Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
Publication Date
March 31, 2017
Authors
Zafar Iqbal, Siri L. Rydning, Iselin M. Wedding, Jeanette Koht, et al
Volume
12
Issue
3
Pages
e0174667
DOI
https://dx.plos.org/10.1371/journal.pone.0174667
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0174667
Scopus
85016513703
Mendeley
http://www.mendeley.com/research/targeted-high-throughput-sequencing-hereditary-ataxia-spastic-paraplegia
Events
Loading … Spinner

Mendeley | Further Information

{"title"=>"Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia", "type"=>"journal", "authors"=>[{"first_name"=>"Zafar", "last_name"=>"Iqbal", "scopus_author_id"=>"57200640534"}, {"first_name"=>"Siri L.", "last_name"=>"Rydning", "scopus_author_id"=>"57056480400"}, {"first_name"=>"Iselin M.", "last_name"=>"Wedding", "scopus_author_id"=>"55938686200"}, {"first_name"=>"Jeanette", "last_name"=>"Koht", "scopus_author_id"=>"16177757700"}, {"first_name"=>"Lasse", "last_name"=>"Pihlstrøm", "scopus_author_id"=>"40661706500"}, {"first_name"=>"Aina H.", "last_name"=>"Rengmark", "scopus_author_id"=>"56465921300"}, {"first_name"=>"Sandra P.", "last_name"=>"Henriksen", "scopus_author_id"=>"56814490800"}, {"first_name"=>"Chantal M.E.", "last_name"=>"Tallaksen", "scopus_author_id"=>"6701619496"}, {"first_name"=>"Mathias", "last_name"=>"Toft", "scopus_author_id"=>"56485505900"}], "year"=>2017, "source"=>"PLoS ONE", "identifiers"=>{"doi"=>"10.1371/journal.pone.0174667", "pui"=>"615075823", "scopus"=>"2-s2.0-85016513703", "issn"=>"19326203", "pmid"=>"PMC5375131", "sgr"=>"85016513703", "isbn"=>"1111111111"}, "id"=>"2963eaac-2842-31c0-888d-a2e8704567c2", "abstract"=>"Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed. Here, we have assessed molecular diagnosis by gene panel sequencing in 105 early and late-onset hereditary ataxia and spastic paraplegia probands, in whom extensive previous investigations had failed to identify the genetic cause of disease. Pathogenic and likely-pathogenic variants were identified in 20 probands (19%) and variants of uncertain significance in ten probands (10%). Together these accounted for 30 probands (29%) and involved 18 different genes. Among several interesting findings, dominantly inherited KIF1A variants, p.(Val8Met) and p.(Ile27Thr) segregated in two independent families, both presenting with a pure spastic paraplegia phenotype. Two homozygous missense variants, p.(Gly4230Ser) and p.(Leu4221Val) were found in SACS in one consanguineous family, presenting with spastic ataxia and isolated cerebellar atrophy. The average disease duration in probands with pathogenic and likely-pathogenic variants was 31 years, ranging from 4 to 51 years. In conclusion, this study confirmed and expanded the clinical phenotypes associated with known disease genes. The results demonstrate that gene panel sequencing and similar sequencing approaches can serve as efficient diagnostic tools for different heterogeneous disorders. Early use of such strategies may help to reduce both costs and time of the diagnostic process.", "link"=>"http://www.mendeley.com/research/targeted-high-throughput-sequencing-hereditary-ataxia-spastic-paraplegia", "reader_count"=>18, "reader_count_by_academic_status"=>{"Unspecified"=>5, "Researcher"=>1, "Student > Ph. D. Student"=>4, "Student > Master"=>4, "Other"=>1, "Student > Bachelor"=>1, "Lecturer"=>1, "Professor"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>5, "Researcher"=>1, "Student > Ph. D. Student"=>4, "Student > Master"=>4, "Other"=>1, "Student > Bachelor"=>1, "Lecturer"=>1, "Professor"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>6, "Biochemistry, Genetics and Molecular Biology"=>4, "Medicine and Dentistry"=>3, "Agricultural and Biological Sciences"=>2, "Neuroscience"=>2, "Immunology and Microbiology"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>3}, "Neuroscience"=>{"Neuroscience"=>2}, "Immunology and Microbiology"=>{"Immunology and Microbiology"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>2}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>4}, "Unspecified"=>{"Unspecified"=>6}}, "group_count"=>2}

Scopus | Further Information

{"@_fa"=>"true", "link"=>[{"@_fa"=>"true", "@ref"=>"self", "@href"=>"https://api.elsevier.com/content/abstract/scopus_id/85016513703"}, {"@_fa"=>"true", "@ref"=>"author-affiliation", "@href"=>"https://api.elsevier.com/content/abstract/scopus_id/85016513703?field=author,affiliation"}, {"@_fa"=>"true", "@ref"=>"scopus", "@href"=>"https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85016513703&origin=inward"}, {"@_fa"=>"true", "@ref"=>"scopus-citedby", "@href"=>"https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85016513703&origin=inward"}], "prism:url"=>"https://api.elsevier.com/content/abstract/scopus_id/85016513703", "dc:identifier"=>"SCOPUS_ID:85016513703", "eid"=>"2-s2.0-85016513703", "dc:title"=>"Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia", "dc:creator"=>"Iqbal Z.", "prism:publicationName"=>"PLoS ONE", "prism:eIssn"=>"19326203", "prism:volume"=>"12", "prism:issueIdentifier"=>"3", "prism:pageRange"=>nil, "prism:coverDate"=>"2017-03-01", "prism:coverDisplayDate"=>"March 2017", "prism:doi"=>"10.1371/journal.pone.0174667", "citedby-count"=>"24", "affiliation"=>[{"@_fa"=>"true", "affilname"=>"Oslo University Hospital", "affiliation-city"=>"Oslo", "affiliation-country"=>"Norway"}], "pubmed-id"=>"28362824", "prism:aggregationType"=>"Journal", "subtype"=>"ar", "subtypeDescription"=>"Article", "article-number"=>"0174667", "source-id"=>"10600153309", "openaccess"=>"1", "openaccessFlag"=>true}

Counter

  • {"month"=>"3", "year"=>"2017", "pdf_views"=>"6", "xml_views"=>"0", "html_views"=>"23"}
  • {"month"=>"4", "year"=>"2017", "pdf_views"=>"66", "xml_views"=>"5", "html_views"=>"220"}
  • {"month"=>"5", "year"=>"2017", "pdf_views"=>"15", "xml_views"=>"1", "html_views"=>"82"}
  • {"month"=>"6", "year"=>"2017", "pdf_views"=>"18", "xml_views"=>"0", "html_views"=>"62"}
  • {"month"=>"7", "year"=>"2017", "pdf_views"=>"25", "xml_views"=>"4", "html_views"=>"42"}
  • {"month"=>"8", "year"=>"2017", "pdf_views"=>"23", "xml_views"=>"6", "html_views"=>"46"}
  • {"month"=>"9", "year"=>"2017", "pdf_views"=>"12", "xml_views"=>"3", "html_views"=>"43"}
  • {"month"=>"10", "year"=>"2017", "pdf_views"=>"14", "xml_views"=>"8", "html_views"=>"84"}
  • {"month"=>"11", "year"=>"2017", "pdf_views"=>"20", "xml_views"=>"0", "html_views"=>"148"}
  • {"month"=>"12", "year"=>"2017", "pdf_views"=>"18", "xml_views"=>"1", "html_views"=>"294"}
  • {"month"=>"1", "year"=>"2018", "pdf_views"=>"25", "xml_views"=>"0", "html_views"=>"56"}
  • {"month"=>"2", "year"=>"2018", "pdf_views"=>"7", "xml_views"=>"1", "html_views"=>"31"}
  • {"month"=>"3", "year"=>"2018", "pdf_views"=>"13", "xml_views"=>"3", "html_views"=>"25"}
  • {"month"=>"4", "year"=>"2018", "pdf_views"=>"11", "xml_views"=>"1", "html_views"=>"24"}
  • {"month"=>"5", "year"=>"2018", "pdf_views"=>"5", "xml_views"=>"0", "html_views"=>"18"}
  • {"month"=>"6", "year"=>"2018", "pdf_views"=>"24", "xml_views"=>"3", "html_views"=>"31"}
  • {"month"=>"7", "year"=>"2018", "pdf_views"=>"10", "xml_views"=>"5", "html_views"=>"36"}
  • {"month"=>"8", "year"=>"2018", "pdf_views"=>"7", "xml_views"=>"1", "html_views"=>"36"}
  • {"month"=>"9", "year"=>"2018", "pdf_views"=>"16", "xml_views"=>"0", "html_views"=>"31"}
  • {"month"=>"10", "year"=>"2018", "pdf_views"=>"10", "xml_views"=>"1", "html_views"=>"32"}
  • {"month"=>"11", "year"=>"2018", "pdf_views"=>"3", "xml_views"=>"0", "html_views"=>"16"}
  • {"month"=>"12", "year"=>"2018", "pdf_views"=>"6", "xml_views"=>"0", "html_views"=>"18"}
  • {"month"=>"1", "year"=>"2019", "pdf_views"=>"11", "xml_views"=>"0", "html_views"=>"22"}
  • {"month"=>"2", "year"=>"2019", "pdf_views"=>"12", "xml_views"=>"2", "html_views"=>"19"}
  • {"month"=>"3", "year"=>"2019", "pdf_views"=>"10", "xml_views"=>"3", "html_views"=>"29"}
  • {"month"=>"4", "year"=>"2019", "pdf_views"=>"19", "xml_views"=>"0", "html_views"=>"26"}
  • {"month"=>"5", "year"=>"2019", "pdf_views"=>"19", "xml_views"=>"0", "html_views"=>"21"}
  • {"month"=>"6", "year"=>"2019", "pdf_views"=>"10", "xml_views"=>"0", "html_views"=>"29"}
  • {"month"=>"7", "year"=>"2019", "pdf_views"=>"9", "xml_views"=>"1", "html_views"=>"25"}
  • {"month"=>"8", "year"=>"2019", "pdf_views"=>"19", "xml_views"=>"0", "html_views"=>"37"}
  • {"month"=>"9", "year"=>"2019", "pdf_views"=>"9", "xml_views"=>"0", "html_views"=>"17"}
  • {"month"=>"10", "year"=>"2019", "pdf_views"=>"12", "xml_views"=>"0", "html_views"=>"23"}
  • {"month"=>"11", "year"=>"2019", "pdf_views"=>"10", "xml_views"=>"1", "html_views"=>"17"}
  • {"month"=>"12", "year"=>"2019", "pdf_views"=>"12", "xml_views"=>"0", "html_views"=>"19"}
  • {"month"=>"1", "year"=>"2020", "pdf_views"=>"14", "xml_views"=>"0", "html_views"=>"28"}
  • {"month"=>"2", "year"=>"2020", "pdf_views"=>"13", "xml_views"=>"1", "html_views"=>"14"}
  • {"month"=>"3", "year"=>"2020", "pdf_views"=>"16", "xml_views"=>"0", "html_views"=>"9"}
  • {"month"=>"4", "year"=>"2020", "pdf_views"=>"37", "xml_views"=>"0", "html_views"=>"15"}
  • {"month"=>"5", "year"=>"2020", "pdf_views"=>"42", "xml_views"=>"1", "html_views"=>"13"}
  • {"month"=>"6", "year"=>"2020", "pdf_views"=>"20", "xml_views"=>"1", "html_views"=>"22"}
  • {"month"=>"7", "year"=>"2020", "pdf_views"=>"12", "xml_views"=>"0", "html_views"=>"16"}
  • {"month"=>"8", "year"=>"2020", "pdf_views"=>"15", "xml_views"=>"1", "html_views"=>"13"}
  • {"month"=>"9", "year"=>"2020", "pdf_views"=>"14", "xml_views"=>"0", "html_views"=>"5"}
  • {"month"=>"10", "year"=>"2020", "pdf_views"=>"17", "xml_views"=>"2", "html_views"=>"10"}

PMC Usage Stats

  • {"unique-ip"=>"28", "full-text"=>"32", "pdf"=>"14", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"8", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2017", "month"=>"4"}
  • {"unique-ip"=>"43", "full-text"=>"52", "pdf"=>"16", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"5", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2017", "month"=>"5"}
  • {"unique-ip"=>"31", "full-text"=>"32", "pdf"=>"13", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"9", "supp-data"=>"5", "cited-by"=>"0", "year"=>"2017", "month"=>"6"}
  • {"unique-ip"=>"34", "full-text"=>"32", "pdf"=>"16", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"7", "supp-data"=>"7", "cited-by"=>"0", "year"=>"2017", "month"=>"7"}
  • {"unique-ip"=>"25", "full-text"=>"25", "pdf"=>"11", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"11", "supp-data"=>"4", "cited-by"=>"0", "year"=>"2017", "month"=>"8"}
  • {"unique-ip"=>"48", "full-text"=>"47", "pdf"=>"26", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"9", "supp-data"=>"5", "cited-by"=>"0", "year"=>"2017", "month"=>"9"}
  • {"unique-ip"=>"59", "full-text"=>"48", "pdf"=>"23", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"7", "supp-data"=>"7", "cited-by"=>"0", "year"=>"2017", "month"=>"10"}
  • {"unique-ip"=>"38", "full-text"=>"41", "pdf"=>"21", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"14", "supp-data"=>"16", "cited-by"=>"0", "year"=>"2017", "month"=>"11"}
  • {"unique-ip"=>"30", "full-text"=>"34", "pdf"=>"16", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"7", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2017", "month"=>"12"}
  • {"unique-ip"=>"30", "full-text"=>"31", "pdf"=>"17", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2018", "month"=>"1"}
  • {"unique-ip"=>"2", "full-text"=>"2", "pdf"=>"0", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2018", "month"=>"2"}
  • {"unique-ip"=>"30", "full-text"=>"32", "pdf"=>"15", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"8", "cited-by"=>"0", "year"=>"2018", "month"=>"3"}
  • {"unique-ip"=>"35", "full-text"=>"40", "pdf"=>"21", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"7", "cited-by"=>"0", "year"=>"2019", "month"=>"1"}
  • {"unique-ip"=>"21", "full-text"=>"21", "pdf"=>"9", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"7", "cited-by"=>"0", "year"=>"2018", "month"=>"11"}
  • {"unique-ip"=>"30", "full-text"=>"38", "pdf"=>"17", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"6", "cited-by"=>"0", "year"=>"2018", "month"=>"9"}
  • {"unique-ip"=>"26", "full-text"=>"24", "pdf"=>"10", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"4", "cited-by"=>"0", "year"=>"2018", "month"=>"12"}
  • {"unique-ip"=>"26", "full-text"=>"27", "pdf"=>"10", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"3", "cited-by"=>"0", "year"=>"2018", "month"=>"4"}
  • {"unique-ip"=>"27", "full-text"=>"30", "pdf"=>"8", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"6", "supp-data"=>"6", "cited-by"=>"0", "year"=>"2018", "month"=>"5"}
  • {"unique-ip"=>"30", "full-text"=>"29", "pdf"=>"13", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"6", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2018", "month"=>"6"}
  • {"unique-ip"=>"40", "full-text"=>"38", "pdf"=>"16", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"3", "supp-data"=>"11", "cited-by"=>"1", "year"=>"2018", "month"=>"7"}
  • {"unique-ip"=>"33", "full-text"=>"38", "pdf"=>"16", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"4", "cited-by"=>"0", "year"=>"2018", "month"=>"8"}
  • {"unique-ip"=>"32", "full-text"=>"36", "pdf"=>"13", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2018", "month"=>"10"}
  • {"unique-ip"=>"37", "full-text"=>"39", "pdf"=>"14", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"3", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2019", "month"=>"2"}
  • {"unique-ip"=>"39", "full-text"=>"45", "pdf"=>"15", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"3", "cited-by"=>"0", "year"=>"2019", "month"=>"3"}
  • {"unique-ip"=>"34", "full-text"=>"42", "pdf"=>"11", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"5", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2019", "month"=>"4"}
  • {"unique-ip"=>"35", "full-text"=>"30", "pdf"=>"11", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"4", "supp-data"=>"4", "cited-by"=>"0", "year"=>"2019", "month"=>"5"}
  • {"unique-ip"=>"28", "full-text"=>"40", "pdf"=>"9", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2019", "month"=>"8"}
  • {"unique-ip"=>"19", "full-text"=>"18", "pdf"=>"9", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"4", "cited-by"=>"0", "year"=>"2019", "month"=>"9"}
  • {"unique-ip"=>"23", "full-text"=>"26", "pdf"=>"7", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2019", "month"=>"10"}
  • {"unique-ip"=>"15", "full-text"=>"23", "pdf"=>"6", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"6", "cited-by"=>"0", "year"=>"2019", "month"=>"12"}
  • {"unique-ip"=>"22", "full-text"=>"26", "pdf"=>"5", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"2"}
  • {"unique-ip"=>"23", "full-text"=>"24", "pdf"=>"11", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"14", "cited-by"=>"0", "year"=>"2020", "month"=>"3"}
  • {"unique-ip"=>"23", "full-text"=>"12", "pdf"=>"4", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"3", "supp-data"=>"5", "cited-by"=>"0", "year"=>"2020", "month"=>"4"}
  • {"unique-ip"=>"23", "full-text"=>"23", "pdf"=>"14", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"5", "cited-by"=>"0", "year"=>"2020", "month"=>"5"}
  • {"unique-ip"=>"12", "full-text"=>"11", "pdf"=>"6", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"6"}
  • {"unique-ip"=>"15", "full-text"=>"20", "pdf"=>"4", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2020", "month"=>"7"}
  • {"unique-ip"=>"14", "full-text"=>"13", "pdf"=>"5", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"5", "cited-by"=>"0", "year"=>"2020", "month"=>"8"}
  • {"unique-ip"=>"13", "full-text"=>"12", "pdf"=>"3", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2020", "month"=>"9"}
Loading … Spinner
There are currently no alerts