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    1. Barone, R; Fiumara, A; Villani, GRD; Di Natale, P; Pavone, L
      Extraneurologic symptoms as presenting signs of Sanfilippo disease

      PEDIATRIC NEUROLOGY
    2. Pavone, L; Andrulli, S; Santi, R; Majori, M; Buzio, C
      Long-term treatment with low doses of interleukin-2 and interferon-alpha: immunological effects in advanced renal cell cancer

      CANCER IMMUNOLOGY IMMUNOTHERAPY
    3. Angelillo, IF; Pavone, L; Rito, D
      Acute flaccid paralysis surveillance in Southern Italy

      PUBLIC HEALTH
    4. Buzio, C; Andrulli, S; Santi, R; Pavone, L; Passalacqua, R; Potenzoni, D; Ferrozzi, F; Giacosa, R; Vaglio, A
      Long-term immunotherapy with low-dose interleukin-2 and interferon-alpha in the treatment of patients with advanced renal cell carcinoma

      CANCER
    5. Mauceri, L; Sorge, G; Baieli, S; Rizzo, R; Pavone, L; Coleman, M
      Aggressive behavior in patients with Sotos syndrome

      PEDIATRIC NEUROLOGY
    6. Pavone, L; Rizzo, R; Pavone, P; Curatolo, P; Dobyns, WB
      Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies

      JOURNAL OF CHILD NEUROLOGY
    7. Ruggieri, M; Pavone, L
      Hypomelanosis of ito: Clinical syndrome or just phenotype?

      JOURNAL OF CHILD NEUROLOGY
    8. Mauceri, L; Sorge, G; Incorpora, G; Pavone, L
      Pallister-Killian syndrome: Case report with pineal tumor

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Barone, R; Di Gregorio, F; Romeo, MA; Schiliro, G; Pavone, L
      Plasma chitotriosidase activity in patients with beta-thalassemia

      BLOOD CELLS MOLECULES AND DISEASES
    10. Fiumara, A; Sciotto, A; Barone, R; D'Asero, G; Munda, S; Parano, E; Pavone, L
      Peripheral lymphocyte subsets and other immune aspects in Rett syndrome

      PEDIATRIC NEUROLOGY
    11. Fiumara, A; Barone, R; D'Asero, G; Marzullo, E; Pavone, L
      Rett syndrome: Photographic evidence of rapid regression

      JOURNAL OF CHILD NEUROLOGY
    12. Barone, R; Pavone, L; Fiumara, A; Bianchini, R; Jaeken, J
      Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)

      BRAIN & DEVELOPMENT
    13. Ruggieri, M; Pavone, V; De Luca, D; Franzo, A; Tine, A; Pavone, L
      Congenital bone malformations in patients with neurofibromatosis type 1 (Nf1)

      JOURNAL OF PEDIATRIC ORTHOPAEDICS
    14. Barone, R; Nigro, F; Triulzi, F; Musumeci, S; Fiumara, A; Pavone, L
      Clinical and neuroradiological follow-up in mucopolysaccharidosis type III(Sanfilippo syndrome)

      NEUROPEDIATRICS
    15. Ruggieri, M; Polizzi, A; Pavone, L; Grimaldi, LME
      Multiple sclerosis in children under 6 years of age

      NEUROLOGY
    16. Pavone, L
      Neurofibromatosis - Past to present

      RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS
    17. BARONE R; CARCHON H; JANSEN E; PAVONE L; FIUMARA A; BOSSHARD NU; GITZELMANN R; JAEKEN J
      LYSOSOMAL-ENZYME ACTIVITIES IN SERUM AND LEUKOCYTES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE IA (PHOSPHOMANNOMUTASE DEFICIENCY)

      Journal of inherited metabolic disease
    18. RUGGIERI M; POLIZZI A; PAVONE L; MUSUMECI S
      THALAMIC SYNDROME IN CHILDREN WITH MEASLES INFECTION AND SELECTIVE, REVERSIBLE THALAMIC INVOLVEMENT

      Pediatrics
    19. FIUMARA A; BARONE R; SCIOTTO A; SCIACCA A; ROMANO R; PAVONE L
      RETT-SYNDROME - IMMUNOLOGICAL STUDIES

      European child & adolescent psychiatry
    20. RIZZO R; RUGGIERI M; MICALI G; TINE A; SANFILIPPO S; PAVONE L
      LIPOID PROTEINOSIS - A CASE-REPORT

      Pediatric dermatology
    21. PAVONE L
      MODERATE MENTAL-RETARDATION

      Rivista italiana di pediatria
    22. DIBIASE A; PAVONE L; SALVATI S; BERTINI E; UZIEL G
      EARLY DIAGNOSIS OF ADRENOLEUKODYSTROPHY

      Rivista italiana di pediatria
    23. PAVONE L; SORGE G; PAVONE V; RIZZO R; RUGGIERI M; POLIZZI A; OPITZ JM
      FAMILIAL BROAD TERMINAL PHALANGES WITH ONE INDIVIDUAL SHOWING ADDITIONAL ANOMALIES

      American journal of medical genetics
    24. SORGE G; PAVONE L; POLIZZI A; MAUCERI L; LEONARDI RM; TRIPI T; OPITZ JM
      ANOTHER NEW FORM, THE PALAGONIA TYPE OF ACROFACIAL DYSOSTOSIS IN A SICILIAN FAMILY

      American journal of medical genetics
    25. RUGGIERI M; CARBONARA C; MAGRO C; MIGONE N; GRASSO S; TINE A; PAVONE L; GOMEZ MR
      TUBEROUS SCLEROSIS COMPLEX - NEONATAL DEATHS IN 3 OF 4 CHILDREN OF CONSANGUINEOUS, NON-EXPRESSING PARENTS

      Journal of Medical Genetics
    26. PAVONE L; FIUMARA A; BOTTARO G; MAZZONE D; COLEMAN M
      AUTISM AND CELIAC-DISEASE - FAILURE TO VALIDATE THE HYPOTHESIS THAT ALINK MIGHT EXIST

      Biological psychiatry
    27. SHAH AB; CHERNOV I; ZHANG HT; ROSS BM; DAS K; LUTSENKO S; PARANO E; PAVONE L; EVGRAFOV O; IVANOVASMOLENSKAYA IA; ANNEREN G; WESTERMARK K; URRUTIA FH; PENCHASZADEH GK; STERNLIEB I; SCHEINBERG IH; GILLIAM TC; PETRUKHIN K
      IDENTIFICATION AND ANALYSIS OF MUTATIONS IN THE WILSON-DISEASE GENE (ATP7B) - POPULATION FREQUENCIES, GENOTYPE-PHENOTYPE CORRELATION, AND FUNCTIONAL ANALYSES

      American journal of human genetics
    28. PAVONE L; RIZZO R; RUGGIERI M; SORGE G
      HYPERTRICHOSIS, COARSE FACE, BRACHYDACTYLY, OBESITY AND MENTAL-RETARDATION

      Clinical dysmorphology
    29. RUGGIERI M; POLIZZI A; FRANZO A; DELUCA D; PAVONE L
      SPEECH AND LANGUAGE DISABILITIES IN ASSOCIATION WITH PARIETOTEMPORAL WHITE-MATTER ABNORMALITIES IN HYPOMELANOSIS OF ITO - AN ANATOMICAL SUBSTRATE FOR A BEHAVIORAL-PHENOTYPE

      Annals of neurology
    30. TRIFILETTI RR; PAVONE L; INCORPORA G; PARANO E
      STROKE IN CHILDREN WITH BETA-THALASSEMIA MAJOR - ROLE OF HYPERTRANSFUSION

      Annals of neurology
    31. PARANO E; PAVONE L; FALSAPERLA R; TRIFILETTI R; WANG C
      MOLECULAR-BASIS OF PHENOTYPIC HETEROGENEITY IN SIBLINGS WITH SPINAL MUSCULAR-ATROPHY

      Annals of neurology
    32. FIUMARA A; BARONE R; BUTTITTA P; MUSSO R; PAVONE L; NIGRO F; JAEKEN J
      HEMOSTATIC STUDIES IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      Thrombosis and haemostasis
    33. PAVONE L; FIUMARA A; BARONE R; RIZZO R; BUTTITTA P; DOBYNS WB; JAEKEN J
      OLIVOPONTOCEREBELLAR ATROPHY LEADING TO RECOGNITION OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

      Journal of neurology
    34. INCORPORA G; PAVONE L; PARANO E; COCUZZA M; CATALANO F; TRIFILETTI R
      NEUROLOGICAL COMPLICATIONS IN HOSPITALIZED-PATIENTS WITH PERTUSSIS - A 15-YEAR SICILIAN EXPERIENCE

      Child's nervous system
    35. RUGGIERI M; ARCIDIACONO G; TINE A; DIMAURO C; PAVONE L
      PULMONARY VALVE STENOSIS IN A PATIENT WITH ATAXIA-TELANGIECTASIA

      European heart journal
    36. PARANO E; PAVONE L; MUSUMECI S; GIAMBUSSO F; TRIFILETTI RR
      ACUTE PALSY OF THE RECURRENT LARYNGEAL NERVE COMPLICATING EPSTEIN-BARR-VIRUS INFECTION

      Neuropediatrics
    37. BARONE R; BRUHL K; STOETER P; FIUMARA A; PAVONE L; BECK M
      CLINICAL AND NEURORADIOLOGICAL FINDINGS IN CLASSIC INFANTILE AND LATE-ONSET GLOBOID-CELL LEUKODYSTROPHY (KRABBE DISEASE)

      American journal of medical genetics
    38. ROMANO V; GULDBERG P; GUTTLER F; MELI C; MOLLICA F; PAVONE L; GIOVANNINI M; RIVA E; BIASUCCI G; LUOTTI D; PALILLO L; CALI F; CERATTO N; ANELLO G; BOSCO P
      PAH DEFICIENCY IN ITALY - CORRELATION OF GENOTYPE WITH PHENOTYPE IN THE SICILIAN POPULATION

      Journal of inherited metabolic disease
    39. RUGGIERI M; TIGANO G; MAZZONE D; TINE A; PAVONE L
      INVOLVEMENT OF THE WHITE-MATTER IN HYPOMELANOSIS OF ITO (INCONTINENTIA PIGMENTI ACHROMIENS)

      Neurology
    40. RUGGIERI M; FIUMARA A; GRIMALDI LME; POLIZZI A; PAVONE L
      MULTIPLE-SCLEROSIS WITH ONSET AT 35 MONTHS OF AGE

      Clinical pediatrics
    41. CONDORELLI DF; MILANA G; DELLALBANI P; ROCCAZZELLO AM; INSIRELLO E; PAVONE L; MOLLICA F
      ROUTINE CLINICAL-APPLICATION OF THE FRAXA PFU PCR ASSAY - LIMITS AND UTILITY

      Clinical genetics
    42. PARANO E; PAVONE L; FIUMARA A; FALSAPERLA R; TRIFILETTI RR; DOBYNS WB
      CONGENITAL MUSCULAR-DYSTROPHIES - CLINICAL REVIEW AND PROPOSED CLASSIFICATION

      Pediatric neurology
    43. BALESTRAZZI P; AVINO G; BANCHINI G; BANIN P; BARONI M; BASSANETTI F; BENSO L; BERGAMASCHI R; BIASINI G; BOSCHERINI B; BUSTI G; CASADEI GP; CECCHI MT; CIATTO C; COMELLINI L; DEFANTI CA; DAPELO A; DIGILIO MC; FERA F; FRANZONI E; GABRIELLI O; GARAVELLI L; GALASSO C; GENNARI G; GIANNOTTI A; GITTI F; IWANEJKO G; LAMA G; LANZI G; LORENZETTI ME; MARGARI L; MARTINI C; MASTROIACOVO PP; MICHELI R; MIGLIORE MR; MAZZANTI L; PASQUINELLI A; PALLOTTA R; PANIZON F; PAVONE L; PELLEGRINI C; PERNIOLA T; RABUSIN M; ROMANO C; ROSSI LN; RUGGIERI M; SEGRE A; SIMONATI A; SAVASTA S; SCORZA P; TOZZOLA A; VANNELLI S; VULLO C; ZAMBRINO CA; ZAMPINO G; ZANOLINI C; ZELANTE L
      TAKE-CARE PROTOCOL FOR NFI SYMPTOMS-FREE PATIENTS

      Rivista italiana di pediatria
    44. RUGGIERI M; TINE A; PANE P; PAVONE L
      BOURNEVILLE TUBEROUS-SCLEROSIS - CLINICAL REPORT ON PHYSICAL FINDINGSAND COURSE IN 40 PATIENTS

      Rivista italiana di pediatria
    45. PAVONE L; CAVAZZUTI GB; FOIS A
      NEUROPAEDIATRICS

      Child's nervous system
    46. RIZZO R; PAVONE L
      AUTOSOMAL-RECESSIVE MICROCEPHALY IN 2 SIBLINGS, ONE WITH NORMAL IQ AND BOTH WITH PROTRUDING MANDIBLE, SMALL EARS, AND CURVED NOSE

      American journal of medical genetics
    47. FIUMARA A; BARONE R; NIGRO F; RIBES A; PAVONE L
      PANCREATITIS AND ORGANIC ACIDEMIAS

      The Journal of pediatrics
    48. PAVONE L; INCORPORA G; PARANO E; TINE A; MAZZONE D
      NEW ANTICONVULSANTS IN THE TREATMENT OF NEONATAL SEIZURES

      Epilepsia
    49. WANG CH; KLEYN PW; VITALE E; ROSS BM; LIEN L; XU J; CARTER TA; BRZUSTOWICZ LM; OBICI S; SELIG S; PAVONE L; PARANO E; PENCHASZADEH GK; MUNSAT T; KUNKEL LM; GILLIAM TC
      REFINEMENT OF THE SPINAL MUSCULAR-ATROPHY LOCUS BY GENETIC AND PHYSICAL MAPPING

      American journal of human genetics
    50. PURRELLO M; DIPIETRO C; RAPISARDA A; MOTTA S; PAVONE L; GRZESCHIK KH; SICHEL G
      LOCALIZATION OF THE HUMAN GENES ENCODING THE 2 SUBUNITS OF GENERAL TRANSCRIPTION FACTOR TFIIE

      Genomics
    51. PURRELLO M; DIPIETRO C; MIRABILE E; RAPISARDA A; RIMINI R; TINE A; PAVONE L; MOTTA S; GRZESCHIK KH; SICHEL G
      PHYSICAL MAPPING AT 6Q27 OF THE LOCUS FOR THE TATA BOX-BINDING PROTEIN, THE DNA-BINDING SUBUNIT OF TFIID AND A COMPONENT OF SL1 AND TFIIIB,STRONGLY SUGGESTS THAT IT IS SINGLE-COPY IN THE HUMAN GENOME

      Genomics
    52. PARANO E; FIUMARA A; FALSAPERLA R; PAVONE L
      A CLINICAL-STUDY OF CHILDHOOD SPINAL MUSCULAR-ATROPHY IN SICILY - A REVIEW OF 75 CASES

      Brain & development
    53. PAVONE L
      CELIAC-DISEASE AND EPILEPSY IN PEDIATRIC-PATIENTS - COMMENT

      Child's nervous system
    54. FOIS A; TINE A; PAVONE L
      INFANTILE SPASMS IN PATIENTS WITH NEUROFIBROMATOSIS TYPE-1

      Child's nervous system
    55. CAZGAN AL; PARANO E; PAVONE L; DEVIVO DC
      METABOLIC DYSFUNCTION IN RUSSELL-SILVER SYNDROME

      Journal of inherited metabolic disease
    56. BOONSTRA R; HOCHACHKA WM; PAVONE L
      HETEROZYGOSITY, AGGRESSION, AND POPULATION FLUCTUATIONS IN MEADOW VOLES (MICROTUS-PENNSYLVANICUS)

      Evolution
    57. PETRUKHIN K; FISCHER SG; PIRASTU M; TANZI RE; CHERNOV I; DEVOTO M; BRZUSTOWICZ LM; CAYANIS E; VITALE E; RUSSO JJ; MATSEOANE D; BOUKHGALTER B; WASCO W; FIGUS AL; LOUDIANOS J; CAO A; STERNLIEB I; EVGRAFOV O; PARANO E; PAVONE L; WARBURTON D; OTT J; PENCHASZADEH GK; SCHEINBERG IH; GILLIAM TC
      MAPPING, CLONING AND GENETIC-CHARACTERIZATION OF THE REGION CONTAINING THE WILSON DISEASE GENE

      Nature genetics
    58. TANZI RE; PETRUKHIN K; CHERNOV I; PELLEQUER JL; WASCO W; ROSS B; ROMANO DM; PARANO E; PAVONE L; BRZUSTOWICZ LM; DEVOTO M; PEPPERCORN J; BUSH AI; STERNLIEB I; PIRASTU M; GUSELLA JF; EVGRAFOV O; PENCHASZADEH GK; HONIG B; EDELMAN IS; SOARES MB; SCHEINBERG IH; GILLIAM TC
      THE WILSON DISEASE GENE IS A COPPER TRANSPORTING ATPASE WITH HOMOLOGYTO THE MENKES DISEASE GENE

      Nature genetics
    59. PAVONE L
      ITALIAN-SOCIETY-OF-NEUROPEDIATRICS (SINP)

      Brain & development
    60. PAVONE L; RIZZO R; DOBYNS WB
      CLINICAL MANIFESTATIONS AND EVALUATION OF ISOLATED LISSENCEPHALY

      Child's nervous system
    61. RIZZO R; PAVONE L; MICALI G; NIGRO F; COHEN MM
      ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, PROTEUS SYNDROME, AND SOMATIC MOSAICISM

      American journal of medical genetics
    62. BOROCHOWITZ Z; PAVONE L; MAZOR G; RIZZO R; DAR H
      FACIO-CUTANEOUS-SKELETAL SYNDROME - NEW NOSOLOGICAL ENTITY OR COSTELLO SYNDROME

      American journal of medical genetics
    63. FIUMARA A; NIGRO F; PAVONE L; MOSER HW
      FARBER-DISEASE WITH PROLONGED SURVIVAL

      Journal of inherited metabolic disease
    64. RIZZO R; PAVONE L; MICALI G; HALL JG
      FAMILIAL BILATERAL ANTECUBITAL PTERYGIA WITH SEVERE RENAL INVOLVEMENTIN NAIL-PATELLA SYNDROME

      Clinical genetics
    65. KLEYN PW; WANG CH; VITALE E; CARTER TA; ROSS BM; JIE P; PALMER DA; GRUNN A; BONALDO MF; SHAH A; PENCHAZADEH G; DAS K; BRZUSTOWICZ LM; LIEN LL; SELIG S; PERLS KB; PARANO E; PAVONE L; MUNSAT T; WARBURTON D; SOARES MB; KUNKEL LM; GILLIAM TC
      PHYSICAL MAPPING OF THE SPINAL MUSCULAR-ATROPHY LOCUS AND IDENTIFICATION OF CANDIDATE GENES

      American journal of human genetics


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Documento generato il 23/01/21 alle ore 05:29:38