nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Abnormal proteins in congenital muscular dystrophies
|
Tomé, F.M.S. |
|
1996 |
6 |
2 |
p. S17- 1 p. |
artikel |
2 |
A case of lyme disease with neurological manifestations and tumoral mass in the spinal cord
|
Baslo, P. |
|
1996 |
6 |
2 |
p. S31- 1 p. |
artikel |
3 |
Adenoviral gene therapy for duchenne muscular dystrophy
|
Clemens, Paula R. |
|
1996 |
6 |
2 |
p. S24- 1 p. |
artikel |
4 |
A mild adult myopathic variant of type iv glycogenosis
|
Bornemann, A. |
|
1996 |
6 |
2 |
p. 95-99 5 p. |
artikel |
5 |
Analysis of muscular dystrophies gene mutations in Southern Italy
|
Politano, L. |
|
1996 |
6 |
2 |
p. S12- 1 p. |
artikel |
6 |
Analysis of the emerin gene in familial and sporadic cases of emery-dreifuss muscular dystrophy
|
Llense, S. |
|
1996 |
6 |
2 |
p. S16- 1 p. |
artikel |
7 |
An autosomal-recessive congenital myasthenic syndrome with tubular aggregates in a libyan family
|
Sieb, Jörn P. |
|
1996 |
6 |
2 |
p. 115-119 5 p. |
artikel |
8 |
An efficient transfection method for all kind of cultured neural tissue: the biolistic technique
|
Ausenda, C.D. |
|
1996 |
6 |
2 |
p. S31- 1 p. |
artikel |
9 |
A novel non sense mutation in exon 72 of the dystrophin gene producing exon skipping in a bmd patient
|
Melis, M.A. |
|
1996 |
6 |
2 |
p. S12- 1 p. |
artikel |
10 |
Antimyotonic effects of enantiomers of mexiletine-like drugs
|
De Luca, A. |
|
1996 |
6 |
2 |
p. S19- 1 p. |
artikel |
11 |
Anti-skeletal muscle autoantibodies in malignant hyperthermia (MH) susceptible patients
|
De Cauwer, H. |
|
1996 |
6 |
2 |
p. S30- 1 p. |
artikel |
12 |
Applications of in situ hybridization to muscle embryology
|
Fougerousae, F. |
|
1996 |
6 |
2 |
p. S30- 1 p. |
artikel |
13 |
Assessment of ventilatory function in patients with neuromuscular diseases
|
Gigliotti, F. |
|
1996 |
6 |
2 |
p. S28- 1 p. |
artikel |
14 |
Asymptomatic dystrophinopathies: analysis of DNA, mRNA and protein
|
Galluzzi, G. |
|
1996 |
6 |
2 |
p. S13- 1 p. |
artikel |
15 |
Author index
|
|
|
1996 |
6 |
2 |
p. S36-S39 4 p. |
artikel |
16 |
Autosomal dominant muscular dystrophy with rimmed vacuoles: a nosological entity?
|
Servidei, S. |
|
1996 |
6 |
2 |
p. S10- 1 p. |
artikel |
17 |
Autosomal dominant spastic paraplegia in sardinia: preliminary linkage analysis results
|
Dellavecchia, C. |
|
1996 |
6 |
2 |
p. S33- 1 p. |
artikel |
18 |
Bethlem myopathy: clinical aspects
|
de Visser, M. |
|
1996 |
6 |
2 |
p. S14- 1 p. |
artikel |
19 |
Biochemical/molecular/clinical correlations in sarcoglycan complex disorders
|
Hoffman, Eric P. |
|
1996 |
6 |
2 |
p. S9- 1 p. |
artikel |
20 |
BMD diagnosis and molecular studies in 3 Italian asymptomatic families
|
Donati, M.A. |
|
1996 |
6 |
2 |
p. S13- 1 p. |
artikel |
21 |
Body hydration in duchenne muscular dystrophy
|
Ballestrazzi, A. |
|
1996 |
6 |
2 |
p. S35- 1 p. |
artikel |
22 |
Case report of overlap syndrome Scleroderma-Polymyositis, with peculiar involvement of trunk muscles
|
Marchione, T. |
|
1996 |
6 |
2 |
p. S27- 1 p. |
artikel |
23 |
Chromosome 13 liked muscular dystrophy
|
Hamida, M.Ben |
|
1996 |
6 |
2 |
p. S8- 1 p. |
artikel |
24 |
Chromosome 15-linked limb girdle muscular dystrophy — clinical phenotype
|
Fardeau, M. |
|
1996 |
6 |
2 |
p. S7- 1 p. |
artikel |
25 |
Chronic fatigue syndrome
|
Giampiero, Marconi |
|
1996 |
6 |
2 |
p. S25- 1 p. |
artikel |
26 |
Clinical, histochemical and biochemical aspects of dystrophynopathic cardiomyopathy
|
Nigro, G. |
|
1996 |
6 |
2 |
p. S27- 1 p. |
artikel |
27 |
Clinical, pathological and molecular genetic studies in an Italian family affected by hereditary amyloidosis
|
Pelo, E. |
|
1996 |
6 |
2 |
p. S35- 1 p. |
artikel |
28 |
Clinical phenotype in limb girdle dystrophies with defects in α, β & γ sarcoglycans
|
Sewry, C.A. |
|
1996 |
6 |
2 |
p. S10- 1 p. |
artikel |
29 |
Congenital myasthenic syndromes 34th ENMC international workshop, 10–11 June 1995
|
Middleton, L.T. |
|
1996 |
6 |
2 |
p. 133-136 4 p. |
artikel |
30 |
Controlled trial of nimodipine in amyotrophic lateral sclerosis
|
Miller, Robert G. |
|
1996 |
6 |
2 |
p. 101-104 4 p. |
artikel |
31 |
Cytokines in myelin and axonal damage in Guillain-Barré syndrome: An immunohistochemical study
|
Putzu, G.A. |
|
1996 |
6 |
2 |
p. S26- 1 p. |
artikel |
32 |
Detection of Duchenne muscular dystrophy gene products in amniotic fluid and chorionic villus sampling cells — Possible application for prenatal diagnosis
|
Yaffe, David |
|
1996 |
6 |
2 |
p. S12- 1 p. |
artikel |
33 |
Diagnostics and carrier testing in DMD/BMD
|
Bakker, E. |
|
1996 |
6 |
2 |
p. S11- 1 p. |
artikel |
34 |
Distal myopathies and overlapping forms and intrafamiliar variability between distal myopathies and limb-girdle muscular dystrophies
|
Somer, H. |
|
1996 |
6 |
2 |
p. S15- 1 p. |
artikel |
35 |
DNA and RNA studies on spinal muscular atrophies
|
Novelli, G. |
|
1996 |
6 |
2 |
p. S20- 1 p. |
artikel |
36 |
Does myotonic dystrophy have a developmental basis and is it a single gene disorder?
|
Johnson, K.J. |
|
1996 |
6 |
2 |
p. S18- 1 p. |
artikel |
37 |
Effects of diltiazem and dantrolene in the mdx mouse
|
Hauser, E. |
|
1996 |
6 |
2 |
p. S34- 1 p. |
artikel |
38 |
EMG analysis with computerised techniques: feasibility and reliability in clinical evaluation of neuromuscular disease
|
Ronchi, O. |
|
1996 |
6 |
2 |
p. S28- 1 p. |
artikel |
39 |
Evaluation and treatment of myopathies
|
Turnbull, D.M. |
|
1996 |
6 |
2 |
p. 139-140 2 p. |
artikel |
40 |
Evaluation of respiratory pattern in neuromuscular patients
|
Carnevali, P. |
|
1996 |
6 |
2 |
p. S29- 1 p. |
artikel |
41 |
Evidence of genetic heterogeneity in facioscapulohumeral muscular dystrophy Italian families
|
Tupler, R. |
|
1996 |
6 |
2 |
p. S16- 1 p. |
artikel |
42 |
Exon-specific monoclonal antibodies against dystrophn for diagnosis and genetic deletion analysis in muscular dystrophy
|
Man, Nguyen thi |
|
1996 |
6 |
2 |
p. S14- 1 p. |
artikel |
43 |
Ex vivo gene therapy for myopathies: how to get enough myogenic cells?
|
Salvatori, G. |
|
1996 |
6 |
2 |
p. S23- 1 p. |
artikel |
44 |
Familial recurrent Bell's palsy in an Italian family
|
Giardini, G. |
|
1996 |
6 |
2 |
p. S34- 1 p. |
artikel |
45 |
Federica Dworzak (1952–1995)
|
Cornelio, Ferdinando |
|
1996 |
6 |
2 |
p. 137- 1 p. |
artikel |
46 |
From pathogenesis to therapy
|
Pinelli, Paolo |
|
1996 |
6 |
2 |
p. S20- 1 p. |
artikel |
47 |
Gene therapy for Duchenne muscular dystrophy: preclinical studies in the mdx mouse
|
Dickson, George |
|
1996 |
6 |
2 |
p. S23- 1 p. |
artikel |
48 |
Genetic, allelic and phenotypic heterogeneity of muscular dystrophies with primary and secondary involvement of adhalin (alpha-sarcoglycan)
|
Kaplan, J.-C. |
|
1996 |
6 |
2 |
p. S8- 1 p. |
artikel |
49 |
Genetic heterogeneity of oculopharyngeal muscular dystrophy (OPMD)
|
Müller, C.R. |
|
1996 |
6 |
2 |
p. S30- 1 p. |
artikel |
50 |
Genotype-phenotype relationships in myotonic dystrophy
|
Pizzuti, Antonio |
|
1996 |
6 |
2 |
p. S18- 1 p. |
artikel |
51 |
Genotype-phen type correlation and prognostic assessment in 463 patients with myotonic dystrophy
|
Gennarelli, M. |
|
1996 |
6 |
2 |
p. S19- 1 p. |
artikel |
52 |
Handbook of botulinum toxin treatment
|
Cull, Roger E. |
|
1996 |
6 |
2 |
p. 140- 1 p. |
artikel |
53 |
Hereditary motor and sensory neuropathies
|
de Visser, M. |
|
1996 |
6 |
2 |
p. S21- 1 p. |
artikel |
54 |
Hereditary neuropathy with liability to pressure palsies: clinical and molecular studies of two families
|
Anichini, E. |
|
1996 |
6 |
2 |
p. S22- 1 p. |
artikel |
55 |
Histopathology of mixed axonal and myelinic neuropathies: correlation of morphometric and EMG data
|
Putzu, G.A. |
|
1996 |
6 |
2 |
p. S21- 1 p. |
artikel |
56 |
Homozygous deletions of the SMN gene are associated with different phenotypes in SMA type III families
|
Bussaglia, E. |
|
1996 |
6 |
2 |
p. S22- 1 p. |
artikel |
57 |
Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases
|
Martorell, L. |
|
1996 |
6 |
2 |
p. S19- 1 p. |
artikel |
58 |
How is somnolence in myotonic dystrophy related to other aspects of the disorder?
|
Phillips, M.F. |
|
1996 |
6 |
2 |
p. S18- 1 p. |
artikel |
59 |
Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies
|
Beckmann, J.S. |
|
1996 |
6 |
2 |
p. S7- 1 p. |
artikel |
60 |
Identification of point mutations and polymorphisms in the dystrophin gene by SSCP analysis
|
Lasa, A. |
|
1996 |
6 |
2 |
p. S13- 1 p. |
artikel |
61 |
Immune-mediated polyneuropathies
|
Nobile-Orazio, Eduardo |
|
1996 |
6 |
2 |
p. S25- 1 p. |
artikel |
62 |
Immunoelectromicroscopy localization of merosin in the human skeletal muscle and peripheral nerve
|
Villanova, Marcello |
|
1996 |
6 |
2 |
p. S32- 1 p. |
artikel |
63 |
Immunohistochemical studies of muscle and nerve in merosin-deficient congenital muscular dystrophy
|
Piantadosi, C. |
|
1996 |
6 |
2 |
p. S18- 1 p. |
artikel |
64 |
Immunohistochemistry, immunoblot and PCR multiplex results in 16 patients with cramp/myalgia and/or rhabdomyolysis
|
Bâeta, A.M. |
|
1996 |
6 |
2 |
p. S30- 1 p. |
artikel |
65 |
Immunolocalization of 70 KD heat shock protein in inflammatory and non inflammatory myopathies
|
Volpi, N. |
|
1996 |
6 |
2 |
p. S26- 1 p. |
artikel |
66 |
Impaired contractile properties in single muscle fibres isolated from patients affected by FSHD
|
Bottinelli, R. |
|
1996 |
6 |
2 |
p. S16- 1 p. |
artikel |
67 |
Irena Hausmanowa-Petrusewicz 50 years for neurology and neuromuscular diseases
|
Ignatius, Jaakko |
|
1996 |
6 |
2 |
p. 121-123 3 p. |
artikel |
68 |
Limb-girdle muscular dystrophy: A follow-up study of 79 patients
|
Mahjneh, I. |
|
1996 |
6 |
2 |
p. S9- 1 p. |
artikel |
69 |
Merosin-negative congenital muscular dystrophy, cortical dysplasia and epilepsy: An association to investigate
|
Pini, A. |
|
1996 |
6 |
2 |
p. S17- 1 p. |
artikel |
70 |
Microsatellite analysis in carrier detection and prenatal diagnosis of duchenne and becker muscular dystrophy
|
Tedeschi, S. |
|
1996 |
6 |
2 |
p. S13- 1 p. |
artikel |
71 |
Mitochondrial encephalomyopathies: Gene mutation
|
|
|
1996 |
6 |
2 |
p. XI-XIV nvt p. |
artikel |
72 |
Molecular genetics of chromosome 2-linked LGMD
|
Bushby, K. |
|
1996 |
6 |
2 |
p. S7- 1 p. |
artikel |
73 |
Molecular investigation of bethlem myopathy
|
Bolhuis, Pieter A. |
|
1996 |
6 |
2 |
p. S15- 1 p. |
artikel |
74 |
Molecular mechanism of DNA rearrangements implicated in FSH dystrophy and applications to the diagnosis of the disease
|
Cacurri, S. |
|
1996 |
6 |
2 |
p. S14- 1 p. |
artikel |
75 |
Molecular scanning for point mutations in DMD/BMD
|
Ferrari, M. |
|
1996 |
6 |
2 |
p. S11- 1 p. |
artikel |
76 |
Monoclonal antibodies against emerin, for the diagnosis of emery-dreifuss muscular dystrophy
|
Maniw, Sushila |
|
1996 |
6 |
2 |
p. S16- 1 p. |
artikel |
77 |
Morphological and electrophysiological study in limb girdle sindrome (LGS):Possible correlations
|
Lori, S. |
|
1996 |
6 |
2 |
p. S10- 1 p. |
artikel |
78 |
Motor neuron disease
|
Mitchell, J.D. |
|
1996 |
6 |
2 |
p. 141- 1 p. |
artikel |
79 |
Muscle CT findings in 33 patients with myotonic muscular dystrophy
|
Cappellini, M. |
|
1996 |
6 |
2 |
p. S20- 1 p. |
artikel |
80 |
Muscle CT in peripheral neuropathies
|
Marconi, G. |
|
1996 |
6 |
2 |
p. S22- 1 p. |
artikel |
81 |
Muscle imaging in NMD
|
Phoenix, Joanne |
|
1996 |
6 |
2 |
p. S28- 1 p. |
artikel |
82 |
Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency
|
Villanova, Marcello |
|
1996 |
6 |
2 |
p. S32- 1 p. |
artikel |
83 |
Mutation analysis of the CLCN1 gene in ITALIAN patients affected by thomsen myotonia congenita and generalized becker myotonia
|
Sangiuolo, F. |
|
1996 |
6 |
2 |
p. S19- 1 p. |
artikel |
84 |
Mutation detection by double strand conformation analysis provides rapid molecular diagnosis for duchenne and becker muscular dystrophies
|
Saad, Fawzy A. |
|
1996 |
6 |
2 |
p. S11- 1 p. |
artikel |
85 |
Mutations in the emery-dreifuss muscular dystrophy gene and evidence for an autosomal form
|
Bione, Silvia |
|
1996 |
6 |
2 |
p. S15- 1 p. |
artikel |
86 |
Myoblast mediated gene transfer by intra-arterial injection in MDX mouse
|
Bresolin, N. |
|
1996 |
6 |
2 |
p. S24- 1 p. |
artikel |
87 |
Myoblast transfer in m.d.
|
Partridge, T.A. |
|
1996 |
6 |
2 |
p. S23- 1 p. |
artikel |
88 |
Myotonic dystrophy muscle shows decreased insulin receptor RNA: relationship to increased insulin resistance
|
Morrone, A. |
|
1996 |
6 |
2 |
p. S20- 1 p. |
artikel |
89 |
Necrotic myopathy and cutaneous vasculitis after intravenous streptokinase
|
Uncini, A. |
|
1996 |
6 |
2 |
p. S33- 1 p. |
artikel |
90 |
Neuromuscular complications in critically ill patients: proposal for a standardized protocol of clinical and neurophysiological evaluation
|
Macucci, Marco |
|
1996 |
6 |
2 |
p. S29- 1 p. |
artikel |
91 |
Neuromuscular complications of critical illness: electrophysiological studies
|
Cantini, A. |
|
1996 |
6 |
2 |
p. S28- 1 p. |
artikel |
92 |
Neuromuscular disorders: gene location
|
|
|
1996 |
6 |
2 |
p. I-IX nvt p. |
artikel |
93 |
Neuromuscular involvement in systemic sclerosis (SSc)
|
Lori, S. |
|
1996 |
6 |
2 |
p. S34- 1 p. |
artikel |
94 |
Neuropsychological profile in mitochondrial encephalomyopathies
|
Turconi, A.C. |
|
1996 |
6 |
2 |
p. S33- 1 p. |
artikel |
95 |
Non-muscle dystrophin isoforms: Proteins in search of a function
|
Comi, G.P. |
|
1996 |
6 |
2 |
p. S11- 1 p. |
artikel |
96 |
Optimised protein diagnosis in the recessive muscular dystrophies
|
Anderson, Louise V.B. |
|
1996 |
6 |
2 |
p. S8- 1 p. |
artikel |
97 |
Paroxysmal myoglobinuria in a single family with carnitine palmitoyltransferase deficiency
|
Marconi, R. |
|
1996 |
6 |
2 |
p. S34- 1 p. |
artikel |
98 |
Pathogenetic aspects of polymyositis
|
Emmi, L. |
|
1996 |
6 |
2 |
p. S25- 1 p. |
artikel |
99 |
Periodic hypokaliemic paralysis: clinical and genetic molecular studies of a large inbred family
|
Marconi, G. |
|
1996 |
6 |
2 |
p. S35- 1 p. |
artikel |
100 |
Peripheral nerve disorders II
|
Cull, Roger E. |
|
1996 |
6 |
2 |
p. 139- 1 p. |
artikel |
101 |
Peripheral neuropathy in vasculitic and idiopathic hypereosinophilia: Differential features
|
Massa, R. |
|
1996 |
6 |
2 |
p. S32- 1 p. |
artikel |
102 |
Phenotype-genotype correlation with aticipation assists DNA models, gene search and clinical application for FSH dystrophy (FSHD)
|
Lunt, P.W. |
|
1996 |
6 |
2 |
p. S14- 1 p. |
artikel |
103 |
Phenotypic variation of mitochondrial DNA A8344G mutation
|
Casali, C. |
|
1996 |
6 |
2 |
p. S31- 1 p. |
artikel |
104 |
Polymyositis and iflammatory muscle diseases classification
|
Serratrice, Georges |
|
1996 |
6 |
2 |
p. S24- 1 p. |
artikel |
105 |
Polymyositis in hepatitis c treated with interferon-alpha (IFN-alpha)
|
Uncini, A. |
|
1996 |
6 |
2 |
p. S26- 1 p. |
artikel |
106 |
Postural control in diabetic patients with distal symmetric polyneuropathy
|
Cincotta, M. |
|
1996 |
6 |
2 |
p. S24- 1 p. |
artikel |
107 |
Proximal myotonic myopathy: Mini-review of a recently delineated clinical disorder
|
Moxley III, Richard T. |
|
1996 |
6 |
2 |
p. 87-93 7 p. |
artikel |
108 |
Recent advances in the classification of congenital muscular dystrophies
|
Voit, Thomas |
|
1996 |
6 |
2 |
p. S17- 1 p. |
artikel |
109 |
Reduction in central motor drive in the chronic fatigue syndrome (CFS)
|
Sacco, P. |
|
1996 |
6 |
2 |
p. S25- 1 p. |
artikel |
110 |
Regulation of il-6 secretion by human myoblasts
|
Bartoccioni, E. |
|
1996 |
6 |
2 |
p. S32- 1 p. |
artikel |
111 |
β-sarcoglycan : Characterization and role in limb-girdle muscular dystrophy linked to 4q12
|
Broux, O. |
|
1996 |
6 |
2 |
p. S9- 1 p. |
artikel |
112 |
Screening for mutations in charcotmarie-tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP)
|
Löfgren, A. |
|
1996 |
6 |
2 |
p. S21- 1 p. |
artikel |
113 |
Search for the locus of LCCS, the lethal motoneuron disease of the fetus
|
Mäkelä-Bengs, Päivi |
|
1996 |
6 |
2 |
p. S22- 1 p. |
artikel |
114 |
Single fiber electromyography studies in healthy and diseased muscle, second edition
|
Murray, N.M.F. |
|
1996 |
6 |
2 |
p. 141-142 2 p. |
artikel |
115 |
Skeletal muscle differentiation is not disturbed in lccs despite of spinal motoneuron degeneration
|
Vuopala, K. |
|
1996 |
6 |
2 |
p. S21- 1 p. |
artikel |
116 |
Spinal muscular atrophy 32nd ENMC international workshop Naarden, The Netherlands, 10–12 March 1995
|
Munsat, T. |
|
1996 |
6 |
2 |
p. 125-127 3 p. |
artikel |
117 |
SSCP analysis of the emerin gene
|
Politano, Luisa |
|
1996 |
6 |
2 |
p. S15- 1 p. |
artikel |
118 |
Survey of LGMD2A mutations
|
Richard, I. |
|
1996 |
6 |
2 |
p. S9- 1 p. |
artikel |
119 |
The clinical phenotype in congenital muscular dystrophy
|
Dubowitz, Victor |
|
1996 |
6 |
2 |
p. S17- 1 p. |
artikel |
120 |
The duchenne muscular dystrophy gene: A giant gene with multiple products
|
Nudel, U. |
|
1996 |
6 |
2 |
p. S12- 1 p. |
artikel |
121 |
The European neuromuscular centre (ENMC) support and promotion of neuromuscular research
|
Rutgers, M. |
|
1996 |
6 |
2 |
p. S29- 1 p. |
artikel |
122 |
The exercise test in the diagnosis and follow-up of two patients with thyrotoxic periodic hypokalemic paralysis
|
Briccoli Bati, M. |
|
1996 |
6 |
2 |
p. S35- 1 p. |
artikel |
123 |
The phenotype of chromosome 2P-linked limb-girdle muscular dystrophy
|
Mahjneh, I. |
|
1996 |
6 |
2 |
p. S7- 1 p. |
artikel |
124 |
Thymectomy in Myasthenia Gravis: immunocytochemical and immunological aspects
|
Paolucci, R. |
|
1996 |
6 |
2 |
p. S27- 1 p. |
artikel |
125 |
Tissue oxygenation in muscular dystrophy patients by near infrared spectroscopy
|
Quaresima, V. |
|
1996 |
6 |
2 |
p. S29- 1 p. |
artikel |
126 |
Toward a molecular epidemiology of DMD/BMD ?
|
Danieli, G.A. |
|
1996 |
6 |
2 |
p. S10- 1 p. |
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Bushby, K. |
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1996 |
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p. S8- 1 p. |
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Marconi, G. |
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1996 |
6 |
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p. S26- 1 p. |
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Marconi, G. |
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1996 |
6 |
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p. S27- 1 p. |
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Grippo, A. |
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1996 |
6 |
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p. S33- 1 p. |
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Nobbio, L. |
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1996 |
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Kurek, J.B. |
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Marbini, A. |
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1996 |
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Thomas, Nick |
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1996 |
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p. 129-132 4 p. |
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