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1. Proia, RL
   Cloning the beta-hexosaminidase genes
   TAY-SACHS DISEASE
   
   R.L. Proia, "Cloning the beta-hexosaminidase genes", ADV GENETIC, 44, 2001, pp. 127-135
2. 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
3. Kawai, H; Allende, ML; Wada, R; Kono, M; Sango, K; Deng, CX; Miyakawa, T; Crawley, JN; Werth, N; Bierfreund, U; Sandhoff, K; Proia, RL
   Mice expressing only monosialoganglioside GM3 exhibit lethal audiogenic seizures
   JOURNAL OF BIOLOGICAL CHEMISTRY
   
   H. Kawai et al., "Mice expressing only monosialoganglioside GM3 exhibit lethal audiogenic seizures", J BIOL CHEM, 276(10), 2001, pp. 6885-6888
4. Jeyakumar, M; Norflus, F; Tifft, CJ; Cortina-Borja, M; Butters, TD; Proia, RL; Perry, VH; Dwek, RA; Platt, FM
   Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation
   BLOOD
   
   M. Jeyakumar et al., "Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation", BLOOD, 97(1), 2001, pp. 327-329
5. Liu, YJ; Wu, YP; Wada, R; Neufeld, EB; Mullin, KA; Howard, AC; Pentchev, PG; Vanier, MT; Suzuki, K; Proia, RL
   Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse
   HUMAN MOLECULAR GENETICS
   
   Y.J. Liu et al., "Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse", HUM MOL GEN, 9(7), 2000, pp. 1087-1092
6. Tifft, CJ; Proia, RL
   Stemming the tide: glycosphingolipid synthesis inhibitors as therapy for storage diseases
   GLYCOBIOLOGY
   
   C.J. Tifft e R.L. Proia, "Stemming the tide: glycosphingolipid synthesis inhibitors as therapy for storage diseases", GLYCOBIOLOG, 10(12), 2000, pp. 1249-1258
7. Potratz, A; Huttler, S; Bierfreund, U; Proia, RL; Suzuki, K; Sandhoff, K
   Quantification of mRNAs encoding proteins of the glycosphingolipid catabolism in mouse models of GM2 gangliosidoses and sphingolipid activator protein precursor (prosaposin) deficiency
   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
   
   A. Potratz et al., "Quantification of mRNAs encoding proteins of the glycosphingolipid catabolism in mouse models of GM2 gangliosidoses and sphingolipid activator protein precursor (prosaposin) deficiency", BBA-MOL BAS, 1502(3), 2000, pp. 391-397
8. Wada, R; Tifft, CJ; Proia, RL
   Microglial activation precedes acute neurodegeneration in Sandhoff diseaseand is suppressed by bone marrow transplantation
   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
   
   R. Wada et al., "Microglial activation precedes acute neurodegeneration in Sandhoff diseaseand is suppressed by bone marrow transplantation", P NAS US, 97(20), 2000, pp. 10954-10959
9. Liu, YJ; Wada, R; Yamashita, T; Mi, YD; Deng, CX; Hobson, JP; Rosenfeldt, HM; Nava, VE; Chae, SS; Lee, MJ; Liu, CH; Hla, T; Spiegel, S; Proia, RL
   Edg-1, the G protein-coupled receptor for sphingosine-1-phosphate, is essential for vascular maturation
   JOURNAL OF CLINICAL INVESTIGATION
   
   Y.J. Liu et al., "Edg-1, the G protein-coupled receptor for sphingosine-1-phosphate, is essential for vascular maturation", J CLIN INV, 106(8), 2000, pp. 951-961
10. Oya, Y; Proia, RL; Norflus, F; Tifft, CJ; Langaman, C; Suzuki, K
    Distribution of enzyme-bearing cells in GM(2) gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation
    ACTA NEUROPATHOLOGICA
    
    Y. Oya et al., "Distribution of enzyme-bearing cells in GM(2) gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation", ACT NEUROP, 99(2), 2000, pp. 161-168
11. Yamashita, T; Wada, R; Sasaki, T; Deng, CX; Bierfreund, U; Sandhoff, K; Proia, RL
    A vital role for glycosphingolipid synthesis during development and differentiation
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    
    T. Yamashita et al., "A vital role for glycosphingolipid synthesis during development and differentiation", P NAS US, 96(16), 1999, pp. 9142-9147
12. Sheikh, KA; Sun, J; Liu, YJ; Kawai, H; Crawford, TO; Proia, RL; Griffin, JW; Schnaar, RL
    Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    
    K.A. Sheikh et al., "Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects", P NAS US, 96(13), 1999, pp. 7532-7537
13. Jeyakumar, M; Butters, TD; Cortina-Borja, M; Hunnam, V; Proia, RL; Perry, VH; Dwek, RA; Platt, FM
    Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    
    M. Jeyakumar et al., "Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin", P NAS US, 96(11), 1999, pp. 6388-6393
14. Liu, YJ; Wada, R; Kawai, H; Sango, K; Deng, CX; Tai, T; McDonald, MP; Araujo, K; Crawley, JN; Bierfreund, U; Sandhoff, K; Suzuki, K; Proia, RL
    A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder
    JOURNAL OF CLINICAL INVESTIGATION
    
    Y.J. Liu et al., "A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder", J CLIN INV, 103(4), 1999, pp. 497-505
15. Doering, T; Proia, RL; Sandhoff, K
    Accumulation of protein-bound epidermal glucosylceramides in beta-glucocerebrosidase deficient type 2 Gaucher mice
    FEBS LETTERS
    
    T. Doering et al., "Accumulation of protein-bound epidermal glucosylceramides in beta-glucocerebrosidase deficient type 2 Gaucher mice", FEBS LETTER, 447(2-3), 1999, pp. 167-170
16. SUZUKI K; PROIA RL; SUZUKI K
    MOUSE MODELS OF HUMAN LYSOSOMAL DISEASES
    Brain pathology
    
    K. Suzuki et al., "MOUSE MODELS OF HUMAN LYSOSOMAL DISEASES", Brain pathology, 8(1), 1998, pp. 195-215
17. LIU YJ; SUZUKI K; REED JD; GRINBERG A; WESTPHAL H; HOFFMANN A; DORING T; SANDHOFF K; PROIA RL
    MICE WITH TYPE-2 AND TYPE-3 GAUCHER-DISEASE POINT MUTATIONS GENERATEDBY A SINGLE INSERTION MUTAGENESIS PROCEDURE (SIMP)
    Proceedings of the National Academy of Sciences of the United Statesof America
    
    Y.J. Liu et al., "MICE WITH TYPE-2 AND TYPE-3 GAUCHER-DISEASE POINT MUTATIONS GENERATEDBY A SINGLE INSERTION MUTAGENESIS PROCEDURE (SIMP)", Proceedings of the National Academy of Sciences of the United Statesof America, 95(5), 1998, pp. 2503-2508
18. NORFLUS F; TIFFT CJ; MCDONALD MP; GOLDSTEIN G; CRAWLEY JN; HOFFMANN A; SANDHOFF K; SUZUKI K; PROIA RL
    BONE-MARROW TRANSPLANTATION PROLONGS LIFE-SPAN AND AMELIORATES NEUROLOGIC MANIFESTATIONS IN SANDHOFF DISEASE MICE
    The Journal of clinical investigation
    
    F. Norflus et al., "BONE-MARROW TRANSPLANTATION PROLONGS LIFE-SPAN AND AMELIORATES NEUROLOGIC MANIFESTATIONS IN SANDHOFF DISEASE MICE", The Journal of clinical investigation, 101(9), 1998, pp. 1881-1888
19. KAWAI H; SANGO K; MULLIN KA; PROIA RL
    EMBRYONIC STEM-CELLS WITH A DISRUPTED GD3 SYNTHASE GENE UNDERGO NEURONAL DIFFERENTIATION IN THE ABSENCE OF B-SERIES GANGLIOSIDES
    The Journal of biological chemistry
    
    H. Kawai et al., "EMBRYONIC STEM-CELLS WITH A DISRUPTED GD3 SYNTHASE GENE UNDERGO NEURONAL DIFFERENTIATION IN THE ABSENCE OF B-SERIES GANGLIOSIDES", The Journal of biological chemistry, 273(31), 1998, pp. 19634-19638
20. DRUCKER L; GOLAN A; BOLES DJ; ELBEDOUR K; PROIA RL; NAVON R
    NOVEL HEXA MUTATION IN A BEDOUIN TAY-SACHS PATIENT ASSOCIATED WITH EXON SKIPPING AND REDUCED TRANSCRIPT LEVEL
    Human mutation
    
    L. Drucker et al., "NOVEL HEXA MUTATION IN A BEDOUIN TAY-SACHS PATIENT ASSOCIATED WITH EXON SKIPPING AND REDUCED TRANSCRIPT LEVEL", Human mutation, 9(3), 1997, pp. 260-264
21. 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
22. 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
23. PLATT FM; NEISES GR; REINKENSMEIER G; TOWNSEND MJ; PERRY VH; PROIA RL; WINCHESTER B; DWEK RA; BUTTERS TD
    PREVENTION OF LYSOSOMAL STORAGE IN TAY-SACHS MICE TREATED WITH N-BUTYLDEOXYNOJIRIMYCIN
    Science
    
    F.M. Platt et al., "PREVENTION OF LYSOSOMAL STORAGE IN TAY-SACHS MICE TREATED WITH N-BUTYLDEOXYNOJIRIMYCIN", Science, 276(5311), 1997, pp. 428-431
24. LIU YJ; HOFFMANN A; GRINBERG A; WESTPHAL H; MCDONALD MP; MILLER KM; CRAWLEY JN; SANDHOFF K; SUZUKI K; PROIA RL
    MOUSE MODEL OF G(M2) ACTIVATOR DEFICIENCY MANIFESTS CEREBELLAR PATHOLOGY AND MOTOR IMPAIRMENT
    Proceedings of the National Academy of Sciences of the United Statesof America
    
    Y.J. Liu et al., "MOUSE MODEL OF G(M2) ACTIVATOR DEFICIENCY MANIFESTS CEREBELLAR PATHOLOGY AND MOTOR IMPAIRMENT", Proceedings of the National Academy of Sciences of the United Statesof America, 94(15), 1997, pp. 8138-8143
25. SUZUKI K; SANGO K; PROIA RL; LANGAMAN C
    MICE DEFICIENT IN ALL FORMS OF LYSOSOMAL BETA-HEXOSAMINIDASE SHOW MUCOPOLYSACCHARIDOSIS-LIKE PATHOLOGY
    Journal of neuropathology and experimental neurology
    
    K. Suzuki et al., "MICE DEFICIENT IN ALL FORMS OF LYSOSOMAL BETA-HEXOSAMINIDASE SHOW MUCOPOLYSACCHARIDOSIS-LIKE PATHOLOGY", Journal of neuropathology and experimental neurology, 56(6), 1997, pp. 693-703
26. PENNYBACKER M; SCHUETTE CG; LIESSEM B; HEPBILDIKLER ST; KOPETKA JA; ELLIS MR; MYEROWITZ R; SANDHOFF K; PROIA RL
    EVIDENCE FOR THE INVOLVEMENT OF GLU-355 IN THE CATALYTIC ACTION OF HUMAN BETA-HEXOSAMINIDASE-B
    The Journal of biological chemistry
    
    M. Pennybacker et al., "EVIDENCE FOR THE INVOLVEMENT OF GLU-355 IN THE CATALYTIC ACTION OF HUMAN BETA-HEXOSAMINIDASE-B", The Journal of biological chemistry, 272(12), 1997, pp. 8002-8006
27. LIU Y; GRINBERG A; WESTPHAL H; PROIA RL
    MODELING THE CLINICAL FORMS OF GAUCHER-DISEASE - INTRODUCTION OF HUMAN-DISEASE MUTATIONS BY A SINGLE INSERTION MUTAGENESIS PROCEDURE (SIMP)
    American journal of human genetics
    
    Y. Liu et al., "MODELING THE CLINICAL FORMS OF GAUCHER-DISEASE - INTRODUCTION OF HUMAN-DISEASE MUTATIONS BY A SINGLE INSERTION MUTAGENESIS PROCEDURE (SIMP)", American journal of human genetics, 61(4), 1997, pp. 1495-1495
28. SANGO K; MCDONALD MP; CRAWLEY JN; MACK ML; TIFFT CJ; SKOP E; STARR CM; HOFFMANN A; SANDHOFF K; SUZUKI K; PROIA RL
    MICE LACKING BOTH SUBUNITS OF LYSOSOMAL BETA-HEXOSAMINIDASE DISPLAY GANGLIOSIDOSIS AND MUCOPOLYSACCHARIDOSIS
    Nature genetics
    
    K. Sango et al., "MICE LACKING BOTH SUBUNITS OF LYSOSOMAL BETA-HEXOSAMINIDASE DISPLAY GANGLIOSIDOSIS AND MUCOPOLYSACCHARIDOSIS", Nature genetics, 14(3), 1996, pp. 348-352
29. NORFLUS F; YAMANAKA S; PROIA RL
    PROMOTERS FOR THE HUMAN BETA-HEXOSAMINIDASE GENES, HEXA AND HEXB
    DNA and cell biology
    
    F. Norflus et al., "PROMOTERS FOR THE HUMAN BETA-HEXOSAMINIDASE GENES, HEXA AND HEXB", DNA and cell biology, 15(2), 1996, pp. 89-97
30. PLATT FM; NEISES GR; PROIA RL; DWEK RA; BUTTERS TD
    NOVEL INHIBITORS OF GLYCOSPHINGOLIPID BIOSYNTHESIS
    Glycobiology
    
    F.M. Platt et al., "NOVEL INHIBITORS OF GLYCOSPHINGOLIPID BIOSYNTHESIS", Glycobiology, 6(7), 1996, pp. 3-3
31. SUZUKI K; HOFFMANN A; SANDHOFF K; STARR CM; SKOP E; SANGO K; PROIA RL
    MICE TOTALLY DEFICIENT IN BETA-HEXOSAMINIDASE ALPHA-SUBUNIT AND BETA-SUBUNIT SHOW AN ADDITIONAL MUCOPOLYSACCHARIDOSIS PHENOTYPE
    Journal of neuropathology and experimental neurology
    
    K. Suzuki et al., "MICE TOTALLY DEFICIENT IN BETA-HEXOSAMINIDASE ALPHA-SUBUNIT AND BETA-SUBUNIT SHOW AN ADDITIONAL MUCOPOLYSACCHARIDOSIS PHENOTYPE", Journal of neuropathology and experimental neurology, 55(5), 1996, pp. 62-62
32. PENNYBACKER M; LIESSEM B; MOCZALL H; TIFFT CJ; SANDHOFF K; PROIA RL
    IDENTIFICATION OF DOMAINS IN HUMAN BETA-HEXOSAMINIDASE THAT DETERMINESUBSTRATE-SPECIFICITY
    The Journal of biological chemistry
    
    M. Pennybacker et al., "IDENTIFICATION OF DOMAINS IN HUMAN BETA-HEXOSAMINIDASE THAT DETERMINESUBSTRATE-SPECIFICITY", The Journal of biological chemistry, 271(29), 1996, pp. 17377-17382
33. SANGO K; YAMANAKA S; HOFFMANN A; OKUDA Y; GRINBERG A; WESTPHAL H; MCDONALD MP; CRAWLEY JN; SANDHOFF K; SUZUKI K; PROIA RL
    MOUSE MODELS OF TAY-SACHS AND SANDHOFF DISEASES DIFFER IN NEUROLOGIC PHENOTYPE AND GANGLIOSIDE METABOLISM
    Nature genetics
    
    K. Sango et al., "MOUSE MODELS OF TAY-SACHS AND SANDHOFF DISEASES DIFFER IN NEUROLOGIC PHENOTYPE AND GANGLIOSIDE METABOLISM", Nature genetics, 11(2), 1995, pp. 170-176
34. SANGO K; JOHNSON ON; KOZAK CA; PROIA RL
    BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE INVOLVED IN GANGLIOSIDE SYNTHESIS - CDNA SEQUENCE, EXPRESSION, AND CHROMOSOME MAPPING OF THE MOUSE GENE
    Genomics
    
    K. Sango et al., "BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE INVOLVED IN GANGLIOSIDE SYNTHESIS - CDNA SEQUENCE, EXPRESSION, AND CHROMOSOME MAPPING OF THE MOUSE GENE", Genomics, 27(2), 1995, pp. 362-365
35. SNYDER EY; MACKLIS ID; WOLFE JH; GINNS EI; JENDOUBI M; SIDMAN RL; TESSLER A; PROIA RL; GOTTLIEB DI; FRIEDMANN T; YANDAVA BD; FLAX JD; AURORA S; YOON CH; MOZELL RL; PAN ZH; TAYLOR RM; MCKINNEY C; LACORAZZA HD; ROSARIO CM; KOSARAS B; KITCHENS DL; BAUM L
    CNS PROGENITOR AND STEM-LIKE CELLS AS GENE DELIVERY VEHICLES AND MEDIATORS OF REPAIR
    Journal of cellular biochemistry
    
    E.Y. Snyder et al., "CNS PROGENITOR AND STEM-LIKE CELLS AS GENE DELIVERY VEHICLES AND MEDIATORS OF REPAIR", Journal of cellular biochemistry, 1995, pp. 357-357
36. PROIA RL; SANGO K; YAMANAKA S; OKUDA Y; GRINBERG A; WESTPHAL H; MCDONALD M; CRAWLEY JN; SUZUKI K
    MOUSE MODELS OF TAY-SACHS AND SANDHOFF DISEASES DISPLAY VASTLY DIFFERENT PHENOTYPES
    American journal of human genetics
    
    R.L. Proia et al., "MOUSE MODELS OF TAY-SACHS AND SANDHOFF DISEASES DISPLAY VASTLY DIFFERENT PHENOTYPES", American journal of human genetics, 57(4), 1995, pp. 268-268
37. 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
38. TANIIKE M; YAMANAKA S; PROIA RL; LANGAMAN C; BONETURRENTINE T; SUZUKI K
    NEUROPATHOLOGY OF MICE WITH TARGETED DISRUPTION OF HEXA GENE, A MODELOF TAY-SACHS-DISEASE
    Acta Neuropathologica
    
    M. Taniike et al., "NEUROPATHOLOGY OF MICE WITH TARGETED DISRUPTION OF HEXA GENE, A MODELOF TAY-SACHS-DISEASE", Acta Neuropathologica, 89(4), 1995, pp. 296-304
39. BOLES DJ; PROIA RL
    STABILITY AND PROCESSING OF BETA-HEXOSAMINIDASE-A MESSENGER-RNA IN THE PRESENCE OF A COMMON 4BP INSERTION
    The FASEB journal
    
    D.J. Boles e R.L. Proia, "STABILITY AND PROCESSING OF BETA-HEXOSAMINIDASE-A MESSENGER-RNA IN THE PRESENCE OF A COMMON 4BP INSERTION", The FASEB journal, 8(7), 1994, pp. 10001268-10001268
40. NORFLUS F; YAMANAKA S; PROIA RL
    CHARACTERIZATION OF THE PROMOTERS FOR THE BETA-HEXOSAMINIDASE GENES, HEXA AND HEXB
    The FASEB journal
    
    F. Norflus et al., "CHARACTERIZATION OF THE PROMOTERS FOR THE BETA-HEXOSAMINIDASE GENES, HEXA AND HEXB", The FASEB journal, 8(7), 1994, pp. 10001276-10001276
41. PENNYBACKER M; PROIA RL
    LOCALIZATION OF SUBSTRATE-SPECIFICITY DOMAINS OF BETA-HEXOSAMINIDASE USING CHIMERIC ENZYME CONSTRUCTS
    The FASEB journal
    
    M. Pennybacker e R.L. Proia, "LOCALIZATION OF SUBSTRATE-SPECIFICITY DOMAINS OF BETA-HEXOSAMINIDASE USING CHIMERIC ENZYME CONSTRUCTS", The FASEB journal, 8(7), 1994, pp. 10001347-10001347
42. YAMANAKA S; JOHNSON ON; LYU MS; KOZAK CA; PROIA RL
    THE MOUSE GENE ENCODING THE G(M2) ACTIVATOR PROTEIN (GM2A) - CDNA SEQUENCE, EXPRESSION, AND CHROMOSOME MAPPING
    Genomics
    
    S. Yamanaka et al., "THE MOUSE GENE ENCODING THE G(M2) ACTIVATOR PROTEIN (GM2A) - CDNA SEQUENCE, EXPRESSION, AND CHROMOSOME MAPPING", Genomics, 24(3), 1994, pp. 601-604
43. YAMANAKA S; JOHNSON ON; NORFLUS F; BOLES DJ; PROIA RL
    STRUCTURE AND EXPRESSION OF THE MOUSE BETA-HEXOSAMINIDASE GENES, HEXAAND HEXB
    Genomics
    
    S. Yamanaka et al., "STRUCTURE AND EXPRESSION OF THE MOUSE BETA-HEXOSAMINIDASE GENES, HEXAAND HEXB", Genomics, 21(3), 1994, pp. 588-596
44. YAMANAKA S; JOHNSON MD; GRINBERG A; WESTPHAL H; CRAWLEY JN; TANIIKE M; SUZUKI K; PROIA RL
    TARGETED DISRUPTION OF THE HEXA GENE RESULTS IN MICE WITH BIOCHEMICALAND PATHOLOGICAL FEATURES OF TAY-SACHS-DISEASE
    Proceedings of the National Academy of Sciences of the United Statesof America
    
    S. Yamanaka et al., "TARGETED DISRUPTION OF THE HEXA GENE RESULTS IN MICE WITH BIOCHEMICALAND PATHOLOGICAL FEATURES OF TAY-SACHS-DISEASE", Proceedings of the National Academy of Sciences of the United Statesof America, 91(21), 1994, pp. 9975-9979
45. BOLES DJ; PROIA RL
    PROCESSING OF HEXA MESSENGER-RNA IN THE PRESENCE OF THE 4BP INSERTIONCOMMONLY FOUND IN TAY-SACHS-DISEASE
    American journal of human genetics
    
    D.J. Boles e R.L. Proia, "PROCESSING OF HEXA MESSENGER-RNA IN THE PRESENCE OF THE 4BP INSERTIONCOMMONLY FOUND IN TAY-SACHS-DISEASE", American journal of human genetics, 53(3), 1993, pp. 667-667