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    1. Massat, I; Souery, D; Del-Favero, J; Oruc, L; Jakovljevic, M; Folnegovic, V; Adolfsson, R; Kaneva, R; Papadimitriou, G; Dikeos, D; Jazin, E; Milanova, V; Van Broeckhoven, C; Mendlewicz, J
      Lack of association between GABRA3 and unipolar affective disorder: a multicentre study

      INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY
    2. Lerer, B; Macciardi, F; Segman, RH; Adolfsson, R; Blackwood, D; Blairy, S; Del Favero, J; Dikeos, DG; Kaneva, R; Lilli, R; Massat, I; Milanova, V; Muir, W; Noethen, M; Oruc, L; Petrova, T; Papadimitriou, GN; Rietschel, M; Serretti, A; Souery, D; Van Gestel, S; Van Broeckhoven, C; Mendlewicz, J
      Variability of 5-HT2C receptor cys23ser polymorphism among European populations and vulnerability to affective disorder

      MOLECULAR PSYCHIATRY
    3. Van Goethem, G; Dermaut, B; Lofgren, A; Martin, JJ; Van Broeckhoven, C
      Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

      NATURE GENETICS
    4. Ismailov, SM; Fedotov, VP; Dadali, EL; Polyakov, AV; Van Broeckhoven, C; Ivanov, VI; De Jonghe, P; Timmerman, V; Evgrafov, OV
      A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

      EUROPEAN JOURNAL OF HUMAN GENETICS
    5. De Jonghe, C; Esselens, C; Kumar-Singh, S; Craessaerts, K; Serneels, S; Checler, F; Annaert, W; Van Broeckhoven, C; De Strooper, B
      Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect A beta secretion and APP C-terminal fragment stability

      HUMAN MOLECULAR GENETICS
    6. Meuleman, J; Pou-Serradell, A; Lofgren, A; Ceuterick, C; Martin, JJ; Timmerman, V; Van Broeckhoven, C; De Jonghe, P
      A novel 3 '-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies

      NEUROMUSCULAR DISORDERS
    7. Van Tendeloo, VFI; Van Broeckhoven, C; Berneman, ZN
      Gene therapy: principles and applications to hematopoietic cells

      LEUKEMIA
    8. Van Tendeloo, VFI; Van Broeckhoven, C; Berneman, ZN
      Gene-based cancer vaccines: an ex vivo approach

      LEUKEMIA
    9. Michalik, A; Kazantsev, A; Van Broeckhoven, C
      Method to introduce stable, expanded, polyglutamine-encoding CAG/CAA trinucleotide repeats into CAG repeat-containing genes

      BIOTECHNIQUES
    10. De Jonghe, P; Mersivanova, I; Nelis, E; Del Favero, J; Martin, JJ; Van Broeckhoven, C; Evgrafov, OC; Timmerman, V
      Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E

      ANNALS OF NEUROLOGY
    11. Goossens, D; Del-Favero, J; Van Broeckhoven, C
      Trinucleotide repeat expansions: Do they contribute to bipolar disorder?

      BRAIN RESEARCH BULLETIN
    12. Ceuterick-de Groote, C; De Jonghe, P; Timmerman, V; Van Goethem, G; Lofgren, A; Ceulemans, B; Van Broeckhoven, C; Martin, JJ
      Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy

      PATHOLOGY RESEARCH AND PRACTICE
    13. Theuns, J; Feuk, L; Dermaut, B; Del-Favero, J; Roks, G; Van den Bossche, D; Corsmit, E; Van den Broeck, M; van Duijn, CM; Cruts, M; Brookes, AJ; Van Broeckhoven, C
      The TNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease

      HUMAN GENETICS
    14. Meuleman, J; Kuhlenbaumer, G; Audenaert, D; Hunermund, G; Hor, H; Young, P; Stogbauer, F; Ringelstein, EB; Van Broeckhoven, C; De Jonghe, P; Timmerman, V
      Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy(HNA)

      HUMAN GENETICS
    15. Dermaut, B; Roks, G; Theuns, J; Rademakers, R; Houwing-Duistermaat, JJ; Serneels, S; Hofman, A; Breteler, MMB; Cruts, M; Van Broeckhoven, C; van Duijn, CM
      Variable expression of presenilin 1 is not a major determinant of risk forlate-onset Alzheimer's Disease

      JOURNAL OF NEUROLOGY
    16. Kuhlenbaumer, G; Meuleman, J; De Jonghe, P; Falck, B; Young, P; Hunermund, G; Van Broeckhoven, C; Timmerman, V; Stogbauer, F
      Hereditary neuralgic amyotrophy (HNA) is genetically heterogeneous

      JOURNAL OF NEUROLOGY
    17. Van Everbroeck, B; Croes, EA; Pals, P; Dermaut, B; Jansen, G; van Duijn, CM; Cruts, M; Van Broeckhoven, C; Martin, JJ; Cras, P
      Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob Disease phenotype

      NEUROSCIENCE LETTERS
    18. Arango, D; Cruts, M; Torres, O; Backhovens, H; Serrano, ML; Villareal, E; Montanes, P; Matallana, D; Cano, C; Van Broeckhoven, C; Jacquier, M
      Systematic genetic study of Alzheimer disease in Latin America: Mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. Slooter, AJC; Bots, ML; Havekes, LM; del Sol, AI; Cruts, M; Grobbee, DE; Hofman, A; Van Broeckhoven, C; Witteman, JCM; van Duijn, CM
      Apolipoprotein E and carotid artery atherosclerosis - The Rotterdam study

      STROKE
    20. Roks, G; Cruts, M; Slooter, AJC; Dermaut, B; Hofman, A; Van Broeckhoven, C; Van Duijn, CM
      The cystatin C polymorphism is not associated with early onset Alzheimer'sdisease

      NEUROLOGY
    21. Roymans, D; Vissenberg, K; De Jonghe, C; Grobben, B; Claes, P; Verbelen, JP; Van Broeckhoven, C; Slegers, H
      Phosphatidylinositol 3-kinase activity is required for the expression of glial fibrillary acidic protein upon cAMP-dependent induction of differentiation in rat C6 glioma

      JOURNAL OF NEUROCHEMISTRY
    22. Roymans, D; Vissenberg, K; De Jonghe, C; Willems, R; Engler, G; Kimura, N; Grobben, B; Claes, P; Verbelen, JP; Van Broeckhoven, C; Slegers, H
      Identification of the tumor metastasis suppressor Nm23-H1/Nm23-R1 as a constituent of the centrosome

      EXPERIMENTAL CELL RESEARCH
    23. Fujigasaki, H; Martin, JJ; De Deyn, PP; Camuzat, A; Deffond, D; Stevanin, G; Dermaut, B; Van Broeckhoven, C; Durr, A; Brice, A
      CAG repeat expansion in the TATA box-binding protein gene causes autosomaldominant cerebellar ataxia

      BRAIN
    24. Van Tendeloo, VFI; Ponsaerts, P; Lardon, F; Nijs, G; Lenjou, M; Van Broeckhoven, C; Van Bockstaele, DR; Berneman, ZN
      Highly efficient gene delivery by mRNA electroporation in human hematopoietic cells: superiority to lipofection and passive pulsing of mRNA and to electroporation of plasmid cDNA for tumor antigen loading of dendritic cells

      BLOOD
    25. Souery, D; Van Gestel, S; Massat, I; Blairy, S; Adolfsson, R; Blackwood, D; Del-Favero, J; Dikeos, D; Jakovljevic, M; Kaneva, R; Lattuada, E; Lerer, B; Lilli, L; Milanova, V; Muir, W; Nothen, M; Oruc, L; Papadimitriou, G; Propping, P; Schulze, T; Serretti, A; Shapira, B; Smeraldi, E; Stefanis, C; Thomson, M; Van Broeckhoven, C; Mendlewicz, J
      Tryptophan hydroxylase polymorphism and suicidality in unipolar and bipolar affective disorders: A multicenter association study

      BIOLOGICAL PSYCHIATRY
    26. Claes, L; Del-Favero, J; Ceulemans, B; Lagae, L; Van Broeckhoven, C; De Jonghe, P
      De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

      AMERICAN JOURNAL OF HUMAN GENETICS
    27. Van Gassen, G; De Jonghe, C; Kuhn, S; Lubke, U; Kumar-Singh, S; Martin, JJ; Van Broeckhoven, C
      Effect of presenilin 1 expression on 20S proteasome subcellular localization

      ALZHEIMERS REPORTS
    28. Mclnnis, MG; Swift-Scanlanl, T; Mahoney, AT; Vincent, J; Verheyen, G; Lan, TH; Oruc, L; Riess, O; Van Broeckhoven, C; Chen, H; Kennedy, JL; MacKinnon, DF; Margolis, RL; Simpson, SG; McMahon, FJ; Gershon, E; Nurnberger, J; Reich, T; DePaulo, JR; Ross, CA
      Allelic distribution of CTG18.1 in Caucasian populations: association studies in bipolar disorder, schizophrenia, and ataxia

      MOLECULAR PSYCHIATRY
    29. Van Gassen, G; De Jonghe, C; Nishimura, M; Yu, G; Kuhn, S; St George-Hyslop, PS; Van Broeckhoven, C
      Evidence that the beta-catenin nuclear translocation assay allows for measuring presenilin 1 dysfunction

      MOLECULAR MEDICINE
    30. Timmerman, V; De Jonghe, P; Van Broeckhoven, C
      Of giant axons and curly hair

      NATURE GENETICS
    31. Mersiyanova, IV; Ismailov, SM; Polyakov, AV; Dadali, EL; Fedotov, VP; Nelis, E; Lofgren, A; Timmerman, V; Van Broeckhoven, C; Evgrafov, OV
      Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32(GJB1) in Russian Charcot-Marie-Tooth neuropathy patients (vol 15, pg 340,2000)

      HUMAN MUTATION
    32. Mersiyanova, IV; Ismailov, SM; Polyakov, AV; Dadali, EL; Fedotov, VP; Nelis, E; Lofgren, A; Timmerman, V; Van Broeckhoven, C; Evgrafov, OV
      Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32(GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

      HUMAN MUTATION
    33. Goossens, D; Villafuerte, S; Tissir, F; Van Gestel, S; Claes, S; Souery, D; Massat, I; Van den Bossche, D; Van Zand, K; Mendlewicz, J; Van Broeckhoven, C; Del-Favero, J
      No evidence for the involvement of CAG/CTG repeats from within 18q21.33-q23 in bipolar disorder

      EUROPEAN JOURNAL OF HUMAN GENETICS
    34. Van Gassen, G; Annaert, W; Van Broeckhoven, C
      Binding partners of Alzheimer's disease proteins: Are they physiologicallyrelevant? (vol 7, pg 135, 2000)

      NEUROBIOLOGY OF DISEASE
    35. Van Gassen, G; Annaert, W; Van Broeckhoven, C
      Binding partners of Alzheimer's disease proteins: Are they physiologicallyrelevant?

      NEUROBIOLOGY OF DISEASE
    36. Muller, HW; Suter, U; Van Broeckhoven, C
      Advances in Charcot-Marie-Tooth disease research: Cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms (vol 4, pg215, 1997)

      NEUROBIOLOGY OF DISEASE
    37. Kumar-Singh, S; Dewachter, I; Moechars, D; Lubke, U; De Jonghe, C; Ceuterick, C; Checler, F; Naidu, A; Cordell, B; Cras, P; Van Broeckhoven, C; Van Leuven, F
      Behavioral disturbances without amyloid deposits in mice overexpressing human amyloid precursor protein with Flemish (A692G) or Dutch (E693Q) mutation

      NEUROBIOLOGY OF DISEASE
    38. Van Tendeloo, VFI; Willems, R; Ponsaerts, P; Lenjou, M; Nijs, G; Vanhove, M; Muylaert, P; Van Cauwelaert, P; Van Broeckhoven, C; Van Bockstaele, DR; Berneman, ZN
      High-level transgene expression in primary human T lymphocytes and adult bone marrow CD34(+) cells via electroporation-mediated gene delivery

      GENE THERAPY
    39. Theuns, J; Del-Favero, J; Dermaut, B; van Duijn, CM; Backhovens, H; Van den Broeck, M; Serneels, S; Corsmit, E; Van Broeckhoven, C; Cruts, M
      Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression

      HUMAN MOLECULAR GENETICS
    40. Kumar-Singh, S; De Jonghe, C; Cruts, M; Kleinert, R; Wang, R; Mercken, M; De Strooper, B; Vanderstichele, H; Lofgren, A; Vanderhoeven, I; Backhovens, H; Vanmechelen, E; Kroisel, PM; Van Broeckhoven, C
      Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease

      HUMAN MOLECULAR GENETICS
    41. Theuns, J; Van Broeckhoven, C
      Transcriptional regulation of Alzheimer's disease genes: implications for susceptibility

      HUMAN MOLECULAR GENETICS
    42. Irobi, J; Tissir, F; De Jonghe, P; De Vriendt, E; Van Broeckhoven, C; Timmerman, V; Beuten, J
      A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene

      GENOMICS
    43. Houlden, H; Baker, M; McGowan, E; Lewis, P; Hutton, M; Crook, R; Wood, NW; Kumar-Singh, S; Geddes, J; Swash, M; Scaravilli, F; Holton, JL; Lashley, T; Tomita, T; Hashimoto, T; Verkkoniemi, A; Kalimo, H; Somer, M; Paetau, A; Martin, JJ; Van Broeckhoven, C; Golde, T; Hardy, J; Haltia, M; Revesz, T
      Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-betaconcentrations

      ANNALS OF NEUROLOGY
    44. Young, P; Stogbauer, F; Eller, B; de Jonghe, P; Lofgren, A; Timmerman, V; Rautenstrauss, B; Oexle, K; Grehl, H; Kuhlenbaumer, G; Van Broeckhoven, C; Ringelstein, EB; Funke, H
      PMP22 Thr118Met is not a clinically relevant CMT1 marker

      JOURNAL OF NEUROLOGY
    45. Dermaut, B; Cruts, M; Backhovens, H; Lubke, U; Van Everbroeck, B; Sciot, R; Dom, R; Martin, JJ; Van Broeckhoven, C; Cras, P
      Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin1 missense substitution and a prion protein gene insertion

      JOURNAL OF NEUROLOGY
    46. Van Gassen, G; Van Broeckhoven, C
      Molecular genetics of Alzheimer's disease: what have we learned?

      ACTA NEUROLOGICA BELGICA
    47. Van Tendeloo, VFI; Ponsaerts, P; Van Broeckhoven, C; Berneman, ZN; Van Bockstaele, DR
      Efficient generation of stably electrotransfected human hematopoietic celllines without drug selection by consecutive FACsorting

      CYTOMETRY
    48. Serretti, A; Macciardi, F; Cusin, C; Lattuada, E; Souery, D; Lipp, O; Mahieu, B; Van Broeckhoven, C; Blackwood, D; Muir, W; Aschauer, HN; Heiden, AM; Ackenheil, M; Fuchshuber, S; Raeymaekers, P; Verheyen, G; Kaneva, R; Jablensky, A; Papadimitriou, GN; Dikeos, DG; Stefanis, CN; Smeraldi, E; Mendlewicz, J
      Linkage of mood disorders with D2, D3 and TH genes: a multicenter study

      JOURNAL OF AFFECTIVE DISORDERS
    49. Blairy, S; Massat, I; Staner, L; Le Bon, O; Van Gestel, S; Van Broeckhoven, C; Hilger, C; Hentges, F; Souery, D; Mendlewicz, J
      5-HT2a receptor polymorphism gene in bipolar disorder and harm avoidance personality trait

      AMERICAN JOURNAL OF MEDICAL GENETICS
    50. DeLisi, LE; Craddock, NJ; Detera-Wadleigh, S; Foroud, T; Gejman, P; Kennedy, JL; Lendon, C; Macciardi, F; McKeon, P; Mynett-Johnson, L; Nurnberger, JI; Paterson, A; Schwab, S; Van Broeckhoven, C; Wildenauer, D; Crow, TJ
      Update on chromosomal locations for psychiatric disorders: Report of the Interim Meeting of Chromosome Workshop Chairpersons from the VIIth World Congress of Psychiatric Genetics, Monterey, California, October 14-18, 1999

      AMERICAN JOURNAL OF MEDICAL GENETICS
    51. Massat, I; Souery, D; Lipp, O; Blairy, S; Papadimitriou, G; Dikeos, D; Ackenheil, M; Fuchshuber, S; Hilger, C; Kaneva, R; Milanova, V; Verheyen, G; Raeymaekers, P; Staner, L; Oruc, L; Jakovljevic, M; Serretti, A; Macciardi, F; Van Broeckhoven, C; Mendlewicz, J
      A European multicenter association study of HTR2A receptor polymorphism inbipolar affective disorder

      AMERICAN JOURNAL OF MEDICAL GENETICS
    52. Leonardis, L; Zidar, J; Popovic, M; Timmerman, V; Lofgren, A; Van Broeckhoven, C; Butinar, D
      Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family

      PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
    53. Koster, MN; Dermaut, B; Cruts, M; Houwing-Duistermaat, JJ; Roks, G; Tol, J; Ott, A; Hofman, A; Munteanu, G; Breteler, MMB; van Duijn, CM; Van Broeckhoven, C
      The alpha 2-macroglobulin gene in AD - A population-based study and meta-analysis

      NEUROLOGY
    54. Harhangi, BS; de Rijk, MC; van Duijn, CM; Van Broeckhoven, C; Hofman, A; Breteler, MMB
      APOE and the risk of PD with or without dementia in a population-based study

      NEUROLOGY
    55. Wauters, M; Considine, R; Lofgren, A; Van Broeckhoven, C; Van der Auwera, JC; De Leeuw, I; Van Gaal, L
      Associations of leptin with body fat distribution and metabolic parametersin non-insulin-dependent diabetic patients: No effect of apolipoprotein E polymorphism

      METABOLISM-CLINICAL AND EXPERIMENTAL
    56. Van Goethem, G; Lofgren, A; Martin, JJ; Van Broeckhoven, C
      Further evidence for genetic heterogeneity of autosomal dominant disorderswith accumulation of multiple deletions of mitochondrial DNA

      JOURNAL OF MEDICAL GENETICS
    57. Roymans, D; Willems, R; Vissenberg, K; De Jonghe, C; Grobben, B; Claes, P; Lascu, I; Van Bockstaele, D; Verbelen, JP; Van Broeckhoven, C; Slegers, H
      Nucleoside diphosphate kinase beta (Nm23-R1/NDPK beta) is associated with intermediate filaments and becomes upregulated upon cAMP-induced differentiation of rat C6 glioma

      EXPERIMENTAL CELL RESEARCH
    58. 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
    59. Roks, G; Van Harskamp, F; De Koning, I; Cruts, M; De Jonghe, C; Kumar-Singh, S; Tibben, A; Tanghe, H; Niermeijer, MF; Hofman, A; Van Swieten, JC; Van Broeckhoven, C; Van Duijn, CM
      Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692)

      BRAIN
    60. Croes, EA; Dermaut, B; van der Cammen, TJM; van Broeckhoven, C; van Duijn, CM
      Genetic testing should not be advocated as a diagnostic tool in familial forms of dementia

      AMERICAN JOURNAL OF HUMAN GENETICS
    61. Van Gestel, S; Houwing-Duistermaat, JJ; Adolfsson, R; van Duijn, CM; Van Broeckhoven, C
      Power of selective genotyping in genetic association analyses of quantitative traits

      BEHAVIOR GENETICS
    62. Wang, SY; Cruts, M; Del-Favero, J; Zhang, Y; Tissir, F; Potier, MC; Patterson, D; Nizetic, D; Bosch, A; Chen, HM; Bennett, L; Estivill, X; Kessling, A; Antonarakis, SE; van Broeckhoven, C
      A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes

      GENOME RESEARCH
    63. Stronach, EA; Clark, C; Bell, C; Lofgren, A; McKay, NG; Timmerman, V; Van Broeckhoven, C; Haites, NE
      Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies

      JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
    64. Nelis, E; Haites, N; Van Broeckhoven, C
      Mutations in the peripheral myelin genes and associated genes in inheritedperipheral neuropathies

      HUMAN MUTATION
    65. Meuleman, J; Kuhlenbaumer, G; Schirmacher, A; Wehnert, M; De Jonghe, P; De Vriendt, E; Young, P; Airaksinen, E; Pou-Serradell, A; Prats, JM; Ringelstein, B; Stogbauer, F; Van Broeckhoven, C; Timmerman, V
      Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25

      EUROPEAN JOURNAL OF HUMAN GENETICS
    66. van Duijn, CM; Cruts, M; Theuns, J; Van Gassen, G; Backhovens, H; van den Broeck, M; Wehnert, A; Serneels, S; Hofman, A; Van Broeckhoven, C
      Genetic association of the presenilin-1 regulatory region with early-onsetAlzheimer's disease in a population-based sample

      EUROPEAN JOURNAL OF HUMAN GENETICS
    67. Verheyen, GR; Villafuerte, SM; Del-Favero, J; Souery, D; Mendlewicz, J; Van Broeckhoven, C; Raeymaekers, P
      Genetic refinement and physical mapping of a chromosome 18q candidate region for bipolar disorder

      EUROPEAN JOURNAL OF HUMAN GENETICS
    68. Van Gassen, G; De Jonghe, C; Pype, S; Van Criekinge, W; Julliams, A; Vanderhoeven, I; Woodrow, S; Beyaert, R; Huylebroeck, D; Van Broeckhoven, C
      Alzheimer's disease associated presenilin 1 interacts with HC5 and ZETA, subunits of the catalytic 20S proteasome

      NEUROBIOLOGY OF DISEASE
    69. De Jonghe, C; Cras, P; Vanderstichele, H; Cruts, M; Vanderhoeven, I; Smouts, I; Vanmechelen, E; Martin, JJ; Hendriks, L; Van Broeckhoven, C
      Evidence that A beta 42 plasma levels in presenilin-1 mutation carriers donot allow for prediction of their clinical phenotype

      NEUROBIOLOGY OF DISEASE
    70. 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
    71. Theuns, J; Cruts, M; Del-Favero, J; Goossens, D; Dauwerse, H; Wehnert, A; den Dunnen, JT; Van Broeckhoven, C
      Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA

      MAMMALIAN GENOME
    72. Kuhlenbaumer, G; Schirmacher, A; Meuleman, J; Tissir, F; Del-Favero, J; Stogbauer, F; Young, P; Ringelstein, B; Van Broeckhoven, C; Timmerman, V
      A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes

      GENOMICS
    73. Liehr, T; Kuhlenbaumer, G; Wulf, P; Taylor, V; Suter, U; Van Broeckhoven, C; Lupski, JR; Claussen, U; Rautenstrauss, B
      Regional localization of the human epithelial membrane protein genes 1, 2,and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3

      GENOMICS
    74. Del-Favero, J; Goossens, D; Van den Bossche, D; Van Broeckhoven, C
      YAC fragmentation with repetitive and single-copy sequences: detailed physical mapping of the presenilin 1 gene on chromosome 14

      GENE
    75. Michalik, A; Del-Favero, J; Mauger, C; Lofgren, A; Van Broeckhoven, C
      Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration

      HUMAN GENETICS
    76. Del-Favero, J; Goossens, D; De Jonghe, P; Benson, K; Michalik, A; Van den Bossche, D; Horwitz, M; Van Broeckhoven, C
      Isolation of CAG/CTG repeat from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPC4) by YAC fragmentation

      HUMAN GENETICS
    77. Slooter, AJC; Houwing-Duistermaat, JJ; van Harskamp, F; Cruts, M; Van Broeckhoven, C; Breteler, MMB; Hofman, A; Stijnen, T; van Duijn, CM
      Apolipoprotein E genotype and progression of Alzheimer's disease: the Rotterdam study

      JOURNAL OF NEUROLOGY
    78. Roks, G; Dermaut, B; Heutink, P; Julliams, A; Backhovens, H; Van de Broeck, M; Serneels, S; Hofman, A; Van Broeckhoven, C; van Duijn, CM; Cruts, M
      Mutation screening of the tau gene in patients with early-onset Alzheimer's disease

      NEUROSCIENCE LETTERS
    79. Vanderhoeven, I; Cras, P; Martin, JJ; Van Broeckhoven, C; De Jonghe, C
      Proteolytic processing of presenilin-1 in human lymphoblasts is not affected by the presence of the I143Tand G384A mutations

      NEUROSCIENCE LETTERS
    80. Julliams, A; Vanderhoeven, I; Kuhn, S; Van Broeckhoven, C; De Jonghe, C
      No influence of presenilin 1 I143Tand G384A mutations on endogenous tau phosphorylation in human and mouse neuroblastoma cells

      NEUROSCIENCE LETTERS
    81. Mauger, C; Del-Favero, J; Ceuterick, C; Lubke, U; van Broeckhoven, C; Martin, JJ
      Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody

      MOLECULAR BRAIN RESEARCH
    82. Souery, D; Lipp, O; Rivelli, SK; Massat, I; Serretti, A; Cavallini, C; Ackenheil, M; Adolfsson, R; Aschauer, H; Blackwood, D; Dam, H; Dikeos, D; Fuchshuber, S; Heiden, M; Jakovljevic, M; Kaneva, R; Kessing, L; Lerer, B; Lonnqvist, J; Mellerup, T; Milanova, V; Muir, W; Nylander, PO; Oruc, L; Papadimitriou, GN; Pekkarinen, P; Peltonen, L; Pull, C; Raeymaekers, P; Shapira, B; Smeraldi, E; Staner, L; Stefanis, C; Verga, M; Verheyen, G; Macciardi, F; Van Broeckhoven, C; Mendlewicz, J
      Tyrosine hydroxylase polymorphism and phenotypic heterogeneity in bipolar affective disorder: A multicenter association study

      AMERICAN JOURNAL OF MEDICAL GENETICS
    83. Craddock, N; Lendon, C; Cichon, S; Culverhouse, R; Detera-Wadleigh, S; Devon, R; Faraone, S; Foroud, T; Gejman, P; Leonard, S; McInnis, M; Owen, MJ; Riley, B; Armstrong, C; Barden, N; van Broeckhoven, C; Ewald, H; Folstein, S; Gerhard, D; Goldman, D; Gurling, H; Kelsoe, J; Levinson, D; Muir, W; Philippe, A; Pulver, A; Wildenauer, D
      Chromosome Workshop: Chromosomes 11, 14, and 15

      AMERICAN JOURNAL OF MEDICAL GENETICS
    84. Van Broeckhoven, C; Verheyen, G; Ewald, A; Gershon, ES; Hampson, RM; Kaneva, R; Kelsoe, JR; McMahon, FJ; Todd, R; Vorsanova, SG; Wildenauer, DB; Williams, NM
      Report of the Chromosome 18 Workshop

      AMERICAN JOURNAL OF MEDICAL GENETICS
    85. Slooter, AJC; Cruts, M; Ott, A; Bots, ML; Witteman, JCM; Hofman, A; Van Broeckhoven, C; Breteler, MMB; van Duijn, CM
      The effect of APOE on dementia is not through atherosclerosis: The Rotterdam Study

      NEUROLOGY
    86. Timmerman, V; De Jonghe, P; Ceuterick, C; De Vriendt, E; Lofgren, A; Nelis, E; Warner, LE; Lupski, JR; Martin, JJ; Van Broeckhoven, C
      Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

      NEUROLOGY
    87. Martin, JJ; Van Regemorter, N; Del-Favero, J; Lofgren, A; Van Broeckhoven, C
      Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    88. Slooter, AJC; Bronzova, J; Witteman, JCM; Van Broeckhoven, C; Hofman, A; van Duijn, CM
      Estrogen use and early onset Alzheimer's disease: a population-based study

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    89. Stogbauer, F; Young, P; Kuhlenbaumer, G; Kiefer, R; Timmerman, V; Ringelstein, EB; Wang, JF; Schroder, JM; Van Broeckhoven, C; Weis, J
      Autosomal dominant burning feet syndrome

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    90. Bahr, M; Andres, F; Timmerman, V; Nelis, ME; Van Broeckhoven, C; Dichgans, J
      Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin32 gene

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    91. van de Craen, M; de Jonghe, C; van den Brande, I; Declercq, W; van Gassen, G; van Criekinge, W; Vanderhoeven, I; Fiers, W; van Broeckhoven, C; Hendriks, L; Vandenabeele, P
      Identification of caspases that cleave presenilin-1 and presenilin-2 - Five presenilin-1 (PS1) mutations do not alter the sensitivity of PS1 to caspases

      FEBS LETTERS
    92. Martin, JJ; Martin, L; Lofgren, A; D'Hooghe, M; Storm, K; Balemans, W; Palau, F; Van Broeckhoven, C
      Classical Friedreich's ataxia and its genotype

      EUROPEAN NEUROLOGY
    93. De Jonghe, P; Timmerman, V; Ceuterick, C; Nelis, E; De Vriendt, E; Lofgren, A; Vercruyssen, A; Verellen, C; Van Maldergem, L; Martin, JJ; Van Broeckhoven, C
      The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene isassociated with a clinically distinct Charcot-Marie-Tooth phenotype

      BRAIN
    94. De Jonghe, P; Timmerman, V; Nelis, E; De Vriendt, E; Lofgren, A; Ceuterick, C; Martin, JJ; Van Broeckhoven, C
      A novel type of hereditary motor and sensory neuropathy characterized by amild phenotype

      ARCHIVES OF NEUROLOGY
    95. Dermaut, B; Cruts, M; Slooter, AJC; Van Gestel, S; De Jonghe, C; Vanderstichele, H; Vanmechelen, E; Breteler, MM; Hofman, A; van Duijn, CM; Van Broeckhoven, C
      The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease

      AMERICAN JOURNAL OF HUMAN GENETICS
    96. 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
    97. Dermaut, B; Cruts, M; Slooter, AJC; Van Gestel, S; De Jonghe, C; Backhovens, H; Vanderstichele, H; Vanmechelen, E; Breteler, MMB; Hofman, A; Hendriks, L; Van Duijn, CM; Van Broeckhoven, C
      Glu318Gly in presenilin-1 is a neutral mutation in relation to dementia: The Rotterdam study

      ALZHEIMER'S DISEASE AND RELATED DISORDERS
    98. Stevens, I; Van Osta, P; Geerts, H; Verheyen, G; Van Hauwaert, ML; Cras, P; Engelborghs, S; De Deyn, PP; Martin, JJ; Van Broeckhoven, C; Moens, L
      Processing of apolipoprotein E in cerebrospinal fluid of patients with Alzheimer's disease

      ALZHEIMERS REPORTS
    99. Van Broeckhoven, C
      Genetics of Alzheimer's disease: what have we learned?

      ALZHEIMERS REPORTS
    100. Delabar, J; Antonarakis, SE; Brahe, C; Estivill, X; Pritchard, M; Fisher, E; Kessling, A; Yaspo, ML; Nizetic, D; Bricarelli, D; Oliva, R; Petersen, MB; Potier, MC; Roizes, G; Van Broeckhoven, C; Sverdlov, E; Yurov, Y
      Construction of a high resolution map of chromosome 21 integrating genetic, physical, overlap and transcriptional data

      HUMAN GENOME ANALYSIS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/10/20 alle ore 15:30:20