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Results: 1-25 | 26-26
Results: 1-25/26
GENERALIZED CHOREA IN 2 PATIENTS HARBORING THE FRIEDREICHS ATAXIA GENE TRINUCLEOTIDE REPEAT EXPANSION
Authors: HANNA MG DAVIS MB SWEENEY MG NOURSADEGHI M ELLIS CJ ELLIOT P WOOD NW MARSDEN CD
Citation: Mg. Hanna et al., GENERALIZED CHOREA IN 2 PATIENTS HARBORING THE FRIEDREICHS ATAXIA GENE TRINUCLEOTIDE REPEAT EXPANSION, Movement disorders, 13(2), 1998, pp. 339-340
DEJERINE-SOTTAS NEUROPATHY AND PMP22 POINT MUTATIONS - A NEW BASE-PAIR SUBSTITUTION AND A POSSIBLE HOT-SPOT ON SER72
Authors: MARQUES W THOMAS PK SWEENEY MG CARR L WOOD NW
Citation: W. Marques et al., DEJERINE-SOTTAS NEUROPATHY AND PMP22 POINT MUTATIONS - A NEW BASE-PAIR SUBSTITUTION AND A POSSIBLE HOT-SPOT ON SER72, Annals of neurology, 43(5), 1998, pp. 680-683
THE ROLE OF THE SCA2 TRINUCLEOTIDE REPEAT EXPANSION IN 89 AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA FAMILIES - FREQUENCY, CLINICAL AND GENETIC CORRELATES
Authors: GIUNTI P SABBADINI G SWEENEY MG DAVIS MB VENEZIANO L MANTUANO E FEDERICO A PLASMATI R FRONTALI M WOOD NW
Citation: P. Giunti et al., THE ROLE OF THE SCA2 TRINUCLEOTIDE REPEAT EXPANSION IN 89 AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA FAMILIES - FREQUENCY, CLINICAL AND GENETIC CORRELATES, Brain, 121, 1998, pp. 459-467
MITOCHONDRIAL-DNA POLYMORPHISMS IN PATHOLOGICALLY PROVEN PARKINSONS-DISEASE
Authors: BANDMANN O SWEENEY MG DANIEL SE MARSDEN CD WOOD NW
Citation: O. Bandmann et al., MITOCHONDRIAL-DNA POLYMORPHISMS IN PATHOLOGICALLY PROVEN PARKINSONS-DISEASE, Journal of neurology, 244(4), 1997, pp. 262-265
MULTIPLE-SYSTEM ATROPHY IS GENETICALLY DISTINCT FROM IDENTIFIED INHERITED CAUSES OF SPINOCEREBELLAR DEGENERATION
Authors: BANDMANN O SWEENEY MG DANIEL SE WENNING GK QUINN N MARSDEN CD WOOD NW
Citation: O. Bandmann et al., MULTIPLE-SYSTEM ATROPHY IS GENETICALLY DISTINCT FROM IDENTIFIED INHERITED CAUSES OF SPINOCEREBELLAR DEGENERATION, Neurology, 49(6), 1997, pp. 1598-1604
CHARACTERIZATION OF THE SCA2 CAG REPEAT EXPANSION IN ADCA TYPE-I FAMILIES
Authors: GIUNTI P SWEENEY MG DAVIS MB WOOD NW
Citation: P. Giunti et al., CHARACTERIZATION OF THE SCA2 CAG REPEAT EXPANSION IN ADCA TYPE-I FAMILIES, Journal of Medical Genetics, 34, 1997, pp. 548-548
THE PHENOTYPIC MANIFESTATIONS OF CHROMOSOME 17P11.2 DUPLICATION
Authors: THOMAS PK MARQUES W DAVIS MB SWEENEY MG KING RHM BRADLEY JL MUDDLE JR TYSON J MALCOLM S HARDING AE
Citation: Pk. Thomas et al., THE PHENOTYPIC MANIFESTATIONS OF CHROMOSOME 17P11.2 DUPLICATION, Brain, 120, 1997, pp. 465-478
EVIDENCE AGAINST AN X-LINKED VISUAL-LOSS SUSCEPTIBILITY LOCUS IN LEBER HEREDITARY OPTIC NEUROPATHY
Authors: CHALMERS RM DAVIS MB SWEENEY MG WOOD NW HARDING AE
Citation: Rm. Chalmers et al., EVIDENCE AGAINST AN X-LINKED VISUAL-LOSS SUSCEPTIBILITY LOCUS IN LEBER HEREDITARY OPTIC NEUROPATHY, American journal of human genetics, 59(1), 1996, pp. 103-108
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
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
BILATERAL SIMULTANEOUS OPTIC NEUROPATHY IN ADULTS - CLINICAL, IMAGING, SEROLOGICAL, AND GENETIC-STUDIES
Authors: MORRISSEY SP BORRUAT FX MILLER DH MOSELEY IF SWEENEY MG GOVAN GG KELLY MA FRANCIS DA HARDING AE MCDONALD WI
Citation: Sp. Morrissey et al., BILATERAL SIMULTANEOUS OPTIC NEUROPATHY IN ADULTS - CLINICAL, IMAGING, SEROLOGICAL, AND GENETIC-STUDIES, Journal of Neurology, Neurosurgery and Psychiatry, 58(1), 1995, pp. 70-74
DETECTION OF THE MACHADO-JOSEPH DISEASE SPINOCEREBELLAR ATAXIA 3 TRINUCLEOTIDE REPEAT EXPANSION IN FAMILIES WITH AUTOSOMAL-DOMINANT MOTOR DISORDERS, INCLUDING THE DREW FAMILY OF WALWORTH
Authors: GIUNTI P SWEENEY MG HARDING AE
Citation: P. Giunti et al., DETECTION OF THE MACHADO-JOSEPH DISEASE SPINOCEREBELLAR ATAXIA 3 TRINUCLEOTIDE REPEAT EXPANSION IN FAMILIES WITH AUTOSOMAL-DOMINANT MOTOR DISORDERS, INCLUDING THE DREW FAMILY OF WALWORTH, Brain, 118, 1995, pp. 1077-1085
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
THE CLINICAL-FEATURES OF LEBERS HEREDITARY OPTIC NEUROPATHY DEFINED BY THE PRESENCE OF A PATHOGENIC MITOCHONDRIAL-DNA MUTATION
Authors: RIORDANEVA P SANDERS MD GOVAN GG SWEENEY MG DACOSTA J HARDING AE
Citation: P. Riordaneva et al., THE CLINICAL-FEATURES OF LEBERS HEREDITARY OPTIC NEUROPATHY DEFINED BY THE PRESENCE OF A PATHOGENIC MITOCHONDRIAL-DNA MUTATION, Brain, 118, 1995, pp. 319-337
PEDIGREE ANALYSIS IN LEBER HEREDITARY OPTIC NEUROPATHY FAMILIES WITH A PATHOGENIC MTDNA MUTATION
Authors: HARDING AE SWEENEY MG GOVAN GG RIORDANEVA P
Citation: Ae. Harding et al., PEDIGREE ANALYSIS IN LEBER HEREDITARY OPTIC NEUROPATHY FAMILIES WITH A PATHOGENIC MTDNA MUTATION, American journal of human genetics, 57(1), 1995, pp. 77-86
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
TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS
Authors: HARDING AE GIUNTI P SWEENEY MG SPADARO M JODICE C NOVELLETTO A MALASPINA P FRONTALI M
Citation: Ae. Harding et al., TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS, Annals of neurology, 36(2), 1994, pp. 260-260
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
MITOCHONDRIAL GENE DEFECTS IN PATIENTS WITH NIDDM
Authors: ALCOLADO JC MAJID A BROCKINGTON M SWEENEY MG MORGAN R REES A HARDING AE BARNETT AH
Citation: Jc. Alcolado et al., MITOCHONDRIAL GENE DEFECTS IN PATIENTS WITH NIDDM, Diabetologia, 37(4), 1994, pp. 372-376
THE TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS
Authors: GIUNTI P SWEENEY MG SPADARO M JODICE C NOVELLETTO A MALASPINA P FRONTALI M HARDING AE
Citation: P. Giunti et al., THE TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS, Brain, 117, 1994, pp. 645-649
MITOCHONDRIAL-DNA-8993 (NARP) MUTATION PRESENTING WITH A HETEROGENEOUS PHENOTYPE INCLUDING CEREBRAL-PALSY
Authors: FRYER A APPLETON R SWEENEY MG ROSENBLOOM L HARDING AE
Citation: A. Fryer et al., MITOCHONDRIAL-DNA-8993 (NARP) MUTATION PRESENTING WITH A HETEROGENEOUS PHENOTYPE INCLUDING CEREBRAL-PALSY, Archives of Disease in Childhood, 71(5), 1994, pp. 419-422
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 ASSOCIATED WITH SUDDEN-DEATH IN YOUNG-ADULTS AND A NOVEL MUTATION IN THE MITOCHONDRIAL-DNA LEUCINE TRANSFER RNA(UUR)GENE
Authors: SWEENEY MG BUNDEY S BROCKINGTON M POULTON KR WINER JB HARDING AE
Citation: Mg. Sweeney et al., MITOCHONDRIAL MYOPATHY ASSOCIATED WITH SUDDEN-DEATH IN YOUNG-ADULTS AND A NOVEL MUTATION IN THE MITOCHONDRIAL-DNA LEUCINE TRANSFER RNA(UUR)GENE, Quarterly Journal of Medicine, 86(11), 1993, pp. 709-713
MITOCHONDRIAL GENE DEFECTS IN TYPE-2 DIABETES
Authors: ALCOLADO JC BROCKINGTON M SWEENEY MG HARDING AE BARNETT AH
Citation: Jc. Alcolado et al., MITOCHONDRIAL GENE DEFECTS IN TYPE-2 DIABETES, Diabetologia, 36, 1993, pp. 10000003-10000003
Risultati: 1-25 | 26-26