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Lista de obras de 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.

artículo científico publicado en 2016

A case of necrotizing myopathy with proximal weakness and cardiomyopathy

artículo científico publicado en 2012

A diagnostic conundrum.

artículo científico publicado en 2018

A form of muscular dystrophy associated with pathogenic variants in JAG2

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2000

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 1999

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.

artículo científico publicado en 2009

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

artículo científico publicado el 1 de octubre de 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Absence of disturbed axonal transport in spinal and bulbar muscular atrophy

artículo científico publicado en 2011

Abstracts

artículo científico

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

Aggressive CNS lupus vasculitis in the absence of systemic disease activity

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 1999

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

artículo científico publicado en 2013

Andersen-Tawil Syndrome Presenting with Complete Heart Block

artículo científico publicado en 2020

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

artículo científico publicado en 2005

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2007

Chloride channels in myotonia congenita assessed by velocity recovery cycles

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2000

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

artículo científico publicado en 2013

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

artículo científico publicado en 2017

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2017

Correcting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps.

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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.

artículo científico publicado en 1998

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms

artículo científico publicado en 2000

De novo KCNA2 mutations cause hereditary spastic paraplegia

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 1997

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 1999

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2002

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

Episodic ataxia type 1: a neuronal potassium channelopathy

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2020

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

artículo científico publicado en 2004

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2021

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

artículo científico publicado en 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.

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 2012

Genetic neurological channelopathies: molecular genetics and clinical phenotypes

artículo científico publicado en 2015

Genetic neuromuscular disease.

artículo científico publicado en 2002

Genetics of epilepsy: epilepsy research foundation workshop report

artículo científico publicado en 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

artículo científico publicado en 2014

Graphical modelling of molecular networks underlying sporadic inclusion body myositis.

artículo científico publicado en 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

artículo científico publicado en 2020

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

artículo científico publicado en 2017

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

artículo científico publicado en 2001

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 1995

Improved anatomical reproducibility in quantitative lower-limb muscle MRI.

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2010

Innovative care model for patients with complex muscle diseases

artículo científico

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.

artículo científico publicado en 2003

Interrater reliability and aspects of validity of the myositis damage index

artículo científico publicado en 2011

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

artículo científico publicado en 2019

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

artículo científico publicado en 1998

Is it really myositis? A consideration of the differential diagnosis

artículo científico publicado en 2004

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

artículo científico publicado en 2003

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 1998

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

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2018

MYO-MRI diagnostic protocols in genetic myopathies

artículo científico publicado en 2019

Managing pregnancy and anaesthetics in patients with skeletal muscle channelopathies

artículo científico publicado en 2020

Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2007

Mitochondrial disease: mutations and mechanisms.

artículo científico publicado en 2004

Models of mitochondrial disease

artículo científico publicado en 2002

Movement disorders and mitochondrial dysfunction ⬇️

artículo científico publicado el 1 de agosto de 1997

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 2019

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

artículo científico

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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

Neurological disorders caused by inherited ion-channel mutations

artículo científico publicado en 2002

Neurological picture. Spontaneous intracranial hypotension, hygromata and haematomata

artículo científico publicado en 2008

Neuromuscular diseases: progress in gene discovery drives diagnostics and therapeutics

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance

artículo científico publicado en 2005

Normokalemic periodic paralysis revisited: does it exist?

artículo científico publicado en 2002

Novel Insights into the Pathomechanisms of Skeletal Muscle Channelopathies ⬇️

artículo científico publicado el 1 de febrero de 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

Ongoing developments in sporadic inclusion body myositis

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Paroxysmal neuromyotonia: a new sporadic channelopathy

artículo científico publicado en 2012

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

artículo científico publicado en 2014

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

artículo científico publicado en 2006

Phenotypic variation of a new P0 mutation in genetically identical twins

artículo científico publicado en 1999

Plasma pNfH levels differentiate SBMA from ALS

artículo científico publicado en 2019

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

artículo científico publicado en 2003

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

Prevalence study of genetically defined skeletal muscle channelopathies in England ⬇️

artículo científico publicado el 20 de marzo de 2013

Primary episodic ataxias: diagnosis, pathogenesis and treatment

artículo científico publicado en 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 ⬇️

artículo científico publicado el 1 de enero de 2003

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Review of the Diagnosis and Treatment of Periodic Paralysis.

artículo científico publicado en 2017

Running a neurogenetic clinic

artículo científico publicado en 2002

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

artículo científico publicado en 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).

artículo científico publicado en 1998

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2003

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

artículo científico publicado en 2012

Skeletal Muscle Channelopathies

scientific article published on 01 August 2020

Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms

artículo científico publicado en 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.

artículo científico publicado en 2011

Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis

artículo científico publicado en 2010

Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias

artículo científico publicado en 2007

Sodium and chloride channelopathies with myositis: coincidence or connection?

artículo científico publicado en 2011

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

artículo científico publicado en 2001

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

artículo científico publicado en 2020

Spider toxin inhibits gating pore currents underlying periodic paralysis

artículo científico publicado en 2018

Spontaneous intracranial hypotension, hygromata and haematomata

artículo científico publicado en 2009

Sporadic inclusion body myositis: an unsolved mystery.

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Stridor as a neonatal presentation of skeletal muscle sodium channelopathy

artículo científico publicado en 2011

Targeting protein homeostasis in sporadic inclusion body myositis

artículo científico publicado en 2016

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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.

artículo científico publicado en 2009

The primary periodic paralyses: diagnosis, pathogenesis and treatment

artículo científico publicado en 2005

The skeletal muscle channelopathies: distinct entities and overlapping syndromes

artículo científico publicado en 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.

artículo científico publicado en 2014

Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures

artículo científico publicado en 2016

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

artículo científico publicado en 1997

Update in inclusion body myositis

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2002

Vestibular dysfunction: a frequent problem for adults with mitochondrial disease

artículo científico publicado en 2018

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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