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Results: 1-24 |
Results: 24
PAK3 MUTATION IN NONSYNDROMIC X-LINKED MENTAL-RETARDATION
Authors: ALLEN KM GLEESON JG BAGRODIA S PARTINGTON MW MACMILLAN JC CERIONE RA MULLEY JC WALSH CA
Citation: Km. Allen et al., PAK3 MUTATION IN NONSYNDROMIC X-LINKED MENTAL-RETARDATION, Nature genetics, 20(1), 1998, pp. 25-30
ARTERIOHEPATIC DYSPLASIA (ALAGILLE-SYNDROME, WATSON-ALAGILLE-SYNDROME)
Authors: MACMILLAN JC SHEPHERD R HERITAGE M
Citation: Jc. Macmillan et al., ARTERIOHEPATIC DYSPLASIA (ALAGILLE-SYNDROME, WATSON-ALAGILLE-SYNDROME), Bailliere's clinical gastroenterology, 12(2), 1998, pp. 275-291
HUNTINGTIN PROTEIN COLOCALIZES WITH LESIONS OF NEURODEGENERATIVE DISEASES - AN INVESTIGATION IN HUNTINGTONS, ALZHEIMERS, AND PICKS DISEASES
Authors: SINGHRAO SK THOMAS P WOOD JD MACMILLAN JC NEAL JW HARPER PS JONES AL
Citation: Sk. Singhrao et al., HUNTINGTIN PROTEIN COLOCALIZES WITH LESIONS OF NEURODEGENERATIVE DISEASES - AN INVESTIGATION IN HUNTINGTONS, ALZHEIMERS, AND PICKS DISEASES, Experimental neurology, 150(2), 1998, pp. 213-222
DENTATORUBRAL AND PALLIDOLUYSIAN ATROPHY (DRPLA) - CLINICAL AND NEUROPATHOLOGICAL FINDINGS IN GENETICALLY CONFIRMED NORTH-AMERICAN AND EUROPEAN PEDIGREES
Authors: 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
Citation: Mw. Becher et al., DENTATORUBRAL AND PALLIDOLUYSIAN ATROPHY (DRPLA) - CLINICAL AND NEUROPATHOLOGICAL FINDINGS IN GENETICALLY CONFIRMED NORTH-AMERICAN AND EUROPEAN PEDIGREES, Movement disorders, 12(4), 1997, pp. 519-530
PARTIAL CHARACTERIZATION OF MURINE HUNTINGTIN AND APPARENT VARIATIONSIN THE SUBCELLULAR-LOCALIZATION OF HUNTINGTIN IN HUMAN, MOUSE AND RAT-BRAIN
Authors: WOOD JD MACMILLAN JC HARPER PS LOWENSTEIN PR JONES AL
Citation: Jd. Wood et al., PARTIAL CHARACTERIZATION OF MURINE HUNTINGTIN AND APPARENT VARIATIONSIN THE SUBCELLULAR-LOCALIZATION OF HUNTINGTIN IN HUMAN, MOUSE AND RAT-BRAIN, Human molecular genetics, 5(4), 1996, pp. 481-487
NEUROPATHOLOGICAL DIAGNOSIS AND CAG REPEAT EXPANSION IN HUNTINGTONS-DISEASE
Authors: XUEREB JH MACMILLAN JC SNELL R DAVIES P HARPER PS
Citation: Jh. Xuereb et al., NEUROPATHOLOGICAL DIAGNOSIS AND CAG REPEAT EXPANSION IN HUNTINGTONS-DISEASE, Journal of Neurology, Neurosurgery and Psychiatry, 60(1), 1996, pp. 78-81
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
Authors: 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
Citation: Dc. Rubinsztein et al., 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, 59(1), 1996, pp. 16-22
CHARACTERIZING THE HUNTINGTONS-DISEASE GENE-PRODUCT
Authors: WOOD J MACMILLAN JC THOMAS P LOWENSTEIN PR HARPER PS JONES AL
Citation: J. Wood et al., CHARACTERIZING THE HUNTINGTONS-DISEASE GENE-PRODUCT, Biochemical Society transactions, 23(4), 1995, pp. 595-595
MOLECULAR DIAGNOSTIC-ANALYSIS FOR HUNTINGTONS-DISEASE - A PROSPECTIVEEVALUATION
Authors: MACMILLAN JC DAVIES P HARPER PS
Citation: Jc. Macmillan et al., MOLECULAR DIAGNOSTIC-ANALYSIS FOR HUNTINGTONS-DISEASE - A PROSPECTIVEEVALUATION, Journal of Neurology, Neurosurgery and Psychiatry, 58(4), 1995, pp. 496-498
SUBCELLULAR-DISTRIBUTION AND CHARACTERIZATION OF THE HUNTINGTONS-DISEASE GENE-PRODUCT IN HUMAN AND MOUSE-BRAIN
Authors: WOOD J MACMILLAN JC HARPER PS JONES AL
Citation: J. Wood et al., SUBCELLULAR-DISTRIBUTION AND CHARACTERIZATION OF THE HUNTINGTONS-DISEASE GENE-PRODUCT IN HUMAN AND MOUSE-BRAIN, American journal of human genetics, 57(4), 1995, pp. 1473-1473
LIGHT-MICROSCOPIC ANALYSIS OF THE DISTRIBUTION OF THE HUNTINGTON DISEASE PROTEIN IN MURINE BRAIN
Authors: MACMILLAN JC THOMAS P WOOD J JONES AL HARPER PS LOWENSTEIN PR
Citation: Jc. Macmillan et al., LIGHT-MICROSCOPIC ANALYSIS OF THE DISTRIBUTION OF THE HUNTINGTON DISEASE PROTEIN IN MURINE BRAIN, American journal of human genetics, 57(4), 1995, pp. 1823-1823
A STUDY COMPARING MUTATION TRIPLET REPEAT SIZE AND PHENOTYPES IN PATIENTS WITH HUNTINGTON DISEASE
Authors: NEAL JW FENTON I MACMILLAN JC TYLER A BALL D SHAW DJ HARPER PS SNELL RG
Citation: Jw. Neal et al., A STUDY COMPARING MUTATION TRIPLET REPEAT SIZE AND PHENOTYPES IN PATIENTS WITH HUNTINGTON DISEASE, Neurodegeneration, 3(1), 1994, pp. 73-77
CLINICAL GENETICS IN NEUROLOGICAL DISEASE
Authors: MACMILLAN JC HARPER PS
Citation: Jc. Macmillan et Ps. Harper, CLINICAL GENETICS IN NEUROLOGICAL DISEASE, Journal of Neurology, Neurosurgery and Psychiatry, 57(1), 1994, pp. 7-15
THE CHARCOT-MARIE-TOOTH-SYNDROME - CLINICAL ASPECTS FROM A POPULATIONSTUDY IN SOUTH WALES, UK
Authors: MACMILLAN JC HARPER PS
Citation: Jc. Macmillan et Ps. Harper, THE CHARCOT-MARIE-TOOTH-SYNDROME - CLINICAL ASPECTS FROM A POPULATIONSTUDY IN SOUTH WALES, UK, Clinical genetics, 45(3), 1994, pp. 128-134
RELATIONSHIP BETWEEN TRINUCLEOTIDE REPEAT EXPANSION AND PHENOTYPIC VARIATION IN HUNTINGTONS-DISEASE
Authors: SNELL RG MACMILLAN JC CHEADLE JP FENTON I LAZAROU LP DAVIES P MACDONALD ME GUSELLA JF HARPER PS SHAW DJ
Citation: Rg. Snell et al., RELATIONSHIP BETWEEN TRINUCLEOTIDE REPEAT EXPANSION AND PHENOTYPIC VARIATION IN HUNTINGTONS-DISEASE, Nature genetics, 4(4), 1993, pp. 393-397
CHARCOT-MARIE-TOOTH DISEASE 1A (CMT1A) ASSOCIATED WITH A MATERNAL DUPLICATION OF CHROMOSOME-17P11.2-]12
Authors: UPADHYAYA M ROBERTS SH FARNHAM J MACMILLAN JC CLARKE A HEATH JP HODGES ICG HARPER PS
Citation: M. Upadhyaya et al., CHARCOT-MARIE-TOOTH DISEASE 1A (CMT1A) ASSOCIATED WITH A MATERNAL DUPLICATION OF CHROMOSOME-17P11.2-]12, Human genetics, 91(4), 1993, pp. 392-394
MOLECULAR ANALYSIS AND CLINICAL CORRELATIONS OF THE HUNTINGTONS-DISEASE MUTATION
Authors: MACMILLAN JC SNELL RG TYLER A HOULIHAN GD FENTON I CHEADLE JP LAZAROU LP SHAW DJ HARPER PS
Citation: Jc. Macmillan et al., MOLECULAR ANALYSIS AND CLINICAL CORRELATIONS OF THE HUNTINGTONS-DISEASE MUTATION, Lancet, 342(8877), 1993, pp. 954-958
IDENTIFICATION OF AN EXPANDED CAG REPEAT IN THE HUNTINGTONS-DISEASE GENE (IT15) IN A FAMILY REPORTED TO HAVE BENIGN HEREDITARY CHOREA
Authors: MACMILLAN JC MORRISON PJ NEVIN NC SHAW DJ HARPER PS QUARRELL OWJ SNELL RG
Citation: Jc. Macmillan et al., IDENTIFICATION OF AN EXPANDED CAG REPEAT IN THE HUNTINGTONS-DISEASE GENE (IT15) IN A FAMILY REPORTED TO HAVE BENIGN HEREDITARY CHOREA, Journal of Medical Genetics, 30(12), 1993, pp. 1012-1013
15TH INTERNATIONAL WORLD-FEDERATION-OF-NEUROLOGY WORKSHOP ON HUNTINGTONS-DISEASE, 31 AUGUST 3 SEPTEMBER 1993, BOSTON, MASSACHUSETTS, USA
Authors: MACMILLAN JC QUINN NP
Citation: Jc. Macmillan et Np. Quinn, 15TH INTERNATIONAL WORLD-FEDERATION-OF-NEUROLOGY WORKSHOP ON HUNTINGTONS-DISEASE, 31 AUGUST 3 SEPTEMBER 1993, BOSTON, MASSACHUSETTS, USA, Journal of Medical Genetics, 30(12), 1993, pp. 1039-1041
CATARACT AND MYOTONIC-DYSTROPHY - THE ROLE OF MOLECULAR DIAGNOSIS
Authors: REARDON W MACMILLAN JC MYRING J HARLEY HG RUNDLE SA BECK L HARPER PS SHAW DJ
Citation: W. Reardon et al., CATARACT AND MYOTONIC-DYSTROPHY - THE ROLE OF MOLECULAR DIAGNOSIS, British journal of ophthalmology, 77(9), 1993, pp. 579-583
AGE-AT-ONSET EFFECTS OF THE (CAG)N REPEAT INHERITED FROM THE NON-HD PARENT - EVIDENCE FOR IMPRINTING OF THE HD GENE
Authors: MACMILLAN JC SNELL R SHAW DJ HARPER PS
Citation: Jc. Macmillan et al., AGE-AT-ONSET EFFECTS OF THE (CAG)N REPEAT INHERITED FROM THE NON-HD PARENT - EVIDENCE FOR IMPRINTING OF THE HD GENE, American journal of human genetics, 53(3), 1993, pp. 471-471
THE ANALYSIS OF THE EXPANDED TRINUCLEOTIDE REPEAT CAUSING HUNTINGTONS-DISEASE IN 440 PATIENTS FROM 269 KINDREDS
Authors: SNELL RG MACMILLAN JC CHEADLE JP FENTON I LAZAROU LP DAVIES P HARPER PS SHAW DJ
Citation: Rg. Snell et al., THE ANALYSIS OF THE EXPANDED TRINUCLEOTIDE REPEAT CAUSING HUNTINGTONS-DISEASE IN 440 PATIENTS FROM 269 KINDREDS, American journal of human genetics, 53(3), 1993, pp. 1231-1231
ARE CATARACT PATIENTS AT HIGH-RISK OF BEING MINIMAL DM GENE CARRIERS
Authors: HARLEY HG PHILLIPS M BARNETSON R SHAW AM MACMILLAN JC SHAW DJ HEATH D BECK L HARPER PS
Citation: Hg. Harley et al., ARE CATARACT PATIENTS AT HIGH-RISK OF BEING MINIMAL DM GENE CARRIERS, American journal of human genetics, 53(3), 1993, pp. 1730-1730
SIZE OF THE UNSTABLE CTG REPEAT SEQUENCE IN RELATION TO PHENOTYPE ANDPARENTAL TRANSMISSION IN MYOTONIC-DYSTROPHY
Authors: HARLEY HG RUNDLE SA MACMILLAN JC MYRING J BROOK JD CROW S REARDON W FENTON I SHAW DJ HARPER PS
Citation: Hg. Harley et al., SIZE OF THE UNSTABLE CTG REPEAT SEQUENCE IN RELATION TO PHENOTYPE ANDPARENTAL TRANSMISSION IN MYOTONIC-DYSTROPHY, American journal of human genetics, 52(6), 1993, pp. 1164-1174
Risultati: 1-24 |