Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where authors phrase all words ' Rubinsztein, DC' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 103 riferimenti
Si mostrano 100 riferimenti a partire da 1
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Wyttenbach, A; Swartz, J; Kita, H; Thykjaer, T; Carmichael, J; Bradley, J; Brown, R; Maxwell, M; Schapira, A; Orntoft, TF; Kato, K; Rubinsztein, DC
      Polyglutamine expansions cause decreased CRE-mediated transcription and early gene expression changes prior to cell death in an inducible cell model of Huntington's disease

      HUMAN MOLECULAR GENETICS
    2. Murphy, T; Yip, A; Brayne, C; Easton, D; Evans, JG; Xuereb, J; Cairns, N; Esiri, MM; Rubinsztein, DC
      The BACE gene: genomic structure and candidate gene study in late-onset Alzheimer's disease

      NEUROREPORT
    3. Berrios, GE; Wagle, AC; Markova, IS; Wagle, SA; Ho, LW; Rubinsztein, DC; Whittaker, J; Ffrench-Constant, C; Kershaw, A; Rosser, A; Bak, T; Hodges, JR
      Psychiatric symptoms and CAG repeats in neurologically asymptomatic Huntington's disease gene carriers

      PSYCHIATRY RESEARCH
    4. Taylor, A; Ezquerra, M; Bagri, G; Yip, A; Goumidi, L; Cottel, D; Easton, D; Evans, JG; Xuereb, J; Cairns, NJ; Amouyel, P; Chartier-Harlin, MC; Brayne, C; Rubinsztein, DC
      Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Ho, LW; Carmichael, J; Swartz, J; Wyttenbach, A; Rankin, J; Rubinsztein, DC
      The molecular biology of Huntington's disease

      PSYCHOLOGICAL MEDICINE
    6. Ho, LW; Brown, R; Maxwell, M; Wyttenbach, A; Rubinsztein, DC
      Wild type huntingtin reduces the cellular toxicity of mutant huntingtin inmammalian cell models of Huntington's disease

      JOURNAL OF MEDICAL GENETICS
    7. Taylor, AE; Yip, A; Brayne, C; Easton, D; Evans, JG; Xuereb, J; Cairns, N; Esiri, MM; Rubinsztein, DC
      Genetic association of an LBP-1c/CP2/LSF gene polymorphism with late onsetAlzheimer's disease

      JOURNAL OF MEDICAL GENETICS
    8. McConnell, RS; Rubinsztein, DC; Fannin, TF; McKinstry, CS; Kelly, B; Bailey, IC; Hughes, AE
      Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2loci presenting as familial cerebral aneurysm

      JOURNAL OF MEDICAL GENETICS
    9. Reid, E; Escayg, A; Dearlove, AM; Lee, DD; Meisler, MH; Rubinsztein, DC
      The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate

      JOURNAL OF MEDICAL GENETICS
    10. Rosser; Efgrafov, O; Syrrou, M; Meitinger, TA; Rubinsztein, DC; Stefanescu, G; Tolun, A
      Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language (vol 67, pg 1526, 2000)

      AMERICAN JOURNAL OF HUMAN GENETICS
    11. Rubinsztein, DC; Easton, EF
      Apolipoprotein E genetic variation and Alzheimer's Disease - A meta-analysis

      DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
    12. Coles, R; Birdsall, M; Wyttenbach, A; Rubinsztein, DC
      12-O-tetradecanoyl-phorbol-13-acetate down-regulates the Huntingtin promoter at Sp I sites

      NEUROREPORT
    13. Rankin, J; Wyttenbach, A; Rubinsztein, DC
      Intracellular green fluorescent protein-polyalanine aggregates are associated with cell death

      BIOCHEMICAL JOURNAL
    14. Furlong, RA; Narain, Y; Rankin, J; Wyttenbach, A; Rubinsztein, DC
      alpha-synuclein overexpression promotes aggregation of mutant huntingtin

      BIOCHEMICAL JOURNAL
    15. Furlong, RA; Keramatipour, M; Ho, LW; Rubinsztein, JS; Michael, A; Walsh, C; Paykel, ES; Rubinsztein, DC
      No association of an insertion/deletion polymorphism in the angiotensin I converting enzyme gene with bipolar or unipolar affective disorders

      AMERICAN JOURNAL OF MEDICAL GENETICS
    16. Ho, LW; Furlong, RA; Rubinsztein, JS; Walsh, C; Paykel, ES; Rubinsztein, DC
      Genetic associations with clinical characteristics in bipolar affective disorder and recurrent unipolar depressive disorder

      AMERICAN JOURNAL OF MEDICAL GENETICS
    17. Wyttenbach, A; Carmichael, J; Swartz, J; Furlong, RA; Narain, Y; Rankin, J; Rubinsztein, DC
      Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    18. Carmichael, J; Chatellier, J; Woolfson, A; Milstein, C; Fersht, AR; Rubinsztein, DC
      Bacterial and yeast chaperones reduce both aggregate formation and cell death in mammalian cell models of Huntington's disease

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    19. Narain, Y; Yip, A; Murphy, T; Brayne, C; Easton, D; Evans, JG; Xuereb, J; Cairns, N; Esiri, MM; Furlong, RA; Rubinsztein, DC
      The ACE gene and Alzheimer's disease susceptibility

      JOURNAL OF MEDICAL GENETICS
    20. Keramatipour, M; McConnell, RS; Kirkpatrick, P; Tebbs, S; Furlong, RA; Rubinsztein, DC
      The ACE I allele is associated with increased risk for ruptured intracranial aneurysms

      JOURNAL OF MEDICAL GENETICS
    21. Lindsey, JC; Lusher, ME; McDermott, CJ; White, KD; Reid, E; Rubinsztein, DC; Bashir, R; Hazan, J; Shaw, PJ; Bushby, KMD
      Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

      JOURNAL OF MEDICAL GENETICS
    22. Singleton, AB; Hall, R; Ballard, CG; Perry, RH; Xuereb, JH; Rubinsztein, DC; Tysoe, C; Matthews, P; Cordell, B; Kumar-Singh, S; De Jonghe, C; Cruts, M; van Broeckhoven, C; Morris, CM
      Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation

      BRAIN
    23. Rosser, ZH; Zerjal, T; Hurles, ME; Adojaan, M; Alavantic, D; Amorim, A; Amos, W; Armenteros, M; Arroyo, E; Barbujani, G; Beckman, G; Beckman, L; Bertranpetit, J; Bosch, E; Bradley, DG; Brede, G; Cooper, G; Corte-Real, HBSM; de Knijff, P; Decorte, R; Dubrova, YE; Evgrafov, O; Gilissen, A; Glisic, S; Golge, M; Hill, EW; Jeziorowska, A; Kalaydjieva, L; Kayser, M; Kivisild, T; Kravchenko, SA; Krumina, A; Kucinskas, V; Lavinha, J; Livshits, LA; Malaspina, P; Maria, S; McElreavey, K; Meitinger, TA; Mikelsaar, AV; Mitchell, RJ; Nafa, K; Nicholson, J; Norby, S; Pandya, A; Parik, J; Patsalis, PC; Pereira, L; Peterlin, B; Pielberg, G; Prata, ML; Previdere, C; Roewer, L; Rootsi, S; Rubinsztein, DC; Saillard, J; Santos, FR; Stefanescu, G; Sykes, BC; Tolun, A; Villems, R; Tyler-Smith, C; Jobling, MA
      Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language

      AMERICAN JOURNAL OF HUMAN GENETICS
    24. Reid, E; Dearlove, AM; Osborn, O; Rogers, MT; Rubinsztein, DC
      A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13

      AMERICAN JOURNAL OF HUMAN GENETICS
    25. Rubinsztein, DC; Easton, DF
      Apolipoprotein E genetic variation and Alzheimer's disease - A meta-analysis

      DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
    26. Dow, DJ; Lindsey, N; Cairns, NJ; Brayne, C; Robinson, D; Huppert, FA; Paykel, ES; Xuereb, J; Wilcock, G; Whittaker, JL; Rubinsztein, DC
      alpha-2 macroglobulin polymorphism and Alzheimer disease risk in the UK

      NATURE GENETICS
    27. De Jonghe, C; Cruts, M; Rogaeva, EA; Tysoe, C; Singleton, A; Vanderstichele, H; Meschino, W; Dermaut, D; Vanderhoeven, I; Backhovens, H; Vanmechelen, E; Morris, CM; Hardy, J; Rubinsztein, DC; St George-Hyslop, PH; Van Broeckhoven, C
      Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased A beta 42 secretion

      HUMAN MOLECULAR GENETICS
    28. Rubinsztein, DC; Amos, B; Cooper, G
      Microsatellite and trinucleotide-repeat evolution: evidence for mutationalbias and different rates of evolution in different lineages

      PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES
    29. Furlong, RA; Ho, LW; Rubinsztein, JS; Michael, A; Walsh, C; Paykel, ES; Rubinsztein, DC
      A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases

      NEUROSCIENCE LETTERS
    30. Rubinsztein, DC; Hon, J; Sevens, F; Pyrah, I; Tysoe, C; Huppert, FA; Easton, DF; Holland, AJ
      Apo E genotypes and risk of dementia in Down syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    31. Furlong, RA; Ho, L; Rubinsztein, JS; Walsh, C; Paykel, ES; Rubinsztein, DC
      Analysis of the monoamine oxidase A (MAOA) gene in bipolar affective disorder by association studies, meta-analyses, and sequencing of the promotor

      AMERICAN JOURNAL OF MEDICAL GENETICS
    32. Furlong, RA; Rubinsztein, JS; Ho, L; Walsh, C; Coleman, TA; Muir, WJ; Paykel, ES; Blackwood, DHR; Rubinsztein, DC
      Analysis and metaanalysis of two polymorphisms within the tyrosine hydroxylase gene in bipolar and unipolar affective disorders

      AMERICAN JOURNAL OF MEDICAL GENETICS
    33. Reid, E; Dearlove, AM; Whiteford, ML; Rhodes, M; Rubinsztein, DC
      Autosomal dominant spastic paraplegia - Refined SPG8 locus and additional genetic heterogeneity

      NEUROLOGY
    34. Cooper, G; Burroughs, NJ; Rand, DA; Rubinsztein, DC; Amos, W
      Markov Chain Monte Carlo analysis of human Y-chromosome microsatellites provides evidence of biased mutation

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    35. Rubinsztein, DC; Wyttenbach, A; Rankin, J
      Intracellular inclusions, pathological markers in diseases caused by expanded polyglutamine tracts?

      JOURNAL OF MEDICAL GENETICS
    36. Narain, Y; Wyttenbach, A; Rankin, J; Furlong, RA; Rubinsztein, DC
      A molecular investigation of true dominance in Huntington's disease

      JOURNAL OF MEDICAL GENETICS
    37. Reid, E; Grayson, C; Rubinsztein, DC; Rogers, MT; Rubinsztein, JS
      Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia

      JOURNAL OF MEDICAL GENETICS
    38. Reid, E; Grayson, C; Rogers, MT; Rubinsztein, DC
      Locus-phenotype correlations in autosomal dominant pure hereditary spasticparaplegia - A clinical and molecular genetic study of 28 United Kingdom families

      BRAIN
    39. Cooper, G; Amos, W; Bellamy, R; Siddiqui, MR; Frodsham, A; Hill, AVS; Rubinsztein, DC
      An Empirical exploration of the (delta mu)(2) genetic distance for 213 human microsatellite markers

      AMERICAN JOURNAL OF HUMAN GENETICS
    40. Reid, E; Dearlove, AM; Rhodes, M; Rubinsztein, DC
      A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

      AMERICAN JOURNAL OF HUMAN GENETICS
    41. Kirk, R; Furlong, RA; Amos, W; Cooper, G; Rubinsztein, JS; Walsh, C; Paykel, ES; Rubinsztein, DC
      Mitochondrial genetic analyses suggest selection against maternal lineagesin bipolar affective disorder

      AMERICAN JOURNAL OF HUMAN GENETICS
    42. De Jonghe, C; Tysoe, C; Cruts, M; Vanderhoeven, I; Vanderstichele, H; Vanmechelen, E; Van Broeckhoven, C; Rubinsztein, DC; Hendriks, L
      A presenilin-1 truncating mutation causing Alzheimer's disease

      ALZHEIMER'S DISEASE AND RELATED DISORDERS
    43. COOPER G; RUBINSZTEIN DC; AMOS W
      ASCERTAINMENT BIAS CANNOT ENTIRELY ACCOUNT FOR HUMAN MICROSATELLITES BEING LONGER THAN THEIR CHIMPANZEE HOMOLOGS

      Human molecular genetics (Print)
    44. COLES R; CASWELL R; RUBINSZTEIN DC
      FUNCTIONAL-ANALYSIS OF THE HUNTINGTONS-DISEASE (HD) GENE PROMOTER

      Human molecular genetics
    45. DEJONGHE C; TYSOE C; VANDERHOEVEN I; CRUTS M; VANBROECKHOVEN C; RUBINSZTEIN DC; HENDRIKS L
      N-TRUNCATION OF PRESENILIN-1, DUE TO AN OUT-FRAME DELETION

      European journal of neuroscience
    46. FURLONG RA; COLEMAN TA; HO L; RUBINSZTEIN JS; WALSH C; PAYKEL ES; RUBINSZTEIN DC
      NO ASSOCIATION OF A FUNCTIONAL POLYMORPHISM IN THE DOPAMINE D2 RECEPTOR PROMOTER REGION WITH BIPOLAR OR UNIPOLAR AFFECTIVE-DISORDERS

      American journal of medical genetics
    47. FURLONG RA; HO L; RUBINSZTEIN JS; WALSH C; PAYKEL ES; RUBINSZTEIN DC
      NO ASSOCIATION OF THE TRYPTOPHAN-HYDROXYLASE GENE WITH BIPOLAR AFFECTIVE-DISORDER, UNIPOLAR AFFECTIVE-DISORDER, OR SUICIDAL-BEHAVIOR IN MAJOR AFFECTIVE-DISORDER

      American journal of medical genetics
    48. FURLONG RA; HO L; WALSH C; RUBINSZTEIN JS; JAIN S; PAYKEL ES; EASTON DF; RUBINSZTEIN DC
      ANALYSIS AND METAANALYSIS OF 2 SEROTONIN TRANSPORTER GENE POLYMORPHISMS IN BIPOLAR AND UNIPOLAR AFFECTIVE-DISORDERS

      American journal of medical genetics
    49. ROSENBLATT A; RANEN NG; RUBINSZTEIN DC; STINE OC; MARGOLIS RL; WAGSTER MV; BECHER MW; ROSSER AE; LEGGO J; HODGES JR; FFRENCHCONSTANT CK; SHERR M; FRANZ ML; ABBOTT MH; ROSS CA
      PATIENTS WITH FEATURES SIMILAR TO HUNTINGTONS-DISEASE, WITHOUT CAG EXPANSION IN HUNTINGTIN

      Neurology
    50. RUBINSZTEIN JS; RUBINSZTEIN DC; GOODBURN S; HOLLAND AJ
      APATHY AND HYPERSOMNIA ARE COMMON FEATURES OF MYOTONIC-DYSTROPHY

      Journal of Neurology, Neurosurgery and Psychiatry
    51. PEETERS AV; KOTZE MJ; SCHOLTZ CL; DEWAAL LF; RUBINSZTEIN DC; COETZEE GA; ZULIANI G; STREIFF R; LIU JW; VANDERWESTHUYZEN DR
      A 3-BASEPAIR DELETION IN REPEAT-1 OF THE LDL RECEPTOR PROMOTER REDUCES TRANSCRIPTIONAL ACTIVITY IN A SOUTH-AFRICAN PEDI

      Journal of lipid research
    52. LAWRENCE AD; HODGES JR; ROSSER AE; KERSHAW A; FFRENCHCONSTANT C; RUBINSZTEIN DC; ROBBINS TW; SAHAKIAN BJ
      EVIDENCE FOR SPECIFIC COGNITIVE DEFICITS IN PRECLINICAL HUNTINGTONS-DISEASE

      Brain (Print)
    53. TYSOE C; WHITTAKER J; XUEREB J; CAIRNS NJ; CRUTS M; VANBROECKHOVEN C; WILCOCK G; RUBINSZTEIN DC
      A PRESENILIN-1 TRUNCATING MUTATION IS PRESENT IN 2 CASES WITH AUTOPSY-CONFIRMED EARLY-ONSET ALZHEIMER-DISEASE

      American journal of human genetics
    54. TYSOE C; GALINSKY D; ROBINSON D; BRAYNE C; HUPPERT FA; DENING T; PAYKEL ES; EASTON DF; RUBINSZTEIN DC
      APO-E AND APO CI LOCI ARE ASSOCIATED WITH DEMENTIA IN YOUNGER BUT NOTOLDER LATE-ONSET CASES

      Dementia and geriatric cognitive disorders
    55. RUBINSZTEIN DC
      A REVIEW OF THE CONTRIBUTION OF APO-E GENOTYPES TO ALZHEIMERS-DISEASERISK AND METAANALYSIS OF APO-E ASSOCIATIONS WITH OTHER NEUROPSYCHIATRIC DISORDERS

      NMCD. Nutrition Metabolism and Cardiovascular Diseases
    56. BECHER MW; RUBINSZTEIN DC; LEGGO J; WAGSTER MV; STINE OC; RANEN NG; FRANZ ML; ABBOTT MH; SHERR M; MACMILLAN JC; BARRON L; PORTEOUS M; HARPER PS; ROSS CA
      DENTATORUBRAL AND PALLIDOLUYSIAN ATROPHY (DRPLA) - CLINICAL AND NEUROPATHOLOGICAL FINDINGS IN GENETICALLY CONFIRMED NORTH-AMERICAN AND EUROPEAN PEDIGREES

      Movement disorders
    57. WISE CA; SRAML M; RUBINSZTEIN DC; EASTEAL S
      COMPARATIVE NUCLEAR AND MITOCHONDRIAL GENOME DIVERSITY IN HUMANS AND CHIMPANZEES

      Molecular biology and evolution
    58. TYSOE C; WHITTAKER J; CAIRNS NJ; ATKINSON PF; HARRINGTON CR; XUEREB J; WILCOCK G; RUBINSZTEIN DC
      PRESENILIN-1 INTRON-8 POLYMORPHISM IS NOT ASSOCIATED WITH AUTOPSY-CONFIRMED LATE-ONSET ALZHEIMERS-DISEASE

      Neuroscience letters
    59. RUBINSZTEIN DC
      THE GENETICS OF ALZHEIMERS-DISEASE

      Progress in neurobiology
    60. JAIN S; LEGGO J; DELISI LE; CROW TJ; MARGOLIS RL; LI SH; GOODBURN S; WALSH C; PAYKEL ES; FERGUSONSMITH MA; ROSS CA; RUBINSZTEIN DC
      ANALYSIS OF 13 TRINUCLEOTIDE REPEAT LOCI AS CANDIDATE GENES FOR SCHIZOPHRENIA AND BIPOLAR-DISORDER

      American journal of medical genetics
    61. TYSOE C; GALINSKY D; ROBINSON D; BRAYNE CE; EASTON DF; HUPPERT FA; DENING T; PAYKEL ES; RUBINSZTEIN DC
      ANALYSIS OF ALPHA-1 ANTICHYMOTRYPSIN, PRESENILIN-1, ANGIOTENSIN-CONVERTING ENZYME, AND METHYLENETETRAHYDROFOLATE REDUCTASE LOCI AS CANDIDATES FOR DEMENTIA

      American journal of medical genetics
    62. RUBINSZTEIN DC; LEGGO J; CHIANO M; KORN S; DODGE A; NORBURY G; ROSSER E; CRAUFURD D
      HOMOZYGOTES AND HETEROZYGOTES FOR CILIARY NEUROTROPHIC FACTOR NULL ALLELES DO NOT SHOW EARLIER ONSET OF HUNTINGTONS-DISEASE

      Neurology
    63. RUBINSZTEIN DC; LEGGO J; CHIANO M; DODGE A; NORBURY G; ROSSER E; CRAUFURD D
      GENOTYPES AT THE GLUR6 KAINATE RECEPTOR LOCUS ARE ASSOCIATED WITH VARIATION IN THE AGE-OF-ONSET OF HUNTINGTON-DISEASE

      Proceedings of the National Academy of Sciences of the United Statesof America
    64. COLES R; LEGGO J; RUBINSZTEIN DC
      ANALYSIS OF THE 5'-UPSTREAM SEQUENCE OF THE HUNTINGTONS-DISEASE (HD) GENE SHOWS 6 NEW RARE ALLELES WHICH ARE UNRELATED TO THE AGE AT ONSET OF HD

      Journal of Medical Genetics
    65. RUBINSZTEIN JS; RUBINSZTEIN DC; MCKENNA PJ; GOODBURN S; HOLLAND AJ
      MILD MYOTONIC-DYSTROPHY IS ASSOCIATED WITH MEMORY IMPAIRMENT IN THE CONTEXT OF NORMAL GENERAL INTELLIGENCE

      Journal of Medical Genetics
    66. RUBINSZTEIN DC; LEGGO J
      NON-MENDELIAN TRANSMISSION AT THE MACHADO-JOSEPH-DISEASE LOCUS IN NORMAL FEMALES - PREFERENTIAL TRANSMISSION OF ALLELES WITH SMALLER CAG REPEATS

      Journal of Medical Genetics
    67. LEGGO J; DALTON A; MORRISON PJ; DODGE A; CONNARTY M; KOTZE MJ; RUBINSZTEIN DC
      ANALYSIS OF SPINOCEREBELLAR ATAXIA TYPE-1, TYPE-2, TYPE-3, AND TYPE-6, DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY, AND FRIEDREICHS ATAXIA GENES IN SPINOCEREBELLAR ATAXIA PATIENTS IN THE UK

      Journal of Medical Genetics
    68. DOW DJ; RUBINSZTEIN DC; YATES JRW; BARTON DE; FERGUSONSMITH MA
      INSTABILITY OF NORMAL (CTG)(N) ALLELES IN THE DM KINASE GENE

      Journal of Medical Genetics
    69. GALINSKY D; TYSOE C; BRAYNE CE; EASTON DF; HUPPERT FA; DENING TR; PAYKEL ES; RUBINSZTEIN DC
      ANALYSIS OF THE APO-E APO-C-I, ANGIOTENSIN-CONVERTING ENZYME AND METHYLENETETRAHYDROFOLATE REDUCTASE GENES AS CANDIDATES AFFECTING HUMAN LONGEVITY

      Atherosclerosis
    70. RAAL FJ; PILCHER G; RUBINSZTEIN DC; LINGENHEL A; UTERMANN G
      STATIN THERAPY IN A KINDRED WITH BOTH APOLIPOPROTEIN-B AND LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE DEFECTS

      Atherosclerosis
    71. RUBINSZTEIN DC; LEGGO J; CHIANO M; KORN S; COLES R; DODGE A; NORBURY G; ROSSER E; CRAUFURD D
      GENOTYPES AT THE GLUR6 KAINATE RECEPTOR LOCUS ARE ASSOCIATED WITH VARIATION IN THE AGE-OF-ONSET OF HUNTINGTONS-DISEASE

      American journal of human genetics
    72. AMOS W; SAWCER SJ; FEAKES RW; RUBINSZTEIN DC
      MICROSATELLITES SHOW MUTATIONAL BIAS AND HETEROZYGOTE INSTABILITY

      Nature genetics
    73. AMOS W; RUBINSZTEIN DC
      MICROSATELLITES ARE SUBJECT TO DIRECTIONAL EVOLUTION

      Nature genetics
    74. MARGOLIS RL; STINE OC; MCINNIS MG; RANEN NG; RUBINSZTEIN DC; LEGGO J; BRANDO LVJ; KIDWAI AS; LOEV SJ; BRESCHEL TS; CALLAHAN C; SIMPSON SG; DEPAULO JR; MCMAHON FJ; JAIN S; PAYKEL ES; WALSH C; DELISI LE; CROW TJ; TORREY EF; ASHWORTH RG; MACKE JP; NATHANS J; ROSS CA
      CDNA CLONING OF A HUMAN HOMOLOG OF THE CAENORHABDITIS-ELEGANS CELL FATE-DETERMINING GENE MAB-21 - EXPRESSION, CHROMOSOMAL LOCALIZATION AND ANALYSIS OF A HIGHLY POLYMORPHIC (CAG)(N) TRINUCLEOTIDE REPEAT

      Human molecular genetics
    75. COOPER G; AMOS W; HOFFMAN D; RUBINSZTEIN DC
      NETWORK ANALYSIS OF HUMAN Y-MICROSATELLITE HAPLOTYPES

      Human molecular genetics
    76. RUBINSZTEIN DC; LEGGO J; CROW TJ; DELISI LE; WALSH C; JAIN S; PAYKEL ES
      ANALYSIS OF POLYGLUTAMINE-CODING REPEATS IN THE TATA-BINDING PROTEIN IN DIFFERENT HUMAN-POPULATIONS AND IN PATIENTS WITH SCHIZOPHRENIA AND BIPOLAR AFFECTIVE-DISORDER

      American journal of medical genetics
    77. JAIN S; LEGGO J; DELISI LE; CROW TJ; MARGOLIS RL; LI SH; GOODBURN S; WALSH C; PAYKEL ES; FERGUSONSMITH MA; ROSS CA; RUBINSZTEIN DC
      ANALYSIS OF 13 TRINUCLEOTIDE REPEAT LOCI AS CANDIDATE GENES FOR SCHIZOPHRENIA AND BIPOLAR AFFECTIVE-DISORDER

      American journal of medical genetics
    78. TYSOE C; ROBINSON D; BRAYNE C; DENING T; PAYKEL ES; HUPPERT FA; RUBINSZTEIN DC
      THE TRNA(GLN)-4336 MITOCHONDRIAL-DNA VARIANT IS NOT A HIGH PENETRANCEMUTATION WHICH PREDISPOSES TO DEMENTIA BEFORE THE AGE OF 75 YEARS

      Journal of Medical Genetics
    79. LANGENHOVEN E; WARNICH L; THIART R; RUBINSZTEIN DC; VANDERWESTHUYZEN DR; MARAIS AD; KOTZE MJ
      2 NOVEL POINT MUTATIONS CAUSING RECEPTOR-NEGATIVE FAMILIAL HYPERCHOLESTEROLEMIA IN A SOUTH-AFRICAN INDIAN HOMOZYGOTE

      Atherosclerosis
    80. RUBINSZTEIN DC; LEGGO J; COLES R; ALMQVIST E; BIANCALANA V; CASSIMAN JJ; CHOTAI K; CONNARTY M; CRAUFURD D; CURTIS A; CURTIS D; DAVIDSON MJ; DIFFER AM; DODE C; DODGE A; FRONTALI M; RANEN NG; STINE OC; SHERR M; ABBOTT MH; FRANZ ML; GRAHAM CA; HARPER PS; HEDREEN JC; JACKSON A; KAPLAN JC; LOSEKOOT M; MACMILLAN JC; MORRISON P; TROTTIER Y; NOVELLETTO A; SIMPSON SA; THEILMANN J; WHITTAKER JL; FOLSTEIN SE; ROSS CA; HAYDEN MR
      PHENOTYPIC CHARACTERIZATION OF INDIVIDUALS WITH 30-40 CAG REPEATS IN THE HUNTINGTON DISEASE (HD) GENE REVEALS HD CASES WITH 36 REPEATS AND APPARENTLY NORMAL ELDERLY INDIVIDUALS WITH 36-39 REPEATS

      American journal of human genetics
    81. RUBINSZTEIN DC; AMOS W; LEGGO J; GOODBURN S; JAIN S; LI SH; MARGOLIS RL; ROSS CA; FERGUSONSMITH MA
      MICROSATELLITE EVOLUTION - EVIDENCE FOR DIRECTIONALITY AND VARIATION IN RATE BETWEEN SPECIES

      Nature genetics
    82. RUBINSZTEIN DC; LEGGO J; COETZEE GA; IRVINE RA; BUCKLEY M; FERGUSONSMITH MA
      SEQUENCE VARIATION AND SIZE RANGES OF CAG REPEATS IN THE MACHADO-JOSEPH DISEASE, SPINOCEREBELLAR ATAXIA TYPE-1 AND ANDROGEN RECEPTOR GENES

      Human molecular genetics
    83. RUBINSZTEIN DC; LEGGO J; GOODBURN S; BARTON DE; FERGUSONSMITH MA
      HAPLOTYPE ANALYSIS OF THE DELTA-2642 AND (CAG)(N) POLYMORPHISMS IN THE HUNTINGTONS-DISEASE (HD) GENE PROVIDES AN EXPLANATION FOR AN APPARENT FOUNDER HD HAPLOTYPE

      Human molecular genetics
    84. RUBINSZTEIN DC; LEGGO J; AMOS W
      MICROSATELLITES EVOLVE MORE RAPIDLY IN HUMANS THAN IN CHIMPANZEES

      Genomics
    85. RUBINSZTEIN DC; COETZEE GA; VANDERWESTHUYZEN DR; LANGENHOVEN E; KOTZE MJ
      FAMILIAL DEFECTIVE APOLIPOPROTEIN-B IS RARE IN HYPERCHOLESTEROLEMIC SOUTH-AFRICAN AFRIKANERS, COLOUREDS AND INDIANS

      South African medical journal
    86. ANDREWS K; WIENBERG J; FERGUSONSMITH MA; RUBINSZTEIN DC
      ENRICHMENT OF FETAL NUCLEATED CELLS FROM MATERNAL BLOOD - MODEL TEST SYSTEM USING CORD-BLOOD

      Prenatal diagnosis
    87. RUBINSZTEIN DC; LEGGO J; GOODBURN S; BARTON DE; FERGUSONSMITH MA
      NORMAL CAG AND CCG REPEATS IN THE HUNTINGTONS-DISEASE GENES OF PARKINSONS-DISEASE PATIENTS

      American journal of medical genetics
    88. RUBINSZTEIN DC
      APOLIPOPROTEIN-E - A REVIEW OF ITS ROLES IN LIPOPROTEIN METABOLISM, NEURONAL GROWTH AND REPAIR AND AS A RISK FACTOR FOR ALZHEIMERS-DISEASE

      Psychological medicine
    89. RUBINSZTEIN DC; AMOS W; LEGGO J; GOODBURN S; RAMESAR RS; OLD J; BONTROP R; MCMAHON R; BARTON DE; FERGUSONSMITH MA
      MUTATIONAL BIAS PROVIDES A MODEL FOR THE EVOLUTION OF HUNTINGTONS-DISEASE AND PREDICTS A GENERAL INCREASE IN DISEASE PREVALENCE

      Journal of Medical Genetics
    90. DOW DJ; RUBINSZTEIN DC; FERGUSONSMITH MA; YATES JRW; BARTON DE
      INSTABILITY OF A NORMAL (CTG), ALLELE IN THE DM-KINASE GENE

      Journal of Medical Genetics
    91. HANLON CS; RUBINSZTEIN DC
      ARGININE RESIDUES AT CODON-112 AND CODON-158 IN THE APOLIPOPROTEIN-E GENE CORRESPOND TO THE ANCESTRAL STATE IN HUMANS

      Atherosclerosis
    92. RUBINSZTEIN DC; AMOS W; LEGGO J; GOODBURN S; JAIN S; LI SH; MARGOLIS RL; ROSE CA; FERGUSONSMITH MA
      MICROSATELLITES ARE GENERALLY LONGER IN HUMANS COMPARED TO THEIR HOMOLOGS IN NONHUMAN-PRIMATES - EVIDENCE FOR DIRECTIONAL EVOLUTION AT MICROSATELLITE LOCI

      American journal of human genetics
    93. RUBINSZTEIN DC; BARTON DE; FERGUSONSMITH MA
      ISSUES IN HUNTINGTONS-DISEASE TESTING

      Quarterly Journal of Medicine
    94. RUBINSZTEIN DC; AMOS W; LEGGO J; GOODBURN S; RAMESAR RS; OLD J; BONTROP R; MCMAHON R; BARTON DE; FERGUSONSMITH MA
      MUTATIONAL BIAS PROVIDES A MODEL FOR THE EVOLUTION OF HUNTINGTONS-DISEASE AND PREDICTS A GENERAL INCREASE IN DISEASE PREVALENCE

      Nature genetics
    95. RUBINSZTEIN DC; LEGGO J; AMOS W; BARTON DE; FERGUSONSMITH MA
      MYOTONIC-DYSTROPHY CTG REPEATS AND THE ASSOCIATED INSERTION DELETION POLYMORPHISM IN HUMAN AND PRIMATE POPULATIONS/

      Human molecular genetics
    96. RUBINSZTEIN DC; HANLON CS; IRVING RM; GOODBURN S; EVANS DGR; KELLARWOOD H; XUEREB JH; BANDMANN O; HARDING AE
      APO-E GENOTYPES IN MULTIPLE-SCLEROSIS, PARKINSONS-DISEASE, SCHWANNOMAS AND LATE-ONSET ALZHEIMERS-DISEASE

      Molecular and cellular probes
    97. RUBINSZTEIN DC; VANDERWESTHUYZEN DR; COETZEE GA
      MONOGENIC PRIMARY HYPERCHOLESTEROLEMIA IN SOUTH-AFRICA

      South African medical journal
    98. RUBINSZTEIN DC; LEGGO J; GOODBURN S; CROW TJ; LOFTHOUSE R; DELISI LE; BARTON DE; FERGUSONSMITH MA
      STUDY OF THE HUNTINGTONS-DISEASE (HD) GENE CAG REPEATS IN SCHIZOPHRENIC-PATIENTS SHOWS OVERLAP OF THE NORMAL AND HD AFFECTED RANGES BUT ABSENCE OF CORRELATION WITH SCHIZOPHRENIA

      Journal of Medical Genetics
    99. RUBINSZTEIN DC; RAAL D; SEFTEL H; PILCHER G; COETZEE GA; VANDERWESTHUYZEN DR
      CHARACTERIZATION OF 6 PATIENTS WHO ARE DOUBLE HETEROZYGOTES FOR FAMILIAL HYPERCHOLESTEROLEMIA AND FAMILIAL DEFECTIVE APOLIPOPROTEIN B-100

      Journal of Medical Genetics
    100. RUBINSZTEIN DC; LEGGO J; GOODBURN S; BARTON DE; FERGUSONSMITH MA; ROSS CA; LI SH; LOFTHOUSE R; CROW TJ; DELISI LE
      B37 REPEATS ARE NORMAL IN MOST SCHIZOPHRENIC-PATIENTS

      British Journal of Psychiatry


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/08/20 alle ore 14:03:19