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La ricerca find articoli where soggetti phrase all words 'HUMAN BETA-HEXOSAMINIDASE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 26 riferimenti
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    1. Gomez-Lira, M; Mottes, M; Perusi, C; Pignatti, PF; Rizzuto, N; Gatti, R; Salviati, A
      A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease

      MOLECULAR AND CELLULAR PROBES
    2. Rajavel, KS; Neufeld, EF
      Nonsense-mediated decay of human HEXA mRNA

      MOLECULAR AND CELLULAR BIOLOGY
    3. Myerowitz, R
      The search for the genetic lesion in Ashkenazi Jews with classic Tay-Sachsdisease

      TAY-SACHS DISEASE
    4. Triggs-Raine, B; Mahuran, DJ; Gravel, RA
      Naturally occurring mutations in G(M2) gangliosidosis: A compendium

      TAY-SACHS DISEASE
    5. Drousiotou, A; Stylianidou, G; Anastasiadou, V; Christopoulos, G; Mavrikiou, E; Georgiou, T; Kalakoutis, G; Oladimeji, A; Hara, Y; Suzuki, K; Furihata, K; Ueno, I; Ioannou, PA; Fensom, AH
      Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

      HUMAN GENETICS
    6. Kolter, T; Sandhoff, K
      Sphingolipids - Their metabolic pathways and the pathobiochemistry of neurodegenerative diseases

      ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
    7. Furihata, K; Drousiotou, A; Hara, Y; Christopoulos, G; Stylianidou, G; Anastasiadou, V; Ueno, I; Ioannou, P
      Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease

      HUMAN MUTATION
    8. Mahuran, DJ
      Biochemical consequences of mutations causing the GM2 gangliosidoses

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    9. KLEIMAN FE; RAMIREZ AO; AKERMAN B; DEKREMER RD; GRAVEL RA; ARGARANA CE
      A FREQUENT TG DELETION NEAR THE POLYADENYLATION SIGNAL OF THE HUMAN HEXB GENE - OCCURRENCE OF AN IRREGULAR DNA-STRUCTURE AND CONSERVED NUCLEOTIDE-SEQUENCE MOTIF IN THE 3'-UNTRANSLATED REGION

      Human mutation
    10. GOMEZLIRA M; PERUSI C; MOTTES M; PIGNATTI PF; RIZZUTO N; GATTI R; SALVIATI A
      SPLICING MUTATION CAUSES INFANTILE SANDHOFF-DISEASE

      American journal of medical genetics
    11. NARKIS G; ADAM A; JABER L; PENNYBACKER M; PROIA RL; NAVON R
      MOLECULAR-BASIS OF HEAT-LABILE HEXOSAMINIDASE-B AMONG JEWS AND ARABS

      Human mutation
    12. POMPONIO RJ; REYNOLDS TR; MANDEL H; ADMONI O; MELONE PD; BUCK GA; WOLF B
      PROFOUND BIOTINIDASE DEFICIENCY CAUSED BY A POINT MUTATION THAT CREATES A DOWNSTREAM CRYPTIC 3'-SPLICE ACCEPTOR SITE WITHIN AN EXON OF THE HUMAN BIOTINIDASE GENE

      Human molecular genetics
    13. AKLI S; GUIDOTTI JE; VIGNE E; PERRICAUDET M; SANDHOFF K; KAHN A; POENARU L
      RESTORATION OF HEXOSAMINIDASE-A ACTIVITY IN HUMAN TAY-SACHS FIBROBLASTS VIA ADENOVIRAL VECTOR-MEDIATED GENE-TRANSFER

      Gene therapy
    14. REDONNETVERNHET I; MAHURAN DJ; SALVAYRE R; DUBAS F; LEVADE T
      SIGNIFICANCE OF 2 POINT MUTATIONS PRESENT IN EACH HEXB ALLELE OF PATIENTS WITH ADULT G(M2) GANGLIOSIDOSIS (SANDHOFF DISEASE) - HOMOZYGOSITYFOR THE ILE(207)-]VAL SUBSTITUTION IS NOT ASSOCIATED WITH A CLINICAL OR BIOCHEMICAL PHENOTYPE

      Biochimica et biophysica acta. Molecular basis of disease
    15. DEGASPERI R; SOSA MAG; BATTISTINI S; YERETSIAN J; RAGHAVAN S; ZELNIK N; LESHINSKY E; KOLODNY EH
      LATE-ONSET G(M2) GANGLIOSIDOSIS - ASHKENAZI JEWISH FAMILY WITH AN EXON-5 MUTATION (TYR(180)-]HIS) IN THE HEX-A ALPHA-CHAIN GENE

      Neurology
    16. OZKARA HA; AKERMAN BR; CILIV G; TOPCU M; RENDA Y; GRAVEL RA
      DONOR SPLICE-SITE MUTATION IN INTRON-5 OF THE HEXA GENE IN A TURKISH INFANT WITH TAY-SACHS-DISEASE

      Human mutation
    17. ZHANG ZX; WAKAMATSU N; AKERMAN BR; MULES EH; THOMAS GH; GRAVEL RA
      A 2ND, LARGE DELETION IN THE HEXB GENE IN A PATIENT WITH INFANTILE SANDHOFF-DISEASE

      Human molecular genetics
    18. GIESELMANN V
      LYSOSOMAL STORAGE DISEASES

      Biochimica et biophysica acta. Molecular basis of disease
    19. BOLES DJ; PROIA RL
      THE MOLECULAR-BASIS OF HUXA MESSENGER-RNA DEFICIENCY CAUSED BY THE MOST COMMON TAY-SACHS-DISEASE MUTATION

      American journal of human genetics
    20. BIANCONI S; BECCARI T; STIRLING JL; SHEARDOWN S; ORLACCHIO A
      ORGANIZATION OF THE GENE FOR THE ALPHA-SUBUNIT OF MOUSE BETA-N-ACETYLHEXOSAMINIDASE (HEXA)

      Biochemistry and molecular biology international
    21. ZHANG ZX; WAKAMATSU N; MULES EH; THOMAS GH; GRAVEL RA
      IMPACT OF PREMATURE STOP CODONS ON MESSENGER-RNA LEVELS IN INFANTILE SANDHOFF DISEASE

      Human molecular genetics
    22. KLEIMAN FE; DEKREMER RD; DERAMIREZ AO; GRAVEL RA; ARGARANA CE
      SANDHOFF DISEASE IN ARGENTINA - HIGH-FREQUENCY OF A SPLICE-SITE MUTATION IN THE HEXB GENE AND CORRELATION BETWEEN ENZYME AND DNA-BASED TESTS FOR HETEROZYGOTE DETECTION

      Human genetics
    23. HARA Y; IOANNOU P; DROUSIOTOU A; STYLIANIDOU G; ANASTASIADOU V; SUZUKI K
      MUTATION ANALYSIS OF A SANDHOFF DISEASE PATIENT IN THE MARONITE COMMUNITY IN CYPRUS

      Human genetics
    24. HECHTMAN P; KAPLAN F
      TAY-SACHS-DISEASE SCREENING AND DIAGNOSIS - EVOLVING TECHNOLOGIES

      DNA and cell biology
    25. ROBINSON A
      SICKLE-CELL DISEASE, THE THALASSEMIAS, TAY-SACHS DISEASE - PROTEIN TOGENE

      CMAJ. Canadian Medical Association journal
    26. BENNINGER C; ULLRICHBOTT B; ZHAN SS; SCHMITT HP
      G(M2D) GANGLIOSIDOSIS-B(1) VARIANT IN A BOY OF GERMAN HUNGARIAN DESCENT

      Clinical neuropathology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/01/21 alle ore 03:48:23