View in EDS HTML Full Text PDF Full Text

A Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis.

Saved in:
Bibliographic Details
Title: A Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis.
Authors: Ciampana V; Neurology Unit, Department of Translational Medicine, Maggiore Della Carità Hospital, University of Piemonte Orientale, 28100 Novara, Italy., Corrado L; Department of Translational Medicine, Genetic Laboratory, Università del Piemonte Orientale (UPO), 28100 Novara, Italy.; Department of Health Sciences, Center on Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale (UPO), 28100 Novara, Italy., Magistrelli L; Parkinson Institute of Milan, ASST G.Pini-CTO, 20122 Milano, Italy., Contaldi E; Parkinson Institute of Milan, ASST G.Pini-CTO, 20122 Milano, Italy., Comi C; Neurology Unit, Department of Translational Medicine, Maggiore Della Carità Hospital, University of Piemonte Orientale, 28100 Novara, Italy., D'Alfonso S; Department of Health Sciences, Center on Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale (UPO), 28100 Novara, Italy., Vecchio D; Neurology Unit, Department of Translational Medicine, Maggiore Della Carità Hospital, University of Piemonte Orientale, 28100 Novara, Italy.; Department of Health Sciences, Center on Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale (UPO), 28100 Novara, Italy.
Source: Genes [Genes (Basel)] 2024 Nov 29; Vol. 15 (12). Date of Electronic Publication: 2024 Nov 29.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39766823
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Ciampana+V%22">Ciampana V</searchLink>; Neurology Unit, Department of Translational Medicine, Maggiore Della Carità Hospital, University of Piemonte Orientale, 28100 Novara, Italy.<br /><searchLink fieldCode="AU" term="%22Corrado+L%22">Corrado L</searchLink>; Department of Translational Medicine, Genetic Laboratory, Università del Piemonte Orientale (UPO), 28100 Novara, Italy.; Department of Health Sciences, Center on Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale (UPO), 28100 Novara, Italy.<br /><searchLink fieldCode="AU" term="%22Magistrelli+L%22">Magistrelli L</searchLink>; Parkinson Institute of Milan, ASST G.Pini-CTO, 20122 Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Contaldi+E%22">Contaldi E</searchLink>; Parkinson Institute of Milan, ASST G.Pini-CTO, 20122 Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Comi+C%22">Comi C</searchLink>; Neurology Unit, Department of Translational Medicine, Maggiore Della Carità Hospital, University of Piemonte Orientale, 28100 Novara, Italy.<br /><searchLink fieldCode="AU" term="%22D'Alfonso+S%22">D'Alfonso S</searchLink>; Department of Health Sciences, Center on Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale (UPO), 28100 Novara, Italy.<br /><searchLink fieldCode="AU" term="%22Vecchio+D%22">Vecchio D</searchLink>; Neurology Unit, Department of Translational Medicine, Maggiore Della Carità Hospital, University of Piemonte Orientale, 28100 Novara, Italy.; Department of Health Sciences, Center on Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale (UPO), 28100 Novara, Italy.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2024 Nov 29; Vol. 15 (12). <i>Date of Electronic Publication: </i>2024 Nov 29.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39766823
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.3390/genes15121556
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: A Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Ciampana V
      – PersonEntity:
          Name:
            NameFull: Corrado L
      – PersonEntity:
          Name:
            NameFull: Magistrelli L
      – PersonEntity:
          Name:
            NameFull: Contaldi E
      – PersonEntity:
          Name:
            NameFull: Comi C
      – PersonEntity:
          Name:
            NameFull: D'Alfonso S
      – PersonEntity:
          Name:
            NameFull: Vecchio D
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 29
              M: 11
              Text: 2024 Nov 29
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 2073-4425
          Numbering:
            – Type: volume
              Value: 15
            – Type: issue
              Value: 12
          Titles:
            – TitleFull: Genes
              Type: main
ResultId 1