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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
   
   C.G. Schuette et al., "Complete analysis of the glycosylation and disulfide bond pattern of humanbeta-hexosaminidase B by MALDI-MS", GLYCOBIOLOG, 11(7), 2001, pp. 549-556
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
   
   M. Gomez-Lira et al., "A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease", MOL CELL PR, 15(2), 2001, pp. 75-79
3. Salman, MS; Clarke, JTR; Midroni, G; Waxman, MB
   Peripheral and autonomic nervous system involvement in chronic GM2-gangliosidosis
   JOURNAL OF INHERITED METABOLIC DISEASE
   
   M.S. Salman et al., "Peripheral and autonomic nervous system involvement in chronic GM2-gangliosidosis", J INH MET D, 24(1), 2001, pp. 65-71
4. Mahuran, DJ; Gravel, RA
   The beta-hexosaminidase story in Toronto: From enzyme structure to gene mutation
   TAY-SACHS DISEASE
   
   D.J. Mahuran e R.A. Gravel, "The beta-hexosaminidase story in Toronto: From enzyme structure to gene mutation", ADV GENETIC, 44, 2001, pp. 145-163
5. Triggs-Raine, B; Mahuran, DJ; Gravel, RA
   Naturally occurring mutations in G(M2) gangliosidosis: A compendium
   TAY-SACHS DISEASE
   
   B. Triggs-Raine et al., "Naturally occurring mutations in G(M2) gangliosidosis: A compendium", ADV GENETIC, 44, 2001, pp. 199-224
6. Proia, RL
   Targeting the hexosaminidase genes: Mouse models of the G(M2) gangliosidoses
   TAY-SACHS DISEASE
   
   R.L. Proia, "Targeting the hexosaminidase genes: Mouse models of the G(M2) gangliosidoses", ADV GENETIC, 44, 2001, pp. 225-231
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
   
   R. Sharma et al., "Identification of the 6-sulfate binding site unique to alpha-subunit-containing isozymes of human beta-hexosaminidase", BIOCHEM, 40(18), 2001, pp. 5440-5446
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
   
   K. Furihata et al., "Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease", HUM MUTAT, 13(1), 1999, pp. 38-43
9. Mahuran, DJ
   Biochemical consequences of mutations causing the GM2 gangliosidoses
   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
   
   D.J. Mahuran, "Biochemical consequences of mutations causing the GM2 gangliosidoses", BBA-MOL BAS, 1455(2-3), 1999, pp. 105-138
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
    
    H.I. Adamali et al., "I. Abnormalities in cells of the testis, efferent ducts, and epididymis injuvenile and adult mice with beta-hexosaminidase A and B deficiency", J ANDROLOGY, 20(6), 1999, pp. 779-802
11. Zwierz, K; Zalewska, A; Zoch-Zwierz, W
    Isoenzymes of N-acetyl-beta-hexosaminidase
    ACTA BIOCHIMICA POLONICA
    
    K. Zwierz et al., "Isoenzymes of N-acetyl-beta-hexosaminidase", ACT BIOCH P, 46(3), 1999, pp. 739-751
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
    
    F.E. Kleiman et al., "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, 12(5), 1998, pp. 320-329
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
    
    I. Redonnetvernhet et al., "A619-]G SUBSTITUTION IN THE HEXB GENE IS NOT A DELETERIOUS MUTATION, BUT A FREQUENT POLYMORPHISM", Human mutation, 1998, pp. 329-330
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
    
    G. Narkis et al., "MOLECULAR-BASIS OF HEAT-LABILE HEXOSAMINIDASE-B AMONG JEWS AND ARABS", Human mutation, 10(6), 1997, pp. 424-429
15. TIFFT CJ; PROIA RL
    THE BETA-HEXOSAMINIDASE DEFICIENCY DISORDERS - DEVELOPMENT OF A CLINICAL PARADIGM IN THE MOUSE
    Annals of medicine
    
    C.J. Tifft e R.L. Proia, "THE BETA-HEXOSAMINIDASE DEFICIENCY DISORDERS - DEVELOPMENT OF A CLINICAL PARADIGM IN THE MOUSE", Annals of medicine, 29(6), 1997, pp. 557-561
16. OZKARA HA; TOPCU M; RENDA Y
    SANDHOFF DISEASE IN THE TURKISH POPULATION
    Brain & development
    
    H.A. Ozkara et al., "SANDHOFF DISEASE IN THE TURKISH POPULATION", Brain & development, 19(7), 1997, pp. 469-472
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
    
    H. Sakuraba et al., "IMMUNOCYTOCHEMICAL DETECTION OF ACCUMULATED SUBSTRATES IN CULTURED FIBROBLASTS FROM PATIENTS WITH THE INFANTILE AND ADULT FORMS OF SANDHOFF-DISEASE", Clinica chimica acta, 265(2), 1997, pp. 263-266
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
    
    H. Ozawa et al., "GENERATION AND CHARACTERIZATION OF MOUSE MONOCLONAL-ANTIBODIES SPECIFIC FOR N-LINKED NEUTRAL OLIGOSACCHARIDES OF GLYCOPROTEINS", Archives of biochemistry and biophysics, 342(1), 1997, pp. 48-57
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
    
    I. Redonnetvernhet et al., "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, 1317(2), 1996, pp. 127-133
20. HOU YM; TSE R; MAHURAN DJ
    DIRECT DETERMINATION OF THE SUBSTRATE-SPECIFICITY OF THE ALPHA-ACTIVESITE IN HETERODIMERIC BETA-HEXOSAMINIDASE-A
    Biochemistry
    
    Y.M. Hou et al., "DIRECT DETERMINATION OF THE SUBSTRATE-SPECIFICITY OF THE ALPHA-ACTIVESITE IN HETERODIMERIC BETA-HEXOSAMINIDASE-A", Biochemistry, 35(13), 1996, pp. 3963-3969
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
    
    T. Levade et al., "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, 154(8), 1995, pp. 643-648
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
    
    R.G.G. Leenders et al., "EXTRACTION AND PURIFICATION OF GANGLIOSIDES FROM PLASMA AND FIBROBLASTS BEFORE ANALYSIS BY THIN-LAYER CHROMATOGRAPHY", Annals of clinical biochemistry, 32, 1995, pp. 68-73
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
    
    A. Novak et al., "CLASSIFICATION OF DISORDERS OF G(M2) GANGLIOSIDE HYDROLYSIS USING H-3G(M2) AS SUBSTRATE", Biochimica et biophysica acta (G). General subjects, 1199(2), 1994, pp. 215-223
24. SUZUKI K
    SAUL-R-KOREY-LECTURE - MOLECULAR-GENETICS OF TAY-SACHS AND RELATED DISORDERS - A PERSONAL ACCOUNT
    Journal of neuropathology and experimental neurology
    
    K. Suzuki, "SAUL-R-KOREY-LECTURE - MOLECULAR-GENETICS OF TAY-SACHS AND RELATED DISORDERS - A PERSONAL ACCOUNT", Journal of neuropathology and experimental neurology, 53(4), 1994, pp. 344-350
25. CALISKAN M; OZMEN M; BECK M; APAK S
    THALAMIC HYPERDENSITY - IS IT A DIAGNOSTIC MARKER FOR SANDHOFF DISEASE
    Brain & development
    
    M. Caliskan et al., "THALAMIC HYPERDENSITY - IS IT A DIAGNOSTIC MARKER FOR SANDHOFF DISEASE", Brain & development, 15(5), 1993, pp. 387-388
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
    
    E.M. Prence et al., "UNUSUAL THERMOLABILITY PROPERTIES OF LEUKOCYTE BETA-HEXOSAMINIDASE - IMPLICATIONS IN SCREENING FOR CARRIERS OF TAY-SACHS-DISEASE", Clinical chemistry, 39(9), 1993, pp. 1811-1814
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
    
    A. Isaksson et al., "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, 39(7), 1993, pp. 1412-1415
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
    
    P.A. Bolhuis et al., "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, 1182(2), 1993, pp. 142-146