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    1. Santos, MM; Ohshima, K; Pandolfo, M
      Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm

      HUMAN MOLECULAR GENETICS
    2. Pandolfo, M
      Molecular basis of Friedreich ataxia

      MOVEMENT DISORDERS
    3. Mazarib, A; Xiong, L; Neufeld, MY; Birnbaum, M; Korczyn, AD; Pandolfo, M; Berkovic, SF
      Unverricht-Lundborg disease in a five-generation Arab family - Instabilityof dodecamer repeats

      NEUROLOGY
    4. Sakamoto, N; Ohshima, K; Montermini, L; Pandolfo, M; Wells, RD
      Sticky DNA, a self-associated complex formed at long GAA center dot TTC repeats in intron 1 of the frataxin gene, inhibits transcriptions

      JOURNAL OF BIOLOGICAL CHEMISTRY
    5. Sakamoto, N; Larson, JE; Iyer, RR; Montermini, L; Pandolfo, M; Wells, RD
      GGA center dot TCC-interrupted triplets in long GAA center dot TTC repeatsinhibit the formation of tripler and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities

      JOURNAL OF BIOLOGICAL CHEMISTRY
    6. Jiralerspong, S; Ge, B; Hudson, TJ; Pandolfo, M
      Manganese superoxide dismutase induction by iron is impaired in Friedreichataxia cells

      FEBS LETTERS
    7. Ross, BM; Eder, K; Moszczynska, A; Mamalias, N; Lamarche, J; Ang, L; Pandolfo, M; Rouleau, G; Kirchgessner, M; Kish, SJ
      Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type-1

      MOVEMENT DISORDERS
    8. Emond, M; Lepage, G; Vanasse, M; Pandolfo, M
      Increased levels of plasma malondialdehyde in Friedreich ataxia

      NEUROLOGY
    9. Labuda, M; Labuda, D; Miranda, C; Poirier, J; Soong, BW; Barucha, NE; Pandolfo, M
      Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion

      NEUROLOGY
    10. Sakamoto, N; Chastain, PD; Parniewski, P; Ohshima, K; Pandolfo, M; Griffith, JD; Wells, RD
      Sticky DNA: Self-association properties of long GAA center dot TTC repeatsin R center dot R center dot Y triplex structures from Friedreich's ataxia

      MOLECULAR CELL
    11. Poirier, J; Ohshima, K; Pandolfo, M
      Heteroduplexes may confuse the interpretation of PCR-based molecular testsfor the Friedreich ataxia GAA triplet repeat

      HUMAN MUTATION
    12. Cossee, M; Durr, A; Schmitt, M; Dahl, N; Trouillas, P; Allinson, P; Kostrzewa, M; Nivelon-Chevallier, A; Gustavson, KH; Kohlschutter, A; Muller, U; Mandel, JL; Brice, A; Koenig, M; Cavalcanti, F; Tammaro, A; De Michele, G; Filla, A; Cocozza, S; Labuda, M; Montermini, L; Poirier, J; Pandolfo, M
      Friedreich's ataxia: Point mutations and clinical presentation of compoundheterozygotes

      ANNALS OF NEUROLOGY
    13. Pandolfo, M
      Friedreich's ataxia: Clinical aspects and pathogenesis

      SEMINARS IN NEUROLOGY
    14. Ohshima, K; Sakamoto, N; Labuda, M; Poirier, J; Moseley, ML; Montermini, L; Ranum, LPW; Wells, RD; Pandolfo, M
      A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis

      NEUROLOGY
    15. Kish, SJ; Mastrogiacomo, F; Guttman, H; Furukawa, Y; Taanman, JW; Dozic, S; Pandolfo, M; Lamarche, J; DiStefano, L; Chang, LJ
      Decreased brain protein levels of cytochrome oxidase subunits in Alzheimer's disease and in hereditary spinocerebellar ataxia disorders: A nonspecific change?

      JOURNAL OF NEUROCHEMISTRY
    16. Li, DS; Ohshima, K; Jiralerspong, S; Bojanowski, MW; Pandolfo, M
      Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants

      FEBS LETTERS
    17. Pandolfo, M
      Molecular pathogenesis of Friedreich ataxia

      ARCHIVES OF NEUROLOGY
    18. Xiong, L; Labuda, M; Li, DS; Hudson, TJ; Desbiens, R; Patry, G; Verret, S; Langevin, P; Mercho, S; Seni, MH; Scheffer, I; Dubeau, F; Berkovic, SF; Andermann, F; Andermann, E; Pandolfo, M
      Mapping of a gene determining familiar partial epilepsy with variable focito chromosome 22q11-q12

      AMERICAN JOURNAL OF HUMAN GENETICS
    19. PANDOLFO M
      MOLECULAR-GENETICS AND PATHOGENESIS OF FRIEDREICH ATAXIA

      Neuromuscular disorders
    20. PANDOLFO M; LABUDA M; XIONG L; STHILAIRE JM; BERKOVIC S; SCHEFFER I; DESBIENS R; VERRET S; LANGEVIN P; PATRY G; ANDERMANN F; ANDERMANN E
      4 FAMILIES WITH AN AUTOSOMAL-DOMINANT PARTIAL EPILEPSY SYNDROME WITH FRONTAL OR TEMPORAL FOCI

      Annals of neurology
    21. PANDOLFO M; MONTERMINI L; COVA L; OHSHIMA K; JIRALERSPONG S; SHOUBRIDGE E; KAPLAN J
      CELL-SPECIFICITY OF THE MOLECULAR DEFECT IN FRIEDREICH ATAXIA

      Annals of neurology
    22. PANDOLFO M; MONTERMINI L
      PRENATAL-DIAGNOSIS OF FRIEDREICH ATAXIA

      Prenatal diagnosis
    23. Pandolfo, M; Montermini, L
      Molecular genetics of the hereditary ataxias

      ADVANCES IN GENETICS, VOL 38
    24. ZARA F; LABUDA M; GAROFALO PGA; DURISOTTI C; BIANCHI A; CASTELLOTTI B; PATEL PI; AVANZINI G; PANDOLFO M
      UNUSUAL EEG PATTERN LINKED TO CHROMOSOME 3P IN A FAMILY WITH IDIOPATHIC GENERALIZED EPILEPSY

      Neurology
    25. PANDOLFO M; MONTERMINI L; COVA L; JIRALERSPONG S
      IRON, OXIDATIVE STRESS AND FRIEDREICH ATAXIA

      Neurology
    26. Moseley, ML; Benzow, KA; Schut, LJ; Bird, TD; Gomez, CM; Barkhaus, PE; Blindauer, KA; Labuda, M; Pandolfo, M; Koob, MD; Ranum, LPW
      Incidence of dominant spinocerebellar and Friedreich triplet repeats among361 ataxia families

      NEUROLOGY
    27. OHSHIMA K; MONTERMINI L; WELLS RD; PANDOLFO M
      INHIBITORY EFFECTS OF EXPANDED GAA-CENTER-DOT-TTC TRIPLET REPEATS FROM INTRON-I OF THE FRIEDREICH ATAXIA GENE ON TRANSCRIPTION AND REPLICATION IN-VIVO

      The Journal of biological chemistry
    28. KISH SJ; LOPESCENDES I; GUTTMAN M; FURUKAWA Y; PANDOLFO M; ROULEAU GA; ROSS BM; NANCE M; SCHUT L; ANG L; DISTEFANO L
      BRAIN GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE-ACTIVITY IN HUMAN TRINUCLEOTIDE REPEAT DISORDERS

      Archives of neurology
    29. TAYLOR T; LITT M; KRAMER P; PANDOLFO M; ANGELINI L; NARDOCCI N; PINEDA M; DAVIES S; HATTORI H; FLETT PJ; CILIO MR; BERTINI E; HAYFLICK SJ
      HOMOZYGOSITY MAPPING OF THE GENE FOR HALLERVODEN-SPATZ-SYNDROME TO CHROMOSOME-20P12.3-P13 (VOL 14, PG 479, 1996)

      Nature genetics
    30. COSSEE M; CAMPUZANO V; KOUTNIKOVA H; FISCHBECK K; MANDEL JL; KOENIG M; BIDICHANDANI SI; PATEL PI; MOLTE MD; CANIZARES J; DEFRUTOS R; PIANESE L; CAVALCANTI F; MONTICELLI A; COCOZZA S; MONTERMINI L; PANDOLFO M
      FRATAXIN FRACAS

      Nature genetics
    31. JIRALERSPONG S; LIU YL; MONTERMINI L; STIFANI S; PANDOLFO M
      FRATAXIN SHOWS DEVELOPMENTALLY-REGULATED TISSUE-SPECIFIC EXPRESSION IN THE MOUSE EMBRYO

      Neurobiology of disease
    32. MONTERMINI L; ANDERMANN E; LABUDA M; RICHTER A; PANDOLFO M; CAVALCANTI F; PIANESE L; IODICE L; FARINA G; MONTICELLI A; TURANO M; FILLA A; DEMICHELE G; COCOZZA S
      THE FRIEDREICH ATAXIA GAA TRIPLET REPEAT - PREMUTATION AND NORMAL ALLELES

      Human molecular genetics
    33. CAMPUZANO V; MONTERMINI L; LUTZ Y; COVA L; HINDELANG C; JIRALERSPONG S; TROTTIER Y; KISH SJ; FAUCHEUX B; TROUILLAS P; AUTHIER FJ; DURR A; MANDEL JL; VESCOVI A; PANDOLFO M; KOENIG M
      FRATAXIN IS REDUCED IN FRIEDREICH-ATAXIA PATIENTS AND IS ASSOCIATED WITH MITOCHONDRIAL-MEMBRANES

      Human molecular genetics
    34. DESILVA D; BABCOCK M; OAKS R; DAVISKAPLAN S; JIRALERSPONG S; MONTERMINI L; PANDOLFO M; KAPLAN J
      CHARACTERIZATION OF YFH1, A YEAST GENE THAT REGULATES MITOCHONDRIAL IRON ACCUMULATION AND IS HOMOLOGOUS TO THE FRIEDREICHS ATAXIA GENE

      The FASEB journal
    35. MONTERMINI L; RICHTER A; MORGAN K; JUSTICE CM; JULIEN D; CASTELLOTTI B; MERCIER J; POIRIER J; CAPOZZOLI F; BOUCHARD JP; LEMIEUX B; MATHIEU J; VANASSE M; SENI MH; GRAHAM G; ANDERMANN F; ANDERMANN E; MELANCON SB; KEATS BJB; DIDONATO S; PANDOLFO M
      PHENOTYPIC VARIABILITY IN FRIEDREICH-ATAXIA - ROLE OF THE ASSOCIATED GAA TRIPLET REPEAT EXPANSION

      Annals of neurology
    36. BABCOCK M; DESILVA D; OAKS R; DAVISKAPLAN S; JIRALERSPONG S; MONTERMINI L; PANDOLFO M; KAPLAN J
      REGULATION OF MITOCHONDRIAL IRON ACCUMULATION BY YFH1P, A PUTATIVE HOMOLOG OF FRATAXIN

      Science
    37. GESCHWIND DH; PERLMAN S; GRODY WW; TELATAR M; MONTERMINI L; PANDOLFO M; GATTI RA
      FRIEDREICHS ATAXIA GAA REPEAT EXPANSION IN PATIENTS WITH RECESSIVE ORSPORADIC ATAXIA

      Neurology
    38. GELLERA C; PAREYSON D; CASTELLOTTI B; MAZZUCCHELLI F; ZAPPACOSTA B; PANDOLFO M; DIDONATO S
      VERY LATE-ONSET FRIEDREICHS ATAXIA WITHOUT CARDIOMYOPATHY IS ASSOCIATED WITH LIMITED GAA EXPANSION IN THE X25 GENE

      Neurology
    39. MONTERMINI L; KISH SJ; JIRALERSPONG S; LAMARCHE JB; PANDOLFO M
      SOMATIC MOSAICISM FOR FRIEDREICHS ATAXIA GAA TRIPLET REPEAT EXPANSIONS IN THE CENTRAL-NERVOUS-SYSTEM

      Neurology
    40. PAREYSON D; GELLERA C; CASTELLOTTI B; ZAPPACOSTA B; MAZZUCCHELLI F; RIGGIO MC; TARONI F; PANDOLFO M; DIDONATO S
      FRIEDREICHS ATAXIA IN NORTHERN ITALY - DNA EXPANSION AND GENOTYPE-PHENOTYPE CORRELATIONS

      Neurology
    41. PANDOLFO M; MONTERMINI L
      THE EFFECT OF MOLECULAR TESTING ON THE DIAGNOSTIC-CRITERIA FOR FRIEDREICH ATAXIA

      Neurology
    42. JANKOVIC J; BEACH J; PANDOLFO M; PATEL PI
      FAMILIAL ESSENTIAL TREMOR IN 4 KINDREDS - PROSPECTS FOR GENETIC-MAPPING

      Archives of neurology
    43. BIDICHANDANI SI; ASHIZAWA T; PANDOLFO M; PATEL PI
      THE GAA TRIPLET REPEAT EXPANSION IN FRIEDREICH ATAXIA INTERFERES WITHTRANSCRIPTION AND MAY BE ASSOCIATED WITH AN UNUSUAL DNA-STRUCTURE

      American journal of human genetics
    44. ZARA F; LABUDA M; BIANCHI A; GAROFALO PG; DURISOTTI C; PANDOLFO M
      EVIDENCE FOR A LOCUS PREDISPOSING TO IDIOPATHIC GENERALIZED EPILEPSY AND SPIKE-WAVE EEG ON CHROMOSOME 3P14.2-P12.1

      American journal of human genetics
    45. LABUDA M; MONTERMINI L; POIRIER J; RICHTER A; ANDERMANN E; KISH S; GESCHWIND D; PANDOLFO M
      MOLECULAR ANALYSIS OF PATIENTS WITH FRIEDREICH ATAXIA PHENOTYPE NOT HOMOZYGOUS FOR THE GAA TRIPLET REPEAT EXPANSION

      American journal of human genetics
    46. OHSHIMA K; MONTERMINI L; WELLS RD; PANDOLFO M
      CLONING AND CHARACTERIZATION OF INTRONIC GAA-TTC TRIPLET REPEATS FROMFRIEDREICH ATAXIA

      American journal of human genetics
    47. TAYLOR TD; LITT M; KRAMER P; PANDOLFO M; ANGELINI L; NARDOCCI N; DAVIS S; PINEDA M; HATTORI H; FLETT PJ; CILIO MR; BERTINI E; HAYFLICK SJ
      HOMOZYGOSITY MAPPING OF HALLERVORDEN-SPATZ SYNDROME TO CHROMOSOME 20P12.3-P13

      Nature genetics
    48. MONROS E; CANIZARES J; MOLTO MD; RODIUS F; MONTERMINI L; COSSEE M; MARTINEZ F; PRIETO F; DEFRUTOS R; KOENIG M; PANDOLFO M; BERTRANPETIT J; PALAU F
      EVIDENCE FOR A COMMON ORIGIN OF MOST FRIEDREICH ATAXIA CHROMOSOMES INTHE SPANISH POPULATION

      European journal of human genetics
    49. CAMPUZANO V; MONTERMINI L; MOLTO MD; PIANESE L; COSSEE M; CAVALCANTI F; MONROS E; RODIUS F; DUCLOS F; MONTICELLI A; ZARA F; CANIZARES J; KOUTNIKOVA H; BIDICHANDANI SI; GELLERA C; BRICE A; TROUILLAS P; DEMICHELE G; FILLA A; DEFRUTOS R; PALAU F; PATEL PI; DIDONATO S; MANDEL JL; COCOZZA S; KOENIG M; PANDOLFO M
      FRIEDREICHS-ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONIC GAA TRIPLET REPEAT EXPANSION

      Science
    50. MONTERMINI L; ZARA F; BIDICHANDANI S; PATEL PI; PANDOLFO M; CAMPUZANO V; COSSEE M; RODIUS F; DUCLOS F; KOUTNIKOVA H; MANDEL JL; KOENIG M; PIANESE FL; MONTICELLI A; CAVALCANTI F; COCOZZA S; DEMICHELE G; FILLA A; BRICE A; TROUILLAS P; MONROS E; PALAU F; CANIZARES J; DEFRUTOS R; GELLERA C; DIDONATO S
      FRIEDREICH ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONICGAA TRIPLET REPEAT EXPANSION

      Neurology
    51. FIGUERA LE; PANDOLFO M; DUNNE PW; CANTU JM; PATEL PI
      MAPPING OF THE CONGENITAL GENERALIZED HYPERTRICHOSIS LOCUS TO CHROMOSOME XQ24-Q27.1

      Nature genetics
    52. EOLI M; PANDOLFO M; AMOROSO A; SALMAGGI A; ZAFFARONI M; GASPARINI P; DIDONATO S; MILANESE C; ZEVIANI M
      EVIDENCE OF LINKAGE BETWEEN SUSCEPTIBILITY TO MULTIPLE-SCLEROSIS AND HLA-CLASS-II LOCI IN ITALIAN MULTIPLEX FAMILIES

      European journal of human genetics
    53. ZARA F; BIANCHI A; AVANZINI G; DIDONATO S; CASTELLOTTI B; PATEL PI; PANDOLFO M
      MAPPING OF GENES PREDISPOSING TO IDIOPATHIC GENERALIZED EPILEPSY

      Human molecular genetics
    54. PALAU F; DEMICHELE G; VILCHEZ JJ; PANDOLFO M; MONROS E; COCOZZA S; SMEYERS P; LOPEZARLANDIS J; CAMPANELLA G; DIDONATO S; FILLA A
      EARLY-ONSET ATAXIA WITH CARDIOMYOPATHY AND RETAINED TENDON REFLEXES MAPS TO THE FRIEDREICHS ATAXIA LOCUS ON CHROMOSOME 9Q

      Annals of neurology
    55. LOPESCENDES I; ANDERMANN E; ROUSSEAU M; BECK C; SORENSEN T; YACUBIAN EMT; SANTOS MCD; ASHWAL S; TORO C; BERG MJ; LINDHOUT D; RESOR SR; ANDERMANN F; GENTON P; PANDOLFO M; MALAFOSSE A; ROULEAU GA
      SEARCHING FOR THE GENE CAUSING LAFORA BODY DISEASE

      Epilepsia
    56. ELSEA SH; JUYAL RC; JIRALERSPONG S; FINUCANE BM; PANDOLFO M; GREENBERG F; BALDINI A; STOVER P; PATEL PI
      HAPLOINSUFFICIENCY OF CYTOSOLIC SERINE HYDROXYMETHYLTRANSFERASE IN THE SMITH-MAGENIS SYNDROME

      American journal of human genetics
    57. MONTERMINI L; RODIUS F; PIANESE L; MOLTO MD; COSSEE M; CAMPUZANO V; CAVALCANTI F; MONTICELLI A; PALAU F; GYAPAY G; WENHERT M; ZARA F; PATEL PI; COCOZZA S; KOENIG M; PANDOLFO M
      THE FRIEDREICH ATAXIA CRITICAL REGION SPANS A 150-KB INTERVAL ON CHROMOSOME 9Q13

      American journal of human genetics
    58. EOLI M; PANDOLFO M; SALMAGGI A; MILANESE C; ZEVIANI M
      THE ROLE OF HLA CLASS-II POLYMORPHISMS IN MULTIPLE-SCLEROSIS SUSCEPTIBILITY IN ITALIANS

      American journal of human genetics
    59. MONTERMINI L; MOLTO MD; ZARA F; PATEL PI; PIANESE L; CAVALCANTI F; RODIUS F; COCOZZA S; KOENIG M; PANDOLFO M
      MOLECULAR-GENETIC STUDIES OF FRIEDREICHS ATAXIA

      American journal of human genetics
    60. ELSEA SH; JUYAL RC; JIRALERSPONG S; FINUCANE BM; PANDOLFO M; GREENBERG F; BALDINI A; STOVER P; PATEL PI
      HAPLOINSUFFICIENCY OF CYTOSOLIC SERINE HYDROXYMETHYLTRANSFERASE IN THE SMITH-MAGENIS SYNDROME

      American journal of human genetics
    61. DOERFLINGER N; LINDER C; OUAHCHI K; GYAPAY G; WEISSENBACH J; LEPASLIER D; RIGAULT P; BELAL S; BENHAMIDA C; HENTATI F; BENHAMIDA M; PANDOLFO M; DIDONATO S; SOKOL R; KAYDEN H; LANDRIEU P; DURR A; BRICE A; GOUTIERES F; KOHLSCHUTTER A; SABOURAUD P; BENOMAR A; YAHYAOUI M; MANDEL JL; KOENIG M
      ATAXIA WITH VITAMIN-E-DEFICIENCY - REFINEMENT OF GENETIC LOCALIZATIONAND ANALYSIS OF LINKAGE DISEQUILIBRIUM BY USING NEW MARKERS IN 14 FAMILIES

      American journal of human genetics
    62. LORENZETTI D; PAREYSON D; SGHIRLANZONI A; ROA BB; ABBAS NE; PANDOLFO M; DIDONATO S; LUPSKI JR
      A 1.5-MB DELETION IN 17P11.2-P12 IS FREQUENTLY OBSERVED IN ITALIAN FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

      American journal of human genetics
    63. MINOLETTI F; COLOMBO I; MARTIN AL; DIDONATO S; TARONI F; FINOCCHIARO G; PANDOLFO M
      LOCALIZATION OF THE HUMAN GENE FOR CARNITINE PALMITOYLTRANSFERASE TO 1P13-P11 BY NONRADIOACTIVE IN-SITU HYBRIDIZATION (VOL 13, PG 1372, 1992)

      Genomics
    64. PANDOLFO M; PIZZUTI A; REDOLFI E; MUNARO M; DIDONATO S; CAVALCANTI F; FILLA A; MONTICELLI A; PIANESE L; COCOZZA S
      ISOLATION OF A NEW GENE IN THE FRIEDREICH ATAXIA CANDIDATE REGION ON HUMAN-CHROMOSOME-9 BY CDNA DIRECT SELECTION

      Biochemical medicine and metabolic biology
    65. SIRUGO G; DUCLOS F; FUJITA R; KEATS JB; PANDOLFO M; MANDEL JL; KOENIG M
      MAPPING THE FRIEDREICH ATAXIA LOCUS (FRDA) BY LINKAGE DISEQUILIBRIUM ANALYSIS WITH HIGHLY POLYMORPHIC MICROSATELLITES

      Biomedicine & pharmacotherapy
    66. CARELLA F; CIANO C; PANDOLFO M; GIOVANNINI P; GIROTTI F; CARACENI T
      SPASMODIC DYSTONIC LATEROCOLLIS IN FAMILIAL CEREBELLAR-ATAXIA

      Italian journal of neurological sciences
    67. EOLI M; PANDOLFO M; MILANESE C; GASPARINI P; SALMAGGI A; ZEVIANI M
      THE MYELIN BASIC-PROTEIN GENE IS NOT A MAJOR SUSCEPTIBILITY LOCUS FORMULTIPLE-SCLEROSIS IN ITALIAN PATIENTS

      Journal of neurology
    68. PAREYSON D; SGHIRLANZONI A; SCAIOLI V; CASTELLOTTI B; DIDONATO S; PANDOLFO M; LORENZETTI D; LUPSKI JR
      SUBMICROSCOPIC DELETION IN 17P11.2-P12 IN ITALIAN HNPP FAMILIES

      Neurology
    69. DEMICHELE G; FILLA A; CAVALCANTI F; DIMAIO L; PIANESE L; CASTALDO I; CALABRESE O; MONTICELLI A; VARRONE S; CAMPANELLA G; LEONE M; PANDOLFO M; COCOZZA S
      LATE-ONSET FRIEDREICHS-DISEASE - CLINICAL-FEATURES AND MAPPING OF MUTATION TO THE FRDA LOCUS

      Journal of Neurology, Neurosurgery and Psychiatry
    70. PIANESE L; COCOZZA S; CAMPANELLA G; CASTALDO I; CAVALCANTI F; DEMICHELE G; FILLA A; MONTICELLI A; MUNARO M; REDOLFI E; VARRONE S; PANDOLFO M
      LINKAGE DISEQUILIBRIUM BETWEEN FD1-D9S202 HAPLOTYPES AND THE FRIEDREICHS ATAXIA LOCUS IN A CENTRAL-SOUTHERN ITALIAN POPULATION

      Journal of Medical Genetics
    71. HAMIDA CB; DOERFLINGER N; BELAL S; LINDER C; REUTENAUER L; DIB C; GYAPAY G; VIGNAL A; LEPASLIER D; COHEN D; PANDOLFO M; MOKINI V; NOVELLI G; HENTATI F; BENHAMIDA M; MANDEL JL; KOENIG M
      LOCALIZATION OF FRIEDREICH ATAXIA PHENOTYPE WITH SELECTIVE VITAMIN-E-DEFICIENCY TO CHROMOSOME-8Q BY HOMOZYGOSITY MAPPING

      Nature genetics
    72. JODICE C; FRONTALI M; PERSICHETTI F; NOVELLETTO A; PANDOLFO M; SPADARO M; GIUNTI P; SCHINAIA G; LULLI P; MALASPINA P; PLASMATI R; TOLA R; ANTONELLI A; DIDONATO S; MOROCUTTI C; WEISSENBACH J; CANN HM; TERRENATO L
      THE GENE FOR SPINAL CEREBELLAR ATAXIA-1 (SCA1) IS FLANKED BY 2 CLOSELY LINKED HIGHLY POLYMORPHIC MICROSATELLITE LOCI

      Human molecular genetics
    73. PANDOLFO M; MUNARO M; COCOZZA S; REDOLFI EM; PIANESE L; CAVALCANTI F; MONTICELLI A; DIDONATO S
      A DINUCLEOTIDE REPEAT POLYMORPHISM (D9S202) IN THE FRIEDREICHS ATAXIAREGION ON CHROMOSOME-9Q13-Q21.1

      Human molecular genetics
    74. COCOZZA S; ANTONELLI A; CAMPANELLA G; CAVALCANTI F; DEMICHELE G; DIDONATO S; FILLA A; MONTICELLI A; PIANESE L; PICCINELLI A; PORCELLINI A; REDOLFI E; VARRONE S; PANDOLFO M
      EVIDENCE OF A GENETIC-MARKER ASSOCIATED WITH EARLY-ONSET IN FRIEDREICHS ATAXIA

      Journal of neurology
    75. PAREYSON D; DANGELO A; MANDICH P; PANDOLFO M; SGHIRLANZONI A
      ROUSSY-LEVY SYNDROME - A KINDRED WITH CHROMOSOME-17P11.2 DUPLICATION

      Neurology
    76. PALAU F; MONROS E; CANIZARES J; MOLTO MD; PANDOLFO M; DEFRUTOS R; PRIETOL F
      HOMOZYGOSITY MAPPING PLACES THE FRIEDREICHS ATAXIA GENE CENTROMERIC TO D9S5 LOCUS

      American journal of human genetics


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Documento generato il 21/10/20 alle ore 07:59:51