. (2014) (68)
- Charcot-Marie-Tooth disease and related disorders: an evolving landscape. (2019) (67)
- A practical approach to the genetic neuropathies (2015) (66)
- Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome (2007) (65)
- Genetic variation in DNMT3B and increased global DNA methylation is associated with suicide attempts in psychiatric patients (2013) (65)
- BAG3 mutations: another cause of giant axonal neuropathy (2012) (65)
- Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study. (1995) (65)
- Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. (2001) (64)
- Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease (2007) (63)
- Clinical and genetic characterization of leukoencephalopathies in adults (2017) (63)
- Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease (2002) (62)
- 168th ENMC International Workshop: Outcome measures and clinical trials in Charcot–Marie–Tooth disease (CMT) (2010) (62)
- Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (2020) (62)
- Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease. (2016) (61)
- Tremor in inflammatory neuropathies (2012) (60)
- Connexin 32 promoter P2 mutations: A mechanism of peripheral nerve dysfunction (2004) (59)
- A proposed dosing algorithm for the individualized dosing of human immunoglobulin in chronic inflammatory neuropathies (2016) (58)
- Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene. (2003) (58)
- Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression (2017) (57)
- c‐Jun expression in human neuropathies: a pilot study (2011) (56)
- Clinical, pathological and functional characterization of riboflavin-responsive neuropathy (2017) (55)
- CSF neurofilament levels: A potential prognostic marker in Guillain–Barré syndrome (2006) (55)
- Peripheral Nerve Amyloidosis (1996) (55)
- Reproducibility, and age, body-weight and gender dependency of candidate skeletal muscle MRI outcome measures in healthy volunteers (2014) (55)
- A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK (2015) (54)
- Mutation in FAM134B causing severe hereditary sensory neuropathy (2010) (53)
- Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation (2013) (53)
- Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias☆ (2013) (52)
- Classification of the hereditary motor and sensory neuropathies (2000) (52)
- Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease (2019) (52)
- Variable phenotypes are associated with PMP22 missense mutations (2010) (51)
- Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. (1995) (50)
- Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy (1996) (50)
- MRI shows increased sciatic nerve cross sectional area in inherited and inflammatory neuropathies (2010) (49)
- Psychometrics evaluation of Charcot‐Marie‐Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis (2014) (49)
- Genetically determined neuropathies (1997) (49)
- Peripheral neuropathy in complex inherited diseases: an approach to diagnosis (2017) (49)
- CSF protein biomarkers for proximal axonal damage improve prognostic accuracy in the acute phase of Guillain‐Barré syndrome (2009) (48)
- Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges (2014) (47)
- Treatment of chronic inflammatory demyelinating polyradiculoneuropathy with methotrexate (2006) (46)
- Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials (2016) (46)
- MFN2 mutations cause compensatory mitochondrial DNA proliferation (2012) (46)
- Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis (2019) (46)
- Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. (2016) (45)
- Natural history of Charcot‐Marie‐Tooth disease during childhood (2017) (45)
- Phenotype expression in women with CMT1X (2011) (45)
- Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies (2011) (44)
- Ascorbic acid for the treatment of Charcot-Marie-Tooth disease. (2015) (44)
- PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation (2019) (44)
- Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. (2016) (43)
- A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. (2013) (43)
- 136th ENMC International Workshop: Charcot–Marie–Tooth Disease Type 1A (CMT1A)8–10 April 2005, Naarden, The Netherlands (2006) (43)
- Genetic neuromuscular disease (2002) (42)
- Antisense oligonucleotides and other genetic therapies made simple (2018) (42)
- Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease (2015) (41)
- Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia (2014) (41)
- A new prion disease: relationship with central and peripheral amyloidoses (2015) (41)
- Hip flexor fatigue limits walking in Charcot–Marie–Tooth disease (2009) (40)
- Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2 (2013) (40)
- Hereditary sensory neuropathies (2004) (40)
- Foot drop splints improve proximal as well as distal leg control during gait in Charcot‐Marie‐Tooth Disease (2012) (39)
- Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease (2017) (39)
- Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT (2017) (38)
- Nerve conduction velocity in CMT1A: what else can we tell? (2016) (38)
- Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy (2013) (37)
- Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. (2013) (37)
- Rapidly progressive asymmetrical weakness in Charcot–Marie–Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy (2013) (37)
- The integrated stress response contributes to tRNA synthetase–associated peripheral neuropathy (2021) (36)
- Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis (2019) (36)
- Prevalence and orthopedic management of foot and ankle deformities in Charcot–Marie–Tooth disease (2017) (35)
- RFC1 expansions are a common cause of idiopathic sensory neuropathy (2021) (35)
- A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H (2009) (35)
- Rituximab in the treatment of three coexistent neurological autoimmune diseases: chronic inflammatory demyelinating polyradiculoneuropathy, Morvan syndrome and myasthenia gravis (2010) (35)
- Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay (2018) (34)
- CIDP: mimics and chameleons (2014) (33)
- Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro (2018) (33)
- Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders (2021) (33)
- The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies (2018) (32)
- GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment (2009) (32)
- Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A (2018) (32)
- SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome (2016) (32)
- New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy (2007) (32)
- Comparing gait performance of people with Charcot-Marie-Tooth disease who do and do not wear ankle foot orthoses. (2012) (30)
- Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy (2015) (30)
- Are we prepared for clinical trials in Charcot-Marie-Tooth disease? (2019) (29)
- COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood. (2013) (29)
- 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 (2014) (28)
- Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease (2017) (28)
- Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity (2015) (27)
- Bortezomib‐induced inflammatory neuropathy (2010) (27)
- Mutations in BICD 2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia (2013) (27)
- A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families. (2020) (27)
- Cerebellar learning distinguishes inflammatory neuropathy with and without tremor (2013) (27)
- PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker. (2014) (27)
- Familial Amyloid Polyneuropathy (1993) (27)
- Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy (2019) (27)
- Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity (2019) (26)
- Is overwork weakness relevant in Charcot–Marie–Tooth disease? (2014) (26)
- Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2. (2014) (26)
- X inactivation in females with X-linked Charcot–Marie–Tooth disease (2012) (26)
- A pilot study of proximal strength training in Charcot‐Marie‐Tooth disease (2014) (26)
- Cabozantinib in Patients with Advanced Merkel Cell Carcinoma. (2018) (25)
- Neurofilament Light Chain as a Biomarker of Hereditary Transthyretin-Mediated Amyloidosis (2020) (25)
- Pain and small fiber function in charcot–marie–tooth disease type 1A (2014) (25)
- KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement (2020) (25)
- Expanding the spectrum of genes responsible for hereditary motor neuropathies (2019) (25)
- A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. (2020) (24)
- Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A (2019) (24)
- A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder (2017) (24)
- Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene (2017) (24)
- A novel mutation in the nerve‐specific 5′UTR of the GJB1 gene causes X‐linked Charcot‐Marie‐Tooth disease (2011) (24)
- Neuropathy in a human without the PMP22 gene. (2011) (23)
- Axonal Charcot–Marie–Tooth disease (2005) (23)
- Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1) (2017) (23)
- TDP43 pathology in the brain, spinal cord, and dorsal root ganglia of a patient with FOSMN (2019) (23)
- Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy. (2015) (22)
- A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores (2020) (22)
- Improved anatomical reproducibility in quantitative lower‐limb muscle MRI (2014) (22)
- Clinical characteristics, risk factors, and outcomes of POEMS syndrome (2020) (22)
- Transthyretin gene mutations in British and French patients with amyloid neuropathy. (1993) (21)
- Altered TDP‐43‐dependent splicing in HSPB8‐related distal hereditary motor neuropathy and myofibrillar myopathy (2018) (21)
- Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation (2011) (21)
- Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A (2019) (21)
- A study of physical activity comparing people with Charcot-Marie-Tooth disease to normal control subjects (2017) (20)
- Exploring the experience of fatigue in people with Charcot–Marie–Tooth disease (2012) (20)
- Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study (2020) (20)
- A novel amyloidogenic transthyretin variant, Gly53Ala, associated with intermittent headaches and ataxia (2006) (19)
- Classification and diagnosis of the inherited neuropathies (2009) (19)
- Tremor in Charcot-Marie-Tooth disease: No evidence of cerebellar dysfunction (2015) (19)
- Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77) (1995) (19)
- Anti Ma2-associated myeloradiculopathy: expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes (2011) (19)
- AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy (2021) (19)
- The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits (2012) (19)
- Motor neuron pathology in CANVAS due to RFC1 expansions. (2021) (18)
- Balance impairment in pediatric charcot–marie–tooth disease (2016) (17)
- A novel p.Glu175X premature stop mutation in the C‐terminal end of HSP27 is a cause of CMT2 (2012) (17)
- RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome. (2020) (17)
- A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs) (2019) (17)
- Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy (2017) (17)
- Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot‐Marie‐Tooth disease (2013) (17)
- Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X. (2019) (17)
- Trigeminal neuralgia associated with osteogenesis imperfecta. (1995) (16)
- POEMS neuropathy: optimising diagnosis and management (2018) (16)
- Epidemiology of Wilson's disease in Ireland (2014) (16)
- Erratum: The draft genome of the grass carp (Ctenopharyngodon idellus) provides insights into its evolution and vegetarian adaptation (2015) (16)
- High prevalence of the MYD88 L265P mutation in IgM anti-MAG paraprotein-associated peripheral neuropathy (2017) (16)
- Assessing non-Mendelian Inheritance in Inherited Axonopathies (2020) (16)
- Hand weakness in Charcot-Marie-Tooth disease 1X (2012) (15)
- Correcting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps (2012) (15)
- Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (2018) (15)
- Diagnosis of amyloid neuropathy (2018) (15)
- Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1 (2019) (14)
- Chronic inflammatory demyelinating polyradiculoneuropathy: MRI study of brain and spinal cord (2005) (14)
- An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy (2021) (14)
- The death panel for Charcot‐Marie‐Tooth panels (2011) (14)
- Syncope associated with pain as the presenting feature of neck malignancy: failure of cardiac pacemaker to prevent attacks in two cases (2005) (14)
- Raised VEGF (2018) (14)
- Osteonecrosis of the jaw in a patient receiving bisphosphonate therapy. (2007) (13)
- Inherited Neuropathies (2015) (13)
- Serial cerebrospinal fluid neurofilament heavy chain levels in severe Guillain‐Barré syndrome (2013) (13)
- Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls (2012) (13)
- Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease. (2012) (13)
- MFN2 deletion of exons 7 and 8: founder mutation in the UK population (2015) (13)
- Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin (2019) (13)
- Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy (2009) (12)
- Rydel-Seiffer fork revisited: Beyond a simple case of black and white (2016) (12)
- Chronic immune sensory polyradiculopathy with cranial and peripheral nerve involvement (2012) (12)
- Plasma neurofilament heavy chain is not a useful biomarker in Charcot–Marie–Tooth disease (2016) (12)
- Asymmetric sensory ganglionopathy: A case series (2013) (12)
- Disorders of the peripheral nerves (2003) (12)
- Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation (2020) (12)
- Variant pathogenicity evaluation in the community‐driven Inherited Neuropathy Variant Browser (2018) (11)
- Knee bobbing in Charcot–Marie–Tooth disease (2012) (11)
- Thromboembolic risk with IVIg (2019) (11)
- Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (2011) (11)
- Sarcoidosis presenting as acute inflammatory demyelinating polyradiculoneuropathy (2011) (11)
- Severe axonal neuropathy is a late manifestation of SPG11 (2016) (10)
- DNA testing in hereditary neuropathies. (2013) (10)
- Carpal tunnel syndrome in inherited neuropathies: A retrospective survey (2018) (10)
- Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair (2019) (10)
- Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study (2019) (10)
- Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis (2022) (10)
- Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic (2020) (10)
- 221st ENMC International Workshop: Foot Surgery in Charcot-Marie-Tooth disease. 10–12 June 2016, Naarden, The Netherlands (2017) (9)
- P86 Inter-scan reproducibility of quantitative neuromuscular MRI (2010) (9)
- Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy (2019) (9)
- IGHMBP2 mutation associated with organ-specific autonomic dysfunction (2018) (8)
- Clinical, neuropathological and radiological evidence for a rare complication of rituximab therapy (2012) (8)
- Distal myopathy with tubular aggregates: a new phenotype associated with multiple deletions in mitochondrial DNA? (2002) (8)
- Frequency and circumstances of falls for people with Charcot–Marie–Tooth disease: A cross sectional survey (2018) (8)
- SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement (2016) (8)
- [Copper deficiency as a treatable cause of poor balance]. (2010) (8)
- An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions (2021) (8)
- MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A (2021) (8)
- Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes. (2008) (7)
- Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure (2020) (7)
- Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies (2015) (7)
- Whole genome sequencing for diagnosis of neurological repeat expansion disorders (2020) (7)
- [Demonstration of genetic mutation in most of the amyloid neuropathies with sporadic occurrence]. (1992) (7)
- Vitamin C and Charcot–Marie–Tooth 1A: Pharmacokinetic considerations (2013) (7)
- Stability and sensitivity of water T 2 obtained with IDEAL‐CPMG in healthy and fat‐infiltrated skeletal muscle (2016) (7)
- Reliability of the Charcot-Marie-Tooth functional outcome measure. (2020) (6)
- Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype (2021) (6)
- A novel mutation in the FGD4 gene causing Charcot‐Marie‐Tooth disease (2017) (6)
- P42 Hereditary sensory neuropathy type 1: correlation of severity and plasma atypical deoxy-sphyngoid bases (2012) (6)
- Copper deficiency as a treatable cause of poor balance (2010) (6)
- Genetic pain loss disorders (2022) (6)
- Semi‐dominant mutations in MFN2‐related neuropathy and implications for genetic counselling (2016) (6)
- Mutation of the sterol 27-hydroxylase gene (CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis (2002) (6)
- Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects (2021) (6)
- Optineurin mutations in Japanese amyotrophic lateral sclerosis (2012) (5)
- Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies (2020) (5)
- 2017 Peripheral Nerve Society Meeting July 8–12, 2017 Sitges, Barcelona, Spain (2017) (5)
- Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UK (2022) (5)
- IVIg-exposure and thromboembolic event risk: findings from the UK Biobank (2022) (5)
- Contactin-1 Antibodies Link Autoimmune Neuropathies to Nephrotic Syndrome (2020) (5)
- Humans: the ultimate animal models (2020) (5)
- Leprosy in a patient infected with HIV (2016) (5)
- 2018 Peripheral Nerve Society Annual Meeting 21‐25 July, 2018 Baltimore, Maryland (2018) (5)
- Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (2019) (5)
- Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre (2019) (5)
- NEFL‐related Charcot–Marie–Tooth disease: An unraveling story (2009) (5)
- Professor P. K. Thomas: clinician, investigator, editor and leader--a retrospective appreciation. (2011) (4)
- Routine blood monitoring in maintenance immunoglobulin treatment of inflammatory neuropathy: Is it clinically relevant? (2020) (4)
- Inherited neuropathies (1994) (4)
- P44 Frequency and circumstances of falls for adults with Charcot-Marie-Tooth disease (2011) (4)
- A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease (2020) (4)
- PHENOTYPE-GENOTYPE CHARACTERISTICS AND BASELINE NATURAL HISTORY OF HERITABLE NEUROPATHIES CAUSED BY MUTATIONS IN THE MYELIN PROTEIN ZERO GENE (2015) (4)
- RAISED VEGF: USEFULNESS IN THE DIAGNOSIS OF POEMS SYNDROME (2014) (4)
- Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature (2021) (4)
- MRI quantifies lumbosacral nerve root and sciatic nerve hypertrophy in chronic inflammatory demyelinating polyradiculoneuropathy. (2020) (4)
- P52 A novel p.glu175x premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2 (2012) (4)
- Clinical, pathological and functional characterization of riboflavin-responsive neuropathy (2017) (4)
- Early detection of nerve injury in transthyretin-related familial amyloid polyneuropathy. (2015) (4)
- Blood biomarkers of peripheral neuropathy (2022) (4)
- A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. (2021) (4)
- Severe cognitive impairment in a patient with CMT2A (2018) (3)
- Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation (2015) (3)
- O13 Skeletal muscle MRI-determined fat fraction and myometric strength in inclusion body myositis and Charcot-Marie-Tooth disease Type 1A (2011) (3)
- 1042 Hereditary sensory and autonomic neuropathy type 1: correlation of severity and plasma atypical deoxy-sphyngoid bases (2011) (3)
- A COMPOUND HETEROZYGOUS MUTATION IN THE VACCINIA RELATED KINASE-1 GENE IS A CAUSE OF HEREDITARY MOTOR NEUROPATHY WITH UPPER MOTOR NEURON SIGNS (2016) (3)
- 1700 MRI quantification of lower limb muscle fatty atrophy: a potential outcome measure in chronic neuromuscular diseases (2012) (3)
- Association of British Neurologists: UK neurology workforce survey (2020) (3)
- MEASURING THE UNMEASURABLE: MRI QUANTIFICATION OF DISEASE PROGRESSION IN CMT1A OVER 12 MONTHS (2013) (3)
- PSYCHOMETRIC EVALUATION OF CHARCOT-MARIE-TOOTH DISEASE (CMT) NEUROPATHY SCORE (CMTNS) VERSION 2.0 USING RASCH ANALYSIS (2013) (3)
- Severe Dejerine‐Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion (2012) (3)
- P67 MFN2 mutations cause compensatory mitochondrial DNA proliferation (2012) (3)
- Dramatic clinical response to ultra-high dose IVIg in otherwise treatment resistant inflammatory neuropathies (2020) (3)
- Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS (2020) (3)
- Falls In Adults With Charcot-marie-tooth Disease (2011) (3)
- TREATMENT OF SCABIES WITH THE SO-CALLED DANISH METHOD (1937) (3)
- EMERGENCY NEUROMUSCULAR ADMISSIONS ARE AVOIDABLE: A REGIONAL AUDIT OF UNPLANNED HOSPITAL ADMISSIONS OF NEUROMUSCULAR PATIENTS 2009–2011: FINAL RESULTS AND RECOMMENDATIONS (2013) (3)
- CNS phenotype in X linked Charcot- Marie-Tooth disease (2018) (3)
- Ulcero-mutilating neuropathy: Clinical, pathological and molecular genetic study of a family with a novel RAB7 mutation (2004) (2)
- Neurogenic arthrogryposis and the power of phenotyping (2021) (2)
- Untreatable genetic disorders: to test or not to test (2016) (2)
- Reliability and validity of the CMT neuropathy score as a measure of disability. Authors' reply (2006) (2)
- Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 ‐ implications for retinal screening in HSN1 (2022) (2)
- Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease (2022) (2)
- Isolated motor conduction block associated with infliximab (2012) (2)
- A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres (2020) (2)
- Nerve and Muscle Disease (2009) (2)
- Obstructive sleep apnoea, restless leg syndrome and Charcot-Marie-Tooth disease type 1: important associations (2013) (2)
- Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (2020) (2)
- Sequential and intermittent docetaxel (D) and imatinib (Im) in hormone-refractory prostate cancer patients (NYU 04-47). (2009) (2)
- The Babinski sign. (2011) (2)
- Whole-genome sequencing of a sporadic primary immunodeficiency cohort (2020) (2)
- Molecular genetics of inherited neuropathies (1995) (2)
- Charcot neuroarthropathy in patients with Charcot Marie Tooth Disease. (2020) (2)
- Adjuvant chemotherapy in primary treatment of breast cancer. (1969) (2)
- Axonal degeneration in Guillain-Barré syndrome (2007) (2)
- Charcot-Marie-Tooth disease. A practical guide (2001) (2)
- Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A (2022) (1)
- MUTATIONS IN THE HSP27 GENE CAUSE DOMINANT, RECESSIVE AND SPORADIC DISTAL HMN/CMT TYPE 2 (2009) (1)
- Unusual upper limb features in SORD neuropathy (2022) (1)
- N.I.1 Inherited peripheral neuropathies: A clinical roadmap (2006) (1)
- ACCURATE SLICE SELECTION IMPROVES RESPONSIVENESS OF QUANTITATIVE LOWER LIMB MUSCLE MRI IN CMT1A PATIENTS (2015) (1)
- P54 Comparing activity levels between people with Charcot–Marie– Tooth disease and healthy controls – a pilot study (2010) (1)
- NORMATIVE AEROBIC EXERCISE VALUES IN CMT (2016) (1)
- A painful right leg (2011) (1)
- Strengthening hip flexors to improve walking distance in people with Charcot-Marie-Tooth disease (2012) (1)
- Erratum—Refsum's disease (2001) (1)
- Differences in nerve excitability properties across upper limb sensory and motor axons (2021) (1)
- P50 Genetic dysfunction of MT-ATP6 can cause axonal Charcot-Marie-Tooth disease (2012) (1)
- THE CHARCOT-MARIE-TOOTH (CMT) DISEASE INFANT-TODDLER SCALE: DEVELOPING SCORING SYSTEM AND PILOT STUDY TESTING THE ABILITY OF THE SCALE TO ASSESS DISEASE SEVERITY IN INFANTS, TODDLERS AND SEVERELY AFFECTED CHILDREN WITH CMT (2013) (1)
- Exploring the causes of falls and balance impairments in people with Charcot-Marie Tooth disease (2015) (1)
- VALIDATION OF THE PEDIATRIC CMT QUALITY OF LIFE (PCMT-QOL) OUTCOME MEASURE: PRELIMINARY RESULTS FROM THE INHERITED NEUROPATHY CONSORTIUM (2013) (1)
- PN04 Functional validation of non-coding variants of GJB1 in patients with CMTX1 (2017) (1)
- HEREDITARY SENSORY NEUROPATHY TYPE 1: A NATURAL HISTORY STUDY (2013) (1)
- A pilot randomised controlled trial of methotrexate for chronic inflammatory demyelinating polyradiculoneuropathy (RMC trial: rationale and protocol) (2007) (1)
- Retinal changes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and other genetic ataxias (2012) (1)
- Validation of the Charcot-Marie-Tooth Pediatric Scale as an Outcome Measure of Disability (P05.142) (2012) (1)
- Musclesense: a Trained, Artificial Neural Network for the Anatomical Segmentation of Lower Limb Magnetic Resonance Images in Neuromuscular Diseases (2020) (1)
- Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) (2011) (1)
- SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement (2016) (1)
- STRENGTHENING HIPS FLEXORS TO IMPROVE WALKING DISTANCE IN PEOPLE WITH CHARCOT-MARIE-TOOTH DISEASE (2011) (1)
- Dynamic balance : relating functional reach tests to falls and impairment (2016) (1)
- Hereditary Amyloid Neuropathy (2005) (1)
- Novel muscle fat-fraction MRI metrics for quantifying neuromuscular pathology (2012) (1)
- Paraneoplastic CIDP associated with transitional cell carcinoma: A case report and review of the literature (2006) (1)
- 002 Detecting retinal changes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) using optical coherence tomography (OCT) (2012) (1)
- O14 Magnetic resonance imaging in the non-dystrophic myotonias (2011) (1)
- Axonal markers (neurofilaments) predict outcome in Guillain-Barre syndrome (2005) (1)
- CHARCOT-MARIE-TOOTH TYPE 4C CAUSED BY MUTATION OF KIAA1985 GENE: REPORT OF 5 FAMILIES WITH VARIABLE PHENOTYPE (2009) (1)
- Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (2020) (1)
- MRI QUANTIFICATION OF INTRAMUSCULAR FAT ACCUMULATION IN CMT1A: FOUR YEAR FOLLOW UP DATA (2017) (1)
- Cardiopulmonary exercise performance and factors associated with aerobic capacity in neuromuscular diseases (2021) (1)
- Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease (2021) (1)
- P94 Novel muscle fat-fraction MRI metrics for quantifying neuromuscular pathology (2012) (1)
- Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception (2015) (1)
- Cervical spinal cord compression complicating the clinical course of Charcot-Marie-Tooth type 1 (2015) (1)
- Subcutaneous immunoglobulin dose titration to clinical response in inflammatory neuropathy (2021) (1)
- A prospective study on surgical management of foot deformities in Charcot Marie tooth disease (2021) (1)
- Bortezomib-induced inflammatory neuropathy (vol 15, pg 366, 2010) (2011) (1)
- Peripheral Neuropathy A Practical Approach to Diagnosis and Management Didier Cros (Eds); Lippincott Williams & Wilkins, Philadelphia, PA, 2001, 432 pages, ISBN 0-397-51781-5 (£73) (2004) (1)
- Evaluating the benefits of community based aerobic training on the physical health and well-being of people with neuromuscular disease (2016) (1)
- P76 MRI shows increased tibial nerve size in CMT1A (2011) (1)
- vCMTES: A Validated Virtual Evaluation for People with Charcot-Marie-Tooth Disease (2022) (1)
- 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 (2020) (1)
- GENOME-WIDE ASSOCIATION STUDY IDENTIFIES POTENTIAL GENETIC MODIFIERS IN CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (2016) (1)
- TWO YEAR NATURAL HISTORY OF DISEASE PROGRESSION IN CHILDHOOD CHARCOT-MARIE-TOOTH DISEASE (2013) (1)
- Plasma proteome analysis of patients with hereditary transthyretin-mediated (hATTR) amyloidosis establishes neurofilament light chain (NfL) as a biomarker of disease and treatment response (2019) (1)
- OD14 Neuro-muscular bridges: development of an evidence based selfmanagement resource for people with neuro-muscular diseases (2018) (1)
- 2009 PERIPHERAL NERVE SOCIETY MEETING Charcot-Marie-Tooth disease (2011) (1)
- Severe distinct dysautonomia in RFC1 ‐related disease associated with Parkinsonism (2022) (1)
- A diagnostic conundrum (2018) (1)
- Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation (2015) (1)
- RAISED VEGF: ITS USEFULNESS IN THE DIAGNOSIS OF POEMS SYNDROME (2014) (1)
- A novel pathogenic mutation of the transthyretin gene (2007) (0)
- PROXIMAL COMPENSATION FOR DISTAL WEAKNESS: COMPARISON OF SUBJECTS WITH CHARCOT-MARIE-TOOTH DISEASE AND HEALTHY SUBJECTS WITH EXERCISE INDUCED WEAKNESS (2009) (0)
- Peripheral neuropathy in mitochondrial disease. (2023) (0)
- Clinical spectrum, treatment and outcome of children with chronic inflammatory demyelinating polyneuropathy (2017) (0)
- 15.45 Recessive pentanucleotide repeat expansion in RFC1 causes CANVAS and late-onset sensory ataxia (2019) (0)
- Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (2019) (0)
- Osteonecrosis of the jaw. (2008) (0)
- Autosomal dominant and recessive distal hereditary motor neuropathy caused by mutations in the heat shock protein 27 (2007) (0)
- P.170 The effect of orthosis and foot surgery in a cohort of Charcot-Marie-Tooth disease children (2017) (0)
- A WINDOW INTO MOTOR NEURON DEVELOPMENT: WHOLE EXOME SEQUENCING OF DOMINANT CONGENITAL SPINAL MUSCULAR ATROPHY (DCSMA) (2013) (0)
- P58 Anti-MA2 associated paraneoplastic myelo-radiculopathy (2010) (0)
- THE MRC CENTRE FOR NEUROMUSCULAR DISEASES OBSERVATIONAL COHORTS: A TOOL TO TRANSLATE DISCOVERY SCIENCE INTO TREATMENTS FOR PATIENTS (2017) (0)
- UPDATE - INHERITED NEUROPATHIES CONSORTIUM (2011) (0)
- Pregnancy and delivery in patients with Charcot–Marie–Tooth disease and related disorders (2022) (0)
- Aggregates of Mutant DNMT1 Are Linked to a Spectrum of Neurological Disorders (S34.007) (2015) (0)
- PN09 Hereditory Sensory Neuropathy Type 1 (SPTLC1): phenotypic variation in patients with the English founder mutation (2017) (0)
- SENSITIVITY TO CHANGE OF CLINICAL OUTCOME MEASURES IN CHARCOT-MARIE-TOOTH DISEASE (2011) (0)
- 88 The relationship between upper and lower limb function in a cohort of children with Charcot-Marie-tooth disease (2020) (0)
- Pediatric Charcot–Marie–Tooth Disease Quality of Life Measure (2021) (0)
- The Clinical Spectrum of Anti-MAG Neuropathies at the National Hospital for Neurology (S58.006) (2013) (0)
- SURVEY OF PREGNANCY IN CHARCOT MARIE TOOTH DISEASE PATIENTS (2016) (0)
- OD18 Evaluating the benefits of community based aerobic training on the physical health and well-being of people with neuromuscular disease (2017) (0)
- CRYPTIC AMYLOIDOGENIC ELEMENTS IN THE 3 ' UTR OF THE NEUROFILAMENT HEAVY GENE TRIGGER CHARCOT-MARIE-TOOTH DISEASE (2016) (0)
- POC11 Multiple radiculopathies and cranial nerve palsies in association with chronic lymphocytic leukaemia and lupus anti-coagulant treated with rituximab (2010) (0)
- Correcting RF Inhomogeneities in Skeletal Muscle Magnetization Transfer Maps (2010) (0)
- P63 C-Jun expression in human neuropathies: a pilot study (2010) (0)
- Functional and symptomatic risk factors for falls for people with neuropathy (2015) (0)
- P36 TRPV4 mutations and functional characterisation in a cohort of patients with hereditary neuropathy (2011) (0)
- P77 Improved magnetization transfer MRI of skeletal muscle in myopathy and neuropathy (2011) (0)
- Incidence and risk factors for patellofemoral dislocation in adults with Charcot-Marie-Tooth disease: An observational study. (2023) (0)
- Giant axonal neuropathy is caused by mutations in the gigaxonin gene: Clinical, genetic, and pathological characterisation of three families (2002) (0)
- REPORT A M (cid:2) aori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele (2020) (0)
- RFC1 CANVAS: the expanding phenotype (2021) (0)
- Genetic testing in inherited neuropathies: what and when to test (2015) (0)
- Orthopaedic complications in Charcot-Marie-Tooth disease : results of a prospective study (2016) (0)
- NATURAL HISTORY BASELINE PHENOTYPE AND GENOTYPE OF HEREDITARY MOTOR SENSORY PERIPHERAL NEUROPATHIES CAUSED BY MUTATION IN THE MYELIN PROTEIN ZERO (2013) (0)
- Manifesting carriers and genetic heterogeneity in giant axonal neuropathy (2005) (0)
- Genetic analysis of the mutilated foot (mf) rat: an animal model for human hereditary sensory neuropathy. (2001) (0)
- 237 SLC25A46 mutations cause a spectrum of disorders including CMT2 with optic atrophy (2019) (0)
- QUALITATIVE LOWER LIMB MUSCLE MRI IN CMT1A DEMONSTRATES LENGTH-DEPENDENT FATTY INFILTRATION (2014) (0)
- CHARCOT-MARIE-TOOTH DISEASE TYPE-2 ASSOCIATED WITH TWO MISSENSE MUTATIONS IN MME GENE (2017) (0)
- 238 Usefulness of concomitant peripheral nerve and muscle biopsy (2019) (0)
- Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathy (2022) (0)
- FC 030CONTACTIN-1 IS A NOVEL ANTIGEN IN IDIOPATHIC MEMBRANOUS GLOMERULONEPHRITIS AND IN CIDP- ASSOCIATED GLOMERULONEPHRITIS (2021) (0)
- P43 Mutations of the kinesin family member 5A (KIF5A) gene in patients with pure or complex Charcot-Marie-Tooth type 2 (CMT2) (2012) (0)
- P45 Referral patterns to a specialised peripheral neuropathy clinic (2012) (0)
- CHARCOT-MARIE-TOOTH TYPE 4C CAUSED BY MUTATION OF THE KIAA1985 GENE: REPORT OF SIX FAMILIES WITH VARIABLE PHENOTYPE (2009) (0)
- PN08 Quantification of intramuscular fat accumulation in CMT1A using MRI: an international longitudinal study (2016) (0)
- THE PHENOTYPIC GENETIC SPECTRUM OF PATIENTS WITH MUTATIONS IN CYTOPLASMIC DYNEIN HEAVY CHAIN 1 (DYNC1H1) (2013) (0)
- Development and Validation of the Pediatric CMT Quality of Life Outcome Measure (2020) (0)
- The Charcot-Marie-Tooth (CMT) Infant Scale: A Pilot Study Testing the Ability of the Scale To Monitor Disease Progression in Infant and Children Younger Than Three Years Old (S26.006) (2013) (0)
- P53 Identifying responsive outcome measures in hereditary sensory neuropathy type 1 (HSN1) (2014) (0)
- Gene Identification in Axonopathies by Applying Massive Whole Exome Sequencing (S27.005) (2012) (0)
- PO202 Natural history study in hereditary sensory neuropathy type 1 (2017) (0)
- Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study (2022) (0)
- A Woman with Burning Hands (2017) (0)
- 086 Clinical, investigational and treatment factors do not determine prognosis of patients with inflammatory neuropathies (2019) (0)
- 121 ARSACS: a novel phenotype causing peripheral neuropathy, ataxia and spasticity with supranuclear gaze palsy, myoclonus and epilepsy (2012) (0)
- Survey of current management of orthopaedic complications in Charcot-Marie-Tooth Disease (2015) (0)
- LOWER LIMB MRI-DETERMINED FAT FRACTION IS HIGHLY RESPONSIVE OVER 12 MONTHS IN PATIENTS WITH HEREDITARY SENSORY NEUROPATHY TYPE 1 (2016) (0)
- Extracapsular Nodal Extension Predicts Death and Recurrence in Merkel Cell Carcinoma (MCC) (2018) (0)
- Progressive Motor Weakness in a Somalian Man (2017) (0)
- P45 A clinical study of the hereditary neuropathies due to mutations in the small heat shock proteins (2011) (0)
- PN13 In vitro models of Charcot-Marie-Tooth disease for investigating disease pathomechanisms (2017) (0)
- PREDOMINANTLY MOTOR CMT2B ASSOCIATED WITH A NOVEL PATHOGENIC RAB7 MUTATION (2017) (0)
- BASELINE DATA ANALYSIS OF NATURAL HISTORY STUDY IN HEREDITARY SENSORY NEUROPATHY TYPE 1 (HSN1) SECONDARY TO SPTLC1/2 MUTATIONS (2015) (0)
- PN10 Do diverse Charcot-Marie-Tooth disease-causing mutations show convergent disease pathomechanisms? Investigation of mitochondrial dysfunction in CMT (2018) (0)
- Rituximab responsive multiple radiculopathies and cranial nerve palsies in association with chronic lymphocytic leukaemia (2012) (0)
- Hereditary motor and sensory neuropathy type II with prominent sensory complications: a genetic and neuropathological study in a four generation kindred (2000) (0)
- P41 Genetic mutation frequency in patients with hereditary sensory and autonomic neuropathies (HSAN) (2011) (0)
- PO201 A survey on employment in charcot-marie-tooth disease in UK (2017) (0)
- 1 Diagnosis of Amyloid Neuropathy (2019) (0)
- Biallelic Expansion of an intronic Repeat in the RFC1 Gene is a common cause 1 of Late-Onset Ataxia 2 (2020) (0)
- Neuromuscular disease: muscle (2000) (0)
- Paraneoplastic vasculitic neuropathy: A report of 2 cases (2005) (0)
- QUANTITATIVE MAGNETIC RESONANCE IMAGING OF MUSCLE IN CHARCOT-MARIE-TOOTH DISEASE 1A-A POTENTIAL OUTCOME MEASURE (2011) (0)
- Grand rounds: a precious resource to be nurtured (2020) (0)
- Case Study: Osteonecrosis of the Jaw (2008) (0)
- The cytosolic chaperonin containing T-complex polypeptide 1 gene (CCT4) is mutated in the mutilated foot rat (MF), an animal model for human hereditary sensory neuropathy (2002) (0)
- Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease (2022) (0)
- RATE OF PROGRESSION IN PEDIATRIC CHARCOT-MARIE-TOOTH DISEASE (2017) (0)
- Walking endurance and proximal compensation for distal weakness in Charcot Marie Tooth disease (2007) (0)
- A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease (2020) (0)
- ISOMETRIC AND ISOKINETIC LOWER LIMB STRENGTH IN CHARCOT-MARIE-TOOTH DISEASE 1A (2011) (0)
- PERINEURIOMA OF SCIATIC NERVE: REPORT OF TWO CASES (2009) (0)
- Mutations in mitofusion 2 are a common cause of CMT2 (2007) (0)
- PLASMA NEUROFILAMENT HEAVY CHAIN LEVELS IN CHARCOT-MARIE-TOOTH DISEASE (2015) (0)
- Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity (2015) (0)
- 15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder (2019) (0)
- THE NEFL MUTATION N98S CAUSES SEVERE, EARLY-ONSET CHARCOT-MARIE-TOOTH DISEASE TYPE 1 WITH DEAFNESS AND CEREBELLAR FEATURES (2015) (0)
- A Man with a Pacemaker Develops Difficulty Walking (2017) (0)
- A Functional Dnmt3b Polymorphism is Associated with Suicide Attempt in Psychiatric Patients (2012) (0)
- Investigating genotype–phenotype relationship of extreme neuropathic pain disorders in a UK national cohort (2023) (0)
- Clinical approach to the diagnosis of Charcot-Marie-Tooth disease (2005) (0)
- 101 Neuromuscular MRI in assessment of variants of unknown significance in inherited neuropathy and associated disorders (2022) (0)
- PN05 Clinical features and genetic findings in patients with Charcot Marie Tooth Disease Type 2 (CMT2) due to LRSAM1 mutation (2017) (0)
- IMPACT OF VISUAL INPUT ON BALANCE IN CHILDREN WITH CHARCOT-MARIE-TOOTH DISEASE (2016) (0)
- Neurology and the histiocytoses: a case of Rosai-Dorfman-Destombes disease (2022) (0)
- CHARACTERISATION OF SH3TC2, A PROTEIN ASSOCIATED WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 4C (2009) (0)
- VALIDATION OF AN ACTIVITY SCALE IN PEDIATRIC CMT (2013) (0)
- PN09 Plasma neurofilament light chain levels are raised in patients with inherited peripheral neuropathy and correlate with disease severity (2018) (0)
- OPTIMISING THE IVIG SERVICE: AN AUDIT OF MONITORING AND DOSAGE (2016) (0)
- Corrigendum to Routine blood monitoring in maintenance Immunoglobulin treatment of inflammatory neuropathy: Is it clinically relevant? [Journal of the Neurological Sciences 408 (2020) 116527] (2020) (0)
- PAIN AND SMALL FIBRE FUNCTION IN CMT 1A: PRELIMINARY RESULTS (2009) (0)
- Evaluating the benefits of community based aerobic training on the physical health and well-being of people with Charcot-Marie-Tooth disease type 1A (2016) (0)
- Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease (2006) (0)
- P52 Exploring the experience of living with fatigue in people with Charcot–Marie–Tooth disease–aqualitative study (2010) (0)
- W8 Inherited neuropathy (2006) (0)
- Neuropathy in Human and Mice with PMP22 null (2013) (0)
- Early Onset Neuropathy of Mitochondrial Neurogastrointestinal Encephalomyopathy Mimicking Chronic Inflammatory Demyelinating Polyneuropathy in Childhood (2009) (0)
- A Man with Painful Feet and Hand Ulcers (2017) (0)
- A NOVEL PATHOGENIC RAB7 MUTATION CAUSING PREDOMINANTLY MOTOR CMT2B (2016) (0)
- Anepidemiological study ofWilson's disease in theRepublic ofIreland (1993) (0)
- Evidence of nerve hypertrophy in patients with inclusion body myositis on lower limb MRI (2022) (0)
- Do congenital neuropathies help in understanding the mechanisms of neuropathic pain (2005) (0)
- Diagnosis and Management of Peripheral Nerve Disorders Mendell JR, Kissel JT, Cornblath DR. Oxford University Press, Oxford, 2001. ISBN 0-19-513301-3, 695 pp. Price £110.00 (2002) (0)
- The experience of falls and balance impairment for people with Charcot-Marie-Tooth disease (2017) (0)
- MUTATIONS IN HSPB8 CAUSING AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY AND MYOFIBRILLAR MYOPATHY: REPORT OF A NOVEL FAMILY (2016) (0)
- SPINAL STENOSIS IN FAMILIAL TRANSTHYRETIN AMYLOIDOSIS (2015) (0)
- ASSESSMENT OF PRECISION GRIP AND HAND FUNCTION IN CMT1A: CONTRIBUTION OF SENSORY AND MOTOR DEFICITS (2013) (0)
- Authors' response to Rahman and Fontes (2013) (0)
- Peer Review Status: Peer reviewed Citation for item: (2012) (0)
- Virtual Charcot-Marie-Tooth Examination Score (2022) (0)
- Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis (2021) (0)
- Natural History Baseline of Hereditary Motor Sensory Peripheral Neuropathies That Caused by Mutations in the Myelin Protein Zero (S26.004) (2013) (0)
- FINGOLIMOD IN TREATMENT REFRACTORY CIDP: A CASE REPORT (2016) (0)
- PN08 Frequency of genetic variants in Charcot-Marie-Tooth disease: how many is too many? (2018) (0)
- P59 A novel mutation in the nerve-specific 5 UTR of the Cx32 gene causing CMTX1 (2010) (0)
- P51 Neuropathy phenotype in hereditary transthyretin amyloidosis (2014) (0)
- PN10 Monitoring pregnancy in Charcot-Marie-Tooth disease: results of a survey (2017) (0)
- A Man with Episodes of Shoulder Pain and a Weak Arm (2017) (0)
- An unusual cause of speech and swallowing diffi culty (2003) (0)
- PN02 Preliminary data from a survey looking at walking aid use in people with Charcot-Marie-Tooth disease (2018) (0)
- DIAGNOSTIC YIELD OF A 6000 DISEASE-ASSOCIATED GENE FOCUSED EXOME IN CMT AND COMPLEX NEUROPATHY CASES: AN EXPLORATORY STUDY (2017) (0)
- Inherited peripheral neuropathies: A clinical roadmap (2006) (0)
- P44 Variation in the disability in males of similar age with CMT1X (2012) (0)
- RATE OF CHARCOT-MARIE-TOOTH DISEASE PROGRESSION DURING CHILDHOOD (2015) (0)
- P38 Charcot-Marie-Tooth disease and related disorders: a natural history study (2011) (0)
- Wisdom tooth extraction causing lingual nerve and styloglossus muscle damage: a mimic of multiple cranial nerve palsies (2017) (0)
- Validation of the Parent-Proxy Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure. (2023) (0)
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- MRI QUANTIFICATION OF FAT GRADIENTS IN CALF MUSCLES IN CMT1A (2014) (0)
- Charcot-Marie-Tooth disease. A practical guide (2001) (0)
- Genetic linkage analysis in hereditary motor and sensory neuropathy type II: a five generation kindred with prominent sensory complication (1999) (0)
- P93 MRI quantification of abnormal muscle water distribution in chronic neuromuscular diseases: a sensitive biomarker (2012) (0)
- A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY (2016) (0)
- P84 Colchicine myopathy: Pathological analysis of a case with novel findings (2012) (0)
- A Clinical Study of the Distal Hereditary Motor Neuropathies (2012) (0)
- P48 Genetic and functional investigation of Brown-Vialetto-Van Laere syndrome and related neuropathies (2012) (0)
- P62 Characterisation of novel mutations within HSP27 causing Charcot–Marie–Tooth disease 2F and distal hereditary motor neuropathy II (2010) (0)
- HEREDITARY NEUROPATHIES & ALS P.117 The relationship between upper and lower limb function in a cohort of children with Charcot-Marie-Tooth (CMT) disease (2020) (0)
- PN14 Monitoring pregnancy in Charcot-Marie-Tooth disease: complications related to pregnancy and delivery (2018) (0)
- A DYNC1H1 mutation in autosomal dominant spinal muscular atrophy shows the potential of pharmacological inhibition of histone deacetylase 6 as a treatment for disease associated cellular phenotypes (2016) (0)
- Sensory neuronopathy associated with cholangiocarcinoma diagnosed 6 years after symptom onset (2017) (0)
- Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy (2020) (0)
- Mitochondrial impairment and rescue in riboflavin responsive neuropathy (2017) (0)
- P49 Clinical, neuropathological and radiological evidence for a rare complication of rituximab therapy (2012) (0)
- P41 Genetic analysis of FIG4 in patients with CMT (2012) (0)
- A CLINICAL AND GENETIC STUDY OF THE DISTAL HEREDITARY MOTOR NEUROPATHIES (2013) (0)
- FOOT AND ANKLE SYMMETRY IN CHARCOT-MARIE-TOOTH DISEASE (2011) (0)
- 127 ACTA1 associated myopathy with neurogenic EMG changes (2022) (0)
- PN07 Genetic investigation of inherited neuropathy in families from Middle East using next generation sequencing (2018) (0)
- P60 Variable severity of early onset CMT2 with compound heterozygous MFN2 mutations (2010) (0)
- Patient and public involvement : how service user engagement has informed research into falls intervention in people with Charcot-Marie-Tooth disease (2016) (0)
- GJB1 gene mutations in suspected inflammatory neuropathies not responding to treatment: Report of 3 cases (2008) (0)
- Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (2022) (0)
- MUTATIONS IN THE FRABIN GENE CAN CAUSE A VARIABLE PHENOTYPE AND LEAD TO PROTEIN TRUNCATION (2009) (0)
- Reply from the authors [6] (2006) (0)
- PN05 Comparison of clinical factors that impact disease activity in patients with inflammatory neuropathies (2018) (0)
- P54 A dominant negative mutation in FBXO38 is a cause of distal hereditary motor neuropathy (dHMN) (2014) (0)
- A NATURAL HISTORY STUDY OF CMT2 AND DHMN DUE TO MUTATIONS IN HSPB1 (2015) (0)
- AXONAL TRANSPORT DEFICITS AND INCREASED VULNERABILITY TO OXIDATIVE STRESS IN MUTANT HSPB1 (HSP27)-INDUCED DISTAL HEREDITARY MOTOR NEUROPATHIES (2013) (0)
- Point mutations in PMP22 are rare causes of hereditary neuropathy with liability to pressure palsies (2002) (0)
- WEIGHT LOSS, ENCEPHALOPATHY, URINARY DIFFICULTIES AND NUMB FEET IN A NIGERIAN MAN (2013) (0)
- Connexin 32 mutation presenting with monomelic multifocal neuropathy with conduction block (2007) (0)
- King’s College London Neuromuscular Disease Symposium, November 2002 - An Unusual Cause of Speech and Swallowing Difficulty (2003) (0)
- French patients with amyloid neuropathy . Transthyretin gene mutations in British and (0)
- POEMS Syndrome: Demographics and Outcomes in a United Kingdom Cohort (2016) (0)
- Neuropathy due to bi-allelic SH3TC2 variants: Genotype-phenotype correlation and natural history. (2023) (0)
- PONM16 Unusual surgery for progressive finger-drop (2010) (0)
- PN02 A Homozygous Reticulon 2 mutation is a cause of DHMN with pyramidal signs (2016) (0)
- DIASTEMATOMYELIA: AN UNUSUAL FORM OF OCCULT SPINAL DYSRAPHISM PRESENTING AS A MOTOR NEUROPATHY WITH SMALL FIBRE DYSFUNCTION: CLINICAL-NEUROPHYSIOLOGICAL CORRELATE (2009) (0)
- Genetic study of the mutilated foot rat, an animal model for human hereditary sensory neuropathy (2001) (0)
- A Novel Prion Disease Presenting with Diarrhea and Autonomic Neuropathy (2013) (0)
- A novel phenotype associated with deficiency of mitochondrial complex IV activity (2007) (0)
- FM1-4 Intraneural perineuriomas: radiologically classic, clinically varied (2019) (0)
- 3Tesla gradient-echo 3-point Dixon imaging for robust water-only imaging of the extra-ocular muscles (2010) (0)
- ASSESSMENT OF FUNCTIONAL IMPAIRMENTS IN CELLULAR MODELS OF MUTANT HSPB1 INDUCED NEUROPATHIES (2011) (0)
- Subacute inflammatory demyelinating polyneuropathy following primary varicella zoster virus infection (2007) (0)
- Reply to Iwasaki et al (2020) (0)
- A Woman Who Could Not Wear High Heels (2017) (0)
- HETEROGENEITY OF CHARCOT-MARIE-TOOTH DISEASE SEVERITY DURING CHILDHOOD (2015) (0)
- NEUROPATHY PHENOTYPE IN HEREDITARY TRANSTHYRETIN AMYLOIDOSIS (2014) (0)
- P43 Genetic modifying factors for the common form of CMT1A due to the chromosome 17 duplication and other causes of CMT1 in non-CMT1A patients (2011) (0)
- P56 Whole-exome sequencing in patients with sensory and motor inherited neuropathies (2014) (0)
- Management of the orthopaedic complications in Charcot-Marie-Tooth Disease patients (2015) (0)
- 15.21 Next-generation sequencing in charcot-marie-tooth disease: opportunities and challenges (2019) (0)
- Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. (2021) (0)
- CAN'T RAISE ONE EYE BROW: DOES IT RING ANY NORWEGIAN BELLS? (2016) (0)
- OPTIMISING IVIG DELIVERY IN A TERTIARY NEUROLOGY CENTRE (2016) (0)
- HUMAN IPSC-DERIVED SENSORY NEURON MODEL OF HEREDITARY SENSORY NEUROPATHY TYPE 1 (HSN1) (2017) (0)
- P64 Genes for hereditary sensory and autonomic neuropathies: frequency in a UK series and genotype-phenotype correlations (2010) (0)
- Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing (2022) (0)
- IMPACT OF FOOT ALIGNMENT IN PEDIATRIC CHARCOT-MARIE-TOOTH DISEASE (2016) (0)
- MANAGING ORTHOPAEDIC COMPLICATIONS IN CHARCOT MARIE TOOTH DISEASE (2016) (0)
- POG11 A novel mutation in the nerve-specific 5′-UTR of the Cx32 gene causing CMTX1 (2010) (0)
- Muscle “islands”: An MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness (2021) (0)
- GENOTYPE-PHENOTYPE CHARACTERISTICS AND BASELINE NATURAL HISTORY OF CMT2A CAUSED BY MUTATIONS IN THE MFN2 GENE (2016) (0)
- P46 Clinical and genetic characterisation of hereditary sensory neuropathy type 1 caused by mutations in SPTLC2 (2012) (0)
- CELLULAR PATHOMECHANISMS OF HEREDITARY SENSORY NEUROPATHY TYPE 1 (HSN-1) IN MAMMALIAN MOTOR NEURONS (2015) (0)
- A MULTIDISCIPLINARY APPROACH TO MONITOR PREGNANCY IN CHARCOT-MARIE-TOOTH DISEASE (2016) (0)
- P90 Magnetic resonance imaging and sciatic nerve cross-sectional area in inherited and inflammatory neuropathies (2010) (0)
- RARE CODING VARIANTS IN THE MME GENE, ENCODING THE METALLOPROTEASE NEPRILYSIN, ARE LINKED TO LATE-ONSET AXONAL NEUROPATHIES (2016) (0)
- Exploring the experience of living with fatigue in people with Charcot-Marie-Tooth disease (2010) (0)
- Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project (2020) (0)
- ACCURATE SLICE SELECTION IMPROVES RESPONSIVENESS OF LOWER LIMB MRI DETERMINED FAT FRACTION IN CMT1A PATIENTS (2015) (0)
- Tremor in Charcot Marie Tooth disease (2011) (0)
- RANDOMISED CONTROLLED TRIAL WITH ASCORBIC ACID IN CHARCOT-MARIE-TOOTH TYPE 1A: RESULTS OF THE CMT-TRIAAL/CMT-TRAUK (2011) (0)
- P39 Neurofilament light chain polypeptide gene (NEFL) mutations in autosomal dominant or sporadic Charcot-Marie-Tooth disease (2011) (0)
- P57 IGHMBP2 mutations cause recessive axonal neuropathy: Genetic and functional characterisation in seven families (2014) (0)
- MRI quantification of abnormal muscle water distribution in chronic neuromuscular diseases: a sensitive bio-marker (2012) (0)
- Classification of Charcot-Marie-Tooth disease (2004) (0)
- mitochondrial DNA? phenotype associated with multiple deletions in Distal myopathy with tubular aggregates: a new (2007) (0)
- INVESTIGATION OF RIBOFLAVIN TRANSPORTER MUTATIONS IN BROWN-VIALETTO-VAN LAERE SYNDROME, A POTENTIALLY TREATABLE METABOLIC DISEASE (2012) (0)
- Connexin 32 mutation presenting with monomelic multifocal motor neuropathy with conduction block (2007) (0)
- TDP43-DEPENDENT ALTERATION OF RNA METABOLISM IN HSPB8-RELATED AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY AND MYOFIBRILLAR MYOPATHY: A FAMILY STUDY (2016) (0)
- Neuropathology of a human autopsy of HSPB1 distal hereditary motor neuropathy-dHMN (p.Ser135Phe) and transgenic mice with mutant/wild-type HSPB1 overexpression (2016) (0)
- P42 X-inactivation pattern in females with CMTX1 (2011) (0)
- P36 Texture analysis of muscle MRI changes over 1 year (2014) (0)
- EXPLORING THE CAUSES OF FALLS AND BALANCE IMPAIRMENTS IN PEOPLE WITH NEUROMUSCULAR DISEASES (2013) (0)
- A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity (2021) (0)
- An approach to genetic neuropathy (2019) (0)
- THUR 220 To c or not to c (2018) (0)
- Sensory deprivation is associated with a mutation in the rat chaperonin delta subunit (2004) (0)
- 167 An in-vitro study of distal hereditary motor neuropathy due to homozygous HSJ1 mutations (2011) (0)
- A MISSENSE MUTATION IN THE MITOCHONDRIAL ENCODED TRNA SERINE 2 (AGY): A POTENTIAL GENETIC MODIFIER IN CMT2 (2016) (0)
- Conduction block and temporal dispersion in a SIGMAR1‐related neuropathy (2022) (0)
- P52 MFN2 deletion founder mutation in the UK population (2014) (0)
- Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (2019) (0)
- PN06 Mitochondrial dysfunction and abnormal calcium handling in cell models of Hereditary Sensory Neuropathy type I (2017) (0)
- 1030 Charcot-Marie-tooth disease: genetic diagnoses in a specialist clinic (2012) (0)
- Characterization of interacting partners of WNK1/HSN2 in hereditary neuropathy sensory and autonomous type II (HSAN2) (2011) (0)
- Application of targeted resequencing panels in genetic diagnosis of Charcot-Marie-Tooth disease (2012) (0)
- Genetics and clinical features of RFC1 CANVAS (2021) (0)
- Mitochondrial abnormalities and decreased reductive capacity in a cellular model peripheral neuropathy caused of mutant heat shock protein (Hsp) 27. (2015) (0)
- P46 Tremor in Charcot-Marie-Tooth disease (2011) (0)
- P53 Comparing gait performance of people with Charcot–Marie– Tooth disease who do and do not wear ankle foot orthoses (2010) (0)
- Update – Inherited Neuropathies Consortium (P05.144) (2012) (0)
- DETERMINANTS OF BALANCE DEFICIT IN CHILDREN WITH CHARCOT-MARIE-TOOTH DISEASE (2013) (0)
- Sequencing of the peripheral myelin protein zero (MPZ) gene in hereditary motor and sensory neuropathy (HMSN): assessment of the frequency of MPZ gene mutations in HMSN type IIII (1999) (0)
- Call for a review of services for people with neurological disorders (2015) (0)
- Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints (2023) (0)
- Two missense mutations in connexin32 (GJB1) in a CMT family (2007) (0)
- O03 High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement (2012) (0)
- Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease (2022) (0)
- Corrigendum to: A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families. (2021) (0)
- O08 Characterisation of novel mutations within heat shock protein 27 causing motor axonopathies (2011) (0)
- Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease (2021) (0)
- THE ROLE OF DEOXYSPHINGOLIPID INDUCED NEUROTOXICITY IN HEREDITARY SENSORY NEUROPATHY TYPE 1 (HSN1) SECONDARY TO SPTLC1/2 MUTATIONS (2015) (0)
- Pediatric Neuropathy Scale (CMTPed) for Charcot-Marie-Tooth Disease (CMT) (2010) (0)
- Musclesense: a Trained, Artificial Neural Network for the Anatomical Segmentation of Lower Limb Magnetic Resonance Images in Neuromuscular Diseases (2020) (0)
- PO204 Peripheral neuropathy in complex inherited diseases: an approach to diagnosis (2017) (0)
- Texture Analysis of Muscle 3-Point Dixon Fat-Fraction: Changes Over 1 Year (2014) (0)
- P61 Diverse phenotypes are associated with missense mutations in the peripheral myelin protein 22 gene (2010) (0)
- Variable severity of early onset CMT2 with compound heterozygous Mitofusin 2 mutations (2010) (0)
- Candidate skeletal muscle outcome measures for therapy trials : dependence of MRI measures upon age , gender and weight (2012) (0)
- O.10 Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP) (2013) (0)
- O05 Exome sequencing in three families with cytoplasmic body myopathy with early respiratory failure (2012) (0)
- DIAGNOSTIC CHALLENGES IN THE MOLECULAR DIAGNOSIS OF CMT IN THE ERA OF NEXT GENERATION SEQUENCING (NGS) (2017) (0)
- Tremor in immune-mediated neuropathies (2009) (0)
- A Medical Student with Episodes of Weakness and Sensory Disturbance (2017) (0)
- OD03 Translating discovery science into treatments for patients: observational cohort studies at the MRC Centre for Neuromuscular Diseases (2018) (0)
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