Search Results - (Author, Cooperation:F. Taroni)

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  1. 1
    Staff View
    Publication Date:
    2012-07-18
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Actins/metabolism ; Amino Acid Sequence ; Amyotrophic Lateral Sclerosis/diagnosis/*genetics/metabolism/*pathology ; Animals ; Axons/metabolism/pathology ; Cells, Cultured ; European Continental Ancestry Group/genetics ; Exome/genetics ; Female ; Genetic Predisposition to Disease/*genetics ; Growth Cones/metabolism ; High-Throughput Nucleotide Sequencing ; Humans ; Jews/genetics ; Male ; Mice ; Models, Molecular ; Molecular Sequence Data ; Motor Neurons/cytology/metabolism ; Mutant Proteins/genetics/*metabolism ; Mutation/*genetics ; Pedigree ; Profilins/*genetics/*metabolism ; Protein Conformation ; Ubiquitination
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Taroni, F.

    Oxford, UK : Blackwell Publishing Ltd
    Published 1995
    Staff View
    ISSN:
    1471-0528
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1111/j.1471-0528.1995.tb09048.x

    Articles: DFG German National Licenses
  3. 3
    Staff View
    ISSN:
    0167-4781
    Keywords:
    Carnitine ; Insulin ; Promoter
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Physics
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0167-4781(94)90280-1

    Articles: DFG German National Licenses
  4. 4
    Taroni, F. ; Donato, S.D.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0020-711X
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0020-711X(88)90075-4

    Articles: DFG German National Licenses
  5. 5
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1006/geno.1994.1605

    Articles: DFG German National Licenses
  6. 6
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(92)90076-5

    Articles: DFG German National Licenses
  7. 7
    Taroni, F. ; Gellera, C. ; Di Donato, S.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0167-4838
    Keywords:
    (Human skeletal muscle) ; (Muscle mitrochondrion) ; ATP affinity chromatography ; Malic enzyme ; NADP^+ ; NAD^+
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0167-4838(87)90191-9

    Articles: DFG German National Licenses
  8. 8
    Staff View
    ISSN:
    1437-1596
    Keywords:
    Key words Mitochondrial DNA ; Control region ; PCR ; Sequencing ; Population study ; Forensic ¶casework
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Law
    Notes:
    Abstract The polymorphism of the two hypervariable segments (HVI and HVII) of the control region of mtDNA was analyzed in a population of 154 unrelated individuals from south west Switzerland using a fluorescent based capillary electrophoresis sequencing method. In our population data of 154 random individuals, ¶137 mtDNA types were observed. Of these, 124 sequences were observed only in one individual whereas 10 sequences were observed in 2 individuals, 2 sequences in 3 individuals and 1 sequence in 4 individuals. The probability of two unrelated individuals having the same sequence was 0.84%. The results were compared with four other Caucasian populations. Furthermore, the usefulness of the mtDNA sequencing was tested, for exclusion and inclusion, in 18 forensic cases including 69 evidence samples and 44 reference samples. Despite the fact that 55% of the evidence samples yielded a negative result for the nuclear DNA with the human dot quantitation system, the success rate of the mtDNA sequencing was 71.0%. This validation study proves the great usefulness and sensitivity of the mtDNA sequencing technique using nested PCR and fluorescent capillary electrophoresis.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/PL00007715

    Articles: DFG German National Licenses
  9. 9
    Staff View
    ISSN:
    1573-2665
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1023/A:1005379330187

    Articles: DFG German National Licenses
  10. 10
    Staff View
    ISSN:
    1573-2665
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract The results of a medium-chain triglyceride loading test in a patient with severe carnitine–acylcarnitine translocase deficiency clearly demonstrated impaired in vivo utilization of medium-chain triglycerides. The loading test was performed at the ages of 7 and 36 months. The diet was adjusted accordingly. The clinical course has been favourable and the child is now in very good condition at age 4 years. We conclude that the utilization of medium-chain triglycerides is only partial in carnitine–acylcarnitine translocase deficiency and cannot reasonably be considered an optimal source of energy for these patients. Careful adjustment of dietetic treatment may help to improve prognosis.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1023/A:1005548201355

    Articles: DFG German National Licenses
  11. 11
    Staff View
    ISSN:
    1590-3478
    Keywords:
    Kennedy's disease ; Spinal and bulbar muscular atrophy ; Trinucleotide repeats ; Motoneuron disease ; Androgen receptor
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Description / Table of Contents:
    Sommario La sindrome di Kennedy, o atrofia muscolare spino-bulbare (SBMA), è una rara malattia del motoneurone ad ereditarietà legata al cromosoma X, caratterizzata dalla presenza di segni di insensibilità agli androgeni. È associata ad una espansione di una sequenza ripetuta del trinucleotide CAG nel gene del recettore per gli androgeni (AR). Vengono riportati i dati clinici e molecolari di due famiglie italiane con sindrome di Kennedy. L'espansione della sequenza ripetuta (CAG)n è stata dimostrata in 4 maschi affetti ed 7 femmine portatrici.
    Notes:
    Abstract Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-linked motoneuron disorder with variable signs of androgen insensitivity. It is associated with the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene. We here report our clinical and molecular findings in two Italian families with Kennedy's disease. The increased size of the CAG repeat was demonstrated in four affected males and seven carrier females.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF02229324

    Articles: DFG German National Licenses
  12. 12
    Staff View
    ISSN:
    1573-7284
    Keywords:
    Coal power plants ; Workers mortality
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract Although many studies have been performed to evaluate the environmental impact of coal energy production, few studies are available on the health risk for the people working in coal power plants. A retrospective cohort study was performed on the workers of two power plants near Venice (which use coal since 1968) in order to test the association between exposure to coal dust and ashes and mortality for all causes, all cancers, and respiratory and digestive cancer. One thousand three hundred seven male workers were followed up from 1968 to 1984. During this period 41 workers died; causes of death were collected from the local Mortality Registers and/or from the Hospital Records. The observed mortality of the study cohort was compared with the mortality expected from the Italian death rates in the same period. No Standardized Mortality Ratio (SMR) was found in excess in the working cohort with respect to the standard population for any of the investigated effects.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00145051

    Articles: DFG German National Licenses
  13. 13
    Festi, D. ; Lalloni, L. ; Taroni, F. ; Barbara, L. ; Menotti, A. ; Ricci, G.
    Springer
    Published 1989
    Staff View
    ISSN:
    1573-7284
    Keywords:
    Reliability ; Ultrasonography ; Gallstones
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract Inter and intea-observer agreement in classifying the presence of gallstones by ultrasonographic images according to established criteria was studied. A film recording of 50 routine ultrasonographic examinations of the gallbladder was read by each of the 46 observers who participated in the Multicenter Italian Study on Epidemiology of Cholelithiasis (M.I.COL.). The overall Kappa score for inter-observer agreement was 0.649, while intea-observer agreement was “good” or “excellent” (Kappa scores 〉0.60) in 75% of the observers. No statistical difference for inter-observer agreement between “novices” and “expert” echographers was found in the overall Kappa statistic or in category-specific Kappa scores (gallstone, no gallstone, doubtful and inconclusive examinations) The present study suggests that the development of explicit criteria by a group of trained echographers does not eliminate inter-and intea-observer disagreement in categorizing subjects for gallbladder stones.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00145045

    Articles: DFG German National Licenses
  14. 14
    Staff View
    ISSN:
    1573-7284
    Keywords:
    General Practice ; Variation ; Case-mix ; Referrals ; Prescribing
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract The activity of 34 general practitioners (GP) working in solo practices in six Local Health Units were assessed, as a preliminary step of a main study, to evaluate and possibly improve the quality of GP professional performance using peer review and feed-back information. A wide interpractice variation was observed in patient visit and patient visiting rates, drug and test prescribing, in- and out-patient referrals, as well as in the composition of the practice case-mix. The extent of interpractice variation for relevant actions in the process of care was unchanged after adjusting for case-mix, suggesting that case-mix differences have little effect in explaining differences among physicians' overall pattern of care and health care resource consumptions.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00150439

    Articles: DFG German National Licenses