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    1. PANDELLI E.,BERTINI G.; CASTELLUCCI P.; MORELLI M.; MONECHI S.
      The sub-ligurian and Ligurian units of the Mt.Amiata geothermal region (south-eastern Tuscany):new stratigraphic and tectonic data and insights into their relationships with the Tuscan Nappe

      Bollettino della SocietÓ Geologica Italiana
    2. Grohmann, K; Schuelke, M; Diers, A; Hoffmann, K; Lucke, B; Adams, C; Bertini, E; Leonhardt-Horti, H; Muntoni, F; Ouvrier, R; Pfeufer, A; Rossi, R; Van Maldergem, L; Wilmshurst, JM; Wienker, TR; Sendtner, M; Rudnik-Schoneborn, S; Zerres, K; Hubner, C
      Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

      NATURE GENETICS
    3. Piemonte, F; Casali, C; Carrozzo, R; Schagger, H; Patrono, C; Tessa, A; Tozzi, G; Cricchi, F; Di Capua, M; Siciliano, G; Amabile, GA; Morocutti, C; Bertini, E; Santorelli, FM
      Respiratory chain defects in hereditary spastic paraplegias

      NEUROMUSCULAR DISORDERS
    4. Sabatelli, P; Bonaldo, P; Lattanzi, G; Braghetta, P; Bergamin, N; Capanni, C; Mattioli, E; Columbaro, M; Ognibene, A; Pepe, G; Bertini, E; Merlini, L; Maraldi, NM; Squarzoni, S
      Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

      MATRIX BIOLOGY
    5. Zhou, B; Bae, SK; Malone, AC; Levinson, BB; Kuo, YM; Cilio, MR; Bertini, E; Hayflick, SJ; Gitschier, JM
      hGFR alpha-4: A new member of the GDNF receptor family and a candidate forNBIA

      PEDIATRIC NEUROLOGY
    6. Salvi, S; Santorelli, FM; Bertini, E; Boldrini, R; Meli, C; Donati, A; Burlina, AB; Rizzo, C; Di Capua, M; Fariello, G; Dionisi-Vici, C
      Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

      NEUROLOGY
    7. Francalanci, P; Eymard-Pierre, E; Dionisi-Vici, C; Boldrini, R; Piemonte, F; Virgili, R; Fariello, G; Bosman, C; Santorelli, FM; Boespflug-Tanguy, O; Bertini, E
      Fatal infantile leukodystrophy - A severe variant of CACH/VWM syndrome, allelic to chromosome 3q27

      NEUROLOGY
    8. Carrozzo, R; Tessa, A; Vazquez-Memije, ME; Piemonte, F; Patrono, C; Malandrini, A; Dionisi-Vici, C; Vilarinho, L; Villanova, M; Schagger, H; Federico, A; Bertini, E; Santorelli, F
      The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

      NEUROLOGY
    9. Vanegas, OC; Bertini, E; Zhang, RZ; Petrini, S; Minosse, C; Sabatelli, P; Giusti, B; Chu, ML; Pepe, G
      Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    10. Piemonte, F; Pastore, A; Tozzi, G; Tagliacozzi, D; Santorelli, FM; Carrozzo, R; Casali, C; Damiano, M; Federici, G; Bertini, E
      Glutathione in blood of patients with Friedreich's ataxia

      EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
    11. Rodriguez, D; Gauthier, F; Bertini, E; Bugiani, M; Brenner, M; N'guyen, S; Goizet, C; Gelot, A; Surtees, R; Pedespan, JM; Hernandorena, X; Troncoso, M; Uziel, G; Messing, A; Ponsot, G; Pham-Dinh, D; Dautigny, A; Boespflug-Tanguy, O
      Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation

      AMERICAN JOURNAL OF HUMAN GENETICS
    12. Villanova, M; Mercuri, E; Bertini, E; Sabatelli, P; Morandi, L; Mora, M; Sewry, C; Brockington, M; Brown, SC; Ferreiro, A; Maraldi, NM; Toda, T; Guicheney, P; Merlini, L; Muntoni, F
      Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome

      NEUROMUSCULAR DISORDERS
    13. Santoro, L; Carrozzo, R; Malandrini, A; Piemonte, F; Patrono, C; Villanova, M; Tessa, A; Palmeri, S; Bertini, E; Santorelli, FM
      A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

      NEUROMUSCULAR DISORDERS
    14. Bruno, C; Bertini, E; Santorelli, FM; DiMauro, S
      HyperCKemia as the only sign of McArdle's disease in a child

      JOURNAL OF CHILD NEUROLOGY
    15. Ferreiro, A; Estournet, B; Chateau, D; Romero, NB; Laroche, C; Odent, S; Toutain, A; Cabello, A; Fontan, D; dos Santos, HG; Haenggeli, CA; Bertini, E; Urtizberea, JA; Guicheney, P; Fardeau, M
      Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases

      ANNALS OF NEUROLOGY
    16. Bertini, E; des Portes, V; Zanni, G; Santorelli, F; Dionisi-Vici, C; Vicari, S; Fariello, G; Chelly, J
      X-linked congenital ataxia: A clinical and genetic study

      AMERICAN JOURNAL OF MEDICAL GENETICS
    17. Patrono, C; Rizzo, C; Tessa, A; Giannotti, A; Borrelli, P; Carrozzo, R; Piemonte, F; Bertini, E; Dionisi-Vici, C; Santorelli, FM
      Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    18. Rizzo, C; Bertini, E; Piemonte, F; Leuzzi, V; Sabetta, G; Federici, G; Luchetti, A; Dionisi-Vici, C
      Oxidative abnormalities in Menkes disease

      JOURNAL OF INHERITED METABOLIC DISEASE
    19. Camassei, FD; Jenkner, A; Bertini, E; Bosman, C; Donfrancesco, A; Boldrini, R
      Pierre Robin syndrome and Wilms tumor: An unusual association

      MEDICAL AND PEDIATRIC ONCOLOGY
    20. Santorelli, FM; Patrono, C; Fortini, D; Tessa, A; Comanducci, G; Bertini, E; Pierallini, A; Amabile, GA; Casali, C
      Intrafamilial variability in hereditary spastic paraplegia associated withan SPG4 gene mutation

      NEUROLOGY
    21. Leuzzi, V; Rinna, A; Gallucci, M; Di Capua, M; Dionisi-Vici, C; Longo, D; Bertini, E
      Ataxia, deafness, leukodystrophy: Inherited disorder of the white matter in three related patients

      NEUROLOGY
    22. Santorelli, FM; Piemonte, F; Carrozzo, R; Tessa, A; Patrono, C; Tozzi, G; Bertini, E
      OXPHOS and mtDNA alterations in a family with spastic paraparesis

      ACTA NEUROLOGICA SCANDINAVICA
    23. Pepe, G; Bertini, E; Giusti, B; Brunelli, T; Comeglio, P; Saitta, B; Merlini, L; Chu, ML; Federici, G; Abbate, R
      A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

      NEUROMUSCULAR DISORDERS
    24. Perusi, C; Gomez-Lira, M; Mottes, M; Pignatti, PF; Bertini, E; Cappa, M; Vigliani, MC; Schiffer, D; Rizzuto, N; Salviati, A
      Two novel missense mutations causing adrenoleukodystrophy in Italian patients

      MOLECULAR AND CELLULAR PROBES
    25. Restuccia, D; Di Lazzaro, V; Valeriani, M; Oliviero, A; Le Pera, D; Barba, C; Cappa, M; Bertini, E; Di Capua, M; Tonali, P
      Neurophysiologic follow-up of long-term dietary treatment in adult-onset adrenoleukodystrophy

      NEUROLOGY
    26. Pepe, G; Giusti, B; Bertini, E; Brunelli, T; Saitta, B; Comeglio, P; Bolognese, A; Merlini, L; Federici, G; Abbate, R; Chu, ML
      A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha 1(VI) collagen chain in an Italian family affected by Bethlem myopathy

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    27. De Luca, A; Torrente, I; Mangino, M; Bertini, E; Dallapiccola, B; Novelli, G
      A novel mutation (R27 1X) in the myotubularin gene causes a severe miotubular myopathy

      HUMAN HEREDITY
    28. MATTHIJS G; SCHOLLEN E; SAUDUBRAY JM; DELONLAY P; DIONISIVICI C; BERTINI E; HENRI H; CASSIMAN JJ; JAEKEN J; VANSCHAFTINGEN E
      IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER

      European journal of human genetics
    29. Di Biase, A; Salvati, S; Avellino, C; Cappa, M; Bertini, E; Moroni, I; Rimoldi, M; Uziel, G
      X-linked adrenoleukodystrophy: first report of the Italian Study Group

      ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES
    30. LEUZZI V; RINNA A; GALLUCCI M; DIONISIVICI C; BERTINI E
      ATAXIA-DEAFNESS-LEUKODYSTROPHY - A NEW INHERITED DISORDER OF THE WHITE-MATTER

      Annals of neurology
    31. DIONISIVICI C; SENECA S; ZEVIANI M; FARIELLO G; RIMOLDI M; BERTINI E; DEMEIRLEIR L
      FULMINANT LEIGH-SYNDROME AND SUDDEN UNEXPECTED DEATH IN A FAMILY WITHTHE T9176C MUTATION OF THE MITOCHONDRIAL ATPASE-6-GENE

      Journal of inherited metabolic disease
    32. MIRABELLA M; GALLUZZI G; MANFREDI G; BERTINI E; RICCI E; DELEO R; TONALI P; SERVIDEI S
      GIANT DYSTROPHIN DELETION ASSOCIATED WITH CONGENITAL CATARACT AND MILD MUSCULAR-DYSTROPHY

      Neurology
    33. SANTORELLI FM; BERTINI E; PETRUZZELLA V; DICAPUA M; CALVIERI S; GASPARINI P; ZEVIANI M
      A NOVEL INSERTION MUTATION (A(169I)) IN THE CLN1 GENE IS ASSOCIATED WITH INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS IN AN ITALIAN PATIENT

      Biochemical and biophysical research communications
    34. JAEKEN J; MATTHIJS G; SAUDUBRAY JM; DIONISIVICI C; BERTINI E; DELONLAY P; HENRI H; CARCHON H; SCHOLLEN E; VANSCHAFTINGEN E
      PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION

      American journal of human genetics
    35. Tiranti, V; Hoertnagel, K; Carrozzo, R; Galimberti, C; Munaro, M; Granatiero, M; Zelante, L; Gasparini, P; Marzella, R; Rocchi, M; Bayona-Bafaluy, MP; Enriquez, JA; Uziel, G; Bertini, E; Dionisi-Vici, C; Franco, B; Meitinger, T; Zeviani, M
      Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

      AMERICAN JOURNAL OF HUMAN GENETICS
    36. 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
    37. LAPORTE J; GUIRAUDCHAUMEIL C; VINCENT MC; MANDEL JL; TANNER SM; LIECHTIGALLATI S; WALLGRENPETTERSSON C; DAHL N; KRESS W; BOLHUIS PA; FARDEAU M; SAMSON F; BERTINI E
      MUTATIONS IN THE MTM1 GENE IMPLICATED IN X-LINKED MYOTUBULAR MYOPATHY

      Human molecular genetics
    38. DIBIASE A; PAVONE L; SALVATI S; BERTINI E; UZIEL G
      EARLY DIAGNOSIS OF ADRENOLEUKODYSTROPHY

      Rivista italiana di pediatria
    39. DIONISIVICI C; RUITENBEEK W; FARIELLO G; BENTLAGE H; WANDERS RJA; SCHAGGER H; BOSMAN C; PIANTADOSI C; SABETTA G; BERTINI E
      NEW FAMILIAL MITOCHONDRIAL ENCEPHALOPATHY WITH MACROCEPHALY, CARDIOMYOPATHY, AND COMPLEX-I DEFICIENCY

      Annals of neurology
    40. MIMAULT C; COURTOIS V; GIRAUD G; BERTINI E; BAETHMANN M; FONTAN D; UZIEL G; VOIT T; BERNARD I; CAILLOUX F; BOESPFLUGTANGUY O
      DEVELOPMENTAL DEFECT OF MYELINATION RESULTING FROM PROTEOLIPID PROTEIN MUTATION IN HEREDITARY SPASTIC PARAPLEGIA OF CHILDHOOD

      Annals of neurology
    41. BERTINI E; DESPORTES V; VICARI S; VICI CD; FARIELLO G; PIANTADOSI C; CHELLY J
      CONGENITAL X-LINKED NONPROGRESSIVE ATAXIA - LINKAGE STUDIES IN A 2ND-FAMILY

      Annals of neurology
    42. CILIO MR; BERTINI E; SABATELLI M; DEARMAS L; AXELROD F
      CONGENITAL PANNEUROPATHY WITH CENTRAL-NERVOUS-SYSTEM INVOLVEMENT

      Annals of neurology
    43. DICAPUA M; CUSMAI R; BARTULI A; FRAIOLI L; BERTINI E
      MOTOR AND SOMATOSENSORY-EVOKED POTENTIALS IN UNCOMPLICATED HEREDITARYSPASTIC PARAPLEGIA PRESENTING IN CHILDHOOD

      Annals of neurology
    44. SILVESTRI G; BERTINI E; SERVIDEI S; RANA M; ZACHARA E; RICCI E; TONALI P
      MATERNALLY INHERITED CARDIOMYOPATHY - A NEW PHENOTYPE ASSOCIATED WITHTHE A TO G AT NT.3243 OF MITOCHONDRIAL-DNA (MELAS MUTATION)

      Muscle & nerve
    45. RESTUCCIA D; DILAZZARO V; VALERIANI M; OLIVIERO A; LEPERA D; BARBA C; CAPPA M; BERTINI E; TONALI P
      ABNORMALITIES OF SOMATOSENSORY AND MOTOR EVOKED-POTENTIALS IN ADRENOMYELONEUROPATHY - COMPARISON WITH MAGNETIC-RESONANCE-IMAGING AND CLINICAL FINDINGS

      Muscle & nerve
    46. BATTAGLIA A; GURRIERI F; BERTINI E; BELLACOSA A; POMPONI MG; PARAVATOUPETSOTAS M; MAZZA S; NERI G
      THE INV DUP(15) SYNDROME - A CLINICALLY RECOGNIZABLE SYNDROME WITH ALTERED BEHAVIOR, MENTAL-RETARDATION, AND EPILEPSY

      Neurology
    47. SERVIDEI S; SPINAZZOLA A; BERTINI E; DEROSA G; SILVESTRI G; ODOARDI F; RICCI E; TONALI P
      GENOTYPE-PHENOTYPE CORRELATION IN ITALIAN PATIENTS AFFECTED BY ACID MALTASE DEFICIENCY (GLYCOGEN-STORAGE-DISEASE TYPE-II GSD-II)

      Neurology
    48. RESTUCCIA D; DILAZZARO V; VALERIANI M; OLIVIERO A; LEPERA D; COLOSIMO C; BURDI N; CAPPA M; BERTINI E; DIBIASE A; TONALI P
      NEUROPHYSIOLOGICAL ABNORMALITIES IN ADRENOLEUKODYSTROPHY CARRIERS - EVIDENCE OF DIFFERENT DEGREES OF CENTRAL-NERVOUS-SYSTEM INVOLVEMENT

      Brain
    49. SANTORELLI F; BERTINI E; PETRUZZELLA V; DICAPUA M; GASPARINI P; ZEVIANI M
      IDENTIFICATION OF A NOVEL MUTATION OF THE CNL1 GENE LEADING TO INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS IN AN ITALIAN PATIENT

      American journal of human genetics
    50. 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
    51. BRAHE C; BERTINI E
      SPINAL MUSCULAR ATROPHIES - RECENT INSIGHTS AND IMPACT ON MOLECULAR DIAGNOSIS

      Journal of molecular medicine
    52. CUSMAI R; FUSCO L; BERTINI E; VIGEVANO F
      ELECTRICAL STATUS EPILEPTICUS DURING SLEEP CAN MIMIC A PROGRESSIVE NEUROLOGICAL DISORDER

      Annals of neurology
    53. DESPORTES V; BACHNER L; BRULS T; BELDJORD C; BILLUART P; SOUFIR N; BIENVENU T; VINET MC; MALASPINA E; MARCHIANI V; BERTINI E; KAHN A; FRANZONI E; CHELLY J
      X-LINKED NEURODEGENERATIVE SYNDROME WITH CONGENITAL ATAXIA, LATE-ONSET PROGRESSIVE MYOCLONIC ENCEPHALOPATHY AND SELECTIVE MACULAR DEGENERATION, LINKED TO XP22.33-PTER

      American journal of medical genetics
    54. CARUSO U; ADAMI A; BERTINI E; BURLINA AB; CARNEVALE F; CERONE R; DIONISIVICI C; GIORDANO G; LEUZZI E; PARENTI G; SAVASTA S; UZIEL G; ZEVIANI M
      RESPIRATORY-CHAIN AND PYRUVATE METABOLISM DEFECTS - ITALIAN COLLABORATIVE SURVEY ON 72 PATIENTS

      Journal of inherited metabolic disease
    55. RICCI E; BROCCOLINI A; SILVESTRI G; SERVIDEI S; RANA M; BERTINI E; TONALI P
      MULTIPLE MITOCHONDRIAL-DNA DELETIONS CAN BE DETECTED BY IN-SITU HYBRIDIZATION IN AUTOSOMAL-DOMINANT CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH NEGATIVE SOUTHERN BLOT

      Neurology
    56. BERTINI E; PIANTADOSI C; SILVESTRI G; SPINAZZOLA A; RANA M; DEROSA G; TONALI P; SERVIDEI S
      A T8993C MUTATION IN THE MITOCHONDRIAL ATPASE-6 GENE WITH RAPID SEGREGATION RESULTING IN A HETEROGENEOUS PHENOTYPE IN A FAMILY

      Neurology
    57. DIONISIVICI C; GARAVAGLIA B; BURLINA AB; BERTINI E; SAPONARA I; SABETTA G; TARONI F
      HYPOPARATHYROIDISM IN MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY

      The Journal of pediatrics
    58. FOUAD GT; SERVIDEI S; DURCAN S; BERTINI E; PTACEK LJ
      A GENE FOR FAMILIAL PAROXYSMAL DYSKINESIA (FPD1) MAPS TO CHROMOSOME 2Q

      American journal of human genetics
    59. DICAPUA M; BERTINI E
      REMISSION IN DIHYDROXYPHENYLALANINE-RESPONSIVE DYSTONIA

      Movement disorders
    60. BERTINI E; ZAPPATA S; SERVIDEI S; PIANTADOSI C; RICCI E; CUSMAI R; TONALI P; NERI G; BRAHE C
      DELETION ANALYSIS OF THE SURVIVAL MOTOR-NEURON GENE - CONFIRMATION OFA POWERFUL DIAGNOSTIC-TOOL IN CHILDHOOD PROXIMAL SPINAL MUSCULAR-ATROPHY

      Annals of neurology
    61. DIONISIVICI C; GARAVAGLIA B; BURLINA A; BERTINI E; WANDERS RJA; HASHIMOTO T; SABETTA G; INVERNIZZI F; TARONI F; DIDONATO S
      MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY - CLINICAL AND BIOCHEMICAL FINDINGS IN POUR PATIENTS

      Annals of neurology
    62. BRAHE C; ZAPPATA S; BERTINI E
      PRESYMPTOMATIC DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY (SMA)-III CONFIRMED BY DELETION ANALYSIS OF THE SURVIVAL MOTOR-NEURON GENE

      American journal of medical genetics
    63. DIONISIVICI C; SAPONARA I; BURLINA AB; GARAVAGLIA B; DIDONATO S; PICCA S; BERTINI E; SABETTA G
      MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY AND HYPOPARATHYROIDISM

      Pediatric research
    64. RICCI E; SILVESTRI G; SERVIDEI S; SPINAZZOLA A; BROCCOLINI A; RANA M; BERTINI E; TONALI P
      RRFS IN INFLAMMATORY MYOPATHIES ARE ASSOCIATED WITH MULTIPLE DELETIONS AND DEPLETIONS OF MITOCHONDRIAL-DNA (MTDNA)

      Neurology
    65. SABATELLI M; MIGNOGNA T; LIPPI G; MILONE M; DILAZZARO V; TONALI P; BERTINI E
      INTERFERON-ALPHA MAY BENEFIT STEROID UNRESPONSIVE CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY

      Journal of Neurology, Neurosurgery and Psychiatry
    66. CUSMAI R; BERTINI E; PIANTADOSI C; VIGEVANO F
      ASSOCIATION OF PROGRESSIVE MYOCLONIC EPILEPSY AND SPINAL MUSCULAR-ATROPHY - A CASE-REPORT

      Epilepsia
    67. CAPPA M; BERTINI E; CAMBIASO P; DELBALZO P; DICAPUA M; MILANI L; BARDELLI P; RIMOLDI M; UZIEL G
      ADRENOLEUKODYSTROPHY - CLINICAL AND THERA PEUTIC ASPECTS IN THE ITALIAN EXPERIENCE

      Rivista italiana di pediatria
    68. CUSMAI R; BERTINI E; DICAPUA M; RICCI S; VIGEVANO F; MILANI L; FARIELLO G
      BILATERAL, REVERSIBLE, SELECTIVE THALAMIC INVOLVEMENT DEMONSTRATED BYBRAIN MR AND ACUTE SEVERE NEUROLOGICAL DYSFUNCTION WITH FAVORABLE OUTCOME

      Neuropediatrics
    69. BARBIERI MA; SOSA MA; COUSO R; IELPI L; MERELLO S; TONN CE; BERTINI E
      AFFINITY SITES FOR N-ACETYL-BETA-D-GLUCOSAMINIDASE ON THE SURFACE OF RAT EPIDIDYMAL SPERMATOZOA

      International journal of andrology
    70. DIONISIVICI C; BERTINI E; SABETTA G; SAPONARA I; SERVIDEI S; BENNETT MJ; BURLINA AB
      A NOVEL MITOCHONDRIAL ENCEPHALOPATHY OCULOPATHY CARDIOPATHY MYOPATHY WITH ABNORMAL ORGANIC ACIDURIA AND COMBINED COMPLEX-1 AND COMPLEX-IV RESPIRATORY-CHAIN ENZYME DEFICIENCY

      Pediatric research
    71. BURLINA AB; DIONISIVICI C; BENNETT MJ; GIBSON KM; SERVIDEI S; BERTINI E; HALE DE; SCHMIDTSOMMERFELD E; SABETTA G; ZACCHELLO F; RINALDO P
      A NEW SYNDROME WITH ETHYLMALONIC ACIDURIA AND NORMAL FATTY-ACID OXIDATION IN FIBROBLASTS

      The Journal of pediatrics
    72. CAPPA M; BERTINI E; DELBALZO P; CAMBIASO P; DIBIASE A; SALVATI S
      HIGH-DOSE IMMUNOGLOBULIN IV TREATMENT IN ADRENOLEUKODYSTROPHY

      Journal of Neurology, Neurosurgery and Psychiatry
    73. CAPPA M; BERTINI E; DELBALZO P; CAMBIASO P; DIBIASE A; SALVATI S
      HIGH-DOSE IMMUNOGLOBULIN IV TREATMENT IN ADRENOLEUKODYSTROPHY - DISCUSSION

      Journal of Neurology, Neurosurgery and Psychiatry
    74. BOESPFLUGTANGUY O; MIMAULT C; MELKI J; CAVAGNA A; GIRAUD G; DINH DP; DASTUGUE B; DAUTIGNY A; AICARDI J; GOUTTIERES F; BAUMANN N; BERTINI E; DAVID A; HENOCQ A; LANDRIEU P; TARDIEU M; LEBERRE C; LEMAREC B; LYON G; MAYER M; PINARD JM; PONSOT G; MATHIEU M; SAINTIVE JP; SAURA R; VALLEE L
      GENETIC HOMOGENEITY OF PELIZAEUS-MERZBACHER-DISEASE - TIGHT LINKAGE TO THE PROTEOLIPOPROTEIN LOCUS IN 16 AFFECTED FAMILIES

      American journal of human genetics
    75. SABATELLI M; MIGNOGNA T; LIPPI G; SERVIDEI S; MANFREDI G; RICCI E; BERTINI E; LOMONACO M; TONALI P
      AUTOSOMAL RECESSIVE HYPERMYELINATING NEUROPATHY

      Acta Neuropathologica
    76. BERTINI E; SALVIATI G; APOLLO F; RICCI E; SERVIDEI S; BROCCOLINI A; PAPACCI M; TONALI P
      REDUCING BODY MYOPATHY AND DESMIN STORAGE IN SKELETAL-MUSCLE - MORPHOLOGICAL AND BIOCHEMICAL FINDINGS

      Acta Neuropathologica
    77. COSTA A; ZOPPETTI G; BENEDETTO C; BERTINO E; MAROZIO L; FABRIS C; ARISIO R; GIRAUDI GF; TESTORI O; ARIANO M; MAULA V; BERTINI E
      IMMUNO-LIKE GROWTH-HORMONE SUBSTANCE IN TISSUES FROM HUMAN EMBRYOS FETUSES AND ADULTS

      Journal of endocrinological investigation
    78. BERTINI E; BOSMAN C; SALVIATI G; BOLDRINI R; SERVIDEI S; RICCI E; DELNONNO F; GAGLIARDI MG; BEVILACQUA M
      MYOPATHY AND HYPERTROPHIC CARDIOMYOPATHY WITH SELECTIVE LYSIS OF THICK FILAMENTS

      Virchows Archiv. A. Pathological anatomy and histology
    79. SERVIDEI S; MANFREDI G; MIRABELLA M; GALLUZZI G; BERTINI E; RICCI E; TONALI P
      FAMILIAL HYPERCALCEMIA CAN BE A VARIANT OF BECKER MUSCULAR-DYSTROPHY

      Neurology
    80. MIRABELLA M; SERVIDEI S; MANFREDI G; RICCI E; FRUSTACI A; BERTINI E; RANA M; TONALI P
      CARDIOMYOPATHY MAY BE THE ONLY CLINICAL MANIFESTATION IN FEMALE CARRIERS OF DUCHENNE MUSCULAR-DYSTROPHY

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ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 01:08:18