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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

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

Progressive external ophthalmoplegia (PEO), Kearns–Sayre syndrome (KSS) and Pearson syndrome are the three sporadic clinical syndromes classically associated with single large-scale deletions of mitochondrial DNA (mtDNA). PEO plus is a term frequently utilized in the clinical setting to identify patients with PEO and some degree of multisystem involvement, but a precise definition is not available. The purpose of the present study is to better define the clinical phenotypes associated with a single mtDNA deletion, by a retrospective study on a large cohort of 228 patients from the database of the “Nation-wide Italian Collaborative Network of Mitochondrial Diseases”. In our database, single deletions account for about a third of all patients with mtDNA-related disease, more than previously recognized. We elaborated new criteria for the definition of PEO and “KSS spectrum” (a category of which classic KSS represents the most severe extreme). The criteria for “KSS spectrum” include the resulting multisystem clinical features associated with the KSS features, and which therefore can predict their presence or subsequent development. With the new criteria, we were able to classify nearly all our single-deletion patients: 64.5 % PEO, 31.6 % KSS spectrum (including classic KSS 6.6 %) and 2.6 % Pearson syndrome. The deletion length was greater in KSS spectrum than in PEO, whereas heteroplasmy was inversely related with age at onset. We believe that the new phenotype definitions implemented here may contribute to a more homogeneous patient categorization, which will be useful in future cohort studies of natural history and clinical trials.

Authors: Redefining phenotypes associated with mitochondrial DNA single deletion; 2015 Neurol Clin; Neurol Clin; IRCCS; IRCCS Ist Sci Neurol Bologna; IRCCS Fdn Ca Granda Osped Maggiore Policlin; Meyer Childrens Hosp; Dept Med Surg & Neurosci; Neuropediat; Fdn IRCCS Ca Granda Osped Maggiore Policlin; Dept Neurosci; Inst Neurol; Unit Mol Neurogenet; Child Neurol Unit

Journal: Redefining phenotypes associated with mitochondrial DNA single deletion

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: Mancuso||Orsucci||Angelini||Bertini||Carelli||Comi||Donati||Federico||Minetti||Moggio||Mongini||Santorelli||Servidei||Tonin||Toscano||Bruno||Bello||Caldarazzo Ienco||Cardaioli||Catteruccia||Da Pozzo||Filosto||Lamperti||Moroni||Musumeci||Pegoraro||Ronchi||Sauchelli||Scarpelli||Sciacco||Valentino||Vercelli||Zeviani||Siciliano Pages: 104458839||104458839||112781907||103921813||104534016||103195563||115102061||113240986||113699239||104638385||113142508||115102061||112781907||104458839||103195563||103921813||103195563||113699233||103893881||106952425||113142508||112781907||104534016||104638385||113240986||113699239||103893881||104458839-closed

Keywords: 2015

AREA MIN. 09 – Ingegneria industriale e dell’informazione||AREA MIN. 09 – Ingegneria industriale e dell’informazione||AREA MIN. 09 – Ingegneria industriale e dell’informazione – ITA||CHE

Authors: AREA MIN. 09 - Ingegneria industriale e dell'informazione; ITA; CHE; title_year; MATCH; 1

Published: Proceedings of 37TH ANNUAL INTERNATIONAL CONFERENCE OF THE IEEE Engineering in Medicine and Biology Society, EMBC 2015

Morquio A syndrome (MPS IVA) is a systemic lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), encoded by the GALNS gene. We studied 37 MPS IV A patients and defined genotype-phenotype correlations based on clinical data, biochemical assays, molecular analyses, and in silico structural analyses of associated mutations. We found that standard sequencing procedures, albeit identifying 14 novel small GALNS genetic lesions, failed to characterize the second disease-causing mutation in the 16% of the patients’ cohort. To address this drawback and uncover potential gross GALNS rearrangements, we developed molecular procedures (CNV [copy-number variation] assays, QF-PCRs [quantitative fluorescent-PCRs]), endorsed by CGH-arrays. Using this approach, we characterized two new large deletions and their corresponding breakpoints. Both deletions were heterozygous and included the first exon of the PIEZO1 gene, which is associated with dehydrated hereditary stomatocitosis, an autosomal-dominant syndrome. In addition, we characterized the new GALNS intronic lesion c.245-11C>G causing m-RNA defects, although identified outside the GT/AG splice pair. We estimated the occurrence of the disease in the Italian population to be approximately 1:300,000 live births and defined a molecular testing algorithm designed to help diagnosing MPS IVA and foreseeing disease progression.

Authors: Optimizing the molecular diagnosis of GALNS: Novel methods to define and characterize morquio-A syndrome-associated mutations; 2015 Neurosci Dept; Neurosci Dept; Dept Pediat; Clin Genet Unit; UO Pediat 2; Lab Diag Prepostnatale Malattie Metab Genoa; Dept Pediat Sci; Bioinformat; Sch Med; Genet Ctr; SMEL; William Harvey Res Inst; Med Genet Unit

Journal: Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations

Published: Caciotti, A; Tonin, R; Rigoldi, M; Ferri, L; Catarzi, S; Cavicchi, C; Procopio, E; Donati, MA; Ficcadenti, A; Fiumara, A; Barone, R; Garavelli, L; Di Rocco, M; Filocamo, M; Antuzzi, D; Scarpa, M; Mooney, SD; Li, BA; Skouma, A; Bianca, S; Concolino, D; Casalone, R; Monti, E; Pantaleo, M; Giglio, S; Guerrini, R; Parini, R; Morrone, A;

DOI: false

WOS.SCI

Volume: Caciotti||Tonin||Rigoldi||Ferri||Catarzi||Cavicchi||Procopio||Donati||Ficcadenti||Fiumara||Barone||Garavelli||Rocco||Filocamo||Antuzzi||Scarpa||Mooney||Li||Skouma||Bianca||Concolino||Casalone||Monti||Pantaleo||Giglio||Guerrini||Parini||Morrone Pages: 113950731||114001411||105514465||114001411||113950731||113950731||113950731||113950731||102396996||124687399||124687399||115050613||104623613||112691879||100259331||100284496||114524222||108791048||107903429||107903429||114001411||105514465||114001411-closed

Keywords: 2015

BOLOGNA – ITA

Authors: AREA MIN. 10 - Scienze dell'antichita,filologico-letterarie e storico-artistiche; ITA; title_year; MATCH; 1

Published: Mi traduci una storia ? Riflessioni sulla traduzione per l’infanzia e per i ragazzi

ValladolidSpag

Authors: AREA MIN. 10 - Scienze dell'antichita,filologico-letterarie e storico-artistiche; Non assegn; ESP; title_year; MATCH; 1

Published: Metodologías y aplicaciones en la investigación en traducción e interpretación con corpus [Methodologies and applications in corpus-based and corpus-driven Translation and Interpreting re-search]