Le informazioni sugli articoli di fonte ISI sono coperte da copyright

Per ulteriori informazioni selezionare i riferimenti di interesse.

1. Knoff, M; de Sao Clemente, SC; Pinto, RM; Gomes, DC
   Nematodes of elasmobranch fishes from the Southern Coast of Brazil
   MEMORIAS DO INSTITUTO OSWALDO CRUZ
   
   M. Knoff et al., "Nematodes of elasmobranch fishes from the Southern Coast of Brazil", MEM I OSW C, 96(1), 2001, pp. 81-87
2. 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
3. Rentrop, M; Hakk, K; Freisleder, FJ; Kissling, W; Kockott, G
   Homicide and hebephrenia-like syndrome in metachromatic leukodystrophy
   NERVENARZT
   
   M. Rentrop et al., "Homicide and hebephrenia-like syndrome in metachromatic leukodystrophy", NERVENARZT, 70(3), 1999, pp. 276-280
4. Gross, J; Blocher, D; Trott, GE; Rosler, M
   Assessment of the attention-deficit hyperactivity disorder in adults
   NERVENARZT
   
   J. Gross et al., "Assessment of the attention-deficit hyperactivity disorder in adults", NERVENARZT, 70(1), 1999, pp. 20-25
5. PETROULAKIS E; CAO ZM; CLARKE JTR; MAHURAN DJ; LEE G; TRIGGSRAINE B
   W474C AMINO-ACID SUBSTITUTION AFFECTS EARLY PROCESSING OF THE ALPHA-SUBUNIT OF BETA-HEXOSAMINIDASE-A AND IS ASSOCIATED WITH SUBACUTE G(M2) GANGLIOSIDOSIS
   Human mutation
   
   E. Petroulakis et al., "W474C AMINO-ACID SUBSTITUTION AFFECTS EARLY PROCESSING OF THE ALPHA-SUBUNIT OF BETA-HEXOSAMINIDASE-A AND IS ASSOCIATED WITH SUBACUTE G(M2) GANGLIOSIDOSIS", Human mutation, 11(6), 1998, pp. 432-442
6. MALANDRINI A; PALMERI S; FABRIZI GM; VILLANOVA M; BERTI G; SALVADORI C; GARDINI G; MOTTI L; SOLIME F; GUAZZI GC
   JUVENILE LEIGH-SYNDROME WITH PROTRACTED COURSE PRESENTING AS CHRONIC SENSORY-MOTOR NEUROPATHY, ATAXIA, DEAFNESS AND RETINITIS-PIGMENTOSA - A CLINICOPATHOLOGICAL REPORT
   Journal of the neurological sciences
   
   A. Malandrini et al., "JUVENILE LEIGH-SYNDROME WITH PROTRACTED COURSE PRESENTING AS CHRONIC SENSORY-MOTOR NEUROPATHY, ATAXIA, DEAFNESS AND RETINITIS-PIGMENTOSA - A CLINICOPATHOLOGICAL REPORT", Journal of the neurological sciences, 155(2), 1998, pp. 218-221
7. HARA A; UYAMA E; UCHINO M; SHIMMOTO M; UTSUMI K; ITOH K; KASE R; NAITO M; SUGIYAMA E; TAKETOMI T; SUKEGAWA K; SAKURABA H
   ADULT SANDHOFFS-DISEASE - R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE CASE
   Journal of the neurological sciences
   
   A. Hara et al., "ADULT SANDHOFFS-DISEASE - R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE CASE", Journal of the neurological sciences, 155(1), 1998, pp. 86-91
8. HOU YM; MCINNES B; HINEK A; KARPATI G; MAHURAN D
   A PRO(504)-]SER SUBSTITUTION IN THE BETA-SUBUNIT OF BETA-HEXOSAMINIDASE A INHIBITS ALPHA-SUBUNIT HYDROLYSIS OF G(M2) GANGLIOSIDE, RESULTINGIN CHRONIC SANDHOFF-DISEASE
   The Journal of biological chemistry
   
   Y.M. Hou et al., "A PRO(504)-]SER SUBSTITUTION IN THE BETA-SUBUNIT OF BETA-HEXOSAMINIDASE A INHIBITS ALPHA-SUBUNIT HYDROLYSIS OF G(M2) GANGLIOSIDE, RESULTINGIN CHRONIC SANDHOFF-DISEASE", The Journal of biological chemistry, 273(33), 1998, pp. 21386-21392
9. 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
10. PALM HW
    TRYPANORHYNCH CESTODES OF COMMERCIAL FISHES FROM NORTHEAST BRAZILIAN COASTAL WATERS
    Memorias do Instituto Oswaldo Cruz
    
    H.W. Palm, "TRYPANORHYNCH CESTODES OF COMMERCIAL FISHES FROM NORTHEAST BRAZILIAN COASTAL WATERS", Memorias do Instituto Oswaldo Cruz, 92(1), 1997, pp. 69-79
11. FERNANDES MJG; YEW S; LECLERC D; HENRISSAT B; VORGIAS CE; GRAVEL RA; HECHTMAN P; KAPLAN F
    IDENTIFICATION OF CANDIDATE ACTIVE-SITE RESIDUES IN LYSOSOMAL BETA-HEXOSAMINIDASE-A
    The Journal of biological chemistry
    
    M.J.G. Fernandes et al., "IDENTIFICATION OF CANDIDATE ACTIVE-SITE RESIDUES IN LYSOSOMAL BETA-HEXOSAMINIDASE-A", The Journal of biological chemistry, 272(2), 1997, pp. 814-820
12. TEWS I; PERRAKIS A; OPPENHEIM A; DAUTER Z; WILSON KS; VORGIAS CE
    BACTERIAL CHITOBIASE STRUCTURE PROVIDES INSIGHT INTO CATALYTIC MECHANISM AND THE BASIS OF TAY-SACHS-DISEASE
    Nature structural biology
    
    I. Tews et al., "BACTERIAL CHITOBIASE STRUCTURE PROVIDES INSIGHT INTO CATALYTIC MECHANISM AND THE BASIS OF TAY-SACHS-DISEASE", Nature structural biology, 3(7), 1996, pp. 638-648
13. BORNEMANN A; BESSER R; SHIN YS; GOEBEL HH
    MILD ADULT MYOPATHIC VARIANT OF TYPE-IV GLYCOGENOSIS
    Neuromuscular disorders
    
    A. Bornemann et al., "MILD ADULT MYOPATHIC VARIANT OF TYPE-IV GLYCOGENOSIS", Neuromuscular disorders, 6(2), 1996, pp. 95-99
14. 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
15. DEGASPERI R; SOSA MAG; GREBNER EE; MANSFIELD D; BATTISTINI S; SARTORATO EL; RAGHAVAN SS; DAVIS JG; KOLODNY EH
    SUBSTITUTION OF ALANINE(543) WITH A THREONINE RESIDUE AT THE CARBOXY-TERMINAL END OF THE BETA-CHAIN IS ASSOCIATED WITH THERMOLABILE HEXOSAMINIDASE-B IN A JEWISH FAMILY OF ORIENTAL ANCESTRY
    Biochemical and molecular medicine
    
    R. Degasperi et al., "SUBSTITUTION OF ALANINE(543) WITH A THREONINE RESIDUE AT THE CARBOXY-TERMINAL END OF THE BETA-CHAIN IS ASSOCIATED WITH THERMOLABILE HEXOSAMINIDASE-B IN A JEWISH FAMILY OF ORIENTAL ANCESTRY", Biochemical and molecular medicine, 56(1), 1995, pp. 31-36
16. 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
17. HARRISON MJG; TEEPEN JLJM
    A CASE OF RECURRENT HEADACHE AND NEUROLOGICAL DEFICIT
    Journal of Neurology, Neurosurgery and Psychiatry
    
    M.J.G. Harrison e J.L.J.M. Teepen, "A CASE OF RECURRENT HEADACHE AND NEUROLOGICAL DEFICIT", Journal of Neurology, Neurosurgery and Psychiatry, 59(3), 1995, pp. 332-337
18. MAHURAN DJ
    BETA-HEXOSAMINIDASE - BIOSYNTHESIS AND PROCESSING OF THE NORMAL ENZYME, AND IDENTIFICATION OF MUTATIONS CAUSING JEWISH TAY-SACHS-DISEASE
    Clinical biochemistry
    
    D.J. Mahuran, "BETA-HEXOSAMINIDASE - BIOSYNTHESIS AND PROCESSING OF THE NORMAL ENZYME, AND IDENTIFICATION OF MUTATIONS CAUSING JEWISH TAY-SACHS-DISEASE", Clinical biochemistry, 28(2), 1995, pp. 101-106