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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
   
   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
2. Rajavel, KS; Neufeld, EF
   Nonsense-mediated decay of human HEXA mRNA
   MOLECULAR AND CELLULAR BIOLOGY
   
   K.S. Rajavel e E.F. Neufeld, "Nonsense-mediated decay of human HEXA mRNA", MOL CELL B, 21(16), 2001, pp. 5512-5519
3. Myerowitz, R
   The search for the genetic lesion in Ashkenazi Jews with classic Tay-Sachsdisease
   TAY-SACHS DISEASE
   
   R. Myerowitz, "The search for the genetic lesion in Ashkenazi Jews with classic Tay-Sachsdisease", ADV GENETIC, 44, 2001, pp. 137-143
4. 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
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
   
   A. Drousiotou et al., "Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community", HUM GENET, 107(1), 2000, pp. 12-17
6. Kolter, T; Sandhoff, K
   Sphingolipids - Their metabolic pathways and the pathobiochemistry of neurodegenerative diseases
   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
   
   T. Kolter e K. Sandhoff, "Sphingolipids - Their metabolic pathways and the pathobiochemistry of neurodegenerative diseases", ANGEW CHEM, 38(11), 1999, pp. 1532-1568
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
   
   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
8. 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
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
   
   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
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
    
    M. Gomezlira et al., "SPLICING MUTATION CAUSES INFANTILE SANDHOFF-DISEASE", American journal of medical genetics, 75(3), 1998, pp. 330-333
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
    
    G. Narkis et al., "MOLECULAR-BASIS OF HEAT-LABILE HEXOSAMINIDASE-B AMONG JEWS AND ARABS", Human mutation, 10(6), 1997, pp. 424-429
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
    
    R.J. Pomponio et al., "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, 6(5), 1997, pp. 739-745
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
    
    S. Akli et al., "RESTORATION OF HEXOSAMINIDASE-A ACTIVITY IN HUMAN TAY-SACHS FIBROBLASTS VIA ADENOVIRAL VECTOR-MEDIATED GENE-TRANSFER", Gene therapy, 3(9), 1996, pp. 769-774
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
    
    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
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
    
    R. Degasperi et al., "LATE-ONSET G(M2) GANGLIOSIDOSIS - ASHKENAZI JEWISH FAMILY WITH AN EXON-5 MUTATION (TYR(180)-]HIS) IN THE HEX-A ALPHA-CHAIN GENE", Neurology, 47(2), 1996, pp. 547-552
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
    
    H.A. Ozkara et al., "DONOR SPLICE-SITE MUTATION IN INTRON-5 OF THE HEXA GENE IN A TURKISH INFANT WITH TAY-SACHS-DISEASE", Human mutation, 5(2), 1995, pp. 186-187
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
    
    Z.X. Zhang et al., "A 2ND, LARGE DELETION IN THE HEXB GENE IN A PATIENT WITH INFANTILE SANDHOFF-DISEASE", Human molecular genetics, 4(4), 1995, pp. 777-780
18. GIESELMANN V
    LYSOSOMAL STORAGE DISEASES
    Biochimica et biophysica acta. Molecular basis of disease
    
    V. Gieselmann, "LYSOSOMAL STORAGE DISEASES", Biochimica et biophysica acta. Molecular basis of disease, 1270(2-3), 1995, pp. 103-136
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
    
    D.J. Boles e R.L. Proia, "THE MOLECULAR-BASIS OF HUXA MESSENGER-RNA DEFICIENCY CAUSED BY THE MOST COMMON TAY-SACHS-DISEASE MUTATION", American journal of human genetics, 56(3), 1995, pp. 716-724
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
    
    S. Bianconi et al., "ORGANIZATION OF THE GENE FOR THE ALPHA-SUBUNIT OF MOUSE BETA-N-ACETYLHEXOSAMINIDASE (HEXA)", Biochemistry and molecular biology international, 34(3), 1994, pp. 579-586
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
    
    Z.X. Zhang et al., "IMPACT OF PREMATURE STOP CODONS ON MESSENGER-RNA LEVELS IN INFANTILE SANDHOFF DISEASE", Human molecular genetics, 3(1), 1994, pp. 139-145
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
    
    F.E. Kleiman et al., "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, 94(3), 1994, pp. 279-282
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
    
    Y. Hara et al., "MUTATION ANALYSIS OF A SANDHOFF DISEASE PATIENT IN THE MARONITE COMMUNITY IN CYPRUS", Human genetics, 94(2), 1994, pp. 136-140
24. HECHTMAN P; KAPLAN F
    TAY-SACHS-DISEASE SCREENING AND DIAGNOSIS - EVOLVING TECHNOLOGIES
    DNA and cell biology
    
    P. Hechtman e F. Kaplan, "TAY-SACHS-DISEASE SCREENING AND DIAGNOSIS - EVOLVING TECHNOLOGIES", DNA and cell biology, 12(8), 1993, pp. 651-665
25. ROBINSON A
    SICKLE-CELL DISEASE, THE THALASSEMIAS, TAY-SACHS DISEASE - PROTEIN TOGENE
    CMAJ. Canadian Medical Association journal
    
    A. Robinson, "SICKLE-CELL DISEASE, THE THALASSEMIAS, TAY-SACHS DISEASE - PROTEIN TOGENE", CMAJ. Canadian Medical Association journal, 148(9), 1993, pp. 1481-1485
26. BENNINGER C; ULLRICHBOTT B; ZHAN SS; SCHMITT HP
    G(M2D) GANGLIOSIDOSIS-B(1) VARIANT IN A BOY OF GERMAN HUNGARIAN DESCENT
    Clinical neuropathology
    
    C. Benninger et al., "G(M2D) GANGLIOSIDOSIS-B(1) VARIANT IN A BOY OF GERMAN HUNGARIAN DESCENT", Clinical neuropathology, 12(4), 1993, pp. 196-200