IAS-LAB PUBLICATIONS
Background: Pompe’s disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family.Methods. For a large series of GSDII patients we collected some clinical data as age of onset of the disease, presence or absence of muscular pain, Walton score, 6-Minute Walking Test, Vital Capacity, and Creatine Kinase. DNA was extracted and tested for GAA mutations and some genetic polymorphisms able to influence muscle properties (ACE, ACTN3, AGT and PPAR genes). We compared the polymorphisms analyzed in groups of patients with Pompe disease clustered for their homogeneous genotype.Results: We have been able to identify four subgroups of patients completely homogeneous for their genotype, and two groups homogeneous as far as the second mutation is defined “very severe” or “potentially less severe”. When disease free life was studied we observed a high significant difference between groups. The DD genotype in the ACE gene and the XX genotype in the ACTN3 gene were significantly associated to an earlier age of onset of the disease. The ACE DD genotype was also associated to the presence of muscle pain.Conclusions: We demonstrate that ACE and ACTN3 polymorphisms are genetic factors able to modulate the clinical phenotype of patients affected with Pompe disease.
Authors: publisher Genotype-phenotype correlation in Pompe disease, a step forward; 2014 Dept Mol Med; Dept Mol Med; Reg Ctr Rare Dis; Dept Neurosci; Immunol & Muscular Pathol Unit; Dept Neurol; CeSI; Sect Neuromuscular Dis & Neuropathies; Dept Med Surg & Neurol Sci; Dept Cardiovasc Sci & Neurol; Rare Metab Dis Unit; Neurol Sect; Neurol Inst; Dept Pulm Rehabil; Dept Brain & Behav Sci; Dept Neurosci Psychiat & Anaesthesiol
Journal: cc-by
Published: De Filippi, P; Saeidi, K; Ravaglia, S; Dardis, A; Angelini, C; Mongini, T; Morandi, L; Moggio, M; Di Muzio, A; Filosto, M; Bembi, B; Giannini, F; Marrosu, G; Rigoldi, M; Tonin, P; Servidei, S; Siciliano, G; Carlucci, A; Scotti, C; Comelli, M; Toscano, A; Danesino, C;
DOI: true
WOS.SCI
Volume: https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-014-0102-z Pages: 113855795||113855795||106171087||113699239||103893887||113267986||103274444||113699233||106171087||113511455||104639508||106402087||104638537||104623433||124800924||113855795||113396365||103618674||113855795-gold
Keywords: 2014
Action observation activates the same motor areas as those involved in the performance of the observed actions and promotes functional recovery following stroke. Movement observation is now considered a promising tool for motor rehabilitation, by allowing patients to train their motor functions when voluntary movement is partially impaired. We asked chronic-stroke patients, affected by either left (LHD) or right hemisphere (RHD) lesions, to observe either a left or right hand, while grasping a small target (eliciting a precision grip) or a large target (eliciting a whole hand grasp directed towards a target object). To better understand the effects of action observation on damaged motor circuits, we used transcranial magnetic stimulation (TMS) to induce motor evoked potentials (MEP) from two muscles of the unaffected hand in 10 completely hemiplegic participants. Results revealed that LHD patients showed MEP facilitation on the right (contralesional) M1 during action observation of hand-object interactions. In contrast, results showed no facilitation of the left (contralesional) M1 in RHD patients. Our results confirm that action observation might have a positive influence on the recovery of motor functions after stroke. Activating the motor system by means of action observation might provide a mechanism for improving function, at least in LHD patients. © 2014 Mattia Marangon et al.
Authors: publisher Lateralization of motor cortex excitability in stroke patients during action observation: A TMS study; 2014 Dept Gen Psychol; Dept Gen Psychol; Fdn Osped San Camillo; Dept Rehabil Med
Journal: cc-by
Published: Marangon, M; Priftis, K; Fedeli, M; Masiero, S; Tonin, P; Piccione, F;
DOI: false
WOS.SCI
Volume: https://downloads.hindawi.com/journals/bmri/2014/251041.pdf Pages: 103061402||109032687-hybrid
Keywords: 2014
The m.3243A>G “MELAS” (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) mutation is one of the most common point mutations of the mitochondrial DNA, but its phenotypic variability is incompletely understood. The aim of this study was to revise the phenotypic spectrum associated with the mitochondrial m.3243A>G mutation in 126 Italian carriers of the mutation, by a retrospective, database-based study (“Nation-wide Italian Collaborative Network of Mitochondrial Diseases”). Our results confirmed the high clinical heterogeneity of the m.3243A>G mutation. Hearing loss and diabetes were the most frequent clinical features, followed by stroke-like episodes. “MIDD” (maternally-inherited diabetes and deafness) and “PEO” (progressive external ophthalmoplegia) are nosographic terms without any real prognostic value, because these patients may be even more prone to the development of multisystem complications such as stroke-like episodes and heart involvement. The “MELAS” acronym is convincing and useful to denote patients with histological, biochemical and/or molecular evidence of mitochondrial disease who experience stroke-like episodes. Of note, we observed for the first time that male gender could represent a risk factor for the development of stroke-like episodes in Italian m.3243A>G carriers. Gender effect is not a new concept in mitochondrial medicine, but it has never been observed in MELAS. A better elucidation of the complex network linking mitochondrial dysfunction, apoptosis, estrogen effects and stroke-like episodes may hold therapeutic promises. © 2013 Springer-Verlag Berlin Heidelberg.
Authors: The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?; 2014 Neurol Clin; Neurol Clin; Mol Med Lab; IRCCS Fdn Ca Granda Osped Maggiore Policlin; A Meyer Childrens Hosp; G Gaslini Inst; Fdn IRCCS Ca Granda Osped Maggiore Policlin; Dept Neurosci; Inst Neurol; Fdn Carlo Besta Inst Neurol; Unit Mol Neurogenet
Journal: The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
Published: Mancuso, M; Orsucci, D; Angelini, C; Bertini, E; Carelli, V; Comi, GP; Donati, A; Minetti, C; Moggio, M; Mongini, T; Servidei, S; Tonin, P; Toscano, A; Uziel, G; Bruno, C; Ienco, EC; Filosto, M; Lamperti, C; Catteruccia, M; Moroni, I; Musumeci, O; Pegoraro, E; Ronchi, D; Santorelli, FM; Sauchelli, D; Scarpelli, M; Sciacco, M; Valentino, ML; Vercelli, L; Zeviani, M; Siciliano, G;
DOI: false
WOS.SCI
Volume: Mancuso||Orsucci||Angelini||Bertini||Carelli||Comi||Donati||Minetti||Moggio||Mongini||Servidei||Tonin||Toscano||Uziel||Bruno||Ienco||Filosto||Lamperti||Catteruccia||Moroni||Musumeci||Pegoraro||Ronchi||Santorelli||Sauchelli||Scarpelli||Sciacco||Valentino||Vercelli||Zeviani||Siciliano Pages: 104458839||104458839||110935153||104534016||113263551||113240986||113699239||110185689||104638385||113142508||106952425||113263551||104458839||113699233||103894101||110935153||106952425||113142508||104534016||110185689||104638385||113240986||113699239||103894101||104458839-closed
Keywords: 2014
A major clinical goal of brain-computer interfaces (BCIs) is to allow severely paralyzed patients to communicate their needs and thoughts during their everyday lives. Among others, P300-based BCIs, which resort to EEG measurements, have been successfully operated by people with severe neuromuscular disabilities. Besides reducing the number of stimuli repetitions needed to detect the P300, a current challenge in P300-based BCI research is the simplification of system’s setup and maintenance by lowering the number N of recording channels. By using offline data collected in 30 subjects (21 amyotrophic lateral sclerosis patients and 9 controls) through a clinical BCI with N=5 channels, in the present paper we show that a preprocessing approach based on a Bayesian single-trial ERP estimation technique allows reducing N to 1 without affecting the system’s accuracy. The potentially great benefit for the practical usability of BCI devices (including patient acceptance) that would be given by the reduction of the number N of channels encourages further development of the present study, for example, in an online setting. © 2014 Anahita Goljahani et al.
Authors: publisher Preprocessing by a Bayesian single-trial event-related potential estimation technique allows feasibility of an assistive single-channel P300-based brain-computer interface; 2014 Dept Informat Engn; Dept Informat Engn
Journal: cc-by
Published: Goljahani, A; D'Avanzo, C; Silvoni, S; Tonin, P; Piccione, F; Sparacino, G;
DOI: false
WOS.SCI
Volume: https://downloads.hindawi.com/journals/cmmm/2014/731046.pdf Pages: 112347030||112347030||112347030-hybrid
Keywords: 2014
08/03/2026 05:58:54
Authors: AREA MIN. 06 - Scienze mediche; AREA MIN. 09 - Ingegneria industriale e dell'informazione; ITA; ERROR; 1
Published: 8th World Congress for NeuroRehabilitation - Book of abstracts
Pages: ERROR_NO_MATCH
5
Authors: publisher The host galaxies of X-ray selected active galactic nuclei to z = 2.5: Structure, star formation, and their relationships from CANDELS and Herschel/PACS; 2015
Journal: The host galaxies of X- ray selected active galactic nuclei to z=2.5: Structure, star formation, and their relationships from CANDELS and Herschel/PACS
Published: Rosario, DJ; McIntosh, DH; van der Wel, A; Kartaltepe, J; Lang, P; Santini, P; Wuyts, S; Lutz, D; Rafelski, M; Villforth, C; Alexander, DM; Bauer, FE; Bell, EF; Berta, S; Brandt, WN; Conselice, CJ; Dekel, A; Faber, SM; Ferguson, HC; Genzel, R; Grogin, NA; Kocevski, DD; Koekemoer, AM; Koo, DC; Lotz, JM; Magnelli, B; Maiolino, R; Mozena, M; Mullaney, JR; Papovich, CJ; Popesso, P; Tacconi, LJ; Trump, JR; Avadhuta, S; Bassett, R; Bell, A; Bernyk, M; Bournaud, F; Cassata, P; Cheung, E; Croton, D; Donley, J; DeGroot, L; Guedes, J; Hathi, N; Herrington, J; Hilton, M; Lai, K; Lani, C; Martig, M; McGrath, E; Mutch, S; Mortlock, A; McPartland, C; O'Leary, E; Peth, M; Pillepich, A; Poole, G; Snyder, D; Straughn, A; Telford, O; Tonini, C; Wandro, P;
DOI: true
WOS.SCI
Volume: https://www.aanda.org/articles/aa/pdf/2015/01/aa23782-14.pdf
Keywords: 2015
This paper presents an important step forward towards increasing the independence of people with severe motor disabilities, by using brain-computer interfaces to harness the power of the Internet of Things. We analyze the stability of brain signals as end-users with motor disabilities progress from performing simple standard on-screen training tasks to interacting with real devices in the real world. Furthermore, we demonstrate how the concept of shared control – which interprets the user’s commands in context – empowers users to perform rather complex tasks without a high workload. We present the results of nine end-users with motor disabilities who were able to complete navigation tasks with a telepresence robot successfully in a remote environment (in some cases in a different country) that they had never previously visited. Moreover, these end-users achieved similar levels of performance to a control group of 10 healthy users who were already familiar with the environment.
Authors: repository Towards independence: A BCI telepresence robot for people with severe motor disabilities; 2015 Ctr Neuroprosthet; Dept Informat Engn; Aspire Ctr Rehabil Engn & Assist Technol; Ctr Neuroprosthet
Journal: Towards Independence: A BCI Telepresence Robot for People With SevereMotor Disabilities
Published: Leeb, R; Tonin, L; Rohm, M; Desideri, L; Carlson, T; Millan, JD;
DOI: false
WOS.SCI
Volume: Leeb||Tonin||Rohm||Desideri||Carlson||Millán Pages: 107144069||112347030||113876419-green
Keywords: 2015
Innovative chips based on palladium thin films deposited on plastic substrates have been tested in the Kretschmann surface plasmon resonance (SPR) configuration. The new chips combine the advantages of a plastic support that is interesting and commercially appealing and the physical properties of palladium, showing inverted surface plasmon resonance (ISPR). The detection of DNA chains has been selected as the target of the experiment, since it can be applied to several medical early diagnostic tools, such as different biomarkers of cancers or cystic fibrosis. The results are encouraging for the use of palladium in SPR-based sensors of interest for both the advancement of biodevices and the development of hydrogen sensors.
Authors: publisher Palladium on plastic substrates for plasmonic devices; 2015 Dept Biomed Sci; Dept Informat Engn
Journal: cc-by
Published: Zuppella, P; Pasqualotto, E; Zuccon, S; Gerlin, F; Corso, AJ; Scaramuzza, M; De Toni, A; Paccagnella, A; Pelizzo, MG;
DOI: true
WOS.SCI
Volume: https://www.mdpi.com/1424-8220/15/1/1138/pdf?version=1421074314
Keywords: 2015
Mancuso M.; Orsucci D.; Angelini C.; Bertini E.; Carelli V.; Comi G.P.; Donati M.A.; Federico A.; Minetti C.; Moggio M.; Mongini T.; Santorelli F.M.; Servidei S.; Tonin P.; Toscano A.; Bruno C.; Bello L.; Ienco E.C.; Cardaioli E.; Catteruccia M.; Da Pozzo P.; Filosto M.; Lamperti C.; Moroni I.; Musumeci O.; Pegoraro E.; Ronchi D.; Sauchelli D.; Scarpelli M.; Sciacco M.; Valentino M.L.; Vercelli L.; Zeviani M.; Siciliano G.
Authors: publisher Erratum: Redefining phenotypes associated with mitochondrial DNA single deletion (J Neurol, (2015) 262, (1301-1309), DOI 10.1007/s00415-015-7710-y); 2015 Neurol Clin; Neurol Clin; Bambino Gesu Childrens Hosp; Dept Biomed & Neuromotor Sci; IRCCS Fdn Ca Granda; Meyer Childrens Hosp; Dept Med Surg & Neurosci; Neuropediat; Fdn IRCCS Ca Granda; Dept Neurosci; Inst Neurol
Journal: Redefining phenotypes associated with mitochondrial DNA single deletion (vol 262, pg 1301, 2015)
Published: Mancuso, M; Orsucci, D; Angelini, C; Bertini, E; Carelli, V; Comi, GP; Donati, MA; Federico, A; Minetti, C; Moggio, M; Mongini, T; Santorelli, FM; Servidei, S; Tonin, P; Toscano, A; Bruno, C; Bello, L; Ienco, EC; Cardaioli, E; Catteruccia, M; Da Pozzo, P; Filosto, M; Lamperti, C; Moroni, I; Musumeci, O; Pegoraro, E; Ronchi, D; Sauchelli, D; Scarpelli, M; Sciacco, M; Valentino, ML; Vercelli, L; Zeviani, M; Siciliano, G;
DOI: false
WOS.SCI
Volume: https://link.springer.com/content/pdf/10.1007/s00415-015-7943-9.pdf Pages: 104458839||104458839||112781907||103921813||114670223||104534016||113319418||115102061||113240986||113699239||110185689||104638385||113142508||115102061||112781907||104458839||113319418||103921813||113319418||113699233||103893881||106952425||113142508||112781907||104534016||110185689||104638385||113240986||114670223||113699239||103893881||104458839-bronze
Keywords: 2015
08/03/2026 05:58:51
Authors: publisher; 2015
Journal: 33rd Vicenza Course on Critical Care Nephrology, Vicenza, Italy, June 9-12, 2015 Abstracts
Published: publishedVersion
DOI: false
WOS.SCI
Volume: https://www.karger.com/Article/Pdf/431262