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La ricerca find articoli where soggetti phrase all words 'SPINAL MUSCULAR-ATROPHY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 531 riferimenti
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    1. Hand, CK; Khoris, J; Salachas, F; Gros-Louis, F; Lopes, AAS; Mayeux-Portas, V; Brown, RH; Meininger, V; Camu, W; Rouleau, GA
      A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q

      AMERICAN JOURNAL OF HUMAN GENETICS
    2. Vestergaard, P; Glerup, H; Steffensen, BF; Rejnmark, L; Rahbek, J; Mosekilde, L
      Fracture risk in patients with muscular dystrophy and spinal muscular atrophy

      JOURNAL OF REHABILITATION MEDICINE
    3. Ogino, S; Leonard, DGB; Rennert, H; Gao, SZ; Wilson, RB
      Heteroduplex formation in SMN gene dosage analysis

      JOURNAL OF MOLECULAR DIAGNOSTICS
    4. Ogino, S
      A method to compensate for different amplification efficiencies

      JOURNAL OF MOLECULAR DIAGNOSTICS
    5. Wells, D; Delhanty, JDA
      Preimplantation genetic diagnosis: applications for molecular medicine

      TRENDS IN MOLECULAR MEDICINE
    6. Dredge, BK; Polydorides, AD; Darnell, RB
      The splice of life: Alternative splicing and neurological disease

      NATURE REVIEWS NEUROSCIENCE
    7. Beck, M; Karch, C; Wiese, S; Sendtner, M
      Motoneuron cell death and neurotrophic factors: Basic models for development of new therapeutic strategies in ALS

      AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS
    8. Matera, AG; Hebert, MD
      The survival motor neurons protein uses its ZPR for nuclear localization

      NATURE CELL BIOLOGY
    9. Meister, G; Buhler, D; Pillai, R; Lottspeich, F; Fischer, U
      A multiprotein complex mediates the ATP-dependent assembly of spliceosomalU snRNPs

      NATURE CELL BIOLOGY
    10. von Gontard, A; Laufersweiler-Plass, C; Backes, M; Zerres, K; Rudnik-Schoneborn, S
      Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy

      BJU INTERNATIONAL
    11. Mullauer, L; Gruber, P; Sebinger, D; Buch, J; Wohlfart, S; Chott, A
      Mutations in apoptosis genes: a pathogenetic factor for human disease

      MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
    12. McEleny, KR; Watson, RWG; Fitzpatrick, JM
      Defining a role for the inhibitors of apoptosis proteins in prostate cancer

      PROSTATE CANCER AND PROSTATIC DISEASES
    13. Daniels, G; Pettigrew, R; Thornhill, A; Abbs, S; Lashwood, A; O'Mahony, F; Mathew, C; Handyside, A; Braude, P
      Six unaffected livebirths following preimplantation diagnosis for spinal muscular atrophy

      MOLECULAR HUMAN REPRODUCTION
    14. Brahms, H; Meheus, L; De Brabandere, V; Fischer, U; Luhrmann, R
      Symmetrical dimethylation of arginine residues in spliceosomal Sm protein B/B ' and the Sm-like protein LSm4, and their interaction with the SMN protein

      RNA-A PUBLICATION OF THE RNA SOCIETY
    15. Dietrich, WF
      Using mouse genetics to understand infectious disease pathogenesis

      GENOME RESEARCH
    16. MacKenzie, AE; Gendron, NH
      Tudor reign

      NATURE STRUCTURAL BIOLOGY
    17. Selenko, P; Sprangers, R; Stier, G; Buhler, D; Fischer, U; Sattler, M
      SMN Tudor domain structure and its interaction with the Sm proteins

      NATURE STRUCTURAL BIOLOGY
    18. Tews, DS
      Role of nitric oxide and nitric oxide synthases in experimental models of denervation and reinnervation

      MICROSCOPY RESEARCH AND TECHNIQUE
    19. Lebo, RV; Maher, T; Farrer, L; Fenerci, EY; Milunsky, JM
      Highly polymorphic short tandem repeat analyses clarify complex molecular test results

      DIAGNOSTIC MOLECULAR PATHOLOGY
    20. Bordet, T; Castelnau-Ptakhine, L; Fauchereau, F; Friocourt, G; Kahn, A; Haase, G
      Neuronal targeting of cardiotrophin-1 by coupling with tetanus toxin C fragment

      MOLECULAR AND CELLULAR NEUROSCIENCE
    21. Thomson, JA; Seymour, JF; Wolf, M
      Hodgkin's disease complicated by the nephrotic syndrome in a man with Kugelberg-Welander disease

      LEUKEMIA & LYMPHOMA
    22. Haider, MZ; Moosa, A; Dalal, H; Habib, Y; Reynold, L
      Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes

      JOURNAL OF BIOMEDICAL SCIENCE
    23. Sossi, V; Giuli, A; Vitali, T; Tiziano, F; Mirabella, M; Antonelli, A; Neri, G; Brahe, C
      Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype

      EUROPEAN JOURNAL OF HUMAN GENETICS
    24. Cho, K; Ryu, K; Lee, E; Won, S; Kim, J; Yoo, OJ; Hahn, S
      Correlation between genotype and phenotype in Korean patients with spinal muscular atrophy

      MOLECULES AND CELLS
    25. Cisterni, C; Kallenbach, S; Jordier, F; Bagnis, C; Pettmann, B
      Death of motoneurons induced by trophic deprivation or by excitotoxicity is not prevented by overexpression of SMN

      NEUROBIOLOGY OF DISEASE
    26. Zhang, ML; Lorson, CL; Androphy, EJ; Zhou, J
      An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA

      GENE THERAPY
    27. Laggerbauer, B; Ostareck, D; Keidel, EM; Ostareck-Lederer, A; Fischer, U
      Evidence that fragile X mental retardation protein is a negative regulatorof translation

      HUMAN MOLECULAR GENETICS
    28. DiDonato, CJ; Lorson, CL; De Repentigny, Y; Simard, L; Chartrand, C; Androphy, EJ; Kothary, R
      Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing

      HUMAN MOLECULAR GENETICS
    29. Terns, MP; Terns, RM
      Macromolecular complexes: SMN - the master assembler

      CURRENT BIOLOGY
    30. Pellizzoni, L; Baccon, J; Charroux, B; Dreyfuss, G
      The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1

      CURRENT BIOLOGY
    31. Rowin, J; Meriggioli, MN; Cochran, EJ
      Monomelic amyotrophy with late progression

      NEUROMUSCULAR DISORDERS
    32. Souka, AP; Krampl, E; Bakalis, S; Heath, V; Nicolaides, KH
      Outcome of pregnancy in chromosomally normal fetuses with increased nuchaltranslucency in the first trimester

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    33. Rahman, T; Ramanathan, R; Stroud, S; Sample, W; Seliktar, R; Harwin, W; Alexander, M; Scavina, M
      Towards the control of a powered orthosis for people with muscular dystrophy

      PROCEEDINGS OF THE INSTITUTION OF MECHANICAL ENGINEERS PART H-JOURNAL OF ENGINEERING IN MEDICINE
    34. Inohara, N; Nunez, G
      The NOD: a signaling module that regulates apoptosis and host defense against pathogens

      ONCOGENE
    35. Lesca, G; Ollagnon-Roman, E; Lachanat, J; Dusser, A; Edery, P; Jeanpierre, M; Plauchu, H
      Problems in the diagnosis and implications in genetic counseling for a family affected by two distinct neuromuscular disorders.

      ARCHIVES DE PEDIATRIE
    36. Landrieu, P
      Fetal immobility syndrome - Warning sings in etiopathogenic diagnosis

      ARCHIVES DE PEDIATRIE
    37. Wong, PC; Cai, HB; Borchelt, DR; Price, DL
      Genetically engineered models relevant to neurodegenerative disorders - Their value for understanding disease mechanisms and designing/testing experimental therapeutics

      JOURNAL OF MOLECULAR NEUROSCIENCE
    38. Green, SL; Bouley, DM; Pinter, MJ; Cork, LC; Vatassery, GT
      Canine motor neuron disease: Clinicopathologic features and selected indicators of oxidative stress

      JOURNAL OF VETERINARY INTERNAL MEDICINE
    39. Manaligod, JM; Skaggs, J; Smith, RJH
      Localization of the gene for familial laryngeal abductor paralysis to chromosome 6q16

      ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY
    40. Takeuchi, Y; Takano, T; Abe, J; Takikita, S; Ohno, M
      Thyrotropin-releasing hormone: role in the treatment of West syndrome and related epileptic encephalopathies

      BRAIN & DEVELOPMENT
    41. Tran, TD; Kroepfl, T; Saito, M; Nagura, M; Ichiseki, H; Kubota, M; Toda, T; Sakakihara, Y
      The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy

      BRAIN & DEVELOPMENT
    42. Jin, KL; Mao, XO; Eshoo, MW; Nagayama, T; Minami, M; Simon, RP; Greenberg, DA
      Microarray analysis of hippocampal gene expression in global cerebral ischemia

      ANNALS OF NEUROLOGY
    43. Skordis, LA; Dunckley, MG; Burglen, L; Campbell, L; Talbot, K; Patel, S; Melki, J; Davies, KE; Dubowitz, V; Muntoni, F
      Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA

      HUMAN GENETICS
    44. Cusco, I; Barcelo, MJ; del Rio, E; Martin, Y; Hernandez-Chico, C; Bussaglia, E; Baiget, M; Tizzano, EF
      Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases

      HUMAN GENETICS
    45. Rochette, CF; Gilbert, N; Simard, LR
      SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens

      HUMAN GENETICS
    46. Van den Berg-Vos, RM; Van den Berg, LH; Jansen, GH; Parton, M; Shaw, CE; Hesseling-Janssen, ALW; Wokke, JHJ
      Hereditary pure lower motor neuron disease with adult onset and rapid progression

      JOURNAL OF NEUROLOGY
    47. Ishihara, H; Kanda, F; Nishio, H; Sumino, K; Chihara, K
      Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy

      JOURNAL OF NEUROLOGY
    48. Grabowski, PJ; Black, DL
      Alternative RNA splicing in the nervous system

      PROGRESS IN NEUROBIOLOGY
    49. Verma, A; Bradley, WG
      Atypical motor neuron disease and related motor syndromes

      SEMINARS IN NEUROLOGY
    50. Talbot, K; Davies, KE
      Spinal muscular atrophy

      SEMINARS IN NEUROLOGY
    51. Friesen, WJ; Paushkin, S; Wyce, A; Massenet, S; Pesiridis, GS; Van Duyne, G; Rappsilber, J; Mann, M; Dreyfuss, G
      The methylosome, a 20S complex containing JBP1 and pICln, produces dimethylarginine-modified Sm proteins

      MOLECULAR AND CELLULAR BIOLOGY
    52. Capano, CP; Pernas-Alonso, R; di Porzio, U
      Neurofilament homeostasis and motoneurone degeneration

      BIOESSAYS
    53. Meister, G; Hannus, S; Plottner, O; Baars, T; Hartmann, E; Fakan, S; Laggerbauer, B; Fischer, U
      SMNrp is an essential pre-mRNA splicing factor required for the formation of the mature spliceosome

      EMBO JOURNAL
    54. Mourelatos, Z; Abel, L; Yong, JS; Kataoka, N; Dreyfuss, G
      SMN interacts with a novel family of hnRNP and spliceosomal proteins

      EMBO JOURNAL
    55. Moutou, C; Gardes, N; Rongieres, C; Ohl, J; Bettahar-Lebugle, K; Wittemer, C; Gerlinger, P; Viville, S
      Allele-specific amplification for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy

      PRENATAL DIAGNOSIS
    56. Finegold, AA; Perez, FM; Iadarola, MJ
      In vivo control of NMDA receptor transcript level in motoneurons by viral transduction of a short antisense gene

      MOLECULAR BRAIN RESEARCH
    57. Srivastava, S; Mukherjee, M; Panigrahi, I; Pandey, GS; Pradhan, S; Mittal, B
      SMN2-Deletion in childhood-onset spinal muscular atrophy

      AMERICAN JOURNAL OF MEDICAL GENETICS
    58. Galea, V; Fehlings, D; Kirsch, S; McComas, A
      Depletion and sizes of motor units in spinal muscular atrophy

      MUSCLE & NERVE
    59. Schoser, BGH; Wehling, S; Blottner, D
      Cell death and apoptosis-related proteins in muscle biopsies of sporadic amyotrophic lateral sclerosis and polyneuropathy

      MUSCLE & NERVE
    60. Wilmshurst, JM; Bye, A; Rittey, C; Adams, C; Hahn, AF; Ramsay, D; Pamphlett, R; Pollard, JD; Ouvrier, R
      Severe infantile axonal neuropathy with respiratory failure

      MUSCLE & NERVE
    61. Snijders, R
      First-trimester ultrasound

      CLINICS IN PERINATOLOGY
    62. Huppertz, B; Tews, DS; Kaufmann, P
      Apoptosis and syncytial fusion in human placental trophoblast and skeletalmuscle

      INTERNATIONAL REVIEW OF CYTOLOGY - A SURVEY OF CELL BIOLOGY, VOL 205
    63. Andersen, PM
      Genetics of amyotrophic lateral sclerosis

      ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA
    64. Orrell, RW; Figlewicz, DA
      Clinical implications of the genetics of ALS and other motor neuron diseases

      NEUROLOGY
    65. Sciacco, M; Fagiolari, G; Lamperti, C; Messina, S; Bazzi, P; Napoli, L; Chiveri, L; Prelle, A; Comi, GP; Bresolin, N; Scarlato, G; Moggio, M
      Lack of apoptosis in mitochondrial encephalomyopathies

      NEUROLOGY
    66. Veldink, JH; van den Berg, LH; Cobben, JM; Stulp, RP; De Jong, JMBV; Vogels, OJ; Baas, F; Wokke, JHJ; Scheffer, H
      Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

      NEUROLOGY
    67. Voss, MD; Hille, A; Barth, S; Spurk, A; Hennrich, F; Holzer, D; Mueller-Lantzsch, N; Kremmer, E; Grasser, FA
      Functional cooperation of Epstein-Barr virus nuclear antigen 2 and the survival motor neuron protein in transactivation of the viral LMP1 promoter

      JOURNAL OF VIROLOGY
    68. Miller, RG; Moore, DH; Dronsky, V; Bradley, W; Barohn, R; Bryan, W; Prior, TW; Gelinas, DF; Iannaccone, S; Kissel, J; Leshner, R; Mendell, J; Mendoza, M; Russmann, B; Samaha, F; Smith, S
      A placebo-controlled trial of gabapentin in spinal muscular atrophy

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    69. Tsai, CH; Jong, YJ; Hu, CJ; Chen, CM; Shih, MC; Chang, CP; Chang, JG
      Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    70. Saugier-Veber, P; Drouot, N; Lefebvre, S; Charbonnier, F; Vial, E; Munnich, A; Frebourg, T
      Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

      JOURNAL OF MEDICAL GENETICS
    71. Martin, LJ; Kaiser, A; Yu, JW; Natale, JE; Al-Abdulla, NA
      Injury-induced apoptosis of neurons in adult brain is mediated by p53-dependent and p53-independent pathways and requires Bax

      JOURNAL OF COMPARATIVE NEUROLOGY
    72. Pena, E; Berciano, MT; Fernandez, R; Ojeda, JL; Lafarga, M
      Neuronal body size correlates with the number of nucleoli and cajal bodies, and with the organization of the splicing machinery in rat trigeminal ganglion neurons

      JOURNAL OF COMPARATIVE NEUROLOGY
    73. Silke, J; Vaux, DL
      Two kinds of BIR-containing protein - inhibitors of apoptosis, or requiredfor mitosis

      JOURNAL OF CELL SCIENCE
    74. Cifuentes-Diaz, C; Frugier, T; Tiziano, FD; Lacene, E; Roblot, N; Joshi, V; Moreau, MH; Melki, J
      Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy

      JOURNAL OF CELL BIOLOGY
    75. Pellizzoni, L; Charroux, B; Rappsilber, J; Mann, M; Dreyfuss, G
      A functional interaction between the survival motor neuron complex and RNApolymerase II

      JOURNAL OF CELL BIOLOGY
    76. Wang, J; Dreyfuss, G
      Characterization of functional domains of the SMN protein in vivo

      JOURNAL OF BIOLOGICAL CHEMISTRY
    77. Lim, SR; Hertel, KJ
      Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3 ' splice site pairing

      JOURNAL OF BIOLOGICAL CHEMISTRY
    78. Saunders, LR; Perkins, DJ; Balachandran, S; Michaels, R; Ford, R; Mayeda, A; Barber, GN
      Characterization of two evolutionarily conserved, alternatively spliced nuclear phosphoproteins, NFAR-1 and -2, that function in mRNA processing and interact with the double-stranded RNA-dependent protein kinase, PKR

      JOURNAL OF BIOLOGICAL CHEMISTRY
    79. Wang, J; Dreyfuss, G
      A cell system with targeted disruption of the SMN gene - Functional conservation of the SMN protein and dependence of gemin2 on SMN

      JOURNAL OF BIOLOGICAL CHEMISTRY
    80. Dodds, E; Dunckley, MG; Roberts, RG; Muntoni, F; Shaw, CE
      Overexpressed human survival motor neurone isoforms, SMN+exon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution

      FEBS LETTERS
    81. Rudnik-Schoneborn, S; Hausmanowa-Petrusewicz, I; Borkowska, J; Zerres, K
      The predictive value of achieved motor milestones assessed in 441 patientswith infantile spinal muscular atrophy types II and III

      EUROPEAN NEUROLOGY
    82. Prayson, RA; Yu, AC
      Bcl-2, Bcl-x, and Bax expression by immunohistochemistry in inclusion bodymyositis - A study of 27 cases

      ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
    83. Tangsrud, SE; Carlsen, KCL; Lund-Petersen, I; Carlsen, KH
      Lung function measurements in young children with spinal muscle atrophy; across sectional survey on the effect of position and bracing

      ARCHIVES OF DISEASE IN CHILDHOOD
    84. McEntagart, M; Norton, N; Williams, H; Teare, MD; Dunstan, M; Baker, P; Houlden, H; Reilly, M; Wood, N; Harper, PS; Futreal, PA; Williams, N; Rahman, N
      Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14

      AMERICAN JOURNAL OF HUMAN GENETICS
    85. Willeit, J; Kiechl, S; Kiechl-Kohlendorfer, U; Golaszewski, S; Peer, S; Poewe, W
      Juvenile asymmetric segmental spinal muscular atrophy (Hirayama's disease)- Three cases without evidence of "flexion myelopathy"

      ACTA NEUROLOGICA SCANDINAVICA
    86. Doble, A; Kennel, P
      Animal models of amyotrophic lateral sclerosis

      AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS
    87. Swash, M; Desai, J
      Motor neuron disease: Classification and nomenclature

      AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS
    88. Philips, AV; Cooper, TA
      RNA processing and human disease

      CELLULAR AND MOLECULAR LIFE SCIENCES
    89. Cram, DS; Song, B; MacLachlan, RI; Trounson, AO
      CAG trinucleotide repeats in the androgen receptor gene of infertile men exhibit stable inheritance in female offspring conceived after ICSI

      MOLECULAR HUMAN REPRODUCTION
    90. Kugler, S; Straten, G; Kreppel, F; Isenmann, S; Liston, P; Bahr, N
      The X-linked inhibitor of apoptosis (XIAP) prevents cell death in axotomized CNS neurons in vivo

      CELL DEATH AND DIFFERENTIATION
    91. Sato, K; Eguchi, Y; Kodama, TS; Tsujimoto, Y
      Regions essential for the interaction between Bcl-2 and SMN, the spinal muscular atrophy disease gene product

      CELL DEATH AND DIFFERENTIATION
    92. Hauptschein, RS; Gaidano, G; Rao, PH; Scotto, L; Edwards, YH; Chaganti, RSK; Dalla-Favera, R
      An apparent interlocus gene conversion-like event at a putative tumor suppressor gene locus on human chromosome 6q27 in a Burkitt's lymphoma cell line

      DNA RESEARCH
    93. Sakakihara, Y; Kubota, M; Kim, S; Oka, A
      Long-term ventilator support in patients with Werdnig-Hoffmann disease

      PEDIATRICS INTERNATIONAL
    94. Martin, LJ; Price, AC; Kaiser, A; Shaikh, AY; Liu, ZP
      Mechanisms for neuronal degeneration in amyotrophic lateral sclerosis and in models of motor neuron death (Review)

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    95. Chen, JM; Ferec, C
      Gene conversion-like missense mutations in the human cationic trypsinogen gene and insights into the molecular evolution of the human trypsinogen family

      MOLECULAR GENETICS AND METABOLISM
    96. Gilbert, F; Kauff, N
      Chromosome 12

      GENETIC TESTING
    97. Endrizzi, MG; Hadinoto, V; Growney, JD; Miller, W; Dietrich, WF
      Genomic sequence analysis of the mouse Naip gene array

      GENOME RESEARCH
    98. Growney, JD; Dietrich, WF
      High-resolution genetic and physical map of the Lgnl interval in C57BL/6J implicates Naip2 or Naip5 in Legionella pneumophila pathogenesis

      GENOME RESEARCH
    99. Ji, YG; Eichler, EE; Schwartz, S; Nicholls, RD
      Structure of chromosomal duplicons and their role in mediating human genomic disorders

      GENOME RESEARCH
    100. Zhang, JH; Sampogna, S; Morales, FR; Chase, MH
      Age-dependent changes in the midsized neurofilament subunit in sensory-motor systems of the cat brainstem: An immunocytochemical study

      JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/10/19 alle ore 04:10:33