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Results: 1-25 |
Results: 25
TUBULAR AGGREGATES IN SKELETAL-MUSCLE - THEIR FUNCTIONAL-SIGNIFICANCEAND MECHANISMS OF PATHOGENESIS
Authors: MORGANHUGHES JA
Citation: Ja. Morganhughes, TUBULAR AGGREGATES IN SKELETAL-MUSCLE - THEIR FUNCTIONAL-SIGNIFICANCEAND MECHANISMS OF PATHOGENESIS, Current opinion in neurology, 11(5), 1998, pp. 439-442
50 YEAR FOLLOW-UP OF A PATIENT WITH CENTRAL CORE DISEASE SHOWS SLOW BUT DEFINITE PROGRESSION
Authors: LAMONT PJ DUBOWITZ V LANDON DN DAVIS M MORGANHUGHES JA
Citation: Pj. Lamont et al., 50 YEAR FOLLOW-UP OF A PATIENT WITH CENTRAL CORE DISEASE SHOWS SLOW BUT DEFINITE PROGRESSION, Neuromuscular disorders, 8(6), 1998, pp. 385-391
MELAS - A NEW DISEASE-ASSOCIATED MITOCHONDRIAL-DNA MUTATION AND EVIDENCE FOR FURTHER GENETIC-HETEROGENEITY
Authors: HANNA MG NELSON IP MORGANHUGHES JA WOOD NW
Citation: Mg. Hanna et al., MELAS - A NEW DISEASE-ASSOCIATED MITOCHONDRIAL-DNA MUTATION AND EVIDENCE FOR FURTHER GENETIC-HETEROGENEITY, Journal of Neurology, Neurosurgery and Psychiatry, 65(4), 1998, pp. 512-517
SALBUTAMOL TREATMENT IN A PATIENT WITH HYPERKALEMIC PERIODIC PARALYSIS DUE TO A MUTATION IN THE SKELETAL-MUSCLE SODIUM-CHANNEL GENE (SCN4A)
Authors: HANNA MG STEWART J SCHAPIRA AHV WOOD NW MORGANHUGHES JA MURRAY NMF
Citation: Mg. Hanna et al., SALBUTAMOL TREATMENT IN A PATIENT WITH HYPERKALEMIC PERIODIC PARALYSIS DUE TO A MUTATION IN THE SKELETAL-MUSCLE SODIUM-CHANNEL GENE (SCN4A), Journal of Neurology, Neurosurgery and Psychiatry, 65(2), 1998, pp. 248-250
CYTOCHROME-C-OXIDASE DEFICIENCY ASSOCIATED WITH THE FIRST STOP-CODON POINT MUTATION IN HUMAN MTDNA
Authors: HANNA MG NELSON IP RAHMAN S LANE RJM LAND J HEALES S COOPER MJ SCHAPIRA AHV MORGANHUGHES JA WOOD NW
Citation: Mg. Hanna et al., CYTOCHROME-C-OXIDASE DEFICIENCY ASSOCIATED WITH THE FIRST STOP-CODON POINT MUTATION IN HUMAN MTDNA, American journal of human genetics, 63(1), 1998, pp. 29-36
NEMALINE MYOPATHY - AN UNUSUAL CAUSE OF OPHTHALMOPARESIS
Authors: WRIGHT RA PLANT GT LANDON DN MORGANHUGHES JA
Citation: Ra. Wright et al., NEMALINE MYOPATHY - AN UNUSUAL CAUSE OF OPHTHALMOPARESIS, Journal of neuro-ophthalmology, 17(1), 1997, pp. 39-43
CYTOCHROME-C-OXIDASE DEFICIENCY ASSOCIATED WITH A NEW STOP CODON MUTATION IN MITOCHONDRIAL-DNA
Authors: HANNA MG NELSON IP RAHMAN S SCHAPIRA AHV MORGANHUGHES JA WOOD NW
Citation: Mg. Hanna et al., CYTOCHROME-C-OXIDASE DEFICIENCY ASSOCIATED WITH A NEW STOP CODON MUTATION IN MITOCHONDRIAL-DNA, Annals of neurology, 42(3), 1997, pp. 79-79
A RAPIDLY PROGRESSIVE ADOLESCENT-ONSET OCULOPHARYNGEAL SOMATIC SYNDROME WITH RIMMED VACUOLES IN 2 SIBLINGS
Authors: ROSE MR LANDON DN PAPADIMITRIOU A MORGANHUGHES JA
Citation: Mr. Rose et al., A RAPIDLY PROGRESSIVE ADOLESCENT-ONSET OCULOPHARYNGEAL SOMATIC SYNDROME WITH RIMMED VACUOLES IN 2 SIBLINGS, Annals of neurology, 41(1), 1997, pp. 25-31
GROWTH-HORMONE THERAPY MAY BENEFIT PROTEIN-METABOLISM IN MITOCHONDRIAL ENCEPHALOMYOPATHY
Authors: CARROLL PV UMPLEBY AM ALBANY E JACKSON NC MORGANHUGHES JA
Citation: Pv. Carroll et al., GROWTH-HORMONE THERAPY MAY BENEFIT PROTEIN-METABOLISM IN MITOCHONDRIAL ENCEPHALOMYOPATHY, Clinical endocrinology, 47(1), 1997, pp. 113-117
MITOCHONDRIAL ENCEPHALOPATHY WITH MULTIPLE MITOCHONDRIAL-DNA DELETIONS - A REPORT OF 2 FAMILIES AND 2 SPORADIC CASES WITH UNUSUAL CLINICAL AND NEUROPATHOLOGICAL FEATURES
Authors: CHALMERS RM BROCKINGTON M HOWARD RS LECKY BRF MORGANHUGHES JA HARDING AE
Citation: Rm. Chalmers et al., MITOCHONDRIAL ENCEPHALOPATHY WITH MULTIPLE MITOCHONDRIAL-DNA DELETIONS - A REPORT OF 2 FAMILIES AND 2 SPORADIC CASES WITH UNUSUAL CLINICAL AND NEUROPATHOLOGICAL FEATURES, Journal of the neurological sciences, 143(1-2), 1996, pp. 41-45
EXACERBATION OF IDIOPATHIC PARKINSONS-DISEASE BY NAPROXEN
Authors: SHAUNAK S BROWN P MORGANHUGHES JA
Citation: S. Shaunak et al., EXACERBATION OF IDIOPATHIC PARKINSONS-DISEASE BY NAPROXEN, BMJ. British medical journal, 311(7002), 1995, pp. 422-422
MITOCHONDRIAL-DNA (MTDNA) DISEASES - CORRELATION OF GENOTYPE TO PHENOTYPE
Authors: MORGANHUGHES JA SWEENEY MG COOPER JM HAMMANS SR BROCKINGTON M SCHAPIRA AHV HARDING AE CLARK JB
Citation: Ja. Morganhughes et al., MITOCHONDRIAL-DNA (MTDNA) DISEASES - CORRELATION OF GENOTYPE TO PHENOTYPE, Biochimica et biophysica acta. Molecular basis of disease, 1271(1), 1995, pp. 135-140
A NEW MITOCHONDRIAL-DNA MUTATION ASSOCIATED WITH PROGRESSIVE DEMENTIAAND CHOREA - A CLINICAL, PATHOLOGICAL, AND MOLECULAR-GENETIC STUDY
Authors: NELSON I HANNA MG ALSANJARI N SCARAVILLI F MORGANHUGHES JA HARDING AE
Citation: I. Nelson et al., A NEW MITOCHONDRIAL-DNA MUTATION ASSOCIATED WITH PROGRESSIVE DEMENTIAAND CHOREA - A CLINICAL, PATHOLOGICAL, AND MOLECULAR-GENETIC STUDY, Annals of neurology, 37(3), 1995, pp. 400-403
ACANTHOCYTOSIS, RETINITIS-PIGMENTOSA, AND PALLIDAL DEGENERATION - A REPORT OF 3 PATIENTS, INCLUDING THE 2ND REPORTED CASE WITH HYPOPREBETALIPOPROTEINEMIA (HARP-SYNDROME)
Authors: ORRELL RW AMROLIA PJ HEALD A CLELAND PG OWEN JS MORGANHUGHES JA HARDING AE MARSDEN CD
Citation: Rw. Orrell et al., ACANTHOCYTOSIS, RETINITIS-PIGMENTOSA, AND PALLIDAL DEGENERATION - A REPORT OF 3 PATIENTS, INCLUDING THE 2ND REPORTED CASE WITH HYPOPREBETALIPOPROTEINEMIA (HARP-SYNDROME), Neurology, 45(3), 1995, pp. 487-492
IMPAIRED MITOCHONDRIAL TRANSLATION IN HUMAN MYOBLASTS HARBORING THE MITOCHONDRIAL-DNA TRANSFER-RNA LYSINE-8344 A-]G (MERRF) MUTATION - RELATIONSHIP TO PROPORTION OF MUTANT MITOCHONDRIAL-DNA (VOL 130, PG 154, 1995)
Authors: HANNA MG NELSON IP MORGANHUGHES JA HARDING AE
Citation: Mg. Hanna et al., IMPAIRED MITOCHONDRIAL TRANSLATION IN HUMAN MYOBLASTS HARBORING THE MITOCHONDRIAL-DNA TRANSFER-RNA LYSINE-8344 A-]G (MERRF) MUTATION - RELATIONSHIP TO PROPORTION OF MUTANT MITOCHONDRIAL-DNA (VOL 130, PG 154, 1995), Journal of the neurological sciences, 132(1), 1995, pp. 95-95
KEARNS-SAYRE SYNDROME-ASSOCIATED WITH MITOCHONDRIAL-DNA DELETION OR DUPLICATION - A MOLECULAR-GENETIC AND PATHOLOGICAL-STUDY
Authors: BROCKINGTON M ALSANJARI N SWEENEY MG MORGANHUGHES JA SCARAVILLI F HARDING AE
Citation: M. Brockington et al., KEARNS-SAYRE SYNDROME-ASSOCIATED WITH MITOCHONDRIAL-DNA DELETION OR DUPLICATION - A MOLECULAR-GENETIC AND PATHOLOGICAL-STUDY, Journal of the neurological sciences, 131(1), 1995, pp. 78-87
IMPAIRED MITOCHONDRIAL TRANSLATION IN HUMAN MYOBLASTS HARBORING THE MITOCHONDRIAL-DNA TRANSFER-RNA LYSINE-8344 A-]G (MERRF) MUTATION - RELATIONSHIP TO PROPORTION OF MUTANT MITOCHONDRIAL-DNA
Authors: HANNA MG NELSON IP MORGANHUGHES JA HARDING AE
Citation: Mg. Hanna et al., IMPAIRED MITOCHONDRIAL TRANSLATION IN HUMAN MYOBLASTS HARBORING THE MITOCHONDRIAL-DNA TRANSFER-RNA LYSINE-8344 A-]G (MERRF) MUTATION - RELATIONSHIP TO PROPORTION OF MUTANT MITOCHONDRIAL-DNA, Journal of the neurological sciences, 130(2), 1995, pp. 154-160
THE MITOCHONDRIAL-DNA TRANSFER RNA(LEU(UUR)) A-]G((3243)) MUTATION - A CLINICAL AND GENETIC-STUDY
Authors: HAMMANS SR SWEENEY MG HANNA MG BROCKINGTON M MORGANHUGHES JA HARDING AE
Citation: Sr. Hammans et al., THE MITOCHONDRIAL-DNA TRANSFER RNA(LEU(UUR)) A-]G((3243)) MUTATION - A CLINICAL AND GENETIC-STUDY, Brain, 118, 1995, pp. 721-734
CONGENITAL ENCEPHALOMYOPATHY AND ADULT-ONSET MYOPATHY AND DIABETES-MELLITUS - DIFFERENT PHENOTYPIC ASSOCIATIONS OF A NEW HETEROPLASMIC MTDNA TRANSFER-RNA GLUTAMIC-ACID MUTATION
Authors: HANNA MG NELSON I SWEENEY MG COOPER JM WATKINS PJ MORGANHUGHES JA HARDING AE
Citation: Mg. Hanna et al., CONGENITAL ENCEPHALOMYOPATHY AND ADULT-ONSET MYOPATHY AND DIABETES-MELLITUS - DIFFERENT PHENOTYPIC ASSOCIATIONS OF A NEW HETEROPLASMIC MTDNA TRANSFER-RNA GLUTAMIC-ACID MUTATION, American journal of human genetics, 56(5), 1995, pp. 1026-1033
MITOCHONDRIAL DISEASES OF MUSCLE
Authors: MORGANHUGHES JA
Citation: Ja. Morganhughes, MITOCHONDRIAL DISEASES OF MUSCLE, Current opinion in neurology, 7(5), 1994, pp. 457-462
MITOCHONDRIAL-DNA MUTATION UNDERLYING LEIGHS SYNDROME - CLINICAL, PATHOLOGICAL, BIOCHEMICAL, AND GENETIC-STUDIES OF A PATIENT PRESENTING WITH PROGRESSIVE MYOCLONIC EPILEPSY
Authors: SWEENEY MG HAMMANS SR DUCHEN LW COOPER JM SCHAPIRA AHV KENNEDY CR JACOBS JM YOUL BD MORGANHUGHES JA HARDING AE
Citation: Mg. Sweeney et al., MITOCHONDRIAL-DNA MUTATION UNDERLYING LEIGHS SYNDROME - CLINICAL, PATHOLOGICAL, BIOCHEMICAL, AND GENETIC-STUDIES OF A PATIENT PRESENTING WITH PROGRESSIVE MYOCLONIC EPILEPSY, Journal of the neurological sciences, 121(1), 1994, pp. 57-65
A TANDEM DUPLICATION IN THE D-LOOP OF HUMAN MITOCHONDRIAL-DNA IS ASSOCIATED WITH DELETIONS IN MITOCHONDRIAL MYOPATHIES
Authors: BROCKINGTON M SWEENEY MG HAMMANS SR MORGANHUGHES JA HARDING AE
Citation: M. Brockington et al., A TANDEM DUPLICATION IN THE D-LOOP OF HUMAN MITOCHONDRIAL-DNA IS ASSOCIATED WITH DELETIONS IN MITOCHONDRIAL MYOPATHIES, Nature genetics, 4(1), 1993, pp. 67-71
MITOCHONDRIAL-DNA TRANSFER-RNA MUTATION LEU(UUR)A-]G-3260 - A 2ND FAMILY WITH MYOPATHY AND CARDIOMYOPATHY
Authors: SWEENEY MG BROCKINGTON M WESTON MJ MORGANHUGHES JA HARDING AE
Citation: Mg. Sweeney et al., MITOCHONDRIAL-DNA TRANSFER-RNA MUTATION LEU(UUR)A-]G-3260 - A 2ND FAMILY WITH MYOPATHY AND CARDIOMYOPATHY, Quarterly Journal of Medicine, 86(7), 1993, pp. 435-438
MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL PROTEIN IMPORT
Authors: BODNAR AG COOPER JM MORGANHUGHES JA SCHAPIRA AHV
Citation: Ag. Bodnar et al., MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL PROTEIN IMPORT, Neurology, 43(4), 1993, pp. 372-372
THE MITOCHONDRIAL-DNA TRANSFER RNA(LYS) A-]G(8344) MUTATION AND THE SYNDROME OF MYOCLONIC EPILEPSY WITH RAGGED-RED FIBERS (MERRF) - RELATIONSHIP OF CLINICAL PHENOTYPE TO PROPORTION OF MUTANT MITOCHONDRIAL-DNA
Authors: HAMMANS SR SWEENEY MG BROCKINGTON M LENNOX GG LAWTON NF KENNEDY CR MORGANHUGHES JA HARDING AE
Citation: Sr. Hammans et al., THE MITOCHONDRIAL-DNA TRANSFER RNA(LYS) A-]G(8344) MUTATION AND THE SYNDROME OF MYOCLONIC EPILEPSY WITH RAGGED-RED FIBERS (MERRF) - RELATIONSHIP OF CLINICAL PHENOTYPE TO PROPORTION OF MUTANT MITOCHONDRIAL-DNA, Brain, 116, 1993, pp. 617-632
Risultati: 1-25 |