561 results on '"M. Zappia"'
Search Results
2. Experimental determination of surface thermal expansion and electron-phonon coupling constant of 1T-PtTe2
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Anemone G., Garnica M., Zappia M., Aguilar P.C., Al Taleb A., Kuo C.-N., Lue C.S., Politano A., Benedek G., De Parga A.L.V., Miranda R., Farías D.
- Published
- 2020
3. MALDI-MS CEREBROSPINAL FLUID (CSF) N-GLYCAN PROFILES IN NEURODEGENERATIVE DISEASES
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A. Palmigiano, A. Messina, F. Esposito, R. Barone, G. Mostile, A. Nicoletti, L. Sturiale, D. Romeo, C. Sanfilippo, M. Zappia, and D. Garozzo
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MALDI MS ,PD ,N-glycans ,CSF ,AD - Abstract
Glycosylation is a key post-translational protein modification in different biological functions such as cellular adhesion, recognition and signalling, and changes in protein glycosylation have been recognized in different neurodegeneration disorders [1]. Alzheimer's Disease (AD) and Parkinson's Disease (PD) are the most common neurodegenerative diseases. Both pathologies are multifactorial diseases presenting clinically heterogeneous symptoms and prognosis and ultimately resulting in neurons loss of functions and death. AD and PD are diagnosed by clinical and neuropsychological criteria, only proved by post-mortem autopsy. Therefore, there is a great need of diagnostic tools able of detecting the diseases in their early stages when preventative therapies could ameliorate patients' conditions before irreversible neuronal damages. We performed Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry (MALDI-MS) CSF N-glycosylation analysis of released and permethylated N-glycans from a cohort including 21 AD, 11 mild cognitive impairment (MCI), 19 PD patients and 19 control subjects (age- and gender-matched). PD-CSF spectra denoted a significant increase of high-mannose 5 (M5, m/z 1579.8), agalactosylated biantennary (G0, m/z 1661.8), agalactosylated bisected biantennary (G0B, m/z 1906.9) bisected, agalactosylated core fucosylated N-glycans (G0BF, m/z 2081.0). Although no unique profile emerged for AD and MCI, principal component analysis (PCA) allows to separate AD and MCI in two categories, according to bisecting-N-glycans relative intensities. AD1 and MCI1 showed significant increase of bisecting structures and an overall decrease of sialylated species compared to healthy controls, while AD2 and MCI2 showed a slightly reduction of those species. Interestingly, the observed divergences in MCI1 and MCI2 glycosylation profiles reflected the different clinical follow-up of the respective class of patients: 5 MCI1 patients out 5 converted to AD within 36 months from diagnosis, while all the MCI2 subjects (6 out 6) remained stable over the time, suggesting that increasing amount of N-glycans with bisected GlcNAc is a biochemical hallmark of AD in the pre-dementia phase [2]. MALDI-MS CSF N-glycome profiling enabled detection of peculiar changes in subject affected by neurodegenerative diseases, helpful in monitoring diseases development and progression, thus representing a source of potential biomarkers and therapeutic targets.
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- 2020
4. Therapeutic management of complicated Parkinson’s disease: clinicalapplication of the Motor Fluctuation Indices
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R. Bonomo, G. Mostile, A. Nicoletti, M. Zappia, Bonomo, R, Mostile, G, Nicoletti, A, and Zappia, M
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Levodopa ,Parkinson’s disease ,Unified Parkinson’s Disease Rating Scale ,Motor fluctuation ,Wearing-off - Published
- 2019
5. The cerebrospinal fluid (CSF) N-glycome as a novel biomarker of Parkinson's disease. A mass spectrometry-based CSF n-glycosylation study of patients affected by Parkinson's disease
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A. Palmigiano, A. Messina, F. Esposito, R. Barone, G. Mostile, A. Nicoletti, L. Sturiale, D.A. Romeo, D. Garozzo, and M. Zappia
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Parkinson's disease ,CSF ,N-glycosylation - Abstract
Parkinson's Disease (PD) is a clinically heterogeneous, multifactorial, age-related neurodegenerative disorder. PD is characterized by some pathological features such as cytoplasmic Lewy bodies accumulation in substantia nigra pars compacta, loss of dopaminergic neurons, inflammation, mitochondrial dysfunctions, that lead to neuronal degeneration and death. Glycosylation is a common post-translational protein modification with multiple biological functions. Glycosylation changes have been recently found in serum of patients with PD. However, N-glycosylation profiling in PD cerebrospinal fluid (CSF glycome) is still almost unexplored. We aimed to study CSF glycome in PD in order to identify potential glycosylation changes associated with PD. We performed Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry (MALDI MS) CSF N-glycosylation analysis of released and permethylated N-glycans from a cohort including 19 PD patients and 19 control subjects (age- and gender-matched). Control CSF spectra were characterized by a base peak at 2792.4 Da, corresponding to a biantennary A2 complex N-glycan. Spectra from PD-CSF denote a significant increase of high-mannose 5 (M5, m/z 1579.8), agalactosylated biantennary (G0, m/z 1661.8), agalactosylated bisected biantennary (G0B, m/z 1906.9) bisected, agalactosylated core fucosylated N-glycans (G0BF, m/z 2081.0). CSF N-glycome could shed new light on the pathological mechanisms that lead to the disease development and progression in PD.
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- 2019
6. Therapeutic management of complicated Parkinson’s disease: clinical application of the motor fluctuation indices
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R. Bonomo, G. Mostile, A. Nicoletti, M. Zappia, Bonomo, R, Mostile, G, Nicoletti, A, and Zappia, M
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Levodopa ,Parkinson’s disease ,Unified Parkinson’s Disease Rating Scale ,Motor fluctuation ,Wearing-off - Published
- 2019
7. Comparison of genioglossus muscle activity and efficiency of dexmedetomidine or propofol during drug-induced sleep endoscopy in patients with obstructive sleep apnea/hypopnea syndrome
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P, Murabito, A, Serra, M, Zappia, L, Maiolino, S, Cocuzza, S, Castorina, E, D'Amico, G, Sciacca, and P, Di Mauro
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Adult ,Male ,Sleep Apnea, Obstructive ,Electromyography ,Polysomnography ,Respiration ,Endoscopy ,Middle Aged ,Treatment Outcome ,Tongue ,Drug-induced sleep endoscopy ,Electromyography of genioglossus muscle ,Humans ,Hypnotics and Sedatives ,Female ,Pharmacology (medical) ,Muscle Strength ,Prospective Studies ,Dexmedetomidine ,Obstructive sleep apnea hypopnea syndrome ,Propofol ,Sleep-disordered breathing ,Muscle, Skeletal ,Aged - Abstract
The purpose of this study is to evaluate the haemodynamic and respiratory effects of dexmedetomidine vs. propofol in patients with OSAHS during the drug-induced sleep endoscopy (DISE), and analyze simultaneously the electromyography of genioglossus muscle.We conducted a study on 50 patients with OSAHS; patients were subjected to DISE with simultaneous polygraphic cardiorespiratory measurement and electromyography of genioglossus muscle. Patients undergoing DISE were divided in two groups: in Group A (19 M; 8 W) was administered propofol TCI and in Group B (16 M; 7 W) was administered dexmedetomidine TCI.In Group A, a mean minimal SpO2 decreasing of 3.7% (p=0.000) and a mean SpO2 decreasing of 1.6% (p 0.001) was noticed, while there was an increase in BP20 of 14.8% (p=0.000) and HR20 of 11.1% (p=0.000). In Group B, it was showed a decreasing of mean minimal SpO2 and mean SpO2 values, about 1.8% (p=0.000) and 1.1% (p 0.009) respectively, while there was an increase of BP20 and HR20, about 8.7% (p=0.000) and 8% (p 0.002), respectively. Despite EMG activity comparing spontaneous sleep with propofol-DISE, there is a statistically significative change for the amplitude (p=0.040) and an increase of 7.01% for the area under the curve (AUC). Comparing spontaneous sleep with dexmedetomidine-DISE induced one, there is only an increase of 25.87% in the AUC.A greater worsening of the cardio-respiratory basal values was noted after sleep induction with Propofol and same results were obtained confronting EMG of genioglossus muscle data.
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- 2019
8. Therapeutic management of complicated Parkinson’s disease: clinicalapplication of the Motor Fluctuation Indices
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Bonomo, R, Mostile, G, Nicoletti, A, Zappia, M, R. Bonomo, G. Mostile, A. Nicoletti, M. Zappia, Bonomo, R, Mostile, G, Nicoletti, A, Zappia, M, R. Bonomo, G. Mostile, A. Nicoletti, and M. Zappia
- Published
- 2019
9. Therapeutic management of complicated Parkinson’s disease: clinical application of the motor fluctuation indices
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Bonomo, R, Mostile, G, Nicoletti, A, Zappia, M, R. Bonomo, G. Mostile, A. Nicoletti, M. Zappia, Bonomo, R, Mostile, G, Nicoletti, A, Zappia, M, R. Bonomo, G. Mostile, A. Nicoletti, and M. Zappia
- Published
- 2019
10. Static postural control disturbances among the different multiple sclerosis phenotypes: A Neurocom Balance Manager
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V, Cimino, C G, Chisari, G, Raciti, A, Pappalardo, M, Zappia, and F, Patti
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Adult ,Male ,Multiple Sclerosis, Relapsing-Remitting ,Exercise Test ,Humans ,Female ,Middle Aged ,Multiple Sclerosis, Chronic Progressive ,Postural Balance - Abstract
The computerized stabilometric platform can be used and privileged over clinical scales, as self-administered questionnaires to asses postural control and balance evaluation in Multiple sclerosis (MS). Aim of our study was to evaluate static postural control assessed by Neurocom Balance Manager® through the modified Clinical Test of Sensory Interaction on Balance (mCTSIB) in relapsing-remitting MS (RRMS), progressive MS (PMS) and CIS, compared to healthy controls (HC).We screened MS patients consecutively referring to our MS Center at University of Catania, during July 2013-June 2014 diagnosed as CIS, RRMS and PMS. All MS patients underwent clinical and neurological evaluations and a complete postural exam by Neurocom Balance Manager® in order to evaluate Center of Pressure (COP), through mCTSIB. We evaluated the following parameters: Total Path Length-open eyes (TPL-OE), Total Path Length-closed eyes (TPL-CE), Sway Area-open eyes (SA-OE), Sway Area-closed eyes (SA-CE), Mean sway velocity-open eyes (MSV-OE), Mean sway velocity-closed eyes (MSV-CE). Additionally, patients were tested by Berg balance scale (BBS) for balance and Barthel Index (BI) for disability outcomes.Out of 170 MS patients assessed for eligibility, 163 met the inclusion/exclusion criteria and were finally enrolled. All balance parameters were found more impaired in MS group compared to controls and CIS. Moreover, no differences in terms of balance assessment were found between HC and CIS. The correlation analysis showed that BBS was strongly associated to SA-OE, SA-CE, TPL-OE and MSV-OE. We also found a correlation between BI and SA-CE.Our study revealed significant differences among HCs, CIS and MS. MS, especially PMS, exhibit the worst balance performances especially in EC trials. The higher correlation between balance parameters, especially sway area, and BBS score confirmed the reliability and sensibility of mCTSIB assessment in evaluating static postural control in MS patients.
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- 2018
11. SAT0401 Prevalence of ultrasonographic lower and upper enthesitis in patients with inflammatory bowel disease
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M Zappia, M. Verde, Giovanna Cuomo, M Romano, and D Sgambato
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medicine.medical_specialty ,Achilles tendon ,Bursitis ,business.industry ,Enthesitis ,medicine.disease ,Inflammatory bowel disease ,Gastroenterology ,Ulcerative colitis ,digestive system diseases ,medicine.anatomical_structure ,Internal medicine ,Statistical significance ,medicine ,Upper limb ,medicine.symptom ,business ,Irritable bowel syndrome - Abstract
Background Spondyloarthritis (SpA) occurs in up to 20% of patients with inflammatory bowel disease (IBD) [1]. Symptomatic enthesitis is a characteristic feature of SpA and represents an early sign of SpA [2]. The prevalence of enthesitis in patients with IBD is not known. Objectives This study was designed to evaluate whether patients with IBD showed an increased prevalence of entheseal involvement, even in the absence of clinical symptoms. Methods Thirty-five IBD patients (25 M and 10 F, median age 41 yrs), 25 with Crohn9s disease (CD) and 10 with ulcerative colitis (UC), all with moderate intestinal activity, and 22 (13 M and 12 F, median age 44 yrs) control subjects with irritable bowel syndrome underwent a thorough clinical evaluation followed by entheses ultrasonography of upper limb (brachial triceps) and lower limb (quadriceps, proximal and distal rotuleus, Achilles tendon and plantar fascia). The Madrid sonographic entheses index (MASEI) was used to score entheses abnormalities [thickness, enthesophytosis, bursitis, erosions with and without power doppler (PD)]. Correlation between IBD features (type, duration and activity), age, sex and MASEI score was assessed with nonlinear Spearman9s rho. Significance of differences was assessed by chi-square test. The level of statistical significance of differences was set at p Results All of 35 patients with IBD presented at least one entheses alteration with a mean MASEI of 5.43 (thickness 57.1%, enthesophytosis 42.8%, bursitis 0%, erosions 0%, PD abnormalities 14.2%) vs 3 patients of control group (enthesophytosis 14%) (p Conclusions 1) IBD patients showed a significantly higher prevalence of early entheses involvement, even in the absence of clinical symptoms; 2) the entity of entheses alteration as assessed by MASEI did not correlate with type, duration and activity of IBD; 3) age was the only variable which significantly correlated with ultrasonographic entheses involvement.; 4) we speculate that IBD patients should undergo ultrasonography evaluation of entheses and, if any alteration, be followed up for early detection of SpA. References Harbord M et al. J Crohns Colitis. 2016. Sakellariou G et Clin Exp Rheumatol. 2014. Disclosure of Interest None declared
- Published
- 2017
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12. PREVALENCE OF ULTRASONOGRAPHIC LOWER AND UPPER ENTHESITIS IN PATIENTS WITH INFLAMMATORY BOWEL DISEASE
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G. Cuomo, M. Zappia, M. Verde, D. Sgambato, M. Romano, Cuomo, G., Zappia, M., Verde, M., Sgambato, D., and Romano, M.
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- 2017
13. Gender effect on non-motor symptoms in Parkinson's disease: are men more at risk?
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A. Nicoletti a, R. Vasta a, G. Mostile a, G. Nicoletti b, G. Arabia c, G. Iliceto d, P. Lamberti d, R. Marconi e, L. Morgante f, P. Barone g, A. Quattrone b, c, and M. Zappia a
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0301 basic medicine ,Male ,Sleep Wake Disorders ,medicine.medical_specialty ,Parkinson's disease ,Neurology ,Gastrointestinal Diseases ,Population ,Neurological examination ,Non-motor symptoms ,03 medical and health sciences ,0302 clinical medicine ,Gender effect ,Risk Factors ,Internal medicine ,Medicine ,Parkinson's disease/Parkinsonism ,Humans ,education ,Depression (differential diagnoses) ,Aged ,education.field_of_study ,Depressive Disorder ,Sex Characteristics ,Mini–Mental State Examination ,medicine.diagnostic_test ,business.industry ,Case-control study ,Parkinson's disease/Parkinsonism, Case-control studies, Gender effect, Non-motor symptoms ,Parkinson Disease ,Middle Aged ,medicine.disease ,Case-control studies ,Case-Control Studies ,Female ,Geriatrics and Gerontology ,Neurology (clinical) ,030104 developmental biology ,Physical therapy ,business ,030217 neurology & neurosurgery ,Sex characteristics - Abstract
Introduction Several gender differences have been reported in Parkinson's Disease (PD). We evaluated the burden of non-motor symptoms (NMS) in PD and the possible gender differences in their occurrence. Methods The FRAGAMP study is a large multicenter case-control study. PD patients and controls underwent a face-to-face interview and a neurological examination performed by trained neurologists. Presence of NMS was investigated using a standardized questionnaire; cognitive impairment and depression were assessed using the Mini Mental State Examination and the Hamilton Depression Rating Scale respectively. Results 585 PD patients (59.5% men) and 481 controls (34.9% men) were enrolled in the study. All NMS were significantly more frequent among PD patients than controls. PD women showed a significantly higher frequency of depression and urinary disturbances than parkinsonian men; a close frequency among PD women and men was recorded for hallucination, cognitive impairment and sleep disorders. Nonetheless, with respect to the control population, according to logistic regression stratified by sex and adjusted by age, PD men showed a stronger positive significant association with almost all NMS compared to women, excepting for urinary disturbances. The strongest association among PD men was recorded for cognitive impairment (adjusted OR 5.44 for men and 2.82 for women) and depression (adjusted OR 30.88 for men and 12.72 for women). Conclusions With respect to the general population, presence of NMS was stronger associated with male gender. Our data suggest that the presence of NMS among PD men is more strictly due to the neurodegenerative processes related to PD.
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- 2016
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14. Diagnostic value of computed tomography colonography (CTC) after incomplete optical colonoscopy
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Nicola Maggialetti, Claudia Lucia Piccolo, M. D'Innocenzo, Carbone M, M. Zappia, Raffaella Capasso, D. Pinto, Alfonso Reginelli, Luca Brunese, A. Laporta, S. Schipani, Maggialetti, N, Capasso, R., Pinto, D., Carbone, M., Laporta, A., Schipani, S., Piccolo, C. L., Zappia, M., Reginelli, Alfonso, D'Innocenzo, M., and Brunese, L.
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Adult ,Male ,medicine.medical_specialty ,Abdominal pain ,Supine position ,Virtual colonoscopy ,Sedation ,Extracolonic findings ,030218 nuclear medicine & medical imaging ,Optical colonoscopy ,03 medical and health sciences ,Colonic Diseases ,0302 clinical medicine ,Computed Tomography Colonography ,CT colonography ,medicine ,80 and over ,Humans ,Aged ,Retrospective Studies ,Aged, 80 and over ,medicine.diagnostic_test ,business.industry ,General Medicine ,Colonography ,Colonoscopy ,Middle Aged ,CTC ,Extracolonic finding ,digestive system diseases ,Prone position ,Contrast medium ,030220 oncology & carcinogenesis ,Colorectal Neoplasms ,Female ,Colonography, Computed Tomographic ,Surgery ,Radiology ,medicine.symptom ,business ,Computed Tomographic - Abstract
Introduction This study evaluated the role of computed tomography colonography (CTC) in patients who previously underwent incomplete optical colonoscopy (OC). We analyzed the impact of colonic lesions in intestinal segments not studied by OC and extracolonic findings in these patients. Methods Between January 2014 and May 2015, 61 patients with a history of abdominal pain and incomplete OC examination were studied by CTC. CTCs were performed by 320-row CT scan in both the supine and the prone position, without intravenous administration of contrast medium. In all patients both colonic findings and extracolonic findings were evaluated. Results Among the study group, 24 CTC examinations were negative for both colonic and extracolonic findings while 6 examinations revealed the presence of both colonic and extracolonic findings. In 24 patients CTC depicted colonic anomalies without extracolonic ones, while in 7 patients it showed extracolonic findings without colonic ones. Discussion CTC is a noninvasive imaging technique with the advantages of high diagnostic performance, rapid data acquisition, minimal patient discomfort, lack of need for sedation, and virtually no recovery time. CTC accurately allows the evaluation of the nonvisualized part of the colon after incomplete OC and has the distinct advantage to detect clinically important extracolonic findings in patients with incomplete OC potentially explaining the patient's symptoms and conditioning their therapeutic management. Conclusion CTC accurately allows the assessment of both colonic and extracolonic pathologies representing a useful diagnostic tool in patients for whom complete OC is not achievable.
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- 2016
15. Our experience in the surgical treatment of Morton’s metatarsalgia with a minimally invasive surgery technique
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O. Catani, F. Sergio, M. Zappia, G. Corrado, and A. D’Apice
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Metatarsalgia ,medicine.medical_specialty ,Percutaneous ,business.industry ,medicine.medical_treatment ,Morton’s metatarsalgia ,Morton's neuroma ,medicine.disease ,Osteotomy ,Neuroma ,Distal metatarsal metaphyseal osteotomy (DMMO) ,Interdigital nerve compression syndrome ,Morton’s neuroma ,Neurolysis of common plantar digital nerve ,Surgical treatment of Morton’s neuroma ,Surgery ,medicine.anatomical_structure ,medicine ,Ligament ,Orthopedics and Sports Medicine ,business ,Reduction (orthopedic surgery) ,Neurolysis - Abstract
The authors, while analyzing the nosologic framework of Civinini-Morton metatarsalgias, present their surgery case-study of 31 patients treated with a minimally invasive percutaneous technique. In particular, the neurolysis of the neuroma was performed through the percutaneous incision of the transverse intermetatarsal ligament (TIML) and through the distal metaphyseal osteotomy of the metatarsals contiguous to the involved intermetatarsal space, all of them being anatomical elements which identify the arch of the involved metatarsal canal. Of pivotal importance are the results of radiographic tests showing, in all the cases, a macroscopic reduction of the diameter of the nerve affected by nerve compression neuropathy. Furthermore, a remarkable percentage of the patients (70%) were exclusively treated with the osteotomy of the 3rd metatarsal. Such unusual procedure proved to further facilitate the postoperative course of the patient and the overcoming of some complications. The encouraging results obtained in this kind of surgical treatment place, in the authors’ opinion, this technique among the most effective minimally invasive surgical treatments.
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- 2015
16. Incidence and prevalence of amyotrophic lateral sclerosis in Sicily: a population based study
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CELLURA, Eleonora, RAGONESE, Paolo, M. ZAPPIA, PICCOLI, Federico, LA BELLA, Vincenzo, PATTI, Federico, GMAJORANA, E CELLURA, P RAGONESE, F PATTI G MAJORANA, M ZAPPIA, PICCOLI F, and V LA BELLA
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ALS - Incidence - Prevalence - Published
- 2008
17. Apparent diffusion coefficient of the superior cerebellar peduncle differentiates progressive supranuclear palsy from PD
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G. Nicoletti, F. Condino, M. Morelli, F. Novellino, S. Paglionico, P. Lanza, D. Messina, P. Barone, L. Morgante, M. Zappia, A. Quattrone, TONON, CATERINA, LODI, RAFFAELE, MANNERS, DAVID NEIL, MALUCELLI, EMIL, BARBIROLI, BRUNO, G. Nicoletti, C. Tonon, R. Lodi, F. Condino, D. N. Manner, E. Malucelli, M. Morelli, F.Novellino, S. Paglionico, P. Lanza, D. Messina, P. Barone, L. Morgante, M. Zappia, A. Quattrone, and B. Barbiroli
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- 2007
18. ADC Measurements in the Middle Cerebellar Peduncle Allows the Differentiation of MSA from PD and PSP
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TONON, CATERINA, LODI, RAFFAELE, MALUCELLI, EMIL, MANNERS, DAVID NEIL, BARBIROLI, BRUNO, G. Nicoletti, F. Fera, F. Condino, P. Pugliese, G. Arabia, M. Zappia, A. Quattrone, C. Tonon, R. Lodi, G. Nicoletti, F. Fera, E. Malucelli, D. N. Manner, F. Condino, P. Pugliese, G. Arabia, M. Zappia, A. Quattrone, and B. Barbiroli
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- 2006
19. Diffusion- weighted imaging discriminates MSA-P from PD
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G. Nicoletti, F. Condino, L. Morgante, P. Barone, M. Zappia, A. Quattrone, TONON, CATERINA, LODI, RAFFAELE, MALUCELLI, EMIL, MANNERS, DAVID NEIL, BARBIROLI, BRUNO, G. Nicoletti, C. Tonon, R. Lodi, E. Malucelli, F. Condino, D. Manner, L. Morgante, P.Barone, M Zappia, B Barbiroli, and A Quattrone
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- 2006
20. Apparent diffusion coefficient measurements of the middle cerebellar peduncle differentiates MSA from PD and PSP
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G. Nicoletti, F. Fera, F. Condino, P. Pugliese, G. Arabia, M. Zappia, A. Quattrone, TONON, CATERINA, LODI, RAFFAELE, MALUCELLI, EMIL, BARBIROLI, BRUNO, G. Nicoletti, C. Tonon, R. Lodi, F. Fera, E. Malucelli, F. Condino, P. Pugliese, G. Arabia, M. Zappia, B. Barbiroli, and A. Quattrone
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- 2005
21. Regulation of Deactivation by an Amino Terminal Domain in Human Ether-à-go-go –related Gene Potassium Channels
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Matthew C. Trudeau, Jinling Wang, Angelina M. Zappia, and Gail A. Robertson
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ERG1 Potassium Channel ,Patch-Clamp Techniques ,Potassium Channels ,cysteine modification ,Physiology ,hERG ,Gating ,Article ,Ventricular action potential ,Xenopus laevis ,Transcriptional Regulator ERG ,Animals ,Humans ,Point Mutation ,Repolarization ,Cysteine ,inactivation ,Patch clamp ,Cation Transport Proteins ,Ion channel ,biology ,Chemistry ,ion channels ,Ether-A-Go-Go Potassium Channels ,Potassium channel ,Protein Structure, Tertiary ,DNA-Binding Proteins ,Biochemistry ,Potassium Channels, Voltage-Gated ,gating ,Mutagenesis, Site-Directed ,Oocytes ,Potassium ,Shaker Superfamily of Potassium Channels ,Trans-Activators ,biology.protein ,Biophysics ,Ion Channel Gating - Abstract
Abnormalities in repolarization of the cardiac ventricular action potential can lead to life-threatening arrhythmias associated with long QT syndrome. The repolarization process depends upon the gating properties of potassium channels encoded by the human ether-à-go-go–related gene (HERG), especially those governing the rate of recovery from inactivation and the rate of deactivation. Previous studies have demonstrated that deletion of the NH2 terminus increases the deactivation rate, but the mechanism by which the NH2 terminus regulates deactivation in wild-type channels has not been elucidated. We tested the hypothesis that the HERG NH2 terminus slows deactivation by a mechanism similar to N-type inactivation in Shaker channels, where it binds to the internal mouth of the pore and prevents channel closure. We found that the regulation of deactivation by the HERG NH2 terminus bears similarity to Shaker N-type inactivation in three respects: (a) deletion of the NH2 terminus slows C-type inactivation; (b) the action of the NH2 terminus is sensitive to elevated concentrations of external K+, as if its binding along the permeation pathway is disrupted by K+ influx; and (c) N-ethylmaleimide, covalently linked to an aphenotypic cysteine introduced within the S4–S5 linker, mimics the N deletion phenotype, as if the binding of the NH2 terminus to its receptor site were hindered. In contrast to N-type inactivation in Shaker, however, there was no indication that the NH2 terminus blocks the HERG pore. In addition, we discovered that separate domains within the NH2 terminus mediate the slowing of deactivation and the promotion of C-type inactivation. These results suggest that the NH2 terminus stabilizes the open state and, by a separate mechanism, promotes C-type inactivation.
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- 1998
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22. HOMOZIGOUS DJ-1 MUTATION IN A FAMILY FROM SOUTHERN ITALY WITH AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX
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G. ANNESI, P. TARANTINO, F. ANNESI, D. CIVITELLI, IC CIR CANDIANO, EV DE MARCO, S. CARRIDEO, M. ZAPPIA, A. QUATTRONE, SAVETTIERI, Giovanni, D'AMELIO, Marco, RAGONESE, Paolo, FIERRO, Brigida, PICCOLI, Tommaso, LA BELLA, Vincenzo, PICCOLI, Federico, G ANNESI, G SAVETTIERI, P TARANTINO, F ANNESI, D CIVITELLI, M DAMELIO, P RAGONESE, IC CIR CANDIANO, B FIERRO, T PICCOLI, LA BELLA V, F PICCOLI, EV DE MARCO, S CARRIDEO, M ZAPPIA, and A QUATTRONE
- Published
- 2004
23. Exome sequencing reveals two compound heterozygous DDHD2 mutations in a non consanguineous family with ARHSP-TCC
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Magariello, L. Citrigno, V.Sofia, A. Patitucci, FL. Conforti, R. Mazzei, C. Ungaro, I. Pappalardo, M. Zappia, M. Gonzalez, S. Zuchner, and M. Muglia
- Published
- 2014
24. Ankle fracture: Radiographic approach according to the Lauge-Hansen classification
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A, Russo, A, Reginelli, M, Zappia, C, Rossi, G, Fabozzi, O, Fabozzi, M, Cerrato, L, Macarini, F, Coppolino, Russo, Anna, Reginelli, Alfonso, Zappia, M., Rossi, C., Fabozzi, O., Cerrato, Marcella, Macarini, L., and Coppolino, F.
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medicine.medical_specialty ,Intra-Articular Fractures ,Radiography ,Intra-Articular Fracture ,Reproducibility of Result ,Ankle Fractures ,Supination ,Ankle trauma ,X-ray ,Age Distribution ,Risk Factors ,Ankle Injurie ,medicine ,Humans ,Pronation ,Orthopedics and Sports Medicine ,Ankle Injuries ,Sex Distribution ,Observer Variation ,business.industry ,Incidence ,Risk Factor ,Reproducibility of Results ,Occult ,Ankle Fracture ,Surgery ,medicine.anatomical_structure ,Italy ,Orthopedic surgery ,Fracture (geology) ,Age distribution ,Ankle ,Lauge-Hansen classification ,business ,Foot (unit) ,Human - Abstract
Ankle fractures account for 9 % of fractures (Clare in Foot Ankle Clin 13(4):593-610, 1) representing a significant portion of the trauma workload; proximal femoral fractures are the only lower limb fracture to present more frequently. Ankle fractures have a bimodal age distribution with peaks in younger males and older females (Arimoto and Forrester in AJR Am J Roentgenol 135(5):1057-1063, 2). There has been threefold increase in the incidence among elderly females over the past three decades (Haraguchi and Armiger in J Bone Joint Surg Am 91(4):821-829, 3). In 1950, Lauge-Hansen devised a classification of ankle fractures based on the position of the foot and the deforming force at the time of injury. This has been widely accepted by orthopedists, but is not in general use by radiologists. Identification of the fractures and classification of the type of injury allows diagnosis of the otherwise occult ligamentous injuries. Three radiographic views of the ankle (anteroposterior, mortise, and lateral) are necessary to classify an injury with the Lauge-Hansen system. Two additional criteria are also necessary: the position of the foot at the time of injury and the direction of the deforming force.
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- 2013
25. Frequency and severity of headache is worsened by Interferon-β therapy in patients with multiple sclerosis
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F, Patti, A, Nicoletti, A, Pappalardo, A, Castiglione, S, Lo Fermo, S, Messina, E, D'Amico, V, Cimino, and M, Zappia
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Adult ,Male ,Multiple Sclerosis, Relapsing-Remitting ,Migraine Disorders ,Tension-Type Headache ,Headache ,Humans ,Female ,Interferon-beta ,Middle Aged - Abstract
The relationship between multiple sclerosis (MS) and headache (HA) is not well known. It was reported that interferon-beta (IFNβ) could induce or worsen HA.To evaluate the impact of IFNβ treatment on HA and the relationship between HA and the various commercial preparations of IFNβ in mildly disabled patients with MS.A specific questionnaire was administered to 357 relapsing-remitting MS patients. Characteristics of HAs were considered, including the temporal relationships with IFNβ administration.One hundred and seventeen patients were treated with weekly intramuscular injections of interferon IFNβ-1a (Avonex(®)), 84 with subcutaneous injections of IFNβ-1b (Betaferon(®)) every other day, 48 and 108 with three times weekly subcutaneous injections of IFNβ-1a (Rebif(®)) 22 mcg or IFNβ-1a (Rebif(®)) 44 mcg, respectively. Three hundred and fourteen patients were affected by HA, and among them, 219 patients suffered of pre-existing HA. In this latter group, 121 subjects (55%) noted a worsening of their HA after starting IFNβ therapy; this was more frequently reported by patients treated with Avonex(®) and Rebif(®) 44. Ninety-five patients experienced new HA.IFNβ treatment could worsen HA in patients with pre-existing HA or cause the appearance of new HA. Among different IFNβ preparations, Rebif(®) 44 and Avonex(®) seemed to be more cephalalgic than the other drugs.
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- 2012
26. [(123) I]FP-CIT-SPECT asymmetry index to differentiate Parkinson's disease from vascular parkinsonism
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D, Contrafatto, G, Mostile, A, Nicoletti, V, Dibilio, L, Raciti, S, Lanzafame, A, Luca, A, Distefano, and M, Zappia
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Aged, 80 and over ,Male ,Brain Mapping ,Brain ,Neuroimaging ,Parkinson Disease ,Middle Aged ,Sensitivity and Specificity ,Diagnosis, Differential ,Cerebrovascular Disorders ,Humans ,Female ,Parkinson Disease, Secondary ,Radionuclide Imaging ,Aged ,Retrospective Studies - Abstract
Differential diagnosis between vascular parkinsonism (VP) and Parkinson's Disease (PD) is often difficult, due to the overlap in clinical presentation and the lack of specificity at neuroimaging. Aim of the study was to identify a possible reliable marker at SPECT imaging useful to distinguish the two conditions.We studied 20 PD, 20 VP and 20 essential tremor (ET) patients as control group, who had undergone a cerebral [(123) I] FP-CIT SPECT. A semiquantitative analysis was performed on DaTSCAN SPECT imaging and to establish the degree of asymmetry of the ligand uptake the Striatal Asymmetry Index (SAI) was used.The binding of the ligand in the most affected side resulted significantly lower in VP than in ET patients but higher compared to PD patients. SAI was significantly higher in PD compared to VP (P0.001) and ET (P0.001) groups. We found that a cut-off of SAI greater than 14.08 could differentiate PD from VP with a 100% specificity and a 50% sensitivity.SAI detected using [(123) I]FP-CIT SPECT can be used to differentiate VP and PD with a good degree of certainty.
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- 2012
27. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain
- Author
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H. Hattig, C. Delli Pizzi, M. C. Addonizio, Michelle Davis, A. R. Giovagnoli, L. Florensa, M. Roth, J. de Kruijk, Francisco Lacruz, Ph. Dewailly, A. Toygar, C. Avendano, P.P. De Deyn, J. F. Hurtevent, F. Lomeila, T. W. Wong, Gordon T. Plant, M. Bud, H. J. Willison, DH Miller, D. W. Langdon, R. Cioni, J. Servan, A. Kaygisiz, E. Racadot, D. B. Schens, E. Picciola, L. Falip, C. Bouchard, J. Jotova, A. Jorge-Santamaria, P. Misra, A. Dufour, C. P. Panagopoulos, A. Venneri, B. Sredni, B. Angelard, M. Janelidze, M. Carreno, J. Obenberger, J. Pouget, H. W. Moser, R. Kaufmann, J. A. Molina, D. Linden, A. Martin Urda, E. Uvestad, A. Krone, J. P. Cochin, J. Mallecourt, A. Cambon-Thomsen, K. Violleau, P. Osschmann, A. M. Durocher, E. Bussaglia, D. M. Danielle, H. Efendi, C. Van Broeckhoven, K. G. Jordan, W. Rautenberg, C. Iniguez, J. M. Delgado, Graham Watson, M. Lawden, Gareth J. Barker, K. Stiasny, James T. Becker, G. Campanella, E. Peghi, A. Poli, A. Haddad, T. Yamawaki, Giacomo P. Comi, S. Sotgiu, B. Ersmark, A. Pomes, M. Ziegler, P. Ferrante, P. Ruppi, H. KuÇukoglu, R. Bouton, U. K. Rinne, P. Vieregge, M. Dary, P. Giunti, Peter J. Goadsby, S. Jung, E. Secor, A. Steinberg, N. Vila, M. A. Hernandez, M. Cursi, A. Enqelhardt, A. Engelhardt, J. Veitch, F. Di Silverio, F. Arnaud, B. Neundörfer, R. Brucher, Dominique Caparros-Lefebvre, B. Meyer, Marianne Dieterich, M. H. Snidaro, R. Gomez, R. Cerbo, M. Ragno, J. M. Vance, S. Nemni, A. Caliskan, F. Barros, I. Velcheva, D. Ceballos-Baumann, V. Barak, A. Avila, N. Antonova, F. Resche, S. Pappata, L. Varela, S. R. Silveira Santos, A. Cammarota, L. Naccache, Y. Nara, E. Tournier-Lasserves, R. Mobner, T. Chase, A. Ensenyat, J. Ulrich, G. Giegerich, M. Rother, M. Revilla, N. Nitschke, K. Honczarenko, E. Basart Tarrats, J. Blin, B. Jacob, J. Santamaria, S. Knezevic, J. L. Castillo, M. Antem, J. Colomer, O. Busse, Didier Hannequin, S. Carrier, J. B. Ruidavets, C. Rozman, J. Bogoussslavsky, J. Pascual Calvet, E. Monros, J. M. Polo, M. Zucconl, Javier Muruzabal, R. R. Allen, R. Rivolta, K. Haugaard, A. Nespolo, K. Hoang-Xuang, G. Bussone, T. Avramidis, E. Corsini, Christiana Franke, T. Vinogradova, H. Boot, K. Vestergaard, G. H. Jansen, N. Argentino, M. Raltzig, W. Linssen, Mark B. Pepys, P. Roblot, L. Lauritzen, E. Fainardi, D. Morin, T. X. Arbizu Urdiain, J. Wollenhaupt, S. Bostantjopoulou, G. Pavesi, A. D. Forman, Giovanni Fabbrini, D. Jean, J. J. Archelos, M. I. Blanchs, M. Del Gobbo, Anna Carla Turconi, Ch. Derouesné, Elio Scarpini, A. Visbeck, P. Castejon, J. P. Renou, F. Mounier-Vehier, G. Potagas, Ch. Duyckaerts, A. Filla, R. Schneider, G. Ronen, K. Nagata, J. P. Vedel, A. Henneberg, G. van Melle, C. Baratti, H. Knott, M. C. Prevett, A. Bes, B. Metin, Jos V. Reempts, L. Martorell, Mefkure Eraksoy, H. O. Handwerker, D. S. Younger, O. Oktem, D. Frongillo, C. Soriano-Soriano, L. Niehaus, F. Zipp, A. Tartaro, S Newman, R. H. Browne, P. Davous, R. Sanchez, M. Muros, M. E. Kornhuber, A. Lavarone, M. Mohr, M. R. Garcia, S. Russell, H. Kellar-Wood, M. R. Tola, B. Ostermeyer, Ch. Tzekov, K. Sartor, E. B. Ringelstein, P. P. Gazzaniga, Paul Krack, H. Fidaner, H. Rico, T. Dbaiss, F. Alameda, E. Torchiana, L. Rumbach, I. Charques, J. M. Bogaard, C. D. Frith, L. J. Rappelle, R. Brenner, A. Joutel, K. Fuxe, G. HÄcker, M. J. Blaser, J. Valls-SolÇ, G. Ulm, M. Alberdi, A. Bock, F. W. Bertelsmann, U. Wieshmann, J. Visa, J. R. Lupski, D. D'Amico, L. M. P. Ramos, A. A. Vanderbark, R. Horn, M. Warmuth, Dietmar Kühne, Mark S. Palmer, C. Ehrenheim, E. Canga, S. Viola, O. Scarpino, P. Naldi, R. Almeida, A. A. Raymond, J. Gamez, Stephan Arnold, A. DiGiovanni, J. Dalmau, C. C. Chari, H. F. Beer, J. C. Koetsier, J. Iriarte, E. Yunis, J. Casadevall, E. Le Guern, E. Stenager, S. R. Benbadis, J. M. Warter, F. Burklin, I. Theodorou, L. Johannesen, G. A. Graveland, X. Leclerc, I. Vecchio, L. Ozelius, G. Nicoletti, R. K. Gherardi, E. Esperet, M. L. Delodovici, F. Cattin, F. Paiau, Giorgio Sacilotto, C. A. J. Broere, D. Chavdarov, J. P. Willmer, C. H. Hawkes, Th. Naegele, E. Ellie, E. Dartigues, M. J. Guardiola, S. Hesse, Z. Levic, Marco Rovaris, P. Saugeir-Veber, B. A. Yaqub, H. F. Durwen, R. Larumbe, J. Ballabrina, M. Sendtner, J. Röther, M. Horstink, C. Kluglein, M.P. Montesi, H. Apaydin, J. Montoya, E. Waubant, Ch. Verellen-Dunoulin, A. Nicolai, J. Lopez-Delval, R. Lemon, G. Cantinho, E. Granieri, A. Zeviani, Wolfgang H. Oertel, U. Ficola, V. Di Piero, V. Fragola, K. Sabev, M. V. Guitera, I. Turki, F. Bolgert, P. Ingrand, J. M. Gobernado, L. M. E. Grimaldi, S. Baybas, B. Eymard, Y. Rolland, Y. Robitaille, Ta. Pampols, P. J. Koehler, A. Carroacedo, J. Vilchez, S. Di Vittorio, I. R. Rise, T. Nagy, M. Kuffner, E. Palazzini, A. Ott, J. Pruim, T. X. Arbizu, E. Manetti, C. Cervera, S. Felber, G. Gursoy, J. Scholz, G. A. Buscaino, M. S. Chen, A. Pascual, J. Hazan, J. U. Gajda, J. G. Cea, G. Bottini, G. Damalik, F. Le Doze, G. Bonaldi, J. M. Hew, C. Messina, A. M. Kennedy, J. M. Carney, N. M. F. Murray, M. Parent, M. Koepp, V. Dimova, D. De Leo, K. Jellinger, G. Salemi, S. Mientus, M. L. Hansen, F. Mazzucchelli, J. Vieth, M. Mauri, E. Bartels, L. Johannsen, C. Humphreys, J. Emile, D. N. Landon, E. Kansu, R. Sanchez-Pernaute, Rsj Frackowiak, M. Gonzalez Torres, L. Oller, C. Machedo, J. Kother, M. Billiard, H. Durak, T. Schindler, A. Frank, A. Uncini, A. Sbriccoli, C. Farinas, D. W. Paty, N. Fast, A. T. Zangaladze, A. Kerkhofs, J. M. Pino Garcia, I. De la Fuente, B. Marini, L. Gomez, I. Rubio, Alessandra Bardoni, C. Brodie, P. Acin, U. Sliwka, S. A. Hawkins, S. Tardieu, F. Vitullo, J. M. Pereira Monteino, R. Gagliardi, T. Jezewski, A. Cano, T. Lempert, F. Abad Alegria, G. Rotondo, D. Ince, C. Martinez Parra, Y. Huang, H. Luders, Y. Steinvil, F. G. A. Van Der Meche, R. Bianchi, A. Sanchez, T. Sevilla, J. M. Ketelslegers, A. Domzal-Stryga, M. Pandolfo, M. O. Josse, K. W. Neff, I. Blanco, G. W. Bruyn, O. W. Witte, J. L. Thibault, G. Andersen, J. Pariset, A. Marcone, R. J. M. Lane, A. Hofman, M. Verin, T. Matilla, P. Bedoucha, J. Roche, M. Lai, M. Collard, A. Ugarte, F. Gallecho, D. Silbersweig, C. Kennard, J. P. Azulay, T. W. Ho, P. L. I. Dellemijn, R. Girardello, F. Baas, B. Voss, F. Rozenberg, E. M. Brocker, V. Stanev, A. A. J. Soeterboek, A. Marra, A. Rey, E. Ertem, M. Sawradewicz-Rybak, J. De Keyser, P. Cavallari, F. Proust, Y. Chevalier, H. C. Hansen, D. Leys, C. A. Davie, K. Hoang-Xuan, C. Bairati, H. van Crevel, Thomas T. Warner, B. Bompais, A. Dobbeleir, T Campbell, C. Macko, C. J. M. Klijn, M. Dussallant, T. P. Berlit, W. Rozenbaum, M. J. van den Bent, W. A. Rocca, M. Muller, H. Hundemer, U. Zifko, M. Campera, F. Drislane, D. Ranoux, T. M. Kloss, Anil Kumar, I. Ruolt, C. Bargnani, B. Marescau, N. A. Losseff, S. Notermans, B. Kint, E. T. Burke, C. Aykut, J. Matias Guiu, P. Maquet, T. Drogendijk, M. Leone, K. von Ammon, M. Pepeliarska, C. Prados, L. DiGiamberardino, T. Logtenberg, G. Lenoir, I. Castaldo, Damhaut, M. Radionova, G. Sirabian, R. Navon, Giovanni Antonini, K. Al Moutaery, E. Chamas, R. Schönhuber, M. Giannini, B. Debilly, I. Labatut, H. Henon, J. A. Egido, M. Baudrimont, J. N. Lorenzo, J. E. C. Bromberg, R. Antonacci, J. J. Vilchez, T. Moulin, B. Rautenstrauss, Giovanni Meola, J. Noth, S Mammi, P. Laforet, F. Lopez, C. Gehring, S. Bort, G. Rancurel, D. Decamps, S. Kostadinova, Y. Shapira, B. Neundoerfer, D. Chavrot, M. Solimena, J. P. Salier, W. Deberdt, R. Hoff-Jörgensen, A. Messina, S. Meairs, G. Rosoklija, E. Nelis, I. Bertran, C. Ertekin, J. Lohmeyer, Mitermayer Galvao dos Reis, L. Calo, E. Maccagnano, A. P. Hays, J. Verlooy, M. G. Forno, T. Blanco, L. Bail, Gabriella Silvestri, J. Montero, F. Bertrand, R. T. Ghnassia, C. Besses, T. Sereghy, F. Shalit, G. Bogliun, S. Braghi, St. Baykouchev, C. Franke, A. Lasa, L. C. Archard, J. Kriebel, S. Shaunak, M. Nocito, Alexander Tsiskaridze, E. Manfredini, T. Seigal, David G. Gadian, M. Barlas, J. D. Degos, C. Seeber, J. Caemert, J. L. Mas, R. B. Pepinsky, M. G. D'Angelo, N. Baumann, S. Yorifuji, H. P. Endtz, M. A. Cassatella, R. A. C. Hughes, V. Golzi, A. Bittencourt, A. Ferreira, M. Sanson, C. Alper, M. Vermeulen, M. A. A. van Walderveen, E. Alexiou, C. H. Lucas, M. Fiorelli, Y. N. Debbink, R. Gil, S. Congia, T. Banerjee, J. M. Bouchard, A. N. Pinto, A. Ceballos-Baumann, G. Grollier, P. I. M. Schmitz, M. D. Catata, N. Lahat, N. S. Rao, P. Papathanasopoulos, J. Valls-Solé, D. Claus, G. Schroter, A. Castro, C. Videbaek, R. Martinez Dreke, A. D. Platts, M. Hermesl, A. C. PeÇanha-Martins, M. Cardoso Silva, P. Masnou, M. J. A. Tanner, Ch. Confavreux, B. Mishu, H. Rasmussen, L. Valenciano, Carlo Pozzilli, S. W. Li, V. Salzman, Y. Vashtang, Massimo Franceschi, M. Severo, G. Deuschl, S. Setien, G. Mariani, A. Protti, J. Castillo, M. J. B. Taphoorn, M. Frontali, I. Milonas, D. Decoq, J. A. Navarro, S. Castellvi-Pel, C. Ertikin, M. Urtasun, Y. Lajat, B. E. Kendall, E. Verdu, B. Gueguen, E. Boisen, R. Couderc, A Danek, JM Stevens, F. Nicoli, L. Feltri, M. L. Vazquez-Andre, J. A. Morgan-Hughes, L. D'Angelo, F. Y. Liew, L. F. Pascual, J. Patrignani Ochoa, Vittorio Martinelli, J. Cophignon, L. Zhang, S. Martin, J. F. Meder, H. C. Buschmann, L. Bertin, J. van Gijn, A. Barreiro, A. Cools, C. Leon, A. Berod, E. A. Anllo, E. Zanette, L. Petrov, R. Barona, B. Gallicchio, P. J. Cozzone, N. Diederich, G. Cancel, L. Schelosky, P. Orizaola, K. Yulug, S. Ozer, Valeria A. Sansone, B. Guiraud-Chaumeil, K. Voigt, P. Labauge, M. Eoli, J. Zhu, J. Aguirre, M. Ferrarini, B. Zyluk, E. Planas, A. Cadilha, C. Tortorella, H. Bismuth, C. E. Counsell, A. Laun, A. Ferlini, Rio J. Montalban, N. Biary, L. Becker, M. Fardeau, M. Poloni, V. M. S. de Bruin, C. Fornada, J. Barros, E. Ganzmann, E. Touze, D. Wallach, J. Peila, H. Fujimura, M. T. Iba-Zizen, G. Macchi, C. Villoslada, R. Gouider, Ph. Rondepierre, P. Grummich, P. Chiodi, C. Conte, M. Michels, P. Annunziata, G. Semana, C. Sommer, J. Vajsar, D. Zekin, J. Kulisevsky, David G. Munoz, B. Jacotot, M. Magoni, A. Luxen, T. Garcia-Silva, S. Di Cesare, Christophe Tzourio, M. Gomori, I. Picomell, L. Santoro, F. Villa, Giovanni Pennisi, T. Ribalta, J. M. Molto, L. Marzorati, P. Loiseau, F. Gemignani, A. Gironell, J. Wissel, A. Prusinski, F. Cailloux, P. Villanueva-Hemandez, P. Cozzone, T. Del Ser, J. Sans-Sabrafen, M. Zappia, P. W. A. Willems, G. Tchernia, D. Gardeur, R. Bauer, F. Palomo, H. Metz, S. Lamoureux, C. Chastang, I. Reinhard, A. Goldfarb, S. Harder, Jordi Río, C. Ozkara, E. Tekinsoy, P. Vontobell, J. De Recondo, M. Rabasa, L. Lacomblez, F. Boon, Dgt Thomas, V. Palma, Renato Mantegazza, A. Dervis, M. Nueckel, B. YalÇinerner, I. Duran, G. Dalla Volta, A. Zubimendi, J. Pinheiro, A. Marbini, Xavier Montalban, H. Wekerle, X. Pereira Monteino, F. Crespo, F. Koskas, N. Battistini, C. Ruiz, H. Offner, J. de Pommery, P. Kanovsky, J. Y. Barnett, J. Pardo, G. Tomei, R. Rene, H. M. Lokhorst, P. Thajeb, H. Bilgin, D. McGehee, R. Fahsold, L. Morgante, Katie Sidle, C. Delwaide, M. N. Diaye, P. H. Rice, A. Creange, C. Sabev, K. Stephan, K. WeilBenborn, G. Magnani, L. Grymonprez, F. Cardellach, M. Kaps, N. G. Meco, F. Vega, V. Bonifati, A. Desomer, M. Baldy-Moulinier, G. Kvale, F. J. Authier, B. Yegen, T. Ho, J. M. Rozet, E. A. Cabanis, L. Bruce, L. Ambrosoli, M. A. Petrella, M. Hernandez, P. Timmings, H. B. van der Worp, F. Mahieux, A. Urbano-Marquez, D. A. Krendel, A. A. Garcia, R. Divari, R. Michalowicz, M. R. Piedmonte, M. Bondavalli, M. Zanca, P. F. Ippel, Onofre Combarros, B. Tavitian, E. Hirsch, I. Anastasopoulos, A. Roses, A. Köhler, P. Vienna, V. Timmerman, P. Sergi, F. Cornelio, A. Di Pasquale, R. Verleger, S. Castellvirel, J. Proano, B. van Moll, F. Rubio, W. Hacke, I. Lavenu, L. Zetta, M. W. Tas, N. Bittmann, M. Bonamini, O. R. Hommes, V. Dousset, N. Afsar, S. Belal, R. R. Myers, J. Goes, Giuseppe Vita, E. Clementi, V. G. Karepov, M. Jueptner, A Vincent, P. Emmrich, Th. Heb, A. Caballo, J. Gallego, T. Mokrusch, C. Perla, L. Gebuhrer, O. 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Larumbe-Lobalde, G. de la Sierra, J. C. Alvarez-Cermeno, R. J. Seitz, P. L. Oey, L. Ptacek, A. M. J. Paans, A. Wirrwar, A. Schmied, J. Uilchez, H. Tounsi, D. Hipola, V. Avoledo, Y. Hirata, P. Vermersch, T. M. Aisonobe, J. Valls-SoIè, H. Staunton, J. Dichgans, R. Karabudak, I. Dones, G. Porta, E. Janssens, Maria Martinez, J. M. Fernandez-Real, R. Villagra, Y. Yoshino, C. Kabus, K. Schimrigk, I. Girard-Buttaz, F. Piccoli, F. Aichner, P. Zuchegna, S. M. Al Deeb, F. Bono, N. Busquets, A. Jobert, Patrizia Ciscato, M. Martin, L. Polman, S. Darbra, V. Le Cam-Duchez, F. Baldissera, B. Baykan-Kurt, D. Guez, M. Bratoeva, H. Matsui, M. Mila, H. Perron, L. Bjorge, G. Husby, Steven T. DeKosky, D. R. Cornblath, J. M. Gabriel, J. J. Poza, Y. Wu, A. Toscano, R. P. Kleyweg, J. Kuhnen, S. O. Confort-Gouny, A. Barcelo, A. M. Conti, C. Fiol, C. Steichen-Wiehn, J. Rodes, M. Cavenaile, C. Vedeler, M. Drlicek, C. Argentino, M. L. Peris, A. Cervello, A. Z. GinaÏ, S. Yancheva, D. Passingham, S. Aoba, D. L. 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Brasic, W. Heide, I. Santilli, W. M. Korn, D. Selcuki, M. J. Barrett, D. Krieger, T. Leon, T. Houallah, M. Tournilhac, C. Nos, D. Chavot, F. Barbieri, F. J. Jimenez-Jimenez, J. Muruzabal, K. Poeck, A. Sennlaub, L. M. Iriarte, L. G. Lazzarino, C. Sanz, P. A. Fischer, S. D. Shorvon, R. Hoermann, F. Delecluse, M. Krams, O. Corabianu, F. H. Hochberg, Christopher J. Mathias, B. Debachy, C. M. Poser, L. Delodovici, A. Jimenez-Escrig, F. Baruzzi, F. Godenberg, D. Cucinotta, P. J. Garcia Ruiz, K. Maier-Hauff, P. R. Bar, R. Mezt, R. Jochens, S. Karakaneva, C. Roberti, E. Caballero, Joseph E. Parisi, M. Zamboni, T. Lacasa, B. Baklan, J. C. Gautier, J. A. Martinez-Matos, W. Pollmann, G. Thomas, L. Verze, E. Chleide, R. Alvarez Sala, I. Noel, E. Albuisson, O. Kastrup, S. I. Rapoport, H. J. Braune, H. Lörler, M. Le Merrer, A. Biraben, S. Soler, S. J. Taagholt, U. Meyding-Lamadé, K. Bleasdale-Barr, Isabella Moroni, Y. Campos, J. Matias-Guiu, G. Edan, M. G. Bousser, John B. Clark, J. Garcia de Yebenes, N. K. Olsen, P. Hitzenberger, S. Einius, Aj Thompson, Ch. J. Vecht, T. Crepin-Leblond, Klaus L. Leenders, A. Di Muzio, L. Georgieva, René Spiegel, K. Sabey, D. Ménégalli, J. Meulstee, U. Liszka, P. Giral, C. Sunol, J. M. Espadaler, A. D. Crockar, K. Varli, G. Giraud, P. J. Hülser, A. Benazzouz, A. Reggio, M. Salvatore, K. Genc, M. Kushnir, S. Barbieri, J. Ph. Azulay, M. Gianelli, N. Bathien, A. AlMemar, F. Hentati, I. Ragueneau, F. Chiarotti, R. C. F. Smits, A. K. Asbury, F. Lacruz, B. Muller, Alan J. Thompson, Gordon Smith, K. Schmidt, C. Daems Monpeun, Juergen Weber, A. Arboix, G. R. Fink, A. M. Cobo, M. Ait Kaci Ahmed, E. Gencheva, Israel-Biet, G. Schlaug, P. De Jonghe, Philip Scheltens, K. Toyka, P. Gonzalez-Porque, A. Cila, J. M. Fernandez, P. Augustin, J. Siclia, S. Medaglini, D. E. Ziogas, A. Feve, L. Kater, G. J. E. Rinkel, D. Leppert, Rüdiger J. Seitz, S. Ried, C. Turc-Carel, G. Smeyers, F. Godinho, M. Czygan, M. Rijntjes, E. Aversa, M. Frigo, Leif Østergaard, J. L. Munoz Blanco, A. Cruz-Matinez, J. De Reuck, C. Theillet, T. Barroso, V. Oikonen, Florence Lebert, M. Kilinc, C. Cordon-Cardon, G. Stoll, E. Thiery, F. Pulcinelli, J. Solski, M. Schmiegelow, L. J. Polman, P. Fernandez-Calle, C. Wikkelso, M. Ben Hamida, M. Laska, E. Kott, W. Sulkowski, C. Lucas, N. M. Bornstein, D. Schmitz, M. W. Lammers, A. de Louw, R. J. S. Wise, P. A. van Darn, C. Antozzi, P. Villanueva, P. H. E. Hilkens, C. Constantin, W. Ricart, A. Wolf, M. Gamba, P. Maguire, Alessandro Padovani, B. M. Patten, Marie Sarazin, H. Ackermann, L. Durelli, S. Timsit, Sebastian Jander, B. W. Scheithauer, G. Demir, J. P. Neau, P. Barbanti, A. Brand, N. AraÇ, V. Fischer-Gagnepain, R. Marchioli, G. Serratrice, C. Maugard-Louboutin, G. T. Spencer, D. Lücke, G. Mainardi, K. Harmant Van Rijckevorsel, G. B. Creel, R. Manzanares, Francesco Fortunato, A. May, J. Workman, K. Johkura, E. Fernandez, Carlo Colosimo, L. Calliauw, L. Bet, Félix F. Cruz-Sánchez, M. Dhib, H. Meinardi, F. Carrara, J. Kuehnen, C. Peiro, H. Lassmann, K. Skovgaard Olsen, A. McDonald, L. Sciulli, A. Cobo, A. Monticelli, B. Conrad, J. Bagunya, J. Benitez, V. Desnizza, B. Dupont, O. Delrieu, D. Moraes, J. J. Heimans, F. Garcia Rio, M. Matsumto, A. Fernandez, R. Nermni, R. Chalmers, M. J. Marchau, F. Aguado, P. Velupillai, P. J. Martin, P. Tassan, V. Demarin, A. Engelien, T. Gerriets, Comar, J. L. Carrasco, J. P. Pruvo, A. Lopez de Munain, D. Pavitt, J. Alarcon, Chris H. Polman, B. Guldin, N. Yeni, Hartmut Brückmann, N. Wilczak, H. Szwed, R. Causaran, G. Kyriazis, M. E. Westarp, M. Gasparini, N. Pecora, J. M. Roda, E. Lang, V. Scaioli, David R. Fish, D. Caputo, O. Gratzl, R. Mercelis, A. Perretti, G. Steimetz, I. Link, C. Rigoletto, A. Catafau, G. Lucotte, M. Buti, G. Fagiolari, A. Piqueras, C. Godinot, J. C. Meurice, Erodriguez J. Dominigo, F. Lionnet, H. Grzelec, David J. Brooks, P. M. G. Munro, F. X. Weilbach, M. Maiwald, W. Split, B. Widjaja-Cramer, V. Ozturk, J. Colas, E. Brizioli, J. Calleja, L. Publio, M. Desi, R. Soffietti, P. Cortinovis-Tourniaire, E. F. Gonano, G. Cavaletti, S. Uselli, K. Westerlind, H. Betuel, C. O. Dhiver, H. Guggenheim, M. Hamon, R. Fazio, P. Lehikoinen, A. Esser, B. Sadzot, G. Fink, Angelo Antonini, D. Bendahan, V. Di Carlo, G. Galardi, A. F. Boller, M. Aksenova, Del Fiore, V. de la Sayette, H. Chabriat, A. Nicoletti, A. Dilouya, M. L. Harpin, E. Rouillet, J. Stam, A. Wolters, M. R. Delgado, Eduardo Tolosa, G. Said, A. J. Lees, L. Rinaldi, A. Schulze-Bonhage, MA Ron, C. Lefebvre, E. W. Radü, R. Alvarez, M. L. Bots, P. Reganati, S. Palazzi, A. Poggi, N. J. Scolding, V. Sazdovitch, T. Moreau, E. Maes, M. A. Estelies, P. Petkova, Jose-Felix Marti-Masso, G De La Meilleure, N. Mullatti, M. Rodegher, N. C. Notermans, T. A. T. Warner, S. Aktan, J. P. Louboutin, L. Volpe, C. Scheidt, W. Aust, C. M. Wiles, U. Schneider, S. K. Braekken, W. R. Willems, K. Usuku, Peter M. Rothwell, C. Talamon, M. L. Sacchetti, A. Codina, M. H. Marion, A. Santoro, J. Roda, A. Bordoni, D. J. Taylor, S. Ertas, H. H. Emmen, J. Vichez, V. BesanÇon, R. E. Passingham, M. L. Malosio, A. Vérier, M. Bamberg, A. W. Hansen, E. Mostacero, G. Gaudriault, Marie Vidailhet, B. Birebent, K. Strijckmans, F. Giannini, T. Kammer, I. Araujo, J. Nowicki, E. Nikolov, A. Hutzelmann, R. Gherardi, J. Verroust, L. Austoni, A. Scheller, A. Vazquez, S. Matheron, H. Holthausen, J. M. Gerard, M. Bataillard, S. Dethy, V. H. Patterson, V. Ivanez, N. P. Hirsch, F. Ozer, M. Sutter, C. Jacomet, M. Mora, Bruno Colombo, A. Sarropoulos, T. H. Papapetropoulos, M. Schwarz, D. S. Dinner, N. Acarin, B. Iandolo, J. O. Riis, P. R. J. Barnes, F. Taroni, J. Kazenwadel, L. Torre, A. Lugaresi, I. L. Henriques, S. Pauli, S. Alfonso, Pedro Quesada, A. S. T. Planting, J. M. Castilla, Thomas Gasser, M. Van der Linden, A. Alfaro, E. Nobile-Orazio, G. Popova, W. Vaalburg, F. G. A. van der Mech, L. Williams, F. Medina, J. P. Vernant, J. Yaouanq, B. Storch-Hagenlocher, A. Potemkowski, R. Riva, M. H. Mahagne, M. Ozturk, Ve. Drory, N. Konic, C. Jungreis, A. Pou Serradell, J. L. Gauvrit, G. J. Chelune, S. Hermandez, T. Dingus, L. Hewer, Ch. Koch, M. N. Metz-Lutz, G. Parlato, M. Sinaki, Charles Pierrot-Deseilligny, H. C. Diener, J. Broeckx, J. Weill-Fulazza, M. L. Villar, M. Rizzo, O. Ganslandt, C. Duran, N. A. Fletcher, G. Di Giovacchino, Susan T. Iannaccone, C. Kolig, N. Fabre, H. A. Crockard, Rita Bella, M. Tazir, E. Papagiannuli, K. Overgaard, Emma Ciafaloni, I. Lorenzetti, F. Viader, P. A. H. Millac, I. Montiel, L. H. Visser, M. Palomar, P. L. Murgia, H. Pedersen, Rafael Blesa, S. Seddigh, W. O. Renier, I. Lemahieu, H. M. L. Jansen, L. Rosin, J. Galofre, K. Mattos, M. Pondal, G. M. Hadjigeorgiou, D. Francis, L. Cantin, D. Stegeman, M. Rango, A. B. M. F. Karim, S. Schraff, B. Castellotti, I. Iriarte, E. Laborde, T. J. Tjan, R. Mutani, D. Toni, B. Bergaasco, J. G. Young, C. Klotzsch, A. Zincone, X. Ducrocq, M. Uchuya, O. J. Kolar, A. Quattrone, T. Bauermann, Nereo Bresolin, J. Vallée, B. C. Jacobs, A. Campos, Werner Poewe, J. A. Villanueva, A. W. Kornhuber, A. Malafosse, E. Diez-Tejedor, G. Jungreia, M. J. A. Puchner, A. Komiyama, O. Saribas, V. Volpini, L. Geremia, S. Bressi, A. Nibbio, Timothy E. Bates, T. z. Tzonev, E. Ideman, G. A. Damlacik, G. Martino, G. Crepaldi, T. Martino, Kjell Någren, E. Idiman, D. Samuel, J. M. Perez Trullen, Y. van der Graaf, J. O. Thorell, M. J. M. Dupuis, E. Sieber, R. D'Alessandro, C. Cazzaniga, J. Faiss, A. Tanguy, A. Schick, I. Hoksergen, A. Cardozo, R. Shakarishvili, G. K. Wennlng, J. L. Marti-Vilalta, J. Weissenbach, I. L. Simone, Amalia C. Bruni, Darius J. Adams, C. Weiller, A. Pietrangeli, F. Croria, C. Vigo-Pelfrey, Patricia Limousin, A. Ducros, G. Conti, O. Lindvall, E. Richter, M. Zuffi, A. Nappo, T. Riise, J. Wijdenes, M. J. Fernandez, J. Rosell, P. Vermersh, S. Servidei, M. S. C. Verdugo, F. Gouttiere, W. Solbach, M. Malbezin, I. S. Watanabe, A. Tumac, W. I. McDonald, D. A. Butterfield, P. P. Costa, F. deRino, F. Bamonti, J. M. Cesar, C. H. Lahoz, I. Mosely, M. Starck, M. H. Lemaitre, K. M. Stephan, S. Tex, R. Bokonjic, I. Mollee, L. Pastena, M. Gutierrez, F. Boiler, M. C. Martinez-Para, M. Velicogna, O. Obuz, A. Grinspan, M. Guarino, L. M. Cartier, E. Ruiz, D. Gambi, S. Messina, M. Villa, Michael G. Hanna, J. Valk, Leone Pascual, M. Clanet, Z. Argov, B. Ryniewicz, E. Magni, B. Berlanga, K. S. Wong, C. Gellera, C. Prevost, F. Gonzalez-Huix, R. Petraroli, J. E. G. Benedikz, I. Kojder, C. Bommelaer, L. Perusse, M. R. Bangioanni, Guy M. McKhann, A. Molina, C. Fresquet, E. Sindern, Florence Pasquier, M. J. Rosas, M. Altieri, O. Simoncini, M. Koutroumanidis, C. A. F. Tulleken, M. Dary-Auriol, S. Oueslati, H. Kruyer, I. Nishisho, C. R. Horning, A. Vital, G. V. Czettritz, J. Ph. Neau, B. Mihout, A. Ameri, M. Francis, S. Quasthoff, D. Taussig, S. Blunt, P. Valentin, C. Y. Gao, O. Heinzlef, H. d'Allens, C. Coudero, M. Erfas, G. Borghero, P. J. Modrego Pardo, M. C. Patrosso, N. L. Gershfeld, P. A. J. M. Boon, O. Sabouraud, M. Lara, J. Svennevig, G. L. Lenzi, A. Barrio, H. Villaroya, JosÇ M. Manubens, O. Boespflug-Tanguy, M. Carreras, D. A. Costiga, J. P. Breux, S. Lynn, C. Oliveras Ley, A. G. Herbaut, J. Nos, C. Tornali, Y. A. Hekster, J. L. Chopard, J. M. Manubens, P. Chemouilli, A. Jovicic, F. Dworzak, S. Smirne, S. E. Soudain, B. Gallano, D. Lubach, G. Masullo, G. Izquierdo, A. Pascual Leone Pascual, A. Sessa, V. Freitas, O. Crambes, L. Ouss, G. W. Van Dijk, P. Marchettini, P. Confalonieri, M. Donaghy, A. Munnich, M. Corbo, and M. E. L. van der Burg
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Neurology ,business.industry ,Media studies ,Library science ,Medicine ,Neurology (clinical) ,business - Published
- 1994
- Full Text
- View/download PDF
28. Apparently sporadic motor neuron disease in a family with a novel G61R gene mutation: uncompleted penetrance or a chance association?
- Author
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FL Conforti, R Barone, S Lo Fermo, C Giliberto, F Patti, W Sproviero, R Mazzei, C Ungaro, A Gambardella, A Quattrone, and M Zappia
- Published
- 2010
29. [Reconsiderations in the treatment of Parkinson's disease with levodopa: some pharmacodynamic evidence]
- Author
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M, Zappia, A, Nicoletti, D, Muñoz-S, and J, Tapia-Núñez
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Levodopa ,Dyskinesia, Drug-Induced ,Dyskinesias ,Treatment Outcome ,Dose-Response Relationship, Drug ,Dopamine ,Humans ,Parkinson Disease ,Drug Administration Schedule - Abstract
To review the current literature on the use of levodopa in the treatment of Parkinson's disease (PD), with an emphasis on pharmacodynamical aspects.Levodopa has been used successfully for treatment of PD since its discovery, being still the drug of choice. It has shown decreasing motor disability and reduce mortality in PD patients, however, still maintains long-term problems, particularly in relation to the motor response, the onset of dyskinesias and apparent neurotoxicity. The pharmacodynamical evidence indicates that pharmacological effects such as short-term response (SDR) and the long-term response (LDR) are an integral part of the therapeutic response to levodopa. Both responses have pharmacodynamical changes in time and its effects are expressed in terms of amplitude, duration and onset latency of pharmacological action. Investigations in this area, show that LDR would the expression of the physiological release of dopamine, and the treatment of PD should be based on LDR and its pharmacological characteristics.The pharmacodynamics of levodopa is complex. However, the available evidence suggests that a therapeutic strategy based on the use of the LDR is better than those based on the control of the SDR. The knowledge of the pharmacological characteristics of levodopa is central to the therapeutic decision, which should be effective in reducing symptoms and have minimal side effects.
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- 2009
30. Autosomal dominant distal motor neuropathy: an Italian family not linked to known loci
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L Citrigno, R Pennisi, A Patitucci, R Barone, A Magariello, AL Gabriele, M Pennisi, R Mazzei, FL Conforti, C Ungaro, M Zappia, and M Muglia
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- 2009
31. Notch receptors expression in glioma cell lines under different culture conditions
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P. DellAlbani, E. Tricarichi, P. LaCava, S. DAntoni, A. Berretta, R. Pellitteri, M. Zappia, V. Albanese, Giuffrida Stella A.M., and Catania M.V.
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gliomas ,growth factors ,notch ,neural stem cells - Published
- 2009
32. Autosomal dominant distal motor neuropathy: an italian family not linked to known loci
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M Muglia, L Citrigno, M Pennisi, A Patitucci, R Barone, A Magariello, AL Gabriele, G Pennisi, R Mazzei, FL Conforti, C Ungaro, A Gambardella, A Quattrone, and M Zappia
- Published
- 2009
33. Residual strength of R.C. buildings after a fire: A case study
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A.L. Materazzi M. Zappia and I. Venanzi
- Subjects
Residual strength ,business.industry ,Environmental science ,Structural engineering ,business - Published
- 2008
- Full Text
- View/download PDF
34. Presenilin-2 gene mutation presenting as Lewy Body dementia
- Author
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L. Raciti, A. Nicoletti, S. Lanzafame, F. Le Pira, T. Maci, V. Andreoli, A. Quattrone, and M. Zappia.
- Published
- 2008
35. SPASTIN GENE MUTATIONS IN ITALIAN PATIENTS WITH A PURE AND COMPLICATED FORMS OF SPASTIC PARAPLEGIA
- Author
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A. Magariello, M. Muglia, A. Patitucci, R. Mazzei, FL. Conforti, AL Gabriele, T. Sprovieri, C. Ungaro, L. Citrigno, A. Gambardella, F. Bono, T. Piccoli, F. Patti, M. Zappia, and A. Quattrone
- Published
- 2007
36. Spastin gene mutations in Italian patients with pure and complicated forms of spastic paraplegia
- Author
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A Magariello, M Muglia, A Patitucci, R Mazzei, FL Conforti, AL Gabriele, T Sprovieri, C Ungaro, L Citrigno, A Gambardella, F Bono, T Piccoli, F Patti, M Zappia, and A Quattrone
- Published
- 2007
37. Differences in disease severity reflect diversity of glycoproteome in two sibs with CDG-Ia
- Author
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R. Barone, L. Sturiale, V. Sofia, A. Ignoto, A. Fiumara, D. Garozzo, and M. Zappia
- Published
- 2007
38. Alpha-synuclein promoter haplotypes and dementia in Parkinsons disease
- Author
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E.V. De Marco, G. Annesi, F. Annesi, G. Provenzano, P. Tarantino, D. Civitelli, F.E. Rocca, I.C. Cirò Candiano, N. Romeo, S. Carrideo, V. de Luca, F. Condino, G. Nicoletti, R. Marconi, M. Zappia, and A. Quattrone.
- Published
- 2006
39. Differences in severity of clinical phenotype reflect diversity of glycosylation status in two sibs with phosphomannomutase deficiency (CDG-Ia) due to V129M/R141H mutations
- Author
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R. Barone, L. Sturiale, V. Sofia, L. Pavone, D. Garozzo, and M. Zappia
- Published
- 2006
40. Nuove mutazioni identificate nel gene della spastina in soggetti affetti da Paraplegia Spastica Ereditaria
- Author
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A. Magariello, A. Patitucci, R. Mazzei, F.L. Conforti, A.L. Gabriele, T. Sprovieri, C. Ungaro, L. Citrigno, M. Zappia, F. Patti, F. Bono, and M. Muglia
- Published
- 2006
41. Apparent diffusion coefficient measurements of the Middle Cerebellar Peduncle differentiates MSA from PD and PSP
- Author
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Giuseppe Nicoletti, Caterina Tonon, Raffaele Lodi, F Fera, Emil Maluccelli, F Condino, M Zappia, Bruno Barbiroli, and A Quattrone
- Subjects
adc ,middle cerebellar peduncle ,msa ,pd - Published
- 2005
42. Identificazione di una nuova mutazione nel gene SOD1 in un paziente affetto da Diplegia Brachiale Amiotrofica
- Author
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F.L. Conforti, P. Valentino, T. Sprovieri, R. Mazzei, A. Patitucci, A. Magariello, R. Nisticò, D. Pirritano, A.L. Gabriele, C. Ungaro, A. Clodomiro, G. Peluso, M. Zappia, and M. Muglia
- Published
- 2004
43. A novel SOD1 mutation in a patient with Brachial Amyotrophic Diplegia
- Author
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F.L. Conforti, P. Valentino, T. Sprovieri, R. Mazzei, A. Patitucci, A. Magariello, R. Nisticò, D. Pirritano, A. L. Gabriele, C. Ungaro, A. Clodomiro, G. Peluso, M. Zappia, and M. Muglia
- Subjects
Brachial Amyotrophic Diplegia ,SOD1 GENE - Published
- 2004
44. Parkin gene analysis in late onset Parkinsons disease families
- Author
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F. Annesi, M. Zappia, G. Annesi, D. Civitelli, E.V. De Marco, P. Spadafora, S. Carrideo, P. Tarantino, G. Logroscino, G. Manobianca, A. Epifanio, L. Morgante, G. Savettieri, G. Nicoletti, F. E. Rocca, G. De Cicco, and A. Quattrone.
- Published
- 2004
45. [Deep brain stimulation in the treatment of Parkinson's disease. Our experience]
- Author
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C D, Signorelli, A, Lavano, G, Volpentesta, D, Chirchiglia, F, Signorelli, M, Sibille, G, Ferraro, C, Veltri, M, Aloisi, G, Piragine, M, Zappia, G, Arabia, S, Pardatcher, K, Pardatcher, and E, Santangelo
- Subjects
Male ,Humans ,Electric Stimulation Therapy ,Female ,Parkinson Disease ,Middle Aged ,Aged ,Follow-Up Studies - Published
- 2003
46. Association study of NACP-REP1 polymorphism and Parkinson's disease
- Author
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P Spadafora, G Annesi, P Tarantino, EV De Marco, D Civitelli, S Carrideo, IC Cirò Candiano, PASQUA A, N Romeo, M Caracciolo, G Arabia, P Pugliese, M Zappia, F Annesi, and A Quattrone
- Abstract
We investigated the segregation of the dinucleotide GT repeat polymorphism in the intron between exons 9 and 10 of the tau gene in 300 patients with Parkinson's disease (PD) and in 197 normal controls. The A3allele was more frequent in cases than in controls (30% versus 16%, p
- Published
- 2003
47. Screening delle mutazioni del gene NOTCH3 in famiglie CADASIL provenienti dal sud Italia
- Author
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R. Mazzei, F.L. Conforti, T. Sprovieri, M. Zappia, A. Magariello, A. Toscano, A. Patitucci, M.G. Arena, A.L. Gabriele, P. Lanza, and M.Muglia
- Published
- 2003
48. Farmacogenetica della risposta motoria alla levodopa in pazienti con malattia di Parkinson
- Author
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P. Pugliese, G. Arabia, G. Annesi, G. Nicoletti, L. Crescibene, G. Torchia, D. Civitelli, E.V. De Marco, L. Bastone, D. Messina, A. Quattrone, and M. Zappia
- Published
- 2003
49. Effetto del sesso su fattori di rischio clinico-genetici associati allo sviluppo delle discinesie di picco indotte dalla levodopa nella malattia di Parkinson
- Author
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G. Arabia, G. Annesi, G. Nicoletti, P. Pugliese, P. Serra, P. Spadafora, F. Annesi, N. Romeo, A. Quattrone, and M. Zappia
- Published
- 2003
50. S.7.1 Ultrasonographic hand features in systemic sclerosis and correlates with clinical, biological and radiographic findings
- Author
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M. Elhai, H. Guerini, R. Bazeli, J. Avouac, V. Freire, J.- L. Drape, A. Kahan, Y. Allanore, G. Abignano, G. Cuomo, M. Buch, W. M. Rosenberg, G. Valentini, P. Emery, F. Del Galdo, P. Martin, W. R. Teodoro, A. P. Velosa, S. Carrasco, J. de Morais, R. B. Christmann, E. R. Parras, V. L. Capelozzi, N. H. Yoshinari, M. Zappia, M. Iudici, and G. Abignao
- Subjects
Kinase ,business.industry ,Systemic scleroderma ,medicine.disease ,Extracellular matrix ,Focal adhesion ,Idiopathic pulmonary fibrosis ,Rheumatology ,Extracellular ,medicine ,Cancer research ,Immunohistochemistry ,Pharmacology (medical) ,business ,Myofibroblast - Abstract
increased synthesis of extracellular matrix components is a major hallmark of SSc. Focal adhesion kinase (FAK), an essential component in the extracellular matrix-mediated adhesive signalling, was found to be hyperactivated in lesional scleroderma fibroblasts, and therefore this kinase has been hypothesized to be a key mediator of this disease. The present study was undertaken to investigate the role of FAK signalling in SSc and to evaluate the therapeutic potential of FAK inhibition for the treatment of lung fibrosis. FAK activity and expression is up-regulated in lungs of mice subjected to non-infectious injury and in human idiopathic pulmonary fibrosis (IPF) or scleroderma (SSc) patients as investigated by immunohistochemistry (IHC). Genetic or pharmacological targeting of FAK abrogates fibrogenesis in the bleomycin-induced lung fibrosis model as quantitated by IHC and collagen content. In vitro, FAK activation is required for endothelin-1induced myofibroblast differentiation, extracellular matrix (ECM) production and contractility as tested by western blot, real-time PCR and gel contraction assay. These results implicate FAK as a central mediator of fibrogenesis, and highlight this kinase as a potential therapeutic target in fibrotic diseases. These findings might have direct translational implications because different inhibitors of FAK are available and have yielded promising results in cancer trials.
- Published
- 2012
- Full Text
- View/download PDF
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