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    1. Abbruzzese, G; Pigullo, S; Di Maria, E; Martinelli, P; Barone, P; Marchese, R; Scaglione, C; Assini, A; Lucetti, C; Berardelli, A; Calzetti, S; Bellone, E; Ajmar, F; Mandich, P
      Clinical and genetic study of essential tremor in the Italian population

      NEUROLOGICAL SCIENCES
    2. Musso, M; Balestra, P; Bellone, E; Cassandrini, D; Di Maria, E; Doria, LL; Grandis, M; Mancardi, G; Schenone, A; Levi, G; Ajmar, F; Mandich, P
      The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter

      NEUROBIOLOGY OF DISEASE
    3. Pigullo, S; Di Maria, E; Marchese, R; Assini, A; Bellone, E; Scaglione, C; Vitale, C; Bonuccelli, U; Barone, P; Ajmar, F; Martinelli, P; Abbruzzese, G; Mandich, P
      No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients

      JOURNAL OF NEURAL TRANSMISSION
    4. Di Maria, E; Tabaton, M; Vigo, T; Abbruzzese, G; Bellone, E; Donati, C; Frasson, E; Marchese, R; Montagna, P; Munoz, DG; Pramstaller, PP; Zanusso, G; Ajmar, F; Mandich, P
      Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy

      ANNALS OF NEUROLOGY
    5. Origone, P; Bonioli, E; Panucci, E; Costabel, S; Ajmar, F; Coviello, DA
      The Genoa experience of prenatal diagnosis in NF1

      PRENATAL DIAGNOSIS
    6. Mandich, P; Mancardi, GL; Varese, A; Soriani, S; Di Maria, E; Bellone, E; Bado, M; Gross, L; Windebank, AJ; Ajmar, F; Schenone, A
      Congenital hypomyelination due to myelin protein zero Q215X mutation

      ANNALS OF NEUROLOGY
    7. Ajmar, F; Di Maria, E; Padovani, L
      Mental function in males and females

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Mandich, P; Bellone, E; Di Maria, E; Pigullo, S; Pizzuti, A; Schenone, A; Soriani, S; Varese, A; Windebank, AJ; Ajmar, F
      Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Penco, S; Schenone, A; Bordo, D; Bolognesi, M; Abbruzzese, M; Bugiani, O; Ajmar, F; Garre, C
      A SOD1 gene mutation in a patient with slowly progressing familial ALS

      NEUROLOGY
    10. Ghiorzo, P; Ciotti, P; Mantelli, M; Heouaine, A; Queirolo, P; Rainero, ML; Ferrari, C; Santi, PL; De Marchi, R; Farris, A; Ajmar, F; Bruzzi, P; Bianchi-Scarra, G
      Characterization of Ligurian melanoma families and risk of occurrence of other neoplasia

      INTERNATIONAL JOURNAL OF CANCER
    11. MANDICH P; MONTERA M; BELLONE E; TROJANI A; DANIELE S; AJMAR F
      3 NOVEL MUTATIONS IN THE VON-HIPPEL-LINDAU TUMOR-SUPPRESSOR GENE IN ITALIAN PATIENTS

      Human mutation
    12. COVIELLO DA; PANUCCI E; IASCONE MR; BERTORELLI R; BOTTINELLI R; SPIRITO P; BIAGINI A; ARBUSTINI E; WATKINS H; REGGIANI C; AJMAR F
      MOLECULAR AND FUNCTIONAL-ANALYSIS OF MUTANT A-TROPOMYOSIN RESPONSIBLEFOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY

      European journal of human genetics
    13. MANDICH P; JACOPINI G; DIMARIA E; SABBADINI G; ABBRUZZESE G; CHIMIRRI F; BELLONE E; NOVELLETTO A; AJMAR F; FRONTALI M
      PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS (VOL 19, PG 68, 1998)

      Italian journal of neurological sciences
    14. MANDICH P; JACOPINI G; DIMARIA E; SABBADINI G; CHIMIRRI F; BELLONE E; NOVELLETTO A; AJMAR F; FRONTALI M
      PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS

      Italian journal of neurological sciences
    15. SQUITIERI F; GELLERA C; RUGGIERI S; CASTELLOTTI B; FRONTALI M; MANDICH P; NACMIAS B; DELSENNO L; RAGONA G; DIDONATO P; AJMAR F; FRATI L; NOVELLETTO A
      A MODEL TO PREDICT THE ONSET AGE IN UNAFFECTED HUNTINGTONS-DISEASE MUTATION CARRIERS

      Annals of neurology
    16. SCHENONE A; NOBBIO L; CAPONNETTO C; ABBRUZZESE M; MANDICH P; BELLONE E; AJMAR F; GHERARDI G; WINDEBANK AJ; MANCARDI G
      CORRELATION BETWEEN PMP-22 MESSENGER-RNA EXPRESSION AND PHENOTYPE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

      Annals of neurology
    17. MANDICH P; BELLONE E; MONTERA M; AJMAR F; SCHENONE A; NOBBIO L; MANCARDI G; PIZZUTI A; RATTI A; WINDEBANK AJ
      COMMENTS ON DAVAR ET-AL, PAIN, 67 (1996) 135-139

      Pain
    18. SCHITO AM; PIZZUTI A; DIMARIA E; SCHENONE A; RATTI A; DEFFERRARI R; BELLONE E; MANCARDI GL; AJMAR F; MANDICH P
      MESSENGER-RNA DISTRIBUTION IN ADULT HUMAN BRAIN OF GRIN2B, A N-METHYL-D-ASPARTATE (NMDA) RECEPTOR SUBUNIT

      Neuroscience letters
    19. COVIELLO DA; BOTTINELLI R; TROJANI A; PANUCCI E; IASCONE MR; BERTORELLI R; SPIRITO P; AUTORE C; BIAGINI A; REGGIANI C; AJMAR F
      MOLECULAR AND FUNCTIONAL-ANALYSIS OF MUTANT SARCOMERIC GENES RESPONSIBLE FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY

      American journal of human genetics
    20. BELLONE E; MANDICH P; JAMES R; NELIS E; LAMBA LD; VANBROECKHOVEN C; AJMAR F
      IDENTIFICATION OF A 4 BP DELETION (1560DEL4) IN PO GENE IN A FAMILY WITH SEVERE CHARCOT-MARIE-TOOTH DISEASE

      Human mutation
    21. BELLONE E; SCHENONE A; MANCARDI G; NICHOLSON GA; ABBRUZZESE M; AJMAR F; MANDICH P
      USE OF COSH1 PROBE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - A RELIABLE GENETIC TEST FOR DEMONSTRATION OF IDENTICAL SIZE OF 17P11.2 DELETION IN UNRELATED PATIENTS

      Neuroscience letters
    22. MANDICH P; DIMARIA E; BELLONE E; AJMAR F; ABBRUZZESE G
      MOLECULAR ANALYSIS OF THE IT15 GENE IN PATIENTS WITH APPARENTLY SPORADIC HUNTINGTONS-DISEASE

      European neurology
    23. MANDICH P; BELLONE E; SCHENONE A; MANCARDI G; ABBRUZZESE M; AJMAR F
      DE-NOVO DUPLICATION IN CHARCOT-MARIE-TOOTH TYPE 1A

      American journal of human genetics
    24. MANDICH P; JAMES R; NASSANI S; DEFFERRARI R; BELLONE E; MANCARDI G; SCHENONE A; ABBRUZZESE M; ROCCHI M; AJMAR F; ARCHIDIACONO N
      MOLECULAR DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) BY DETECTION OF 17P11.2 DELETION IN ITALIAN PATIENTS

      Journal of neurology
    25. JAMES R; BELLONE E; NELIS E; MANDICH P; SCHENONE A; MANCARDI G; VANBROECKHOVEN C; ABBRUZZESE M; AJMAR F
      MOLECULAR ANALYSIS OF 3 CASES WITH HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH MYELIN OUTFOLDING

      Neuroscience letters
    26. MANCARDI GL; MANDICH P; NASSANI S; SCHENONE A; JAMES R; DEFFERRARI R; BELLONE E; GIUNCHEDI M; AJMAR F; ABBRUZZESE M
      PROGRESSIVE SENSORY-MOTOR POLYNEUROPATHY WITH TOMACULOUS CHANGES IS ASSOCIATED TO 17P11.2 DELETION

      Journal of the neurological sciences
    27. GRIFA A; PIEMONTESE MR; MELCHIONDA S; ORIGONE P; ZELANTE L; COVIELLO D; FRATTA G; DALLAPICCOLA B; BALESTRAZZI P; AJMAR F; GASPARINI P
      SCREENING OF NEUROFIBROMATOSIS TYPE-1 GENE - IDENTIFICATION OF A LARGE DELETION AND OF AN INTRONIC VARIANT

      Clinical genetics
    28. NOVELLETTO A; PERSICHETTI F; SABBADINI G; MANDICH P; BELLONE E; AJMAR F; SQUITIERI F; CAMPANELLA G; BOZZA A; MACDONALD ME; GUSELLA JF; FRONTALI M
      POLYMORPHISM ANALYSIS OF THE HUNTINGTIN GENE IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE

      Human molecular genetics
    29. NOVELLETTO A; PERSICHETTI F; SABBADINI G; MANDICH P; BELLONE E; AJMAR F; PERGOLA M; DELSENNO L; MACDONALD ME; GUSELLA JF; FRONTALI M
      ANALYSIS OF THE TRINUCLEOTIDE REPEAT EXPANSION IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE

      Human molecular genetics
    30. MANDICH P; SCHITO AM; BELLONE E; ANTONACCI R; FINELLI P; ROCCHI M; AJMAR F
      MAPPING OF THE HUMAN NMDAR2B RECEPTOR SUBUNIT GENE (GRIN2B) TO CHROMOSOME 12P12

      Genomics
    31. MANCARDI GL; UCCELLI A; BELLONE E; SGHIRLANZONI A; MANDICH P; PAREYSON D; SCHENONE A; ABBRUZZESE M; AJMAR F
      17P11.2 DUPLICATION IS A COMMON FINDING IN SPORADIC CASES OF CHARCOT-MARIE-TOOTH TYPE-1

      European neurology
    32. SESSAREGO M; MARTINELLI G; CHIAMENTI A; DEFFERRARI R; FUGAZZA G; BRUZZONE R; AJMAR F; PIGNATTI PF
      MOLECULAR ANALYSIS OF 6 VARIANT PHILADELPHIA-CHROMOSOME TRANSLOCATIONS IN CHRONIC MYELOID-LEUKEMIA

      Cancer genetics and cytogenetics
    33. DALLAPICCOLA B; MANDICH P; BELLONE E; SELICORNI A; MOKIN V; AJMAR F; NOVELLI G
      PARENTAL ORIGIN OF CHROMOSOME-4P DELETION IN WOLF-HIRSCHHORN SYNDROME

      American journal of medical genetics
    34. RENIERI A; SERI M; GALLI L; BRUTTINI M; DEMARCHI M; MERONI M; BATTINI G; SESSA A; FARAGGIANA T; MASSELLA L; RIZZONI G; RIEGLER P; BASOLO B; COPPO R; MONGA G; VERCELLONE A; AJMAR F; BORRONE C; LAMPERI D; GATTI R; GUSMANO R; BANFI G; GIANI M; IMBASCIATI E; DANESINO C; MILETI M; FASCIOLO F; SCOLARI F; LUPO A; TURCO A; TENCONI R; PELLANDA MV; PERATONER L; SAVI M; LAVORATTI G; SALVADORI M; ANTONELLI A; PALLA R; DIPAOLO N; LIVI W; RAGAIOLO M; SCHIAVANO S; MANNO C; BUEMI M
      REPORT OF THE ITALIAN MULTICENTER STUDY ON ALPORT SYNDROME

      Kidney international


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/10/20 alle ore 23:09:29