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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. Bolino, A; Muglia, M; Conforti, FL; LeGuern, E; Salih, MAM; Georgiou, DM; Christodoulou, K; Hausmanowa-Petrusewicz, I; Mandich, P; Schenone, A; Gambardella, A; Bono, F; Quattrone, A; Devoto, M; Monaco, AP
      Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

      NATURE GENETICS
    5. Bolino, A; Levy, ER; Muglia, M; Conforti, FL; LeGuern, E; Salih, MAM; Georgiou, DM; Hausmanowa-Petrusewicz, I; Mandich, P; Gambardella, A; Quattrone, A; Devoto, M; Monaco, AP
      Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22

      GENOMICS
    6. 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
    7. Squitieri, F; Sabbadini, G; Mandich, P; Gellera, C; Di Maria, E; Bellone, E; Castellotti, B; Nargi, E; de Grazia, U; Frontali, M; Novelletto, A
      Family and molecular data for a fine analysis of age at onset in Huntington disease

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Pizzuti, A; Novelli, G; Ratti, A; Amati, F; Bordoni, R; Mandich, P; Bellone, E; Conti, E; Bengala, M; Mari, A; Silani, V; Dallapiccola, B
      Isolation and characterization of a novel transcript embedded within HIRA,a gene deleted in DiGeorge syndrome

      MOLECULAR GENETICS AND METABOLISM
    9. 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
    10. 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
    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. Bolino, A; Seri, M; Caroli, F; Eubanks, J; Srinivasan, J; Mandich, P; Schenone, A; Quattrone, A; Romeo, G; Catterall, WA; Devoto, M
      Exclusion of the SCN2B gene as candidate for CMT4B

      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. MALASPINA P; CRUCIANI F; CIMINELLI BM; TERRENATO L; SANTOLAMAZZA P; ALONSO A; BANYKO J; BRDICKA R; GARCIA O; GAUDIANO C; GUANTI G; KIDD KK; LAVINHA J; AVILA M; MANDICH P; MORAL P; QAMAR R; MEHDI SQ; RAGUSA A; SEFANESCU G; CARAGHIN M; TYLERSMITH C; SCOZZARI R; NOVELLETTO A
      NETWORK ANALYSES OF Y-CHROMOSOMAL TYPES IN EUROPE, NORTHERN AFRICA, AND WESTERN ASIA REVEAL SPECIFIC PATTERNS OF GEOGRAPHIC-DISTRIBUTION

      American journal of human genetics
    17. 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
    18. 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
    19. 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
    20. ABBRUZZESE G; BUCCOLIERI A; MARCHESE R; TROMPETTO C; MANDICH P; SCHIEPPATI M
      INTRACORTICAL INHIBITION AND FACILITATION ARE ABNORMAL IN HUNTINGTONS-DISEASE - A PAIRED MAGNETIC STIMULATION STUDY

      Neuroscience letters
    21. SCHENONE A; NOBBIO L; MANDICH P; BELLONE E; ABBRUZZESE M; AYMAR F; MANCARDI GL; WINDEBANK AJ
      UNDEREXPRESSION OF MESSENGER-RNA FOR PERIPHERAL MYELIN PROTEIN-22 IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

      Neurology
    22. NOVELLI G; PIZZUTI A; AMATI F; RATTI A; MARI A; FOGH I; CONTI E; BENGALA M; BORDONI R; BELLONE E; MANDICH P; COLOSIMO A; PANDOLFI F; DALLAPICCOLA B
      IDENTIFICATION OF A NOVEL NONCODING NUCLEAR-RNA FROM THE DIGEORGE-SYNDROME CRITICAL REGION AT 22Q11

      American journal of human genetics
    23. DANIELE S; PELLICCIOLI GP; DANIELE C; MANDICH P; MONTERA M; SIMONCELLI C; BIANCHI M; CAVALIERE A
      VON-HIPPEL-LINDAU DISEASE IN TWINS - CLINICAL AND MOLECULAR STUDY

      European journal of neurology
    24. 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
    25. 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
    26. SCHENONE AE; NOBBIO L; GROSS L; MANDICH P; BELLONE E; ABBRUZZESE M; MANCARDI GL; WINDEBANK AJ
      PERIPHERAL MYELIN PROTEIN-22 IS UNDEREXPRESSED IN PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

      Neurology
    27. 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
    28. 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
    29. 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
    30. 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
    31. 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
    32. SCHENONE A; NOBBIO L; WINDEBANK AJ; MANDICH P; BELLONE E; ABBRUZZESE M; MANCARDI GL
      EXPRESSION OF PMP-22 IN SURAL NERVES OF PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP)

      American journal of human genetics
    33. 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
    34. 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
    35. 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
    36. SGHIRLANZONI A; PAREYSON D; MARAZZI R; CAVALETTI G; BELLONE E; MANDICH P; BALESTRINI MR; RIVA D
      HOMOZYGOUS HYPERTROPHIC HEREDITARY MOTOR AND SENSORY NEUROPATHIES

      Italian journal of neurological sciences
    37. SCHENONE A; ABBRUZZESE M; UCCELLI A; MANDICH P; JAMES R; BELLONE E; GIUNCHEDI M; ROLANDO S; CAPELLO E; MANCARDI GL
      HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH MYELIN OUTFOLDING - CLINICAL, GENETIC AND NEUROPATHOLOGICAL STUDY OF 3 CASES (VOL 122, PG 20, 1994)

      Journal of the neurological sciences
    38. 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
    39. 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
    40. PAREYSON D; DANGELO A; MANDICH P; PANDOLFO M; SGHIRLANZONI A
      ROUSSY-LEVY SYNDROME - A KINDRED WITH CHROMOSOME-17P11.2 DUPLICATION

      Neurology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/10/20 alle ore 00:28:05