View in EDS HTML Full Text PDF Full Text

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Saved in:
Bibliographic Details
Title: Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Authors: Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Ortigoza-Escobar JD; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain., Stringer BW; Griffith Institute for Drug Discovery, Centre for Cellular Phenomics, School of Environment and Science Griffith University, Brisbane, Queensland, Australia., Ganieva M; Avicenna Tajik State Medical University, Department of Neurology and Medical Genetics, Dushanbe, Tajikistan., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Macaya A; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Department of Paediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Laner A; MGZ - Medical Genetics Centre, Munich, Germany., Onbool E; Neurology department, King Abdulaziz Specialist Hospital, Skaka Aljouf, Saudi Arabia., Al-Shammari R; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Al-Owain M; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Deconinck N; Centre de Référence des Maladies Neuromusculaires et Service de Neurologie Pédiatrique, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium., Vilain C; Department of Genetics, Hôpital Universitaire Reine Fabiola (HUDERF); Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium., Dontaine P; Centre de Référence des Maladies Neuromusculaires et Service de Neurologie Pédiatrique, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium., Self E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Akram R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Neurochemical biology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad, Pakistan., Hussain G; Neurochemical biology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad, Pakistan., Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, Faisalabad, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan., Iqbal J; Department of Neurology, Allied Hospital, Faisalabad Medical University, Faisalabad, Pakistan., Salpietro V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Neshatdoust M; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran., Kasiri M; School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran., Yesil G; Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Uygur T; Department of Pediatric Neurology, Bezmialem Vakif University, İstanbul, Turkey., Pysden K; Paediatric Neurology Department, Leeds Teaching Hospitals, Leeds General Infirmary, Leeds, United Kingdom., Berry IR; Yorkshire and North East Genomic Laboratory Hub Central Laboratory, Leeds, United Kingdom., Alves CA; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Giacomotto J; Griffith Institute for Drug Discovery, Centre for Cellular Phenomics, School of Environment and Science Griffith University, Brisbane, Queensland, Australia.; Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jun; Vol. 39 (6), pp. 983-995. Date of Electronic Publication: 2024 Apr 06.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord 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: 38581205
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Kaiyrzhanov+R%22">Kaiyrzhanov R</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ortigoza-Escobar+JD%22">Ortigoza-Escobar JD</searchLink>; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Stringer+BW%22">Stringer BW</searchLink>; Griffith Institute for Drug Discovery, Centre for Cellular Phenomics, School of Environment and Science Griffith University, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Ganieva+M%22">Ganieva M</searchLink>; Avicenna Tajik State Medical University, Department of Neurology and Medical Genetics, Dushanbe, Tajikistan.<br /><searchLink fieldCode="AU" term="%22Gowda+VK%22">Gowda VK</searchLink>; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Srinivasan+VM%22">Srinivasan VM</searchLink>; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Macaya+A%22">Macaya A</searchLink>; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Department of Paediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Laner+A%22">Laner A</searchLink>; MGZ - Medical Genetics Centre, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Onbool+E%22">Onbool E</searchLink>; Neurology department, King Abdulaziz Specialist Hospital, Skaka Aljouf, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Al-Shammari+R%22">Al-Shammari R</searchLink>; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Al-Owain+M%22">Al-Owain M</searchLink>; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Deconinck+N%22">Deconinck N</searchLink>; Centre de Référence des Maladies Neuromusculaires et Service de Neurologie Pédiatrique, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Vilain+C%22">Vilain C</searchLink>; Department of Genetics, Hôpital Universitaire Reine Fabiola (HUDERF); Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Dontaine+P%22">Dontaine P</searchLink>; Centre de Référence des Maladies Neuromusculaires et Service de Neurologie Pédiatrique, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Self+E%22">Self E</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Akram+R%22">Akram R</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Neurochemical biology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Hussain+G%22">Hussain G</searchLink>; Neurochemical biology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Baig+SM%22">Baig SM</searchLink>; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, Faisalabad, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Iqbal+J%22">Iqbal J</searchLink>; Department of Neurology, Allied Hospital, Faisalabad Medical University, Faisalabad, Pakistan.<br /><searchLink fieldCode="AU" term="%22Salpietro+V%22">Salpietro V</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Neshatdoust+M%22">Neshatdoust M</searchLink>; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran.<br /><searchLink fieldCode="AU" term="%22Kasiri+M%22">Kasiri M</searchLink>; School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran.<br /><searchLink fieldCode="AU" term="%22Yesil+G%22">Yesil G</searchLink>; Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Uygur+T%22">Uygur T</searchLink>; Department of Pediatric Neurology, Bezmialem Vakif University, İstanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Pysden+K%22">Pysden K</searchLink>; Paediatric Neurology Department, Leeds Teaching Hospitals, Leeds General Infirmary, Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Berry+IR%22">Berry IR</searchLink>; Yorkshire and North East Genomic Laboratory Hub Central Laboratory, Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Alves+CA%22">Alves CA</searchLink>; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Giacomotto+J%22">Giacomotto J</searchLink>; Griffith Institute for Drug Discovery, Centre for Cellular Phenomics, School of Environment and Science Griffith University, Brisbane, Queensland, Australia.; Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%228610688%22">Movement disorders : official journal of the Movement Disorder Society</searchLink> [Mov Disord] 2024 Jun; Vol. 39 (6), pp. 983-995. <i>Date of Electronic Publication: </i>2024 Apr 06.
– 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="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8610688 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1531-8257 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208853185%22">08853185 </searchLink><i>NLM ISO Abbreviation: </i>Mov Disord <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38581205
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/mds.29754
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 983
    Titles:
      – TitleFull: Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Kaiyrzhanov R
      – PersonEntity:
          Name:
            NameFull: Ortigoza-Escobar JD
      – PersonEntity:
          Name:
            NameFull: Stringer BW
      – PersonEntity:
          Name:
            NameFull: Ganieva M
      – PersonEntity:
          Name:
            NameFull: Gowda VK
      – PersonEntity:
          Name:
            NameFull: Srinivasan VM
      – PersonEntity:
          Name:
            NameFull: Macaya A
      – PersonEntity:
          Name:
            NameFull: Laner A
      – PersonEntity:
          Name:
            NameFull: Onbool E
      – PersonEntity:
          Name:
            NameFull: Al-Shammari R
      – PersonEntity:
          Name:
            NameFull: Al-Owain M
      – PersonEntity:
          Name:
            NameFull: Deconinck N
      – PersonEntity:
          Name:
            NameFull: Vilain C
      – PersonEntity:
          Name:
            NameFull: Dontaine P
      – PersonEntity:
          Name:
            NameFull: Self E
      – PersonEntity:
          Name:
            NameFull: Akram R
      – PersonEntity:
          Name:
            NameFull: Hussain G
      – PersonEntity:
          Name:
            NameFull: Baig SM
      – PersonEntity:
          Name:
            NameFull: Iqbal J
      – PersonEntity:
          Name:
            NameFull: Salpietro V
      – PersonEntity:
          Name:
            NameFull: Neshatdoust M
      – PersonEntity:
          Name:
            NameFull: Kasiri M
      – PersonEntity:
          Name:
            NameFull: Yesil G
      – PersonEntity:
          Name:
            NameFull: Uygur T
      – PersonEntity:
          Name:
            NameFull: Pysden K
      – PersonEntity:
          Name:
            NameFull: Berry IR
      – PersonEntity:
          Name:
            NameFull: Alves CA
      – PersonEntity:
          Name:
            NameFull: Giacomotto J
      – PersonEntity:
          Name:
            NameFull: Houlden H
      – PersonEntity:
          Name:
            NameFull: Maroofian R
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 06
              Text: 2024 Jun
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1531-8257
          Numbering:
            – Type: volume
              Value: 39
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: Movement disorders : official journal of the Movement Disorder Society
              Type: main
ResultId 1