View in EDS

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

Saved in:
Bibliographic Details
Title: Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Authors: Thomsen M; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Ott F; Medical Systems Biology Division, Institute of Experimental Dermatology, University of Lübeck, 23538 Lübeck, Germany., Loens S; Institute of Systems Motor Science, University of Lübeck, 23538 Lübeck, Germany., Kilic-Berkmen G; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30329, USA., Tan AH; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Lim SY; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Lohmann E; Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, 72076 Tübingen, Germany., Schröder KM; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Ipsen L; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Nothacker LA; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Welzel L; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Rudnik AS; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Hinrichs F; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Odorfer T; Department of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany., Zeuner KE; Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany., Schumann F; Department of Neurology, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany., Kühn AA; Department of Neurology, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany., Zittel S; Department of Neurology, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Moeller M; Medical Systems Biology Division, Institute of Experimental Dermatology, University of Lübeck, 23538 Lübeck, Germany., Pfister R; Neurological Practice, 86356 Neusäß, Germany., Kamm C; Department of Neurology, University Medical Center Rostock, 18057 Rostock, Germany., Lang AE; Edmond J. Safra Program in Parkinson's Disease, the Rossy PSP Centre and Department of Medicine (Neurology), Toronto Western Hospital, University of Toronto, Toronto, ON M5T 2S8, Canada., Tay YW; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.; Department of Biomedical Science, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Vidailhet M; Sorbonne University, Paris Brain Institute (ICM), Inserm, CNRS, and Center of Excellence of Neurodegenerative Disease (CoEN), AP-HP, Pitié-Salpêtrière Hospital, 75013 Paris, France., Roze E; Sorbonne University, Paris Brain Institute (ICM), Inserm, CNRS, and Center of Excellence of Neurodegenerative Disease (CoEN), AP-HP, Pitié-Salpêtrière Hospital, 75013 Paris, France., Perlmutter JS; Departments of Neurology, Radiology and Neuroscience, Washington University, St. Louis, MO 63110, USA., Feuerstein JS; Department of Neurology, University of Colorado, Aurora, CO 80045, USA., Fung VSC; Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, NSW 2145, Australia., Chang F; Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, NSW 2145, Australia., Barbano RL; Department of Neurology, University of Rochester, Rochester, NY 14627, US., Bellows S; Baylor College of Medicine, Department of Neurology, Houston, TX 77030, US., Shukla AAW; Department of Neurology, University of Florida, Gainesville, FL 32611, USA., Espay AJ; James J and Joan A Gardner Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, Cincinnati, OH 45219, USA., LeDoux MS; Department of Psychology, University of Memphis, Memphis, TN 38152, USA AND Veracity Neuroscience LLC, Memphis, TN 38157, USA., Berman BD; Department of Neurology, Virginia Commonwealth University, Richmond, VA 23298, USA., Reich S; Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA., Deik A; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Franke A; Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany., Wittig M; Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany., Franzenburg S; Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany., Volkmann J; Department of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany., Brüggemann N; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, 23538 Lübeck, Germany., Jinnah HA; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30329, USA., Bäumer T; Institute of Systems Motor Science, University of Lübeck, 23538 Lübeck, Germany., Klein C; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany., Busch H; Medical Systems Biology Division, Institute of Experimental Dermatology, University of Lübeck, 23538 Lübeck, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Dec 05. Date of Electronic Publication: 2024 Dec 05.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39677454
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Thomsen+M%22">Thomsen M</searchLink>; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Ott+F%22">Ott F</searchLink>; Medical Systems Biology Division, Institute of Experimental Dermatology, University of Lübeck, 23538 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Loens+S%22">Loens S</searchLink>; Institute of Systems Motor Science, University of Lübeck, 23538 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Kilic-Berkmen+G%22">Kilic-Berkmen G</searchLink>; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30329, USA.<br /><searchLink fieldCode="AU" term="%22Tan+AH%22">Tan AH</searchLink>; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Lim+SY%22">Lim SY</searchLink>; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Lohmann+E%22">Lohmann E</searchLink>; Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Schröder+KM%22">Schröder KM</searchLink>; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Ipsen+L%22">Ipsen L</searchLink>; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Nothacker+LA%22">Nothacker LA</searchLink>; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Welzel+L%22">Welzel L</searchLink>; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Rudnik+AS%22">Rudnik AS</searchLink>; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Hinrichs+F%22">Hinrichs F</searchLink>; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Odorfer+T%22">Odorfer T</searchLink>; Department of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Zeuner+KE%22">Zeuner KE</searchLink>; Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Schumann+F%22">Schumann F</searchLink>; Department of Neurology, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Kühn+AA%22">Kühn AA</searchLink>; Department of Neurology, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Zittel+S%22">Zittel S</searchLink>; Department of Neurology, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Moeller+M%22">Moeller M</searchLink>; Medical Systems Biology Division, Institute of Experimental Dermatology, University of Lübeck, 23538 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Pfister+R%22">Pfister R</searchLink>; Neurological Practice, 86356 Neusäß, Germany.<br /><searchLink fieldCode="AU" term="%22Kamm+C%22">Kamm C</searchLink>; Department of Neurology, University Medical Center Rostock, 18057 Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Lang+AE%22">Lang AE</searchLink>; Edmond J. Safra Program in Parkinson's Disease, the Rossy PSP Centre and Department of Medicine (Neurology), Toronto Western Hospital, University of Toronto, Toronto, ON M5T 2S8, Canada.<br /><searchLink fieldCode="AU" term="%22Tay+YW%22">Tay YW</searchLink>; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.; Department of Biomedical Science, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Vidailhet+M%22">Vidailhet M</searchLink>; Sorbonne University, Paris Brain Institute (ICM), Inserm, CNRS, and Center of Excellence of Neurodegenerative Disease (CoEN), AP-HP, Pitié-Salpêtrière Hospital, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Roze+E%22">Roze E</searchLink>; Sorbonne University, Paris Brain Institute (ICM), Inserm, CNRS, and Center of Excellence of Neurodegenerative Disease (CoEN), AP-HP, Pitié-Salpêtrière Hospital, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Perlmutter+JS%22">Perlmutter JS</searchLink>; Departments of Neurology, Radiology and Neuroscience, Washington University, St. Louis, MO 63110, USA.<br /><searchLink fieldCode="AU" term="%22Feuerstein+JS%22">Feuerstein JS</searchLink>; Department of Neurology, University of Colorado, Aurora, CO 80045, USA.<br /><searchLink fieldCode="AU" term="%22Fung+VSC%22">Fung VSC</searchLink>; Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, NSW 2145, Australia.<br /><searchLink fieldCode="AU" term="%22Chang+F%22">Chang F</searchLink>; Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, NSW 2145, Australia.<br /><searchLink fieldCode="AU" term="%22Barbano+RL%22">Barbano RL</searchLink>; Department of Neurology, University of Rochester, Rochester, NY 14627, US.<br /><searchLink fieldCode="AU" term="%22Bellows+S%22">Bellows S</searchLink>; Baylor College of Medicine, Department of Neurology, Houston, TX 77030, US.<br /><searchLink fieldCode="AU" term="%22Shukla+AAW%22">Shukla AAW</searchLink>; Department of Neurology, University of Florida, Gainesville, FL 32611, USA.<br /><searchLink fieldCode="AU" term="%22Espay+AJ%22">Espay AJ</searchLink>; James J and Joan A Gardner Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, Cincinnati, OH 45219, USA.<br /><searchLink fieldCode="AU" term="%22LeDoux+MS%22">LeDoux MS</searchLink>; Department of Psychology, University of Memphis, Memphis, TN 38152, USA AND Veracity Neuroscience LLC, Memphis, TN 38157, USA.<br /><searchLink fieldCode="AU" term="%22Berman+BD%22">Berman BD</searchLink>; Department of Neurology, Virginia Commonwealth University, Richmond, VA 23298, USA.<br /><searchLink fieldCode="AU" term="%22Reich+S%22">Reich S</searchLink>; Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA.<br /><searchLink fieldCode="AU" term="%22Deik+A%22">Deik A</searchLink>; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Franke+A%22">Franke A</searchLink>; Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Wittig+M%22">Wittig M</searchLink>; Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Franzenburg+S%22">Franzenburg S</searchLink>; Institute of Clinical Molecular Biology, Christian-Albrechts-Universität and University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Volkmann+J%22">Volkmann J</searchLink>; Department of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Brüggemann+N%22">Brüggemann N</searchLink>; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, 23538 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Jinnah+HA%22">Jinnah HA</searchLink>; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30329, USA.<br /><searchLink fieldCode="AU" term="%22Bäumer+T%22">Bäumer T</searchLink>; Institute of Systems Motor Science, University of Lübeck, 23538 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Klein+C%22">Klein C</searchLink>; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Busch+H%22">Busch H</searchLink>; Medical Systems Biology Division, Institute of Experimental Dermatology, University of Lübeck, 23538 Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Lohmann+K%22">Lohmann K</searchLink>; Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101767986%22">MedRxiv : the preprint server for health sciences</searchLink> [medRxiv] 2024 Dec 05. <i>Date of Electronic Publication: </i>2024 Dec 05.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Preprint
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39677454
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1101/2024.12.02.24316741
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Thomsen M
      – PersonEntity:
          Name:
            NameFull: Ott F
      – PersonEntity:
          Name:
            NameFull: Loens S
      – PersonEntity:
          Name:
            NameFull: Kilic-Berkmen G
      – PersonEntity:
          Name:
            NameFull: Tan AH
      – PersonEntity:
          Name:
            NameFull: Lim SY
      – PersonEntity:
          Name:
            NameFull: Lohmann E
      – PersonEntity:
          Name:
            NameFull: Schröder KM
      – PersonEntity:
          Name:
            NameFull: Ipsen L
      – PersonEntity:
          Name:
            NameFull: Nothacker LA
      – PersonEntity:
          Name:
            NameFull: Welzel L
      – PersonEntity:
          Name:
            NameFull: Rudnik AS
      – PersonEntity:
          Name:
            NameFull: Hinrichs F
      – PersonEntity:
          Name:
            NameFull: Odorfer T
      – PersonEntity:
          Name:
            NameFull: Zeuner KE
      – PersonEntity:
          Name:
            NameFull: Schumann F
      – PersonEntity:
          Name:
            NameFull: Kühn AA
      – PersonEntity:
          Name:
            NameFull: Zittel S
      – PersonEntity:
          Name:
            NameFull: Moeller M
      – PersonEntity:
          Name:
            NameFull: Pfister R
      – PersonEntity:
          Name:
            NameFull: Kamm C
      – PersonEntity:
          Name:
            NameFull: Lang AE
      – PersonEntity:
          Name:
            NameFull: Tay YW
      – PersonEntity:
          Name:
            NameFull: Vidailhet M
      – PersonEntity:
          Name:
            NameFull: Roze E
      – PersonEntity:
          Name:
            NameFull: Perlmutter JS
      – PersonEntity:
          Name:
            NameFull: Feuerstein JS
      – PersonEntity:
          Name:
            NameFull: Fung VSC
      – PersonEntity:
          Name:
            NameFull: Chang F
      – PersonEntity:
          Name:
            NameFull: Barbano RL
      – PersonEntity:
          Name:
            NameFull: Bellows S
      – PersonEntity:
          Name:
            NameFull: Shukla AAW
      – PersonEntity:
          Name:
            NameFull: Espay AJ
      – PersonEntity:
          Name:
            NameFull: LeDoux MS
      – PersonEntity:
          Name:
            NameFull: Berman BD
      – PersonEntity:
          Name:
            NameFull: Reich S
      – PersonEntity:
          Name:
            NameFull: Deik A
      – PersonEntity:
          Name:
            NameFull: Franke A
      – PersonEntity:
          Name:
            NameFull: Wittig M
      – PersonEntity:
          Name:
            NameFull: Franzenburg S
      – PersonEntity:
          Name:
            NameFull: Volkmann J
      – PersonEntity:
          Name:
            NameFull: Brüggemann N
      – PersonEntity:
          Name:
            NameFull: Jinnah HA
      – PersonEntity:
          Name:
            NameFull: Bäumer T
      – PersonEntity:
          Name:
            NameFull: Klein C
      – PersonEntity:
          Name:
            NameFull: Busch H
      – PersonEntity:
          Name:
            NameFull: Lohmann K
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 05
              M: 12
              Text: 2024 Dec 05
              Type: published
              Y: 2024
          Titles:
            – TitleFull: MedRxiv : the preprint server for health sciences
              Type: main
ResultId 1