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Results: 1-10 |
Results: 10
ATAXIA WITH ISOLATED VITAMIN-E-DEFICIENCY PRESENTING AS MUTATION NEGATIVE FRIEDREICHS ATAXIA
Authors: HAMMANS SR KENNEDY CR
Citation: Sr. Hammans et Cr. Kennedy, ATAXIA WITH ISOLATED VITAMIN-E-DEFICIENCY PRESENTING AS MUTATION NEGATIVE FRIEDREICHS ATAXIA, Journal of Neurology, Neurosurgery and Psychiatry, 64(3), 1998, pp. 368-370
A MITOCHONDRIAL-DNA TRNA(VAL) POINT MUTATION ASSOCIATED WITH ADULT-ONSET LEIGH-SYNDROME
Authors: CHALMERS RM LAMONT PJ NELSON I ELLISON DW THOMAS NH HARDING AE HAMMANS SR
Citation: Rm. Chalmers et al., A MITOCHONDRIAL-DNA TRNA(VAL) POINT MUTATION ASSOCIATED WITH ADULT-ONSET LEIGH-SYNDROME, Neurology, 49(2), 1997, pp. 589-592
INFLUENCE OF OBTAINING A NEUROLOGICAL OPINION ON THE DIAGNOSIS AND MANAGEMENT OF HOSPITAL INPATIENTS
Authors: STEIGER MJ ENEVOLDSON TP HAMMANS SR GINSBERG L
Citation: Mj. Steiger et al., INFLUENCE OF OBTAINING A NEUROLOGICAL OPINION ON THE DIAGNOSIS AND MANAGEMENT OF HOSPITAL INPATIENTS, Journal of Neurology, Neurosurgery and Psychiatry, 61(6), 1996, pp. 653-654
THE INHERITED ATAXIAS AND THE NEW GENETICS
Authors: HAMMANS SR
Citation: Sr. Hammans, THE INHERITED ATAXIAS AND THE NEW GENETICS, Journal of Neurology, Neurosurgery and Psychiatry, 61(4), 1996, pp. 327-332
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
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
CORTICAL REFLEX MYOCLONUS IN PATIENTS WITH THE MITOCHONDRIAL-DNA TRANSFER RNA(LYS(8344) (MERRF) MUTATION
Authors: THOMPSON PD HAMMANS SR HARDING AE
Citation: Pd. Thompson et al., CORTICAL REFLEX MYOCLONUS IN PATIENTS WITH THE MITOCHONDRIAL-DNA TRANSFER RNA(LYS(8344) (MERRF) MUTATION, Journal of neurology, 241(5), 1994, pp. 335-340
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
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
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