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JA Morgan-Hughes

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Teeratorn Pulkes; Danae Liolitsa; Louise H Eunson; M Rose; Isabelle P Nelson; Shamina Rahman; Joanna Poulton; David R Marchington; David N Landon; A G Debono; JA Morgan-Hughes; Michael G Hanna
New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.
Teeratorn Pulkes; A Siddiqui; JA Morgan-Hughes; Michael G Hanna
A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance.
Teeratorn Pulkes; Louise H Eunson; V Patterson; A Siddiqui; Nicholas W Wood; Isabelle P Nelson; JA Morgan-Hughes; Michael G Hanna
The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.

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All Publications

2005: Teeratorn Pulkes; Danae Liolitsa; Louise H Eunson; M Rose; Isabelle P Nelson; Shamina Rahman; Joanna Poulton; David R Marchington; David N Landon; A G Debono; JA Morgan-Hughes; Michael G Hanna
New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.
Neuromuscular disorders : NMD 2005;15(5):364-71.
2000: Teeratorn Pulkes; A Siddiqui; JA Morgan-Hughes; Michael G Hanna
A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance.
Neurology 2000;55(8):1210-2.
1999: Teeratorn Pulkes; Louise H Eunson; V Patterson; A Siddiqui; Nicholas W Wood; Isabelle P Nelson; JA Morgan-Hughes; Michael G Hanna
The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.
Annals of neurology 1999;46(6):916-9.
1999: Antoni L Andreu; Michael G Hanna; Heinz Reichmann; Claudio Bruno; A S Penn; Kurenai Tanji; Francesco Pallotti; S Iwata; Eduardo Bonilla; B Lach; JA Morgan-Hughes; Salvatore DiMauro
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.
The New England journal of medicine 1999;341(14):1037-44.
1999: JA Morgan-Hughes; Michael G Hanna
Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype.
Biochimica et biophysica acta 1999;1410(2):125-45.
1998: Michael G Hanna; Isabelle P Nelson; JA Morgan-Hughes; Nicholas W Wood
MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.
Journal of neurology, neurosurgery, and psychiatry 1998;65(4):512-7.
1998: P J Lamont; V Dubowitz; David N Landon; M Davis; JA Morgan-Hughes
Fifty year follow-up of a patient with central core disease shows slow but definite progression.
Neuromuscular disorders : NMD 1998;8(6):385-91.
1998: Michael G Hanna; J Stewart; Anthony H V Schapira; Nicholas W Wood; JA Morgan-Hughes; Nicholas M F Murray
Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).
Journal of neurology, neurosurgery, and psychiatry 1998;65(2):248-50.
1998: Michael G Hanna; Isabelle P Nelson; Shamina Rahman; R J Lane; John M Land; Simon J R Heales; M J Cooper; Anthony H V Schapira; JA Morgan-Hughes; Nicholas W Wood
Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.
American journal of human genetics 1998;63(1):29-36.
1997: R A Wright; G T Plant; David N Landon; JA Morgan-Hughes
Nemaline myopathy: an unusual cause of ophthalmoparesis.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 1997;17(1):39-43.
1997: M R Rose; David N Landon; A Papadimitriou; JA Morgan-Hughes
A rapidly progressive adolescent-onset oculopharyngeal somatic syndrome with rimmed vacuoles in two siblings.
Annals of neurology 1997;41(1):25-31.
1996: R M Chalmers; M Brockington; R S Howard; B R Lecky; JA Morgan-Hughes; AE Harding
Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features.
Journal of the neurological sciences 1996;143(1-2):41-5.
1995: M Brockington; N Alsanjari; Mary G Sweeney; JA Morgan-Hughes; Francesco Scaravilli; AE Harding
Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study.
Journal of the neurological sciences 1995;131(1):78-87.
1995: Michael G Hanna; Isabelle P Nelson; JA Morgan-Hughes; AE Harding
Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A-->G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA.
Journal of the neurological sciences 1995;130(2):154-60.
1995: S R Hammans; Mary G Sweeney; Michael G Hanna; M Brockington; JA Morgan-Hughes; AE Harding
The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.
Brain : a journal of neurology 1995;118 ( Pt 3)():721-34.
1995: JA Morgan-Hughes; Mary G Sweeney; J Mark Cooper; S R Hammans; M Brockington; Anthony H V Schapira; AE Harding; John B Clark
Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.
Biochimica et biophysica acta 1995;1271(1):135-40.
1995: Michael G Hanna; Isabelle P Nelson; Mary G Sweeney; J Mark Cooper; P J Watkins; JA Morgan-Hughes; AE Harding
Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.
American journal of human genetics 1995;56(5):1026-33.
1995: R W Orrell; P J Amrolia; A Heald; P G Cleland; J S Owen; JA Morgan-Hughes; AE Harding; CD Marsden
Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome).
Neurology 1995;45(3 Pt 1):487-92.
1995: Isabelle P Nelson; Michael G Hanna; N Alsanjari; Francesco Scaravilli; JA Morgan-Hughes; AE Harding
A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study.
Annals of neurology 1995;37(3):400-3.
1994: JA Morgan-Hughes
Mitochondrial diseases of muscle.
Current opinion in neurology 1994;7(5):457-62.
1994: Mary G Sweeney; S R Hammans; L W Duchen; J Mark Cooper; Anthony H V Schapira; C R Kennedy; J M Jacobs; B D Youl; JA Morgan-Hughes; AE Harding
Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy.
Journal of the neurological sciences 1994;121(1):57-65.
1993: Mary G Sweeney; M Brockington; M J Weston; JA Morgan-Hughes; AE Harding
Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy.
The Quarterly journal of medicine 1993;86(7):435-8.
1993: S R Hammans; Mary G Sweeney; M Brockington; G G Lennox; N F Lawton; C R Kennedy; JA Morgan-Hughes; AE Harding
The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.
Brain : a journal of neurology 1993;116 ( Pt 3)():617-32.
1993: M Brockington; Mary G Sweeney; S R Hammans; JA Morgan-Hughes; AE Harding
A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies.
Nature genetics 1993;4(1):67-71.
1993: M R Rose; R S Howard; S A Genet; C J McMahon; A Whitfield; JA Morgan-Hughes
A case of myopathy associated with a dystrophin gene deletion and abnormal glycogen storage.
Muscle & nerve 1993;16(1):57-62.
1992: J Mark Cooper; D J Hayes; R A Challiss; JA Morgan-Hughes; John B Clark
Treatment of experimental NADH ubiquinone reductase deficiency with menadione.
Brain : a journal of neurology 1992;115 ( Pt 4)():991-1000.
1992: A M Haines; J Mark Cooper; JA Morgan-Hughes; John B Clark; Anthony H V Schapira
One-step immunoaffinity purification of complex I subunits from beef heart mitochondria.
Protein expression and purification 1992;3(3):223-7.
1992: S R Hammans; Mary G Sweeney; D A Wicks; JA Morgan-Hughes; AE Harding
A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies.
Brain : a journal of neurology 1992;115 ( Pt 2)():343-65.
1992: S R Hammans; Mary G Sweeney; I J Holt; J Mark Cooper; A Toscano; John B Clark; JA Morgan-Hughes; AE Harding
Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy.
Journal of the neurological sciences 1992;107(1):87-92.
1991: S R Hammans; Mary G Sweeney; M Brockington; JA Morgan-Hughes; AE Harding
Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples.
Lancet 1991;337(8753):1311-3.
1991: David J Burn; J Ball; Andrew J Lees; P O Behan; JA Morgan-Hughes
A case of progressive encephalomyelitis with rigidity and positive antiglutamic acid decarboxylase antibodies [corrected].
Journal of neurology, neurosurgery, and psychiatry 1991;54(5):449-51.
1991: JA Morgan-Hughes; J Mark Cooper; Anthony H V Schapira; M Sweeny; I J Holt; AE Harding; John B Clark
The molecular pathology of human respiratory chain defects.
Revue neurologique 1991;147(6-7):450-4.
1990: JA Morgan-Hughes; J Mark Cooper; I J Holt; AE Harding; Anthony H V Schapira; John B Clark
Mitochondrial myopathies: clinical defects.
Biochemical Society transactions 1990;18(4):523-6.
1990: AE Harding; I J Holt; J Mark Cooper; Anthony H V Schapira; M Sweeney; John B Clark; JA Morgan-Hughes
Mitochondrial myopathies: genetic defects.
Biochemical Society transactions 1990;18(4):519-22.
1990: J Mark Cooper; Anthony H V Schapira; I J Holt; A Toscano; AE Harding; JA Morgan-Hughes; John B Clark
Biochemical and molecular aspects of human mitochondrial respiratory chain disorders.
Biochemical Society transactions 1990;18(4):517-9.
1990: JA Morgan-Hughes; Anthony H V Schapira; J Mark Cooper; I J Holt; AE Harding; John B Clark
The molecular pathology of respiratory-chain dysfunction in human mitochondrial myopathies.
Biochimica et biophysica acta 1990;1018(2-3):217-22.
1990: Anthony H V Schapira; J Mark Cooper; JA Morgan-Hughes; David N Landon; John B Clark
Mitochondrial myopathy with a defect of mitochondrial-protein transport.
The New England journal of medicine 1990;323(1):37-42.
1990: Anthony H V Schapira; J Mark Cooper; L Manneschi; C Vital; JA Morgan-Hughes; John B Clark
A mitochondrial encephalomyopathy with specific deficiencies of two respiratory chain polypeptides and a circulating autoantibody to a mitochondrial matrix protein.
Brain : a journal of neurology 1990;113 ( Pt 2)():419-32.
1990: I J Holt; AE Harding; R K Petty; JA Morgan-Hughes
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
American journal of human genetics 1990;46(3):428-33.
1990: D D Truong; AE Harding; Francesco Scaravilli; S J Smith; JA Morgan-Hughes; CD Marsden
Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies.
Movement disorders : official journal of the Movement Disorder Society 1990;5(2):109-17.
1989: I J Holt; AE Harding; J Mark Cooper; Anthony H V Schapira; A Toscano; John B Clark; JA Morgan-Hughes
Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA.
Annals of neurology 1989;26(6):699-708.
1989: E Byrne; JA Morgan-Hughes
Prolonged aerobic exercise: physiological studies in rat gastrocnemius with additional observations on the effects of acute mitochondrial blockade.
Journal of the neurological sciences 1989;92(2-3):215-27.
1989: I J Holt; AE Harding; JA Morgan-Hughes
Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms.
Nucleic acids research 1989;17(12):4465-9.
1988: Richard S J Frackowiak; S Herold; R K Petty; JA Morgan-Hughes
The cerebral metabolism of glucose and oxygen measured with positron tomography in patients with mitochondrial diseases.
Brain : a journal of neurology 1988;111 ( Pt 5)():1009-24.
1988: AE Harding; R K Petty; JA Morgan-Hughes
Mitochondrial myopathy: a genetic study of 71 cases.
Journal of medical genetics 1988;25(8):528-35.
1988: I J Holt; AE Harding; JA Morgan-Hughes
Mitochondrial DNA polymorphism in mitochondrial myopathy.
Human genetics 1988;79(1):53-7.
1988: I J Holt; AE Harding; JA Morgan-Hughes
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies.
Nature 1988;331(6158):717-9.
1988: J Mark Cooper; R K Petty; D J Hayes; JA Morgan-Hughes; John B Clark
Chronic administration of the oral hypoglycaemic agent diphenyleneiodonium to rats. An animal model of impaired oxidative phosphorylation (mitochondrial myopathy).
Biochemical pharmacology 1988;37(4):687-94.
1988: J Mark Cooper; R K Petty; D J Hayes; R A Challiss; M J Brosnan; E A Shoubridge; G K Radda; JA Morgan-Hughes; John B Clark
An animal model of mitochondrial myopathy: a biochemical and physiological investigation of rats treated in vivo with the NADH-CoQ reductase inhibitor, diphenyleneiodonium.
Journal of the neurological sciences 1988;83(2-3):335-47.
1988: JA Morgan-Hughes; Anthony H V Schapira; J Mark Cooper; D J Hayes; John B Clark
Human mitochondrial respiratory chain deficiencies.
Australian paediatric journal 1988;24 Suppl 1():55-7.
1987: JA Morgan-Hughes; J Mark Cooper; Anthony H V Schapira; D J Hayes; John B Clark
The mitochondrial myopathies. Defects of the mitochondrial respiratory chain and oxidative phosphorylation system.
Electroencephalography and clinical neurophysiology. Supplement 1987;39():103-14.
1986: R K Petty; AE Harding; JA Morgan-Hughes
The clinical features of mitochondrial myopathy.
Brain : a journal of neurology 1986;109 ( Pt 5)():915-38.
1986: B R Lecky; JA Morgan-Hughes; N M Murray; David N Landon; D Wray; C Prior
Congenital myasthenia: further evidence of disease heterogeneity.
Muscle & nerve 1986;9(3):233-42.
1985: M A Mullie; AE Harding; R K Petty; H Ikeda; JA Morgan-Hughes; M D Sanders
The retinal manifestations of mitochondrial myopathy. A study of 22 cases.
Archives of ophthalmology 1985;103(12):1825-30.
1985: JA Morgan-Hughes; D J Hayes; M Cooper; John B Clark
Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain.
Biochemical Society transactions 1985;13(4):648-50.
1985: E Byrne; D J Hayes; E A Shoubridge; JA Morgan-Hughes; John B Clark
Experimentally induced defects of mitochondrial metabolism in rat skeletal muscle. Biological effects of the mitochondrial uncoupling agent 2,4-dinitrophenol.
The Biochemical journal 1985;229(1):101-8.
1985: D J Hayes; E Byrne; E A Shoubridge; JA Morgan-Hughes; John B Clark
Experimentally induced defects of mitochondrial metabolism in rat skeletal muscle. Biological effects of the NADH: coenzyme Q reductase inhibitor diphenyleneiodonium.
The Biochemical journal 1985;229(1):109-17.
1984: D J Hayes; B R Lecky; David N Landon; JA Morgan-Hughes; John B Clark
A new mitochondrial myopathy. Biochemical studies revealing a deficiency in the cytochrome b-c1 complex (complex III) of the respiratory chain.
Brain : a journal of neurology 1984;107 ( Pt 4)():1165-77.
1984: John B Clark; D J Hayes; JA Morgan-Hughes; E Byrne
Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation.
Journal of inherited metabolic disease 1984;7 Suppl 1():62-8.
1983: John B Clark; D J Hayes; E Byrne; JA Morgan-Hughes
Mitochondrial myopathies: defects in mitochondrial metabolism in human skeletal muscle.
Biochemical Society transactions 1983;11(6):626-7.
1982: JA Morgan-Hughes; D J Hayes; John B Clark; David N Landon; M Swash; R J Stark; P Rudge
Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain.
Brain : a journal of neurology 1982;105 (Pt 3)():553-82.
1982: D J Hayes; B A Summers; JA Morgan-Hughes
Myoadenylate deaminase deficiency or not? Observations on two brothers with exercise-induced muscle pain.
Journal of the neurological sciences 1982;53(1):125-36.
1981: JA Morgan-Hughes; B R Lecky; David N Landon; N M Murray
Alterations in the number and affinity of junctional acetylcholine receptors in a myopathy with tubular aggregates. A newly recognized receptor defect.
Brain : a journal of neurology 1981;104(2):279-95.
1981: B R Lecky; JA Morgan-Hughes
Kinetic analysis of acetylcholine receptors (AChR) in normal and myasthenic human muscle.
Annals of the New York Academy of Sciences 1981;377():61-76.
1980: B R Lecky; JA Morgan-Hughes; David N Landon; N M Murray
Intercostal muscle acetylcholine receptors in longstanding ocular myasthenia.
Lancet 1980;2(8207):1311-2.