AAAAAA

   
Results: 1-25 | 26-43
Results: 1-25/43
GENETIC DISSECTION OF FAMILIAL PARKINSONS-DISEASE
Authors: RIESS O JAKES R KRUGER R
Citation: O. Riess et al., GENETIC DISSECTION OF FAMILIAL PARKINSONS-DISEASE, Molecular medicine today, 4(10), 1998, pp. 438-444
ALA30PRO MUTATION IN THE GENE ENCODING ALPHA-SYNUCLEIN IN PARKINSONS-DISEASE
Authors: KRUGER R KUHN W MULLER T WOITALLA D GRAEBER M KOSEL S PRZUNTEK H EPPLEN JT SCHOLS L RIESS O
Citation: R. Kruger et al., ALA30PRO MUTATION IN THE GENE ENCODING ALPHA-SYNUCLEIN IN PARKINSONS-DISEASE, Nature genetics, 18(2), 1998, pp. 106-108
AN ISOFORM OF ATAXIN-3 ACCUMULATES IN THE NUCLEUS OF NEURONAL CELLS IN AFFECTED BRAIN-REGIONS OF SCA3 PATIENTS
Authors: SCHMIDT T LANDWEHRMEYER GB SCHMITT I TROTTIER Y AUBURGER G LACCONE F KLOCKGETHER T VOLPEL M EPPLEN JT SCHOLS L RIESS O
Citation: T. Schmidt et al., AN ISOFORM OF ATAXIN-3 ACCUMULATES IN THE NUCLEUS OF NEURONAL CELLS IN AFFECTED BRAIN-REGIONS OF SCA3 PATIENTS, Brain pathology, 8(4), 1998, pp. 669-679
THE MJD1 GENE-PRODUCT IS LOCALIZED CYTOPLASMATICALLY IN NORMAL INDIVIDUALS BUT ACCUMULATES IN THE NUCLEUS OF NEURONAL CELLS IN AFFECTED BRAIN-REGIONS
Authors: IHL S LANDWEHREYER B SCHMITT I RIESS O
Citation: S. Ihl et al., THE MJD1 GENE-PRODUCT IS LOCALIZED CYTOPLASMATICALLY IN NORMAL INDIVIDUALS BUT ACCUMULATES IN THE NUCLEUS OF NEURONAL CELLS IN AFFECTED BRAIN-REGIONS, European journal of neuroscience, 10, 1998, pp. 12206-12206
THE GENE ENCODING THE ALPHA(1A)-VOLTAGE-DEPENDENT CALCIUM-CHANNEL (CACN1A4) IS NOT A CANDIDATE FOR CAUSING COMMON SUBTYPES OF IDIOPATHIC GENERALIZED EPILEPSY
Authors: SANDER T PETERS C JANZ D BIANCHI A BAUER G WIENKER TF HILDMANN T EPPLEN JT RIESS O
Citation: T. Sander et al., THE GENE ENCODING THE ALPHA(1A)-VOLTAGE-DEPENDENT CALCIUM-CHANNEL (CACN1A4) IS NOT A CANDIDATE FOR CAUSING COMMON SUBTYPES OF IDIOPATHIC GENERALIZED EPILEPSY, Epilepsy research, 29(2), 1998, pp. 115-122
SPINOCEREBELLAR ATAXIA TYPE-6 - GENOTYPE AND PHENOTYPE IN GERMAN KINDREDS
Authors: SCHOLS L KRUGER R AMOIRIDIS G PRZUNTEK H EPPLEN JT RIESS O
Citation: L. Schols et al., SPINOCEREBELLAR ATAXIA TYPE-6 - GENOTYPE AND PHENOTYPE IN GERMAN KINDREDS, Journal of Neurology, Neurosurgery and Psychiatry, 64(1), 1998, pp. 67-73
REPLICATION ANALYSIS OF A PUTATIVE SUSCEPTIBILITY LOCUS (EGI) FOR IDIOPATHIC GENERALIZED EPILEPSY ON CHROMOSOME 8Q24
Authors: SANDER T KRETZ R SCHULZ H SAILER U BAUER G SCARAMELLI A EPPLEN JT RIESS O JANZ D
Citation: T. Sander et al., REPLICATION ANALYSIS OF A PUTATIVE SUSCEPTIBILITY LOCUS (EGI) FOR IDIOPATHIC GENERALIZED EPILEPSY ON CHROMOSOME 8Q24, Epilepsia, 39(7), 1998, pp. 715-720
THE NATURAL-HISTORY OF DEGENERATIVE ATAXIA - A RETROSPECTIVE STUDY IN466 PATIENTS
Authors: KLOCKGETHER T LUDTKE R KRAMER B BURK K SCHOLS L RIESS O LACCONE F BOESCH S LOPESCENDES I BRICE A INZELBERG R ZILBER N DICHGANS J
Citation: T. Klockgether et al., THE NATURAL-HISTORY OF DEGENERATIVE ATAXIA - A RETROSPECTIVE STUDY IN466 PATIENTS, Brain, 121, 1998, pp. 589-600
SCA6 IS CAUSED BY MODERATE CAG EXPANSION IN THE ALPHA(1A)-VOLTAGE-DEPENDENT CALCIUM-CHANNEL GENE
Authors: RIESS O SCHOLS L BOTTGER H NOLTE D VIEIRASAECKER AMM SCHIMMING C KREUZ F MACEK M KREBSOVA A MACEK M KLOCKGETHER T ZUHLKE C LACCONE FA
Citation: O. Riess et al., SCA6 IS CAUSED BY MODERATE CAG EXPANSION IN THE ALPHA(1A)-VOLTAGE-DEPENDENT CALCIUM-CHANNEL GENE, Human molecular genetics, 6(8), 1997, pp. 1289-1293
MOLECULAR-GENETICS, CLASSIFICATION AND PH ENOTYPES IN HEREDITARY ATAXIAS
Authors: SCHOLS L RIESS O AMOIRIDIS G RIESS A PRZUNTEK H EPPLEN JT
Citation: L. Schols et al., MOLECULAR-GENETICS, CLASSIFICATION AND PH ENOTYPES IN HEREDITARY ATAXIAS, Fortschritte der Neurologie, Psychiatrie, 65(2), 1997, pp. 79-89
AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA - PHENOTYPIC DIFFERENCES IN GENETICALLY DEFINED SUBTYPES
Authors: SCHOLS L AMOIRIDIS G BUTTNER T PRZUNTEK H EPPLEN JT RIESS O
Citation: L. Schols et al., AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA - PHENOTYPIC DIFFERENCES IN GENETICALLY DEFINED SUBTYPES, Annals of neurology, 42(6), 1997, pp. 924-932
TRANSMISSION DISTORTION OF THE MUTANT ALLELES IN SPINOCEREBELLAR ATAXIA
Authors: RIESS O EPPLEN JT AMOIRIDIS G PRZUNTEK H SCHOLS L
Citation: O. Riess et al., TRANSMISSION DISTORTION OF THE MUTANT ALLELES IN SPINOCEREBELLAR ATAXIA, Human genetics, 99(2), 1997, pp. 282-284
HIGH-RESOLUTION CHARACTERIZATION OF AN INTERSTITIAL DELETION OF LESS-THAN 1.9 MB AT 4P16.3 ASSOCIATED WITH WOLF-HIRSCHHORN-SYNDROME
Authors: FANG YY BAIN S HAAN EA EYRE HJ MACDONALD M WRIGHT TJ ALTHERR MR RIESS O SUTHERLAND G CALLEN DF
Citation: Yy. Fang et al., HIGH-RESOLUTION CHARACTERIZATION OF AN INTERSTITIAL DELETION OF LESS-THAN 1.9 MB AT 4P16.3 ASSOCIATED WITH WOLF-HIRSCHHORN-SYNDROME, American journal of medical genetics, 71(4), 1997, pp. 453-457
REFINED MAPPING OF THE EPILEPSY SUSCEPTIBILITY LOCUS EJM1 ON CHROMOSOME-6
Authors: SANDER T BOCKENKAMP B HILDMANN T BLASCZYK R KRETZ R WIENKER TF VOLZ A SCHMITZ B BECKMANNAGETTA G RIESS O EPPLEN JT JANZ D ZIEGLER A
Citation: T. Sander et al., REFINED MAPPING OF THE EPILEPSY SUSCEPTIBILITY LOCUS EJM1 ON CHROMOSOME-6, Neurology, 49(3), 1997, pp. 842-847
AVOIDING ERRORS IN THE DIAGNOSIS OF (CAG)(II) EXPANSION IN THE HUNTINGTON GENE
Authors: HOLZMANN C SAECKER AMMV EPPLEN JT RIESS O
Citation: C. Holzmann et al., AVOIDING ERRORS IN THE DIAGNOSIS OF (CAG)(II) EXPANSION IN THE HUNTINGTON GENE, Journal of Medical Genetics, 34(3), 1997, pp. 264-264
SPINOCEREBELLAR ATAXIA TYPE-2 - GENOTYPE AND PHENOTYPE IN GERMAN KINDREDS
Authors: SCHOLS L GISPERT S VORGERD M VIEIRASAECKER MM BLANKE P AUBURGER G AMOIRIDIS G MEVES S EPPLEN JT PRZUNTEK H PULST SM RIESS O
Citation: L. Schols et al., SPINOCEREBELLAR ATAXIA TYPE-2 - GENOTYPE AND PHENOTYPE IN GERMAN KINDREDS, Archives of neurology, 54(9), 1997, pp. 1073-1080
LINKAGE OF A 2ND FAMILY TO THE DFNA6 DEAFNESS LOCUS ON CHROMOSOME 4P16.3, AND IDENTIFICATION OF A DEAF PATIENT WITH A CHROMOSOMAL INVERSIONTHROUGH THIS REGION
Authors: VANCAMP G KUNST H FLOTHMANN K WAUTERS J BOSSUYT P VERSTREKEN M ZLOTOGORA J RIESS O MARRES H CREMERS CWRJ WILLEMS PJ
Citation: G. Vancamp et al., LINKAGE OF A 2ND FAMILY TO THE DFNA6 DEAFNESS LOCUS ON CHROMOSOME 4P16.3, AND IDENTIFICATION OF A DEAF PATIENT WITH A CHROMOSOMAL INVERSIONTHROUGH THIS REGION, American journal of human genetics, 61(4), 1997, pp. 1741-1741
CDNA CLONING AND EXPRESSION OF RSCA1, THE RAT COUNTERPART OF THE HUMAN SPINOCEREBELLAR ATAXIA TYPE-1 GENE
Authors: GOSSEN M SCHMITT I OBST K WAHLE P EPPLEN JT RIESS O
Citation: M. Gossen et al., CDNA CLONING AND EXPRESSION OF RSCA1, THE RAT COUNTERPART OF THE HUMAN SPINOCEREBELLAR ATAXIA TYPE-1 GENE, Human molecular genetics, 5(3), 1996, pp. 381-389
HUMAN TXK - GENOMIC ORGANIZATION, STRUCTURE AND CONTIGUOUS PHYSICAL LINKAGE WITH THE TEC GENE
Authors: OHTA Y HAIRE RN AMEMIYA CT LITMAN RT TRAGER T RIESS O LITMAN GW
Citation: Y. Ohta et al., HUMAN TXK - GENOMIC ORGANIZATION, STRUCTURE AND CONTIGUOUS PHYSICAL LINKAGE WITH THE TEC GENE, Oncogene, 12(4), 1996, pp. 937-942
CLONING, SEQUENCING AND FUNCTIONAL-STUDIES OF THE GENE ENCODING HUMANGTP CYCLOHYDROLASE-I
Authors: WITTER K WERNER T BLUSCH JH SCHNEIDER EM RIESS O ZIEGLER I RODL W BACHER A GUTLICH M
Citation: K. Witter et al., CLONING, SEQUENCING AND FUNCTIONAL-STUDIES OF THE GENE ENCODING HUMANGTP CYCLOHYDROLASE-I, Gene, 171(2), 1996, pp. 285-290
REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-4 MAPPING 1996
Authors: RIESS O KOZAK C VANOMMEN GJ
Citation: O. Riess et al., REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-4 MAPPING 1996, Cytogenetics and cell genetics, 74(1-2), 1996, pp. 58-67
RELATIONS BETWEEN GENOTYPE AND PHENOTYPE IN GERMAN PATIENTS WITH THE MACHADO-JOSEPH-DISEASE MUTATION
Authors: SCHOLS L AMOIRIDIS G EPPLEN JT LANGKAFEL M PRZUNTEK H RIESS O
Citation: L. Schols et al., RELATIONS BETWEEN GENOTYPE AND PHENOTYPE IN GERMAN PATIENTS WITH THE MACHADO-JOSEPH-DISEASE MUTATION, Journal of Neurology, Neurosurgery and Psychiatry, 61(5), 1996, pp. 466-470
PREDOMINANT NEURONAL EXPRESSION OF THE GENE RESPONSIBLE FOR DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA) IN RAT
Authors: SCHMITT I EPPLEN JT RIESS O
Citation: I. Schmitt et al., PREDOMINANT NEURONAL EXPRESSION OF THE GENE RESPONSIBLE FOR DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA) IN RAT, Human molecular genetics, 4(9), 1995, pp. 1619-1624
EXPRESSION OF THE HUNTINGTON-DISEASE GENE IN RODENTS - CLONING THE RAT HOMOLOG AND EVIDENCE FOR DOWN-REGULATION IN NONNEURONAL TISSUES DURING DEVELOPMENT
Authors: SCHMITT I BACHNER D MEGOW D HENKLEIN P HAMEISTER H EPPLEN JT RIESS O
Citation: I. Schmitt et al., EXPRESSION OF THE HUNTINGTON-DISEASE GENE IN RODENTS - CLONING THE RAT HOMOLOG AND EVIDENCE FOR DOWN-REGULATION IN NONNEURONAL TISSUES DURING DEVELOPMENT, Human molecular genetics, 4(7), 1995, pp. 1173-1182
TRINUCLEOTIDE EXPANSION WITHIN THE MJD1 GENE PRESENTS CLINICALLY AS SPINOCEREBELLAR ATAXIA AND OCCURS MOST FREQUENTLY IN GERMAN SCA PATIENTS
Authors: SCHOLS L VIEIRASAECKER AMM SCHOLS S PRZUNTEK H EPPLEN JT RIESS O
Citation: L. Schols et al., TRINUCLEOTIDE EXPANSION WITHIN THE MJD1 GENE PRESENTS CLINICALLY AS SPINOCEREBELLAR ATAXIA AND OCCURS MOST FREQUENTLY IN GERMAN SCA PATIENTS, Human molecular genetics, 4(6), 1995, pp. 1001-1005
Risultati: 1-25 | 26-43