Catalogo Articoli (Spogli Riviste)

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La ricerca find articoli where soggetti phrase all words 'ADULT GM2 GANGLIOSIDOSIS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 17 riferimenti
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    1. Navon, R
      Late-onset G(M2) gangliosidosis and other hexosaminidase mutations among Jews

      TAY-SACHS DISEASE
    2. Zelnik, N; Khazanov, V; Sheinkman, A; Karpati, AM; Peleg, L
      Clinical manifestations of psychiatric patients who are carriers of Tay-Sachs disease - Possible role of psychotropic drugs

      NEUROPSYCHOBIOLOGY
    3. Trifiletti, RR; Packard, AM
      Metabolic disorders presenting with behavioral symptoms in the school-agedchild

      CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
    4. MYEROWITZ R
      TAY-SACHS DISEASE-CAUSING MUTATIONS AND NEUTRAL POLYMORPHISMS IN THE HEX-A GENE

      Human mutation
    5. NAVON R; KHOSRAVI R; MELKI J; DRUCKER L; FONTAINE B; TURPIN JC; NGUYEN B; FARDEAU M; RONDOT P; BAUMANN N
      JUVENILE-ONSET SPINAL MUSCULAR-ATROPHY CAUSED BY COMPOUND HETEROZYGOSITY FOR MUTATIONS IN THE HEXA GENE

      Annals of neurology
    6. HUND E; GRAU A; FOGEL W; FORSTING M; CANTZ M; KUSTERMANNKUHN B; HARZER K; NAVON R; GOEBEL HH; MEINCK HM
      PROGRESSIVE CEREBELLAR-ATAXIA, PROXIMAL NEUROGENIC WEAKNESS AND OCULAR MOTOR DISTURBANCES - HEXOSAMINIDASE-A DEFICIENCY WITH LATE CLINICAL ONSET IN 4 SIBLINGS

      Journal of the neurological sciences
    7. CAO ZM; PETROULAKIS E; SALO T; TRIGGSRAINE B
      BENIGN HEXA MUTATIONS, C739T(R247W) AND C745T(R249W), CAUSE BETA-HEXOSAMINIDASE A PSEUDODEFICIENCY BY REDUCING THE ALPHA-SUBUNIT PROTEIN-LEVELS

      The Journal of biological chemistry
    8. MANOR I; HERMESH H; MUNITZ H; WEIZMAN A
      NEUROLEPTIC MALIGNANT SYNDROME WITH GANGLIOSIDOSIS TYPE-II

      Biological psychiatry
    9. 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
    10. ROSEBUSH PI; MACQUEEN GM; CLARKE JTR; CALLAHAN JW; STRASBERG PM; MAZUREK MF
      LATE-ONSET TAY-SACHS-DISEASE PRESENTING AS CATATONIC SCHIZOPHRENIA - DIAGNOSTIC AND TREATMENT ISSUES

      The Journal of clinical psychiatry
    11. GOODMAN AB
      MEDICAL CONDITIONS IN ASHKENAZI SCHIZOPHRENIC PEDIGREES

      Schizophrenia bulletin
    12. 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
    13. TANAKA A; SAKAZAKI H; MURAKAMI H; ISSHIKI G; SUZUKI K
      MOLECULAR-GENETICS OF TAY-SACHS-DISEASE IN JAPAN

      Journal of inherited metabolic disease
    14. LECOZ P; ASSOULINE E; VANIER MT; GOUTIERES F; MIKOL J; WOIMANT F; PINARD JM; AICARDI J; HAGUENAU M
      GM2-GANGLIOSIDOSIS VARIANT B1 - A FAMILY WITH LATE JUVENILE-ONSET

      Revue neurologique
    15. DRUCKER L; NAVON R
      TAY-SACHS-DISEASE IN AN ISRAELI ARAB FAMILY - TRY26-] STOP IN THE ALPHA-SUBUNIT OF HEXOSAMINIDASE-A

      Human mutation
    16. VANIER MT; FERLINZ K; ROUSSON R; DUTHEL S; LOUISOT P; SANDHOFF K; SUZUKI K
      DELETION OF ARGININE (608) IN ACID SPHINGOMYELINASE IS THE PREVALENT MUTATION AMONG NIEMANN-PICK DISEASE TYPE-B PATIENTS FROM NORTHERN AFRICA

      Human genetics
    17. CAO Z; NATOWICZ MR; KABACK MM; LIMSTEELE JST; PRENCE EM; BROWN D; CHABOT T; TRIGGSRAINE BL
      A SECOND MUTATION ASSOCIATED WITH APPARENT BETA-HEXOSAMINIDASE-A PSEUDODEFICIENCY - IDENTIFICATION AND FREQUENCY ESTIMATION

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/01/21 alle ore 02:48:53