View in EDS HTML Full Text PDF Full Text

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.

Saved in:
Bibliographic Details
Title: Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Authors: Borgia P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy., Baldassari S; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Pedemonte N; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Alkhunaizi E; Department of Genetics, North York General Hospital, University of Toronto, Toronto, ON, Canada., D'Onofrio G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy., Tortora D; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Calì E; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK., Scudieri P; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Balagura G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy., Musante I; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Diana MC; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy., Pedemonte M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy., Vari MS; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy., Iacomino M; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy., Chimenz R; Unit of Pediatric Nephrology and Dialysis, Department of Human Pathology in Adult and Developmental Age 'Gaetano Barresi', University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy., Mangano GD; Department Pro.M.I.S.E. 'G. D'Alessandro', University of Palermo, Palermo, Italy., Mohammadi MH; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran., Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, SW170RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, QC, H4A 3J1, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Schiaffino MC; Pediatric Clinic and Endocrinology Unit, Department of General and Specialist Pediatric Sciences, University of Genoa, 16147, Genoa, Italy., Maghnie M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Clinic and Endocrinology Unit, Department of General and Specialist Pediatric Sciences, University of Genoa, 16147, Genoa, Italy., Soler MA; Computational Modelling of Nanoscale and Biophysical Systems Laboratory, Italian Institute of Technology, 16163, Genoa, Italy., Echiverri K; Departments of Neurology and Ophthalmology, University of Kentucky, Lexington, 40506, USA., Abrams CK; Department of Neurology and Rehabilitation, College of Medicine, University of Illinois at Chicago, Chicago, IL, 60607, USA., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy., Fortuna S; Computational Modelling of Nanoscale and Biophysical Systems Laboratory, Italian Institute of Technology, 16163, Genoa, Italy.; Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Fiorillo C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy. chiarafiorillo@gaslini.org.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy. chiarafiorillo@gaslini.org., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK. v.salpietro@ucl.ac.uk.; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100, L'Aquila, Italy. v.salpietro@ucl.ac.uk.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jul 19; Vol. 17 (1), pp. 286. Date of Electronic Publication: 2022 Jul 19.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis 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: 35854306
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Borgia+P%22">Borgia P</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Baldassari+S%22">Baldassari S</searchLink>; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Pedemonte+N%22">Pedemonte N</searchLink>; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Alkhunaizi+E%22">Alkhunaizi E</searchLink>; Department of Genetics, North York General Hospital, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22D'Onofrio+G%22">D'Onofrio G</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Tortora+D%22">Tortora D</searchLink>; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Calì+E%22">Calì E</searchLink>; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Scudieri+P%22">Scudieri P</searchLink>; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Balagura+G%22">Balagura G</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Musante+I%22">Musante I</searchLink>; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Diana+MC%22">Diana MC</searchLink>; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Pedemonte+M%22">Pedemonte M</searchLink>; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Vari+MS%22">Vari MS</searchLink>; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Iacomino+M%22">Iacomino M</searchLink>; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Riva+A%22">Riva A</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Chimenz+R%22">Chimenz R</searchLink>; Unit of Pediatric Nephrology and Dialysis, Department of Human Pathology in Adult and Developmental Age 'Gaetano Barresi', University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy.<br /><searchLink fieldCode="AU" term="%22Mangano+GD%22">Mangano GD</searchLink>; Department Pro.M.I.S.E. 'G. D'Alessandro', University of Palermo, Palermo, Italy.<br /><searchLink fieldCode="AU" term="%22Mohammadi+MH%22">Mohammadi MH</searchLink>; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran.<br /><searchLink fieldCode="AU" term="%22Toosi+MB%22">Toosi MB</searchLink>; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.<br /><searchLink fieldCode="AU" term="%22Ashrafzadeh+F%22">Ashrafzadeh F</searchLink>; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.<br /><searchLink fieldCode="AU" term="%22Imannezhad+S%22">Imannezhad S</searchLink>; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.<br /><searchLink fieldCode="AU" term="%22Karimiani+EG%22">Karimiani EG</searchLink>; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, SW170RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.<br /><searchLink fieldCode="AU" term="%22Accogli+A%22">Accogli A</searchLink>; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, QC, H4A 3J1, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Schiaffino+MC%22">Schiaffino MC</searchLink>; Pediatric Clinic and Endocrinology Unit, Department of General and Specialist Pediatric Sciences, University of Genoa, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Maghnie+M%22">Maghnie M</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Clinic and Endocrinology Unit, Department of General and Specialist Pediatric Sciences, University of Genoa, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Soler+MA%22">Soler MA</searchLink>; Computational Modelling of Nanoscale and Biophysical Systems Laboratory, Italian Institute of Technology, 16163, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Echiverri+K%22">Echiverri K</searchLink>; Departments of Neurology and Ophthalmology, University of Kentucky, Lexington, 40506, USA.<br /><searchLink fieldCode="AU" term="%22Abrams+CK%22">Abrams CK</searchLink>; Department of Neurology and Rehabilitation, College of Medicine, University of Illinois at Chicago, Chicago, IL, 60607, USA.<br /><searchLink fieldCode="AU" term="%22Striano+P%22">Striano P</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Fortuna+S%22">Fortuna S</searchLink>; Computational Modelling of Nanoscale and Biophysical Systems Laboratory, Italian Institute of Technology, 16163, Genoa, Italy.; Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Zara+F%22">Zara F</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Fiorillo+C%22">Fiorillo C</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy. chiarafiorillo@gaslini.org.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy. chiarafiorillo@gaslini.org.<br /><searchLink fieldCode="AU" term="%22Salpietro+V%22">Salpietro V</searchLink>; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK. v.salpietro@ucl.ac.uk.; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100, L'Aquila, Italy. v.salpietro@ucl.ac.uk.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2022 Jul 19; Vol. 17 (1), pp. 286. <i>Date of Electronic Publication: </i>2022 Jul 19.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35854306
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13023-022-02415-5
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 286
    Titles:
      – TitleFull: Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Borgia P
      – PersonEntity:
          Name:
            NameFull: Baldassari S
      – PersonEntity:
          Name:
            NameFull: Pedemonte N
      – PersonEntity:
          Name:
            NameFull: Alkhunaizi E
      – PersonEntity:
          Name:
            NameFull: D'Onofrio G
      – PersonEntity:
          Name:
            NameFull: Tortora D
      – PersonEntity:
          Name:
            NameFull: Calì E
      – PersonEntity:
          Name:
            NameFull: Scudieri P
      – PersonEntity:
          Name:
            NameFull: Balagura G
      – PersonEntity:
          Name:
            NameFull: Musante I
      – PersonEntity:
          Name:
            NameFull: Diana MC
      – PersonEntity:
          Name:
            NameFull: Pedemonte M
      – PersonEntity:
          Name:
            NameFull: Vari MS
      – PersonEntity:
          Name:
            NameFull: Iacomino M
      – PersonEntity:
          Name:
            NameFull: Riva A
      – PersonEntity:
          Name:
            NameFull: Chimenz R
      – PersonEntity:
          Name:
            NameFull: Mangano GD
      – PersonEntity:
          Name:
            NameFull: Mohammadi MH
      – PersonEntity:
          Name:
            NameFull: Toosi MB
      – PersonEntity:
          Name:
            NameFull: Ashrafzadeh F
      – PersonEntity:
          Name:
            NameFull: Imannezhad S
      – PersonEntity:
          Name:
            NameFull: Karimiani EG
      – PersonEntity:
          Name:
            NameFull: Accogli A
      – PersonEntity:
          Name:
            NameFull: Schiaffino MC
      – PersonEntity:
          Name:
            NameFull: Maghnie M
      – PersonEntity:
          Name:
            NameFull: Soler MA
      – PersonEntity:
          Name:
            NameFull: Echiverri K
      – PersonEntity:
          Name:
            NameFull: Abrams CK
      – PersonEntity:
          Name:
            NameFull: Striano P
      – PersonEntity:
          Name:
            NameFull: Fortuna S
      – PersonEntity:
          Name:
            NameFull: Maroofian R
      – PersonEntity:
          Name:
            NameFull: Houlden H
      – PersonEntity:
          Name:
            NameFull: Zara F
      – PersonEntity:
          Name:
            NameFull: Fiorillo C
      – PersonEntity:
          Name:
            NameFull: Salpietro V
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 19
              M: 07
              Text: 2022 Jul 19
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1750-1172
          Numbering:
            – Type: volume
              Value: 17
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Orphanet journal of rare diseases
              Type: main
ResultId 1