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List of works by Michael Hanna

173 Transcriptional phenotypes of a human stem cell model of Spinal Bulbar Muscular Atrophy (SBMA)

scientific article published in 2022

234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8-10 December 2017

scientific article published on 25 September 2018

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

scientific article published on 6 January 2016

A case of necrotizing myopathy with proximal weakness and cardiomyopathy

scientific article published on 01 May 2012

A diagnostic conundrum.

scientific article

A form of muscular dystrophy associated with pathogenic variants in JAG2

scientific article published on 15 April 2021

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy

scientific journal article

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1

scientific article

A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study

scientific article

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

scientific article published on 01 March 1995

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

scientific article published on 01 December 2018

A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.

scientific article published on 8 June 2016

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

scientific article published on 22 May 2020

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

article

A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance

scientific article published on 01 October 2000

A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.

scientific article published on September 2009

A quantitative measure of handgrip myotonia in non‐dystrophic myotonia ⬇️

scientific article published on October 1, 2012

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

scientific article published on 11 December 2015

A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis

scientific article

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

scientific article published on 12 June 2013

Absence of disturbed axonal transport in spinal and bulbar muscular atrophy

scientific article

Abstracts

scientific article published on 31 August 2017

Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy

scientific article published on 16 May 2018

Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype

scientific article published on 16 November 2011

Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history

scientific article published in March 2005

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

scientific article published on 08 February 2019

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

scientific article

Aggressive CNS lupus vasculitis in the absence of systemic disease activity

scientific article published on 22 November 2007

An interactive voice response diary for patients with non-dystrophic myotonia

scientific article published on July 2011

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

scientific article

An unusual presentation for SOD1-ALS: isolated facial diplegia.

scientific article published in December 2013

Andersen-Tawil Syndrome Presenting with Complete Heart Block

scientific article published on 13 October 2020

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

scientific article

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

scientific article published on 3 January 2018

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

scientific article published on 01 April 2019

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

scientific article

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

scientific article published on 11 May 2016

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

scientific article

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

scientific article published on 04 September 2019

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

scientific article published on 11 October 2007

Chloride channels in myotonia congenita assessed by velocity recovery cycles

scientific article published on 02 May 2014

Chronic pain is common in mitochondrial disease

scientific article published on 29 February 2020

Classical mitochondrial phenotypes without mtDNA mutations: The possible role of nuclear genes

article

Clinical and pathological heterogeneity in late-onset partial merosin deficiency

scientific article published in October 2011

Clinical neurophysiology of the episodic ataxias: insights into ion channel dysfunction in vivo

scientific article published on 05 September 2009

Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita

scientific article

Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.

scientific article

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

scientific article

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

scientific article

Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy

scientific article

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

scientific article published on 08 March 2019

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation

scientific article published on May 1995

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.

scientific article published on 8 February 2017

Correcting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps.

scientific article published on 27 July 2011

Correlation of clinical and molecular features in spinal bulbar muscular atrophy.

scientific article

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

scientific journal article

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

scientific article

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms

scientific article published on 01 March 2000

De novo KCNA2 mutations cause hereditary spastic paraplegia

scientific article published on 01 February 2017

Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia

scientific article published on 9 March 2013

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

scientific article published on 11 September 2015

Depletion of mitochondrial DNA by ddC in untransformed human cell lines.

scientific article published on July 1997

Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice

scientific article published on 09 March 2020

Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1

scientific article published on 17 April 2019

Diagnosis and new treatment in muscle channelopathies.

scientific article published on April 2009

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

scientific article published on September 2009

Diagnostic utility of metabolic exercise testing in a patient with cardiovascular disease

scientific article

Differential Diagnoses of Inclusion Body Myositis

scientific article published on 01 August 2020

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

scientific article published on 31 October 2019

Disease specificity of autoantibodies to cytosolic 5'-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases

scientific article

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

scientific article published on 29 August 2012

Distal myopathy with tubular aggregates: a new phenotype associated with multiple deletions in mitochondrial DNA?

scientific article published on August 2002

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

scientific article published on 30 November 2017

Drug repurposing in neurological diseases: an integrated approach to reduce trial and error

scientific article published on 06 June 2019

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

scientific article published on 5 April 2018

Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias

scientific article published on 18 January 2010

Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia

scientific article published on 13 October 2004

Endoplasmic reticulum stress in spinal and bulbar muscular atrophy: a potential target for therapy

scientific article

Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation

scientific article published in December 2007

Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release

scientific article published on 24 September 2009

Episodic ataxia type 1: a neuronal potassium channelopathy

scientific article published on April 2007

Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation

scientific article published on 26 February 2014

Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity

scientific article published on 02 May 2008

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

scientific article published on 07 January 2020

Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia

scientific article

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

scientific article

FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion

scientific article published on 9 October 2012

Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.

scientific article published on 27 March 2017

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

scientific article published on 21 August 2015

Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups

scientific article published on 28 May 2019

Forecasting stroke-like episodes and outcomes in mitochondrial disease

scientific article published in 2021

Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy

scientific article published in April 1999

Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy

article

Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion

article

Genetic advances in sporadic inclusion body myositis.

scientific article published on September 2015

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

scientific article published on 13 May 2017

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy

scientific article published on 15 February 2010

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

scientific article published on 19 August 2019

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

scientific article

Genetic neurological channelopathies: molecular genetics and clinical phenotypes

scientific article

Genetic neuromuscular disease.

scientific article

Genetics of epilepsy: epilepsy research foundation workshop report

scientific article published in June 2007

Genotype-phenotype association in patients with SCN4A mutation - Authors' reply

scientific article published on 06 June 2019

Global opportunities and challenges for clinical neuroscience

scientific article published on 01 April 2014

Graphical modelling of molecular networks underlying sporadic inclusion body myositis.

scientific article published on 17 April 2013

Guidelines on clinical presentation and management of non-dystrophic myotonias

scientific article published on 08 April 2020

Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome

scientific article published on 02 June 2020

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

scientific article

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

scientific article

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.

scientific article published on 26 June 2018

Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum

scientific article published on 13 January 2017

Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA

scientific article published on 01 June 1995

Improved anatomical reproducibility in quantitative lower-limb muscle MRI.

scientific article published on 7 October 2013

Improving genetic diagnostics of skeletal muscle channelopathies

scientific article published on 12 July 2020

Improving specialised care for neuromuscular patients reduces the frequency of preventable emergency hospital admissions

scientific article published on 04 December 2019

In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis

scientific article published on 27 January 2020

In vivo assessment of muscle membrane properties in myotonic dystrophy

scientific article published on 20 January 2016

In vivo assessment of muscle membrane properties in the sodium channel myotonias

scientific article published on 6 September 2017

In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.

scientific article published on February 2016

In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission

scientific article

Inclusion body myositis: MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008

scientific article published on 13 January 2010

Increased risk of stroke in patients with the A12308G polymorphism in mitochondria

scientific article published on 01 December 2000

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

scientific article published on 3 December 2010

Innovative care model for patients with complex muscle diseases

scientific article published on October 2014

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.

scientific article

Interrater reliability and aspects of validity of the myositis damage index

scientific article

Intrafamilial Phenotypic Variability in Friedreich Ataxia Associated With a G130V Mutation in the FRDA Gene

article

Investigation of the psychometric properties of the inclusion body myositis functional rating scale with rasch analysis

scientific article published in August 2019

Ion channels and neurological disease: DNA based diagnosis is now possible, and ion channels may be important in common paroxysmal disorders

scientific article published on October 1998

Is it really myositis? A consideration of the differential diagnosis

scientific article

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

scientific article published on 01 January 2003

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

scientific article published on 4 March 2011

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.

scientific article

Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.

scientific article

Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies

scientific article published in December 2015

Longitudinal observational study of sporadic inclusion body myositis: implications for clinical trials

scientific article

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

scientific article published on 22 December 2015

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity

scientific article

MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide

scientific article published on 10 July 2017

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.

scientific article published on 18 September 2013

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

scientific article

MRI shows increased sciatic nerve cross sectional area in inherited and inflammatory neuropathies

scientific article published on 22 October 2010

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

scientific article published on 01 August 2019

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

scientific article published on 24 February 2018

MYO-MRI diagnostic protocols in genetic myopathies

scientific article published on 16 September 2019

Managing pregnancy and anaesthetics in patients with skeletal muscle channelopathies

scientific article published on 28 May 2020

Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

scientific article published in April 2010

Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles

scientific article published in August 2012

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

scientific article published on 31 October 2020

Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial

scientific article published on October 2012

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

publication published on 01 April 2021

Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption

scientific article

Mitochondrial disease: mutations and mechanisms.

scientific article published on March 2004

Models of mitochondrial disease

scientific article

Movement disorders and mitochondrial dysfunction ⬇️

scientific article published on August 1, 1997

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

scientific article

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study

scientific article published in November 2007

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant

scientific article published on 18 March 2020

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

scientific article published on 27 June 2013

Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches

scientific article published on 03 March 2020

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy.

scientific article published on 20 February 2019

Muscle channelopathies: recent advances in genetics, pathophysiology and therapy.

scientific article published on October 2014

Muscle weakness, palpitations and a small chin: the Andersen-Tawil syndrome

scientific article published on August 2010

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

scientific article published on 05 September 2020

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

scientific article published on 23 June 2015

Mutations in SCN4A: A Rare but Treatable Cause of Recurrent Life-Threatening Laryngospasm

scientific article published on 13 October 2014

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

scientific article published on 22 February 2018

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

scientific article published on 15 December 2011

Myasthenic congenital myopathy from recessive mutations at a single residue in Na1.4

scientific article published on 01 March 2019

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation

scientific article published on 26 November 2019

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

scientific article

Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.

scientific article

Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype

scientific article

Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.

scientific article

Neurological disorders caused by inherited ion-channel mutations

scientific article

Neurological picture. Spontaneous intracranial hypotension, hygromata and haematomata

scientific article published on 01 April 2008

Neuromuscular diseases: progress in gene discovery drives diagnostics and therapeutics

scientific article published on 01 January 2015

New calcium channel mutations predict aberrant RNA splicing in episodic ataxia

scientific article published on 01 July 2005

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.

scientific article published on 14 November 2012

New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

scientific article published in May 2005

New treatments for mitochondrial disease-no time to drop our standards

scientific article published on 02 July 2013

Non-dystrophic myotonia: prospective study of objective and patient reported outcomes

scientific article published on 13 June 2013

Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita

scientific article published on 23 September 2008

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins

scientific article

Nongenomic actions of progesterone and 17β-estradiol on the chloride conductance of skeletal muscle

scientific article published on 30 August 2013

Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance

scientific article published on 01 March 2005

Normokalemic periodic paralysis revisited: does it exist?

scientific article

Novel Insights into the Pathomechanisms of Skeletal Muscle Channelopathies ⬇️

scientific article published on February 1, 2012

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

scientific article published in March 2009

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

scientific article

Ongoing developments in sporadic inclusion body myositis

scientific article

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

scientific article published on 01 May 2006

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

scientific article

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

scientific article

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

scientific article published on 29 October 2014

Paroxysmal neuromyotonia: a new sporadic channelopathy

scientific article published on 03 February 2012

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

scientific article published in August 2019

Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria

scientific article published on 08 July 2016

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

scientific article

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

scientific article

Phenotypic variation of a new P0 mutation in genetically identical twins

scientific article published on 01 July 1999

Plasma pNfH levels differentiate SBMA from ALS

scientific article published on 01 October 2019

Polyphenotypic expression of mitochondrial toxicity caused by nucleoside reverse transcriptase inhibitors.

scientific article published in June 2003

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

scientific article published on 01 July 2019

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene

scientific article

Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2.

scientific article published on 19 June 2008

Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease

scientific article published in February 2010

Prevalence study of genetically defined skeletal muscle channelopathies in England ⬇️

scientific article published on March 20, 2013

Primary episodic ataxias: diagnosis, pathogenesis and treatment

scientific article published on 15 June 2007

Primary mitochondrial diseases increase susceptibility to bipolar affective disorder

scientific article published on 11 June 2020

Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia ⬇️

scientific article published on January 1, 2003

Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study

scientific article published on 28 February 2014

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study

scientific article

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

scientific article

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.

scientific article published on 10 February 2016

Rare disease centers for periodic paralysis: China versus the United States and United Kingdom

scientific article published on February 2014

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

scientific article published on 08 August 2016

Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies

scientific article

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

scientific article published in June 2013

Reproducibility, and age, body-weight and gender dependency of candidate skeletal muscle MRI outcome measures in healthy volunteers

scientific article

Review of the Diagnosis and Treatment of Periodic Paralysis.

scientific article published on 10 November 2017

Running a neurogenetic clinic

scientific article published on December 2002

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

scientific article published on 14 September 2016

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial

scientific article published on 01 September 2019

Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).

scientific article

Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy.

scientific article published on 26 January 2018

Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.

scientific article published on 13 September 2013

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

scientific article

Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice

scientific article published on 09 May 2012

Skeletal Muscle Channelopathies

scientific article published on 01 August 2020

Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms

scientific article published on 26 June 2017

Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity

scientific article published on 07 August 2019

Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies.

scientific article

Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis

scientific article published on October 2010

Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias

scientific article published on October 2007

Sodium and chloride channelopathies with myositis: coincidence or connection?

scientific article

Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK

scientific article published on 01 October 2001

Sodium channel myotonia may be associated with high-risk brief resolved unexplained events

scientific article published on 31 March 2020

Spider toxin inhibits gating pore currents underlying periodic paralysis

scientific article published on 10 April 2018

Spontaneous intracranial hypotension, hygromata and haematomata

scientific article

Sporadic inclusion body myositis: an unsolved mystery.

scientific article published on April 2009

Sporadic inclusion body myositis: the genetic contributions to the pathogenesis.

scientific article

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

scientific article (publication date: December 2016)

Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita

scientific article published on 24 August 2012

Stridor as a neonatal presentation of skeletal muscle sodium channelopathy

scientific article published on 01 January 2011

Targeting protein homeostasis in sporadic inclusion body myositis

scientific article

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

scientific article published on 26 June 2018

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

scientific article published on 25 January 2013

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

scientific article published on 04 July 2018

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

scientific article published in May 2010

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

scientific article

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

article

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

scientific article published on 01 June 1995

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

scientific article

The primary periodic paralyses: diagnosis, pathogenesis and treatment

scientific article

The skeletal muscle channelopathies: distinct entities and overlapping syndromes

scientific article published on 01 October 2003

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease

article

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

scientific article

Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures

scientific article published in December 2016

Two unusual clinical presentations of the mitochondrial DNA A3243G point mutation in adult neurological practice

scientific article published on May 1997

Update in inclusion body myositis

scientific article

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

scientific article

Urogenital symptoms in mitochondrial disease: overlooked and undertreated

scientific article published on 30 April 2019

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

scientific article published on 04 November 2021

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases

scientific article published on 08 July 2019

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

scientific article published on 17 August 2018

Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1

scientific article

Vestibular dysfunction: a frequent problem for adults with mitochondrial disease

scientific article published on 26 November 2018

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

scientific article

What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed

scientific article published in January 2008

Whole-genome sequencing and the clinician: a tale of two cities

scientific article

Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy

scientific article published on 30 December 2013

Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1).

scientific article published on 14 February 2015

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