Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy
Title: | Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy |
---|---|
Authors: | Verrigni, Daniela, Di Nottia, Michela, Ardissone, Anna, Baruffini, Enrico, Nasca, Alessia, Legati, Andrea, Bellacchio, Emanuele, Fagiolari, Gigliola, Martinelli, Diego, Fusco, Lucia, Battaglia, Domenica, Trani, Giulia, Versienti, Gianmarco, Marchet, Silvia, Torraco, Alessandra, Rizza, Teresa, Verardo, Margherita, D'Amico, Adele, Diodato, Daria, Moroni, Isabella, Lamperti, Costanza, Petrini, Stefania, Moggio, Maurizio, Goffrini, Paola, Ghezzi, Daniele, Carrozzo, Rosalba, Bertini, Enrico |
Source: | Human mutation. 40(5):601-618 |
Availability: | http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100090565328.0x000001&indx=1&recIds=ETOCvdc_100090565328.0x000001 |
Database: | British Library Document Supply Centre Inside Serials & Conference Proceedings |
FullText | Text: Availability: 0 CustomLinks: – Url: https://resolver.ebsco.com/c/xy5jbn/result?sid=EBSCO:edsbl&genre=article&issn=10597794&ISBN=&volume=40&issue=5&date=20190101&spage=601&pages=601-618&title=Human mutation&atitle=Clinical%E2%80%90genetic%20features%20and%20peculiar%20muscle%20histopathology%20in%20infantile%20DNM1L%E2%80%90related%20mitochondrial%20epileptic%20encephalopathy&aulast=Verrigni%2C%20Daniela&id=DOI: Name: Full Text Finder (for New FTF UI) (s8985755) Category: fullText Text: Find It @ SCU Libraries MouseOverText: Find It @ SCU Libraries |
---|---|
Header | DbId: edsbl DbLabel: British Library Document Supply Centre Inside Serials & Conference Proceedings An: vdc.100090565328.0x000001 RelevancyScore: 877 AccessLevel: 2 PubType: Periodical PubTypeId: serialPeriodical PreciseRelevancyScore: 877.259582519531 |
IllustrationInfo | |
Items | – Name: Title Label: Title Group: Ti Data: Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Verrigni%2C+Daniela%22">Verrigni, Daniela</searchLink><br /><searchLink fieldCode="AR" term="%22Di+Nottia%2C+Michela%22">Di Nottia, Michela</searchLink><br /><searchLink fieldCode="AR" term="%22Ardissone%2C+Anna%22">Ardissone, Anna</searchLink><br /><searchLink fieldCode="AR" term="%22Baruffini%2C+Enrico%22">Baruffini, Enrico</searchLink><br /><searchLink fieldCode="AR" term="%22Nasca%2C+Alessia%22">Nasca, Alessia</searchLink><br /><searchLink fieldCode="AR" term="%22Legati%2C+Andrea%22">Legati, Andrea</searchLink><br /><searchLink fieldCode="AR" term="%22Bellacchio%2C+Emanuele%22">Bellacchio, Emanuele</searchLink><br /><searchLink fieldCode="AR" term="%22Fagiolari%2C+Gigliola%22">Fagiolari, Gigliola</searchLink><br /><searchLink fieldCode="AR" term="%22Martinelli%2C+Diego%22">Martinelli, Diego</searchLink><br /><searchLink fieldCode="AR" term="%22Fusco%2C+Lucia%22">Fusco, Lucia</searchLink><br /><searchLink fieldCode="AR" term="%22Battaglia%2C+Domenica%22">Battaglia, Domenica</searchLink><br /><searchLink fieldCode="AR" term="%22Trani%2C+Giulia%22">Trani, Giulia</searchLink><br /><searchLink fieldCode="AR" term="%22Versienti%2C+Gianmarco%22">Versienti, Gianmarco</searchLink><br /><searchLink fieldCode="AR" term="%22Marchet%2C+Silvia%22">Marchet, Silvia</searchLink><br /><searchLink fieldCode="AR" term="%22Torraco%2C+Alessandra%22">Torraco, Alessandra</searchLink><br /><searchLink fieldCode="AR" term="%22Rizza%2C+Teresa%22">Rizza, Teresa</searchLink><br /><searchLink fieldCode="AR" term="%22Verardo%2C+Margherita%22">Verardo, Margherita</searchLink><br /><searchLink fieldCode="AR" term="%22D'Amico%2C+Adele%22">D'Amico, Adele</searchLink><br /><searchLink fieldCode="AR" term="%22Diodato%2C+Daria%22">Diodato, Daria</searchLink><br /><searchLink fieldCode="AR" term="%22Moroni%2C+Isabella%22">Moroni, Isabella</searchLink><br /><searchLink fieldCode="AR" term="%22Lamperti%2C+Costanza%22">Lamperti, Costanza</searchLink><br /><searchLink fieldCode="AR" term="%22Petrini%2C+Stefania%22">Petrini, Stefania</searchLink><br /><searchLink fieldCode="AR" term="%22Moggio%2C+Maurizio%22">Moggio, Maurizio</searchLink><br /><searchLink fieldCode="AR" term="%22Goffrini%2C+Paola%22">Goffrini, Paola</searchLink><br /><searchLink fieldCode="AR" term="%22Ghezzi%2C+Daniele%22">Ghezzi, Daniele</searchLink><br /><searchLink fieldCode="AR" term="%22Carrozzo%2C+Rosalba%22">Carrozzo, Rosalba</searchLink><br /><searchLink fieldCode="AR" term="%22Bertini%2C+Enrico%22">Bertini, Enrico</searchLink> – Name: TitleSource Label: Source Group: Src Data: <i>Human mutation</i>. 40(5):601-618 – Name: URL Label: Availability Group: URL Data: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100090565328.0x000001&indx=1&recIds=ETOCvdc_100090565328.0x000001 |
PLink | https://login.libproxy.scu.edu/login?url=https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&scope=site&db=edsbl&AN=vdc.100090565328.0x000001 |
RecordInfo | BibRecord: BibEntity: Languages: – Text: English PhysicalDescription: Pagination: PageCount: 18 StartPage: 601 Titles: – TitleFull: Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Verrigni, Daniela – PersonEntity: Name: NameFull: Di Nottia, Michela – PersonEntity: Name: NameFull: Ardissone, Anna – PersonEntity: Name: NameFull: Baruffini, Enrico – PersonEntity: Name: NameFull: Nasca, Alessia – PersonEntity: Name: NameFull: Legati, Andrea – PersonEntity: Name: NameFull: Bellacchio, Emanuele – PersonEntity: Name: NameFull: Fagiolari, Gigliola – PersonEntity: Name: NameFull: Martinelli, Diego – PersonEntity: Name: NameFull: Fusco, Lucia – PersonEntity: Name: NameFull: Battaglia, Domenica – PersonEntity: Name: NameFull: Trani, Giulia – PersonEntity: Name: NameFull: Versienti, Gianmarco – PersonEntity: Name: NameFull: Marchet, Silvia – PersonEntity: Name: NameFull: Torraco, Alessandra – PersonEntity: Name: NameFull: Rizza, Teresa – PersonEntity: Name: NameFull: Verardo, Margherita – PersonEntity: Name: NameFull: D'Amico, Adele – PersonEntity: Name: NameFull: Diodato, Daria – PersonEntity: Name: NameFull: Moroni, Isabella – PersonEntity: Name: NameFull: Lamperti, Costanza – PersonEntity: Name: NameFull: Petrini, Stefania – PersonEntity: Name: NameFull: Moggio, Maurizio – PersonEntity: Name: NameFull: Goffrini, Paola – PersonEntity: Name: NameFull: Ghezzi, Daniele – PersonEntity: Name: NameFull: Carrozzo, Rosalba – PersonEntity: Name: NameFull: Bertini, Enrico IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Type: published Y: 2019 Identifiers: – Type: issn-print Value: 10597794 – Type: issn-locals Value: edsbl.Periodical Numbering: – Type: volume Value: 40 – Type: issue Value: 5 Titles: – TitleFull: Human mutation Type: main |
ResultId | 1 |