Michael G. Hanna

Q: What Schools Are Affiliated With Michael G. Hanna

Michael G. Hanna is affiliated with the following schools: Yale University, University of Manchester Institute of Science and Technology, University College London, University of Oxford, University of Manchester, King's College London

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Michael G. Hanna

Medical

#1681

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#2047

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Neurology

#207

World Rank

#282

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Michael G. Hanna's Degrees

PhD Neuroscience University of Oxford

Why Is Michael G. Hanna Influential?

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According to Wikipedia, Michael G Hanna is Director of the UCL Institute of Neurology, University College London and professor in clinical neurology and consultant neurologist at the National Hospital for Neurology and Neurosurgery, Queen Square, London, and also Director of the Medical Research Council Centre for Neuromuscular Disease.

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Michael G. Hanna'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

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. (1999) (410)
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel (2001) (379)
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. (1999) (333)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary (2006) (329)
International consensus outcome measures for patients with idiopathic inflammatory myopathies. Development and initial validation of myositis activity and damage indices in patients with adult onset disease. (2004) (313)
The primary periodic paralyses: diagnosis, pathogenesis and treatment. (2006) (305)
Primary episodic ataxias: diagnosis, pathogenesis and treatment. (2007) (292)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. (2006) (261)
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability (2000) (244)
MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study (2016) (232)
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. (2012) (231)
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study (2007) (189)
The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. (2010) (179)
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management (2013) (177)
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia (2004) (163)
Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. (2012) (156)
New treatments for mitochondrial disease—no time to drop our standards (2013) (155)
Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history. (2005) (154)
Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study (2013) (153)
The German version of the chronic urticaria quality‐of‐life questionnaire: factor analysis, validation, and initial clinical findings (2009) (149)
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients (2008) (148)
The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study. (1995) (143)
A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. (1999) (140)
Review of the Diagnosis and Treatment of Periodic Paralysis (2017) (138)
Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. (1998) (130)
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS (2012) (127)
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis (2009) (125)
A multicenter trial evaluation of the fibrin/fibrinogen degradation products test for detection and monitoring of bladder cancer. (1997) (123)
Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease (2010) (121)
Disease specificity of autoantibodies to cytosolic 5′-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases (2015) (118)
The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS (1999) (117)
Is the mitochondrial complex I ND5 gene a hot‐spot for MELAS causing mutations? (2003) (117)
Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups (2015) (116)
Adaptive downregulation of mitochondrial function in down syndrome. (2013) (116)
Neurological channelopathies (2005) (115)
An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. (1999) (114)
The clinical and genetic heterogeneity of paroxysmal dyskinesias (2015) (114)
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. (2007) (112)
Mitochondrial Disease: Mutations and Mechanisms (2004) (111)
Assessment of the influence of navigated transcranial magnetic stimulation on surgical planning for tumors in or near the motor cortex. (2012) (110)
PRRT2 gene mutations (2012) (106)
Prevalence study of genetically defined skeletal muscle channelopathies in England (2013) (104)
NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease (2013) (99)
Inclusion body myositis MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008 (2010) (98)
Refined exercise testing can aid dna‐based diagnosis in muscle channelopathies (2011) (96)
Targeting protein homeostasis in sporadic inclusion body myositis (2016) (95)
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. (2005) (95)
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease (2012) (93)
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy (2015) (88)
Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1. (2010) (87)
Genetic neurological channelopathies: molecular genetics and clinical phenotypes (2015) (85)
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease (2014) (85)
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches (2017) (84)
Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype (2011) (84)
A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis (2014) (81)
Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases (2009) (80)
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations (2012) (80)
Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. (1995) (80)
Neurological disorders caused by inherited ion-channel mutations (2002) (79)
Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study (2014) (79)
Episodic ataxia type 1: A neuronal potassium channelopathy (2007) (78)
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy (2010) (78)
MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity (1998) (78)
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. (2014) (78)
Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. (2010) (77)
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. (2013) (76)
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study (2000) (74)
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment (2019) (73)
Variable K+ channel subunit dysfunction in inherited mutations of KCNA1 (2002) (73)
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics (2012) (73)
Prrt2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine (2012) (72)
VPS13D bridges the ER to mitochondria and peroxisomes via Miro (2021) (72)
Correlation of clinical and molecular features in spinal bulbar muscular atrophy (2014) (71)
Longitudinal observational study of sporadic inclusion body myositis: Implications for clinical trials (2013) (69)
Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy. (2013) (69)
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. (2014) (68)
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial (2019) (68)
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation (2013) (65)
Cytosolic 5′-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis (2017) (65)
Increased risk of stroke in patients with the A12308G polymorphism in mitochondria (2000) (64)
Andersen–Tawil syndrome (2005) (63)
What causes paramyotonia in the United Kingdom? (2008) (63)
Mitochondrial ND5 Gene Variation Associated with Encephalomyopathy and Mitochondrial ATP Consumption* (2007) (62)
Human mitochondrial DNA diseases. (2001) (61)
Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups (2019) (61)
The phenomenon of disproportionate antecollis in Parkinson's disease and multiple system atrophy (2007) (60)
Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia (2004) (60)
Single deletions in mitochondrial DNA – Molecular mechanisms and disease phenotypes in clinical practice (2012) (59)
Is it really myositis? A consideration of the differential diagnosis (2004) (58)
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment (2017) (56)
Cardiolipin, Mitochondria, and Neurological Disease (2021) (56)
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study (2018) (56)
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations (2011) (56)
Novel Insights into the Pathomechanisms of Skeletal Muscle Channelopathies (2012) (56)
Muscle channelopathies: recent advances in genetics, pathophysiology and therapy. (2014) (56)
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy (2017) (55)
Reproducibility, and age, body-weight and gender dependency of candidate skeletal muscle MRI outcome measures in healthy volunteers (2014) (55)
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. (2018) (54)
Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis? (2010) (54)
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias☆ (2013) (52)
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A (2005) (51)
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing (2009) (51)
Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis (2016) (51)
In vivo assessment of HCN channel current (Ih) in human motor axons (2010) (50)
Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype. (1999) (50)
Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria (2016) (49)
Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A) (1998) (49)
MRI shows increased sciatic nerve cross sectional area in inherited and inflammatory neuropathies (2010) (49)
Absence of disturbed axonal transport in spinal and bulbar muscular atrophy. (2011) (49)
Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion (1998) (47)
Normokalemic periodic paralysis revisited: Does it exist? (2002) (47)
Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials (2016) (46)
Sodium channel gene mutations in hypokalemic periodic paralysis: An uncommon cause in the UK (2001) (46)
Update in inclusion body myositis (2013) (46)
Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms. (2000) (45)
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. (2016) (45)
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis (2016) (45)
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis (2016) (45)
The Role of Calcium Channels in Epilepsy. (2016) (45)
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1 (2013) (45)
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children (2008) (45)
Clinical neurophysiology of the episodic ataxias: Insights into ion channel dysfunction in vivo (2009) (44)
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease (2016) (44)
Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies (2011) (44)
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis (2016) (43)
Genetic neurological channelopathies (2006) (42)
Myology, third edition (2005) (42)
Genetic neuromuscular disease (2002) (42)
Mutations in the Novel Protein PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (IN10-2.005) (2012) (42)
A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease (2014) (42)
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia (2014) (41)
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A (2003) (41)
Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies. (2015) (41)
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load (2018) (40)
Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases (1999) (40)
New year, new editorial team (2004) (40)
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia (2005) (40)
Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release (2009) (39)
Continuing conservative care versus crossover to radiofrequency kyphoplasty: a comparative effectiveness study on the treatment of vertebral body fractures (2012) (38)
Guidelines on clinical presentation and management of nondystrophic myotonias (2020) (37)
Kearns–Sayre syndrome caused by defective R1/p53R2 assembly (2011) (37)
Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. (2013) (37)
Polymyositis, Dermatomyositis, and Inclusion Body Myositis (2013) (36)
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype (2015) (35)
Mutations in SCN4A: A Rare but Treatable Cause of Recurrent Life-Threatening Laryngospasm (2014) (35)
Immune‐Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA–DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum (2017) (35)
The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. (2015) (35)
Chloride channels in myotonia congenita assessed by velocity recovery cycles (2014) (34)
Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita (2008) (34)
Endoplasmic reticulum stress in spinal and bulbar muscular atrophy: a potential target for therapy (2014) (34)
Movement disorders and mitochondrial dysfunction. (1997) (34)
New phenotypic diversity associated with the mitochondrial tRNASer(UCN) gene mutation (2005) (34)
Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity (2018) (34)
Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy☆ (2014) (33)
Functional Characterization of a Novel Mutation in KCNA1 in Episodic Ataxia Type 1 Associated with Epilepsy (1999) (33)
Phenotypic variation of a new P0 mutation in genetically identical twins (1999) (33)
Membrane dysfunction in Andersen‐Tawil syndrome assessed by velocity recovery cycles (2012) (33)
A new explanation for recessive myotonia congenita (2012) (32)
Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A (2018) (32)
Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins (2010) (32)
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome (2016) (32)
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies (2016) (32)
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies (2018) (32)
Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy (2019) (31)
Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias (2007) (31)
NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease (2013) (31)
Classical mitochondrial phenotypes without mtDNA mutations (2003) (31)
Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation (2007) (30)
Progressive neurological disease induced by tacrolimus in a renal transplant recipient: Case presentation (2006) (30)
Diagnosis and new treatment in muscle channelopathies (2008) (29)
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood. (2013) (29)
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2 (2008) (29)
Stridor as a neonatal presentation of skeletal muscle sodium channelopathy. (2011) (28)
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease (2017) (28)
Profiling neuronal ion channelopathies with non-invasive brain imaging and dynamic causal models: Case studies of single gene mutations (2016) (28)
Genetic association studies of complex neurological diseases (2006) (28)
Sporadic inclusion body myositis: the genetic contributions to the pathogenesis (2014) (28)
Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study (2019) (27)
An interactive voice response diary for patients with non‐dystrophic myotonia (2011) (27)
NEONATAL HYPOTONIA CAN BE A SODIUM CHANNELOPATHY: RECOGNITION OF A NEW PHENOTYPE (2008) (27)
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy (2019) (27)
Atypical periodic paralysis and myalgia (2018) (26)
Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints (2019) (26)
Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity (2019) (26)
Neurological channelopathies: diagnosis and therapy in the new millennium. (1999) (26)
Candidate Screening of the TRPC3 Gene in Cerebellar Ataxia (2011) (25)
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions (2006) (25)
Renal function and mitochondrial cytopathy (MC): more questions than answers? (2008) (24)
The skeletal muscle channelopathies: basic science, clinical genetics and treatment (2001) (24)
Brief Communication Complex Partial Status Epilepticus in Late‐Onset MELAS (1998) (24)
Mutations in the Novel Protein PRRT2 Cause Infantile Convulsions with Paroxysmal Kinesigenic Dyskinesia (2012) (23)
Human T cell leukaemia virus type I associated neuromuscular disease causing respiratory failure (2002) (22)
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis (2014) (22)
Improved anatomical reproducibility in quantitative lower‐limb muscle MRI (2014) (22)
Congenital myopathy with “corona” fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A (2017) (21)
Extra-ocular muscle MRI in genetically-defined mitochondrial disease (2015) (21)
Interrater reliability and aspects of validity of the myositis damage index (2011) (21)
Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita (2000) (21)
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK (2015) (21)
Chronic pain is common in mitochondrial disease (2020) (20)
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study (2021) (20)
Ongoing Developments in Sporadic Inclusion Body Myositis (2014) (20)
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia (2016) (20)
Ion channels and neurological disease: DNA based diagnosis is now possible, and ion channels may be important in common paroxysmal disorders (1998) (20)
Clinical and pathological heterogeneity in late‐onset partial merosin deficiency (2011) (20)
How do breast cancer surgery scars impact survivorship? Findings from a nationwide survey in the United States (2019) (20)
The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis (2015) (20)
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency (2020) (20)
In vivo assessment of muscle membrane properties in the sodium channel myotonias (2018) (20)
Atypical periodic paralysis and myalgia A novel RYR1 phenotype (19)
LB0002 Safety and Tolerability of Arimoclomol in Patients with Sporadic Inclusion Body Myositis: A Randomised, Double-Blind, Placebo-Controlled, Phase IIa Proof-of-Concept Trial (2013) (19)
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms (2018) (19)
Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4 (2018) (19)
Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia (2013) (19)
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms (2017) (18)
Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene. (2002) (18)
In vivo assessment of muscle membrane properties in myotonic dystrophy (2016) (18)
Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations (2012) (18)
Dysfunction of the CaV2.1 calcium channel in cerebellar ataxias (2010) (18)
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations (2020) (18)
Sporadic inclusion body myositis: an unsolved mystery. (2009) (18)
Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy (2019) (18)
Empty polyetheretherketone (PEEK) cages in anterior cervical diskectomy and fusion (ACDF) show slow radiographic fusion that reduces clinical improvement: results from the prospective multicenter “PIERCE-PEEK” study (2017) (18)
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease (2017) (17)
A quantitative measure of handgrip myotonia in non‐dystrophic myotonia (2012) (17)
Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy (2018) (17)
Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy (2017) (17)
The skeletal muscle channelopathies: distinct entities and overlapping syndromes (2003) (17)
Aggressive CNS lupus vasculitis in the absence of systemic disease activity. (2008) (17)
Making sense of missense variants in TTN-related congenital myopathies (2021) (17)
In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission. (2012) (17)
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy (2018) (16)
Drug repurposing in neurological diseases: an integrated approach to reduce trial and error (2019) (16)
MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and national registry meeting, Newcastle, UK July 2011 (2013) (16)
Polyphenotypic Expression of Mitochondrial Toxicity Caused by Nucleoside Reverse Transcriptase Inhibitors (2002) (16)
Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1) (2015) (16)
Forecasting stroke-like episodes and outcomes in mitochondrial disease (2021) (16)
Applying genomic and transcriptomic advances to mitochondrial medicine (2021) (16)
Spider toxin inhibits gating pore currents underlying periodic paralysis (2018) (16)
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4 (2019) (15)
Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation (2017) (15)
Correcting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps (2012) (15)
Does partial coating with titanium improve the radiographic fusion rate of empty PEEK cages in cervical spine surgery? A comparative analysis of clinical data (2017) (15)
Problems with botulinum toxin treatment in mitochondrial cytopathy: case report and review of the literature (2005) (14)
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1 (2019) (14)
G.P.12.08 Zebra body myopathy resolved (2009) (14)
Tubular aggregate myopathy with abnormal pupils and skeletal deformities (2002) (14)
Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions☆ (2014) (14)
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients (2020) (14)
MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide (2017) (13)
Zebra body myopathy resolved (2009) (13)
Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity (2008) (13)
De novo KCNA2 mutations cause hereditary spastic paraplegia (2017) (12)
Matching taxpayer funding to population health needs. (2015) (12)
Adults with RRM 2 B-related mitochondrial disease have distinct clinical and molecular characteristics (2012) (12)
Two unusual clinical presentations of the mitochondrial DNA A3243G point mutation in adult neurological practice. (1997) (12)
Marked hemiatrophy in carriers of Duchenne muscular dystrophy. (2010) (12)
Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches. (2020) (11)
Longitudinal observational study investigating outcome measures for clinical trials in inclusion body myositis (2021) (11)
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel (2018) (11)
Mitochondrial disorders: disease mechanisms and therapeutic approaches. (2015) (11)
Muscle weakness, palpitations and a small chin: the Andersen–Tawil syndrome (2010) (11)
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases (2019) (11)
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation (2019) (11)
The Chronic Urticaria Registry: rationale, methods and initial implementation (2020) (11)
Life after hyperthermic intraperitoneal chemotherapy; measuring quality of life and performance status after cytoreductive surgery plus hyperthermic intraperitoneal chemotherapy. (2016) (11)
Running a neurogenetic clinic (2002) (10)
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2 (2016) (10)
A PATIENT WITH EPISODIC ATAXIA AND PARAMYOTONIA CONGENITA DUE TO MUTATIONS IN KCNA1 AND SCN4A (2009) (10)
Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2 I : A Multinational Cross-Sectional Study (2014) (10)
Interesting clinical features associated with mutations in the SLC20A2 gene (2012) (10)
Global opportunities and challenges for clinical neuroscience. (2014) (10)
Repurposing of sodium channel antagonists as potential new anti-myotonic drugs (2014) (10)
Genetic advances in sporadic inclusion body myositis (2015) (10)
Rare variants in SQSTM 1 and VCP genes and risk of sporadic inclusion body myositis (2016) (10)
Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene (2017) (10)
Graphical modelling of molecular networks underlying sporadic inclusion body myositis. (2013) (10)
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair (2019) (10)
Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance (2005) (9)
Plasma pNfH levels differentiate SBMA from ALS (2019) (9)
New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics (2012) (9)
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy (2019) (9)
Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures (2016) (9)
Primary mitochondrial diseases increase susceptibility to bipolar affective disorder (2020) (8)
Nongenomic actions of progesterone and 17β‐estradiol on the chloride conductance of skeletal muscle (2013) (8)
Improving genetic diagnostics of skeletal muscle channelopathies (2020) (8)
How Well Informed Do Patients Feel about Their Breast Cancer Surgery Options? Findings from a Nationwide Survey of Women after Lumpectomy and/or Mastectomy. (2017) (8)
Cardiovascular Manifestations of Myotonic Dystrophy (2018) (8)
Distal myopathy with tubular aggregates: a new phenotype associated with multiple deletions in mitochondrial DNA? (2002) (8)
Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1. (2019) (8)
A form of muscular dystrophy associated with pathogenic variants in JAG2. (2021) (8)
Vestibular dysfunction: a frequent problem for adults with mitochondrial disease (2018) (8)
RESILIENT: A Randomized, Double-Blind, Placebo-Controlled Study of Bimagrumab in Patients With Sporadic Inclusion Body Myositis (P1.111) (2017) (8)
Paroxysmal neuromyotonia: A new sporadic channelopathy (2012) (7)
In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis (2020) (7)
Stability and sensitivity of water T 2 obtained with IDEAL‐CPMG in healthy and fat‐infiltrated skeletal muscle (2016) (7)
Peripheral Nerve Diseases Associated with Mitochondrial Respiratory Chain Dysfunction (2005) (7)
Muscle disease (2009) (7)
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish (2021) (7)
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) (2021) (7)
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly (2011) (7)
Possible role of SCN4A skeletal muscle mutation in apnea during seizure (2019) (6)
Ion channels and neurology (2001) (6)
Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy (2018) (6)
Cytosolic 50-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis (2017) (6)
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. (2018) (6)
Mitochondrial D NA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases (2021) (6)
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre (2019) (5)
Innovative care model for patients with complex muscle diseases. (2014) (5)
Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita (2013) (5)
Urogenital symptoms in mitochondrial disease: overlooked and undertreated (2019) (5)
Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia (2003) (5)
Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges (2022) (5)
Investigation of the psychometric properties of the inclusion body myositis functional rating scale with rasch analysis (2019) (5)
FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion (2013) (5)
British Society for Rheumatology guideline on management of paediatric, adolescent and adult patients with idiopathic inflammatory myopathy (2022) (5)
Designing clinical trials for rare diseases: unique challenges and opportunities (2022) (5)
Unusual muscle disease in HIV infected patients (2004) (5)
Cardiac Outcomes in Adults With Mitochondrial Diseases. (2022) (5)
Phase II Therapeutic Trial of Mexiletine in Non-Dystrophic Myotonia (2011) (4)
Clinical, pathological and functional characterization of riboﬂavin-responsive neuropathy (2017) (4)
Recurrent pseudo-obstruction and sigmoid volvulus in Duchenne Muscular Dystrophy: A case report (2012) (4)
Sodium and chloride channelopathies with myositis: Coincidence or connection? (2011) (4)
Managing pregnancy and anaesthetics in patients with skeletal muscle channelopathies (2020) (4)
Intronic and missense mutations within the LAMP-2 gene in Danon disease (X linked vacuolar cardiomyopathy and myopathy) (2002) (4)
Twelve-Month Change of IBMFRS in the Arimocolomol Inclusion Body Myositis Pilot Study (P07.225) (2012) (4)
Mexiletine (NaMuscla) for the treatment of myotonia in non-dystrophic myotonic disorders (2020) (4)
Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis (2020) (4)
Re: Editorial: Data interpretation and integration of new tests into clinical practice. (1998) (4)
2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA (2021) (4)
Skeletal Muscle Channelopathies. (2020) (4)
Rare disease centers for periodic paralysis: China versus the United States and United Kingdom (2014) (4)
1700 MRI quantification of lower limb muscle fatty atrophy: a potential outcome measure in chronic neuromuscular diseases (2012) (3)
EMERGENCY NEUROMUSCULAR ADMISSIONS ARE AVOIDABLE: A REGIONAL AUDIT OF UNPLANNED HOSPITAL ADMISSIONS OF NEUROMUSCULAR PATIENTS 2009–2011: FINAL RESULTS AND RECOMMENDATIONS (2013) (3)
Diagnostic and prognostic value of anti-cN1A antibodies in inclusion body myositis. (2022) (3)
Whole-genome sequencing and the clinician: a tale of two cities (2014) (3)
Genetic defects are common in myopathies with tubular aggregates (2021) (3)
Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome (2020) (3)
Diagnosis and new treatment in muscle (2009) (3)
MEASURING THE UNMEASURABLE: MRI QUANTIFICATION OF DISEASE PROGRESSION IN CMT1A OVER 12 MONTHS (2013) (3)
Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Nav1.4 Channel (2019) (3)
A form of muscular dystrophy associated with pathogenic variants in JAG2. (2021) (3)
Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice. (2020) (3)
Diagnosing rare neuromuscular diseases - The jump from research to service (2002) (3)
O13 Skeletal muscle MRI-determined fat fraction and myometric strength in inclusion body myositis and Charcot-Marie-Tooth disease Type 1A (2011) (3)
Diagnosis of skeletal muscle channelopathies. (2013) (3)
Mitochondrial Strokes: Diagnostic Challenges and Chameleons (2021) (3)
P80 The MRC Centre for Translational Research in Neuromuscular Disease: Mitochondrial Disease Patient Cohort Study UK (2011) (3)
Longitudinal Changes in MRI Muscle Morphometry and Composition in People With Inclusion Body Myositis (2022) (3)
Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis (2020) (3)
A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres (2020) (2)
Predicting steroid response in muscle disease (2006) (2)
Phenotypes and Genotypes of Mitochondrial Disease- Findings from A National Mitochondrial Disease Cohort (P2.061) (2015) (2)
Detrusor overactivity in becker muscular dystrophy (2013) (2)
Ageing contributes to phenotype transition in a mouse model of periodic paralysis (2021) (2)
The Natural History of Sporadic Inclusion Body Myositis-an Observational Longitudinal Study. (2012) (2)
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events. (2020) (2)
Nerve and Muscle Disease (2009) (2)
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events (2020) (2)
COVID-19–Related Outcomes in Primary Mitochondrial Diseases (2022) (2)
Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants. (2021) (2)
Plasma pNfH differentiate SBMA from ALS (2019) (2)
Development of disease activity and damage indices for myositis: Further testing of four tools in adult onset patients. (2002) (2)
Channeling into the Epilepsies (2008) (2)
Using whole-exome sequencing to identify mutations of SQSTM1 and VCP in inclusion body myositis (2015) (2)
Periodic paralysis, malignant ventricular arrhythmia and dysmorphism (Andersen's syndrome): A skeletal muscle potassium channel disorder (2002) (2)
Generalised chorea in two patients harbouring Friedrich's ataxia trinucleotide repeat expansion (1997) (2)
Amplifying the heat shock response ameliorates pathology in mouse and human models of ALS and FTD. (2021) (2)
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant (2020) (2)
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia (2021) (2)
Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice (2020) (2)
Long‐term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis (2021) (2)
Neuromuscular diseases: progress in gene discovery drives diagnostics and therapeutics (2015) (2)
COVID‐19 infection and vaccination in patients with skeletal muscle channelopathies (2022) (2)
Congenital myasthenic syndrome with episodic apnoea: new mutations and an unusual complication (2004) (2)
An unusual presentation for SOD1‐ALS: Isolated facial diplegia (2013) (2)
THE MEDICAL RESEARCH COUNCIL NEUROMUSCULAR CENTRE FOR TRANSLATIONAL RESEARCH MITOCHONDRIAL DISEASE PATIENT COHORT STUDY UK: FROM CONCEPTUALISATION TO UTILISATION (2013) (1)
Anti-HMGCR myopathy: barriers to prompt recognition. (2022) (1)
397 The clinical phenotype of a child with a novel calcium channel gene (CACNA1A) mutation associated with episodic ataxia type 2 and absence epilepsy (1999) (1)
Integrin α7 Mutations Are Associated With Adult‐Onset Cardiac Dysfunction in Humans and Mice (2022) (1)
Andersen-Tawil Syndrome Presenting with Complete Heart Block. (2020) (1)
Differential Diagnoses of Inclusion Body Myositis. (2020) (1)
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease (2021) (1)
Actazolamide to treat congenital myopathy caused by SCN4A mutation (2017) (1)
D.P.2.13 Neonatal hypotonia can be a sodium channelopathy (2008) (1)
NORMATIVE AEROBIC EXERCISE VALUES IN CMT (2016) (1)
Long-term Safety and Efficacy of Mexiletine in Myotonic Dystrophy Types 1 and 2. (2021) (1)
Long-Term Efficacy and Safety of Bimagrumab in Inclusion Body Myositis: 2 Years Results (S38.003) (2018) (1)
CARDIAC FEATURES IN ADULTS WITH ALTERNATING HEMIPLEGIA (2014) (1)
Cardiopulmonary exercise performance and factors associated with aerobic capacity in neuromuscular diseases (2021) (1)
SQSTM1 and VCP mutations in a series of 205 inclusion body myositis cases (2015) (1)
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. (2022) (1)
COMPARISON OF THE QUANTITATIVE MYASTHENIA GRAVIS SCORE AND THE MYASTHENIA GRAVIS COMPOSITE SCALE THROUGH RASCH ANALYSIS (2013) (1)
Preliminary Results of Andersen-Tawil Syndrome Genotype-Phenotype Longitudinal Study from the Consortium for Clinical Investigation of Neurologic Channelopathies (CINCH) (2011) (1)
Negative results The effects of an intronic polymorphism in TOMM 40 and APOE genotypes in sporadic inclusion body myositis (2015) (1)
Improving specialised care for neuromuscular patients reduces the frequency of preventable emergency hospital admissions (2019) (1)
Neonatal hypotonia can be a sodium channelopathy (2008) (1)
Genetic heterogeneity and mechanisms of phenotypic variability in human skeletal muscle channelopathies (2011) (1)
ACCURATE SLICE SELECTION IMPROVES RESPONSIVENESS OF QUANTITATIVE LOWER LIMB MUSCLE MRI IN CMT1A PATIENTS (2015) (1)
P39 Prevalence study of skeletal muscle channelopathies in England (2012) (1)
P50 Genetic dysfunction of MT-ATP6 can cause axonal Charcot-Marie-Tooth disease (2012) (1)
Correction to: Episodic Ataxia Type 1: Natural History and Effect on Quality of Life. (2022) (1)
Annual Renal Ultrasound May Prevent Acute Presentation With Acetazolamide-Associated Urolithiasis (2019) (1)
Inter-rater reliability and validity of two disease activity assessment tools in patients with idiopathic inflammatory myositis (IIM) (2005) (1)
Audit of unplanned admissions in neuromuscular patients: a collaborative audit (2012) (1)
A case of necrotizing myopathy with proximal weakness and cardiomyopathy (2012) (1)
Evaluating the benefits of community based aerobic training on the physical health and well-being of people with neuromuscular disease (2016) (1)
Efficacy and Safety of Dichlorphenamide for the Treatment of Periodic Paralysis: a Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial (PL02.001) (2016) (1)
1154 Skeletal muscle chloride channel gene (CLCN1) copy number variation can cause myotonia congenita (2012) (1)
PONM21 Electron microscopy does not add to the diagnostic accuracy of muscle biopsy for suspected mitochondrial disease (2010) (1)
The long exercise test as a functional marker of periodic paralysis (2021) (1)
P94 Novel muscle fat-fraction MRI metrics for quantifying neuromuscular pathology (2012) (1)
A diagnostic conundrum (2018) (1)
P76 MRI shows increased tibial nerve size in CMT1A (2011) (1)
ECG ABNORMALITIES IN ALTERNATING HEMIPLEGIA: A BROADENED PHENOTYPE (2015) (1)
Genome-wide imputation identifies novel associations and localises signals in idiopathic inflammatory myopathies. (2022) (1)
MRI QUANTIFICATION OF INTRAMUSCULAR FAT ACCUMULATION IN CMT1A: FOUR YEAR FOLLOW UP DATA (2017) (1)
Musclesense: a Trained, Artificial Neural Network for the Anatomical Segmentation of Lower Limb Magnetic Resonance Images in Neuromuscular Diseases (2020) (1)
Mitochondrial dysfunction in association with cardiolipin deficiency (2007) (1)
Handbook of Ataxia Disorders Klockgether T, August 2000, 712 pp Marcel Dekker Inc. New York, ISBN: 0 8247 03812 $215 (2001) (1)
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population. (2023) (1)
097 Valosin Containing Protein (VCP) and Myofibrillar Myopathies (MFM) genes' mutations are not associated with sporadic Inclusion Body Myositis (sIBM) (2012) (1)
Novel muscle fat-fraction MRI metrics for quantifying neuromuscular pathology (2012) (1)
1142 Mexiletine is an effective treatment in non-dystrophic myotonia (2012) (1)
Neuromuscular diseases: from basic mechanisms to clinical management. Monographs in clinical neurosciences. Volume 18 (2001) (1)
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Inter-rater reliability of a new damage assessement tool in patients with idiopathic inflammatory myositis (IIM) (2005) (1)
Abstract P6-12-15: The psychosocial impact of surgical scars in survivorship: Findings from a nationwide survey of women breast cancer survivors (2018) (1)
P91 Using MRI as a diagnostic tool in the skeletal muscle channelopathies (2010) (1)
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Case Report Polyphenotypic expression of mitochondrial toxicity caused by nucleoside reverse transcriptase inhibitors (2003) (1)
P47 Loss of negative charges within the voltage sensor domain of NaV1.4 results in gating pore currents (2014) (1)
O14 Magnetic resonance imaging in the non-dystrophic myotonias (2011) (1)
Empty PEEK Cages in ACDF: Does Partial Titanium Coating Improve the Radiographic Fusion? (2016) (1)
O28 Largest Genetic Study to Date in Sporadic Inclusion Body Myositis Confirms the Human Leukocyte Antigen as the Most Associated Region and Suggests a Role for C-C Chemokine Receptor Type 5 (2016) (1)
Disorders of Voluntary Muscle: Muscle ion channelopathies and related disorders (2010) (1)
Premature termination in the CACNA1A gene observed in episodic ataxia type 2 (EA2) results in a loss of alpha1A calcium channel function (2000) (0)
Metabolic Fatty Liver Disease (2009) (0)
P69 Investigating the effects of pharmacological up-regulation of the heat shock response on protein degradation pathways in an in-vitro model of sporadic inclusion body myositis (2011) (0)
M16 Mitochondrial disease and pelvic organ dysfunction: an under-recognised but treatable clinical association (2017) (0)
Population genetics of the SCA6 locus in British families with ADCA. (1999) (0)
G.P.5.09 Severe necrotising myopathy and cardiomyopathy with anti-signal recognition peptide antibodies (2008) (0)
Correction to: Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus. (2023) (0)
Variation in CACNA1A associated with episodic ataxia and epilepsy (2009) (0)
The utility of next generation sequencing in a muscle specialist service (2017) (0)
Foreword to the Second Edition (2016) (0)
Episodic ataxia type 2-mutation analysis and screening recommendations (2012) (0)
Cytochrome c oxidase deficiency linked to a new stop codon point mutation in mitochondrial DNA (1997) (0)
015 Identifying the cause of phenotypic variability in a family with non-dystrophic myotonia (2012) (0)
P54 A3243G – more than just MELAS! (2011) (0)
024 Andersen-Tawil syndrome: multi-system deep phenotyping of a large UK cohort (2021) (0)
IN VIVO ASSESSMENT OF HCN CHANNEL FUNCTION (IH) IN HUMAN MOTOR AXONS (2009) (0)
Inherited muscle and brain channelopathies (2001) (0)
P69 Investigating the effects of pharmacological up-regulation of the heat shock response in an in-vitro model of sporadic inclusion body myositis (2012) (0)
P82 Myofibrillar myopathies (MFM), valosin containing protein (VCP) and glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) genes' mutations are not associated with sporadic inclusion body myositis (sIBM) (2012) (0)
M01 MtDNA oxidation can induce PINK1-dependent mitophagy independently of mitochondrial depolarisation (2017) (0)
MRI QUANTIFICATION OF FAT GRADIENTS IN CALF MUSCLES IN CMT1A (2014) (0)
SPORADIC INCLUSION B ODY M YOSITIS : AN U NSOL V ED M YSTERY (2009) (0)
ISOMETRIC AND ISOKINETIC LOWER LIMB STRENGTH IN CHARCOT-MARIE-TOOTH DISEASE 1A (2011) (0)
A novel voltage-sensing mutation in Kv1.1 is associated with episodic ataxia type 1 (2007) (0)
Clinical and Molecular Characterization of Non-Dystrophic Myotonia (P05.181) (2012) (0)
NOVEL DOMINANT POLG MUTATIONS CAUSE DISTAL MYOPATHY (2012) (0)
P24 Genetic heterogeneity and mechanisms of phenotypic variability in human skeletal muscle channelopathies – a new S4 mutation not associated with HypoPP (2011) (0)
RCT of Bumetanide in Hypokalaemic Periodic Paralysis (HypoPP) using abductor digiti minimi compound muscle action potential (CMAP) as an objective outcome measure (2017) (0)
KEARNS-SAYRE SYNDROME CAUSED BY MUTATIONS IN THE NUCLEAR RRM2B GENE (2011) (0)
Texture Analysis of Muscle 3-Point Dixon Fat-Fraction: Changes Over 1 Year (2014) (0)
Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4 (2018) (0)
Channelopathies of the nervous system (2002) (0)
P82 Heat shock protein induction as a therapeutic strategy for inclusion body myositis (2010) (0)
NMJ&C09 Ataluren increases functional expression of R894X mutant skeletal muscle voltage gated chloride channels in vitro (2018) (0)
P80 Augmentation of the heat shock response in an in vitro model of sporadic inclusion body myositis (2010) (0)
Looking Back and Looking Forward at Stuff (2020) (0)
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. (2021) (0)
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A Quantitative Measure of Handgrip Myotonia in Patients with Non-Dystrophic Myotonia (2011) (0)
P83 IBM-Net: a clinical database of inclusion body myositis patients (2010) (0)
OD03 Translating discovery science into treatments for patients: observational cohort studies at the MRC Centre for Neuromuscular Diseases (2018) (0)
FUNCTIONAL ANALYSIS OF CLC-1 VARIANTS INFORMS GENETIC COUNSELLING FOR MYOTONIA CONGENITA (2016) (0)
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PONM17 Augmentation of the heat shock response in an in vitro model of sporadic inclusion body myositis (2010) (0)
P30 Large scale chloride channel gene DNA rearrangements are an important cause of recessive myotonia congenitaimplications for diagnostic screening (2011) (0)
050. International Immunochip Study in the Idiopathic Inflammatory Myopathies Identifies Genetic Differences Between Clinical Subgroups, and Confirms HLA Alleles as Strongest Genetic Risk Factor (2015) (0)
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Caveolinopathy mimicking a metabolic disorder (2017) (0)
A novel phenotype associated with deficiency of mitochondrial complex IV activity (2007) (0)
Ion Channels and Human Disorders (2005) (0)
PAW31 Clinical and genetic spectrum of the episodic ataxias: the UK perspective (2010) (0)
EEG Abnormalities in the Episodic Ataxias (P05.029) (2012) (0)
P46 Functional investigation of a novel mutation causing a new phenotype for the KCNA1 gene (2014) (0)
AN INVESTIGATION INTO THE SIDE EFFECT PROFILE, SAFETY PROFILE AND PERCEIVED EFFICACY OF MEXILETINE FOR THE TREATMENT OF MYOTONIA IN A COHORT OF PATIENTS WITH DYSTROPHIC AND NON-DYSTROPHIC MYOTONIA (2014) (0)
THELANCET-D-18-02334: Reply from the authors (2019) (0)
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International immunochip study in the idiopathic inflammatory myopathies identifies novel susceptability loci and confirms HLA as strongest genetic risk factor (2014) (0)
Episodic ataxia type 2 (EA2) is associated with epilepsy (2007) (0)
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement (2022) (0)
THE MRC CENTRE FOR NEUROMUSCULAR DISEASES OBSERVATIONAL COHORTS: A TOOL TO TRANSLATE DISCOVERY SCIENCE INTO TREATMENTS FOR PATIENTS (2017) (0)
Genotype–phenotype association in patients with SCN4A mutation – Authors' reply (2019) (0)
PORT03 MRC mitochondrial cohort study: development of a UK database (2010) (0)
P43 Acetazolamide response in patients affected by hypokalemic periodic paralysis (2010) (0)
O03 Dysregulation of calcium and mitochondrial function as potential therapeutic targets in muscle disease (2011) (0)
The Early History of Arimoclomol for Inclusion Body Myositis (2021) (0)
OPINION Update in inclusion body myositis (2013) (0)
PNAS Plus Significance Statements (2016) (0)
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Molecular Genetics of Skeletal Muscle Channelopathies (2013) (0)
M12 Natural history and mortality studies in mitochondrial diseases: a systematic literature review (2018) (0)
MRI quantification of abnormal muscle water distribution in chronic neuromuscular diseases: a sensitive bio-marker (2012) (0)
ACCURATE SLICE SELECTION IMPROVES RESPONSIVENESS OF LOWER LIMB MRI DETERMINED FAT FRACTION IN CMT1A PATIENTS (2015) (0)
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M05 Cause of death in a cohort of mitochondrial patients (2017) (0)
mitochondrial DNA? phenotype associated with multiple deletions in Distal myopathy with tubular aggregates: a new (2007) (0)
P36 Texture analysis of muscle MRI changes over 1 year (2014) (0)
014 Prevalence study of skeletal muscle channelopathies in England (2012) (0)
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173 Transcriptional phenotypes of a human stem cell model of Spinal Bulbar Muscular Atrophy (SBMA) (2022) (0)
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BSR AND BHPR ORAL PRESENTATION OF ABSTRACTS GENETIC DIFFERENCES BETWEEN CLINICAL SUBGROUPS, AND CONFIRMS HLA ALLELES AS STRONGEST GENETIC (2015) (0)
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P65 Whole genome analysis in a family with dominant muscle disease (2011) (0)
Novel POLG mutation causing distal myopathy and cachexia (2010) (0)
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3Tesla gradient-echo 3-point Dixon imaging for robust water-only imaging of the extra-ocular muscles (2010) (0)
P27 Genotype-phenotype correlation and longitudinal three year natural history study in the non-dystrophic myotonias in the UK (2011) (0)
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First international 'Institute of Myology' workshop on Inclusion Body Myositis. (2009) (0)
P71 A randomised, double-blinded, placebo-controlled pilot study assessing the safety and tolerability of Arimoclomol in sporadic inclusion body myositis (IBM) (2011) (0)
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P84 The expanding histopathological profile of the myofibrillar myopathies (2010) (0)
1130 Clinical features and clinical course of sporadic inclusion body myositis (IBM): a prospective cohort study: IBM-net (2012) (0)
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Episodic Ataxia Type 1: Characterization of the Disease and Its Effect on Quality of Life (S12.005) (2012) (0)
M18 Service evaluation exploring the incidence of vestibular and balance dysfunction in people with mitochondrial disease (2017) (0)
D.P.2.09 Non-genomic effects of sex hormones on ClC-1 may contribute to gender differences in myotonia congenita (2008) (0)
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Two new mitochondrial ND5 gene mutations associate with MELAS without ragged red fibres: Is ND5 a hotspot for MELAS-causing mutations? (2002) (0)
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders (2019) (0)
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies. (2022) (0)
Mutant TRIAP1 causes impaired mitochondrial bioenergetics and myopathy (2022) (0)
Corrigendum to ‘Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease’ [Eur J Heart Fail 2010;12:114–121] (2010) (0)
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Patients Feel Uninformed about Their Breast Cancer Surgery Options: Findings from a Nationwide Survey of Women who Reported a Lumpectomy or Mastectomy (2017) (0)
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OD20 Novel loss-of-function mutation in ACBD5 found in family with ataxia (2018) (0)
Funding research to achieve the Spine "10 × 25" goal. (2016) (0)
Baseline Characteristics from a Prospective Natural History Study in Patients with Sporadic Inclusion Body Myositis (P1.126) (2016) (0)
P70 Inclusion body myositis: a diagnostic challenge (2011) (0)
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy (2022) (0)
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Inclusion body myositis: clinical review and current practice (2014) (0)
THE CLINICAL AND GENETIC SPECTRUM OF HEMIPLEGIC MIGRAINE (2014) (0)
225 Sporadic inclusion body myositis: a longitudinal observational study investigating outcome measures for clinical trials (2019) (0)
Young Researchers Forum - Young Scientist Awards Immunology 2020 (2020) (0)
POG04 Multiple mitochondrial DNA deletions, cyclooxygenase-negative fibres and slowly progressive cognitive decline with psychiatric features (2010) (0)
Large scale chloride channel gene DNA rearrangements are an important cause of recessive Myotonia Congenita (2011) (0)
I55. IMPORTANCE OF INTERFACE WITH RELATED NEUROSCIENCE SERVICES (2017) (0)
Functional characterisation of mutant Kv1.1 subunits from two families with episodic ataxia type 1 (2000) (0)
Identification of novel and recurrent mitochondrial DNA mutations in paediatric onset mitochondrial disease using the mitochip resequencing array (2008) (0)
In Memoriam: Sir Roger G. Bannister, CH, CBE, MSc, MA, DM, FRCP (1929–2018) (2019) (0)
PARAMYOTONIA CONGENITA & SODIUM CHANNEL MYOTONIA: ARE THEY DISTINCT DISEASES? (2015) (0)
When Is Myotonia Not Caused By Myotonic Dystrophy (2017) (0)
P62 Investigating the effects of pharmacological up-regulation of the heat shock response in a transgenic mouse model of inclusion body myopathy (2014) (0)
042 Familial generalized myokymia: A new potassium channelopathy (1999) (0)
M02 Impact of mitochondrial mutations on the metabolite-dependent epigenetic profile of human induced pluripotent stem cell derived myotubes (2017) (0)
NMJ+C08 Management of pregnancy and anaesthetic use in skeletal musclechannelopathy patients (2017) (0)
HOW REPRODUCIBLE ARE MULTIPLE NERVE EXCITABILITY PARAMETERS OVER TIME (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)
P73 The natural history of sporadic inclusion body myositis: data from the IBM-Net prospective cohort study (2012) (0)
Manole et al., KCNA2 in hereditary spastic paraplegia De-novo KCNA2 mutations cause hereditary spastic paraplegia Running head: KCNA2 in hereditary spastic paraplegia (2017) (0)
Acute neurology. (2007) (0)
R E V I E W A R T I C L E The primary periodic paralyses: diagnosis, pathogenesis and treatment (2005) (0)
EEG Abnormalities in the Episodic Ataxias (2012) (0)
Genetic diagnosis of paramyotonia congenita - exon 24 of the skeletal muscle sodium channel (SCN4A) gene is a hot spot for mutations (1999) (0)
P72 The effects of arimoclomol on pathological outcome measures of inclusion body myositis in vitro (2011) (0)
Progressive neurological disease induced by tacrolimus in a renal transplant recipient : Case report (2006) (0)
Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications (2021) (0)
Factors associated with the severity of COVID‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID‐19 Registry (2022) (0)
A clinical, genetic and electrophysiological study of a new UK episodic ataxia type 1 (EA1) pedigree (2007) (0)
Sporadic inclusion body myositis: an unsolved mystery 1 SPORADIC INCLUSION BODY MYOSITIS: AN UNSOLVED MYSTERY (2012) (0)
Immunohistochemical Evaluation of Amyloidosis in Endomyocardial Biopsies (2011) (0)
OD18 Reducing unplanned hospital admissions in patients with neuromuscular diseases: an NHS re-audit (2018) (0)
P34 Muscle degeneration in ion channel dysfunction (2012) (0)
0675 CNS lupus in the absence of systemic disease activity (2005) (0)
Episodic Ataxia Type 1: Natural History and Effect on Quality of Life. (2022) (0)
Non-functional alpha(1A) calcium channel in episodic ataxia type 2 (2000) (0)
Clinical and molecular genetic studies of a cohort of Italian patients with muscle channelopathies (2011) (0)
NMJ+C01 A comparative phenotype study of the key forms of Periodic Paralysis in the UK (2017) (0)
Nerve Excitability Measurements Can Distingush Genetic Channelopathies in the Episodic Ataxias (2009) (0)
O05 Exome sequencing in three families with cytoplasmic body myopathy with early respiratory failure (2012) (0)
PRECIPITOUS LATE-ONSET RADIATION-INDUCED MYOPATHY (2016) (0)
Candidate skeletal muscle outcome measures for therapy trials : dependence of MRI measures upon age , gender and weight (2012) (0)
"Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus". (2023) (0)
A cross‐sectional study of memory and executive functions in patients with sporadic inclusion body myositis (2021) (0)
Alterations in RNA metabolism in sporadic inclusion body myositis (2013) (0)
TUTORIAL DIAGNOSIS BANDING, EDISI 4 (2011) (0)
O7-8 The selenoprotein N related congenital muscular dystrophy, the UK experience: clinical course and genotype/phenotype correlation (2009) (0)
MO30 Multiple measures of peripheral nerve excitability: reproducibility of repeated tests and assessment of HCN channel current (Ih) (2008) (0)
Lack of Correlation Between Biomarker and Clinical Outcome Measures in the Arimoclomol Inclusion Body Myositis Pilot Study (S16.001) (2014) (0)
G.P.4.13 A co-inducer of the heat shock response ameliorates disease in a mouse model of SBMA (2008) (0)
Structure and function of muscle (2020) (0)
CRYPTIC AMYLOIDOGENIC ELEMENTS IN THE 3 ' UTR OF THE NEUROFILAMENT HEAVY GENE TRIGGER CHARCOT-MARIE-TOOTH DISEASE (2016) (0)
P77 Improved magnetization transfer MRI of skeletal muscle in myopathy and neuropathy (2011) (0)
When and how should neurologists test for mutations in POLG (2007) (0)
Mild hyperphenylalaninemia (2020) (0)
Episodic ataxia type 1 in identical twins: genotype-phenotype correlation (2008) (0)
P45 Double-blind placebo controlled cross-over study to investigate the efficacy of mexiletine in patients with non-dystrophic myotonia in the UK (2010) (0)
EP.103Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre (2019) (0)
P25 Double-blind, placebo-controlled, parallel group, phase III study comparing dichlorphenamide vs. placebo for the treatment of periodic paralysis (HYP HOP trial) (2011) (0)
Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints (2019) (0)
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (0)
P22 Clinical and pathological heterogeneity in partial merosin deficiency (2010) (0)
QUALITATIVE LOWER LIMB MUSCLE MRI IN CMT1A DEMONSTRATES LENGTH-DEPENDENT FATTY INFILTRATION (2014) (0)
077 Long-term safety and efficacy of mexiletine for patients with myotonic dystrophy type 1 and 2 (2022) (0)
NMJ+C06 Recessive SCN4A loss of function in congenital myasthenic syndrome, congenital myopathy or fetal akinesia deformation sequence (2017) (0)
Evaluation of classical and novel histopathological features in the diagnosis of inclusion body myositis (2014) (0)
Functional analysis of interactions between wild-type and mutant subunits of hKv1.1 in episodic ataxia type 1 (2000) (0)
Anti-cN1A Autoantibody Seropositivity Is Associated with Increased Mortality Risk in Inclusion Body Myositis (I4.001) (2016) (0)
A novel POLG1 mutation resulting in severe cachexia and muscle wasting (2009) (0)
Epilepsy and Movement Disorders: Genetics of the overlap between epilepsy and movement disorders (2001) (0)
PONM13 Fatty acid oxidation disorders in adults: a potentially treatable cause of muscle disease (2010) (0)
NMJ+C07 Diagnosing the undiagnosable: a targeted approach to genetic sequencingin unconfi rmed cases of skeletal muscle channelopathies (2017) (0)
Cardiac manifestations of mitochondrial disorders: reply (2010) (0)
NOTCH APPEARANCE IN NERVE EXCITABILITY STUDIES: IDENTIFICATION AND IMPORTANCE (2009) (0)
LOWER LIMB MRI-DETERMINED FAT FRACTION IS HIGHLY RESPONSIVE OVER 12 MONTHS IN PATIENTS WITH HEREDITARY SENSORY NEUROPATHY TYPE 1 (2016) (0)
Phase II Study of Arimoclomol in IBM FDA-OOPD (2021) (0)
A MISSENSE MUTATION IN THE MITOCHONDRIAL ENCODED TRNA SERINE 2 (AGY): A POTENTIAL GENETIC MODIFIER IN CMT2 (2016) (0)
Episodic Ataxia Type 1: Natural History, Quality of Life and Patient-Reported Symptoms. (S32.004) (2015) (0)
A homoplasmic ND5 mutation associated with MELAS: mitochondria as ATP consumers? (2004) (0)
D.P.2.12 Episodic ataxia type 1 in identical twins (2008) (0)
QUANTITATIVE MAGNETIC RESONANCE IMAGING OF MUSCLE IN CHARCOT-MARIE-TOOTH DISEASE 1A-A POTENTIAL OUTCOME MEASURE (2011) (0)
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing (2022) (0)
BASELINE CHARACTERISTICS OF A PROSPECTIVE NATURAL HISTORY STUDY OF SPORADIC INCLUSION BODY MYOSITIS INCLUDING MRI ASSESSMENT (2016) (0)
Screening for mutations causing episodic ataxia type 1 (EA1) and 2 (EA2) (2009) (0)
Models of mitochondrial disease. (2002) (0)
The role of the brain P/Q-type calcium channel in human epilepsy (2006) (0)
A pathological RNASEH1 mutant causes R-loop depletion and aberrant DNA segregation in mitochondria (2017) (0)
Muscle degeneration due to skeletal ion channel dysfunction (2012) (0)
Episodic ataxia type 1 in twins: Genotype-phenotype correlation (2008) (0)
TOLL-LIKE RECEPTOR ANTAGONISM AS A NOVEL ANTI-INFLAMMATORY THERAPEUTIC APPROACH FOR DUCHENNE MUSCULAR DYSTROPHY (2015) (0)
MELAS, a young-onset stroke disorder associated with a homoplasmic ND5 mitochondrial DNA mutation (2005) (0)
M08 In vitro modelling of mitochondrial disease using human induced pluripotent stem cell (hIPSC) derived myotubes harbouring mtDNA mutations (2018) (0)
P36 Progesterone reduces and shifts the voltage dependence of the skeletal muscle chloride conductance (2012) (0)
P46 Quantification of grip myotonia using a novel accelerometer device: a pilot study (2010) (0)
Comparative human mitochondrial genome analysis using the Affymetrix MitoChip and conventional cycle sequencing (2008) (0)
Two novel mutations in the CACNA1A gene leading to identical functional consequences but with different phenotypic expression. (2002) (0)
Acute neurology (vol 7, pg 272, 2007) (2007) (0)
Next Generation Sequencing as a potential diagnostic tool for mitochondrial DNA diseases (2012) (0)
OPTIMISING THE IVIG SERVICE: AN AUDIT OF MONITORING AND DOSAGE (2016) (0)
POG07 Natural history trials of neurological channelopathies (2010) (0)
098 Developing new therapeutic strategies for inclusion body myositis (2012) (0)
OD15 Next generation sequencing in inherited myopathies (2017) (0)
Mitochondrial impairment and rescue in riboflavin responsive neuropathy (2017) (0)
Evidence of nerve hypertrophy in patients with inclusion body myositis on lower limb MRI (2022) (0)
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia (2016) (0)
P43 Functional characterisation of the novel CLC-1 variants C179Y and A529V using Two-Electrode-Voltage-Clamp and review of ClC-1 structure–function (2014) (0)
Myotonia and Paralysis-Two Syndromes, One Diagnosis (2017) (0)
New mutations in the voltage-gated calcium channel gene CACNA1A in british families with episodic ataxia type 2. (1999) (0)
PN03 Mitochondrial dysfunction in a treatable childhood neuronopathy (2017) (0)
223 Anderson tawil syndrome: expanding the phenotype and assessing cardiac risk (2019) (0)
Advances in methods to analyse cardiolipin and their clinical applications (2022) (0)
Edinburgh Research Explorer Sodium and chloride channelopathies with myositis (2017) (0)
A novel heteroplasmic point mutation in cytochrome c oxidase (COX) subunit II associated with mitochondrial myopathy and COX deficiency (1998) (0)
XV CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Naples, Italy - May 20-23, 2015 - Program (Summary) (2015) (0)
35. Peripheral nerve excitability testing shows distinctive ion channel dysfunction in patients with KCNQ2 mutations and epilepsy (2010) (0)
Clinical and Molecular Characterization of Non-Dystrophic Myotonia (2012) (0)
Strong correlation between 6 minute walk distance (6MWD) and hamstring average fat fraction, r = −.79 (p<0.01). (2014) (0)

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