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La ricerca find articoli where soggetti phrase all words 'SANDHOFF DISEASE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 28 riferimenti
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    1. Schuette, CG; Weisgerber, J; Sandhoff, K
      Complete analysis of the glycosylation and disulfide bond pattern of humanbeta-hexosaminidase B by MALDI-MS

      GLYCOBIOLOGY
    2. 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
    3. Salman, MS; Clarke, JTR; Midroni, G; Waxman, MB
      Peripheral and autonomic nervous system involvement in chronic GM2-gangliosidosis

      JOURNAL OF INHERITED METABOLIC DISEASE
    4. Mahuran, DJ; Gravel, RA
      The beta-hexosaminidase story in Toronto: From enzyme structure to gene mutation

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

      TAY-SACHS DISEASE
    6. Proia, RL
      Targeting the hexosaminidase genes: Mouse models of the G(M2) gangliosidoses

      TAY-SACHS DISEASE
    7. Sharma, R; Deng, HN; Leung, A; Mahuran, D
      Identification of the 6-sulfate binding site unique to alpha-subunit-containing isozymes of human beta-hexosaminidase

      BIOCHEMISTRY
    8. 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
    9. Mahuran, DJ
      Biochemical consequences of mutations causing the GM2 gangliosidoses

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    10. Adamali, HI; Somani, IH; Huang, JQ; Mahuran, D; Gravel, RA; Trasler, JM; Hermo, L
      I. Abnormalities in cells of the testis, efferent ducts, and epididymis injuvenile and adult mice with beta-hexosaminidase A and B deficiency

      JOURNAL OF ANDROLOGY
    11. Zwierz, K; Zalewska, A; Zoch-Zwierz, W
      Isoenzymes of N-acetyl-beta-hexosaminidase

      ACTA BIOCHIMICA POLONICA
    12. 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
    13. REDONNETVERNHET I; CHATELUT M; BUSCAIL L; MAHURAN DJ; SALVAYRE R; LEVADE T
      A619-]G SUBSTITUTION IN THE HEXB GENE IS NOT A DELETERIOUS MUTATION, BUT A FREQUENT POLYMORPHISM

      Human mutation
    14. 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
    15. TIFFT CJ; PROIA RL
      THE BETA-HEXOSAMINIDASE DEFICIENCY DISORDERS - DEVELOPMENT OF A CLINICAL PARADIGM IN THE MOUSE

      Annals of medicine
    16. OZKARA HA; TOPCU M; RENDA Y
      SANDHOFF DISEASE IN THE TURKISH POPULATION

      Brain & development
    17. SAKURABA H; ITOH K; KUROKI Y; KASE R; SHIMMOTO M; UTSUMI K; OZAWA H; TAI T; HARA A; UYAMA E
      IMMUNOCYTOCHEMICAL DETECTION OF ACCUMULATED SUBSTRATES IN CULTURED FIBROBLASTS FROM PATIENTS WITH THE INFANTILE AND ADULT FORMS OF SANDHOFF-DISEASE

      Clinica chimica acta
    18. OZAWA H; YAMASHITA K; SAKURABA H; ITOH K; KASE R; TAI T
      GENERATION AND CHARACTERIZATION OF MOUSE MONOCLONAL-ANTIBODIES SPECIFIC FOR N-LINKED NEUTRAL OLIGOSACCHARIDES OF GLYCOPROTEINS

      Archives of biochemistry and biophysics
    19. 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
    20. HOU YM; TSE R; MAHURAN DJ
      DIRECT DETERMINATION OF THE SUBSTRATE-SPECIFICITY OF THE ALPHA-ACTIVESITE IN HETERODIMERIC BETA-HEXOSAMINIDASE-A

      Biochemistry
    21. LEVADE T; ENDERS H; SCHLIEPHACKE M; HARZER K
      FAMILY WITH COMBINED FARBER AND SANDHOFF, ISOLATED SANDHOFF AND ISOLATED FETAL FARBER-DISEASE - POSTNATAL EXCLUSION AND PRENATAL-DIAGNOSIS OF FARBER-DISEASE USING LIPID LOADING TESTS ON INTACT CULTURED-CELLS

      European journal of pediatrics
    22. LEENDERS RGG; DEJONG JGN; WEVERS RA
      EXTRACTION AND PURIFICATION OF GANGLIOSIDES FROM PLASMA AND FIBROBLASTS BEFORE ANALYSIS BY THIN-LAYER CHROMATOGRAPHY

      Annals of clinical biochemistry
    23. NOVAK A; CALLAHAN JW; LOWDEN JA
      CLASSIFICATION OF DISORDERS OF G(M2) GANGLIOSIDE HYDROLYSIS USING H-3G(M2) AS SUBSTRATE

      Biochimica et biophysica acta (G). General subjects
    24. SUZUKI K
      SAUL-R-KOREY-LECTURE - MOLECULAR-GENETICS OF TAY-SACHS AND RELATED DISORDERS - A PERSONAL ACCOUNT

      Journal of neuropathology and experimental neurology
    25. CALISKAN M; OZMEN M; BECK M; APAK S
      THALAMIC HYPERDENSITY - IS IT A DIAGNOSTIC MARKER FOR SANDHOFF DISEASE

      Brain & development
    26. PRENCE EM; NATOWICZ MR; ZALEWSKI I
      UNUSUAL THERMOLABILITY PROPERTIES OF LEUKOCYTE BETA-HEXOSAMINIDASE - IMPLICATIONS IN SCREENING FOR CARRIERS OF TAY-SACHS-DISEASE

      Clinical chemistry
    27. ISAKSSON A; HULTBERG B; MASSON P; LANDELS E; FENSOM A
      ENZYME-IMMUNOASSAY OF BETA-HEXOSAMINIDASE-A AND BETA-HEXOSAMINIDASE-BIN SERUM - CARRIER DETECTION OF GM(2)-GANGLIOSIDOSES, AND EQUIVALENCEOF ENZYME-ACTIVITY AND ENZYME PROTEIN REACTIVITY

      Clinical chemistry
    28. BOLHUIS PA; PONNE NJ; BIKKER H; BAAS F; DEJONG JMBV
      MOLECULAR-BASIS OF AN ADULT FORM OF SANDHOFF DISEASE - SUBSTITUTION OF GLUTAMINE FOR ARGININE AT POSITION 505 OF THE BETA-CHAIN OF BETA-HEXOSAMINIDASE RESULTS IN A LABILE ENZYME

      Biochimica et biophysica acta


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/01/21 alle ore 05:25:17