Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Saved in:
| Title: | Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. |
|---|---|
| Authors: | Luo X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, United States of America., Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Zuo Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Hall M; University of Oklahoma Health Sciences Center, Oklahoma City, OK, United States of America., Wierenga KJ; University of Oklahoma Health Sciences Center, Oklahoma City, OK, United States of America., Pastore MT; Nationwide Children's Hospital & The Ohio State University, Columbus, OH, United States of America., Bartholomew D; Nationwide Children's Hospital & The Ohio State University, Columbus, OH, United States of America., Delgado MR; Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center andTexas Scottish Rite Hospital, Dallas, TX, United States of America., Rotenberg J; Houston Specialty Clinic, Houston, TX, United States of America., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America.; Texas Children's Hospital, Houston, TX, United States of America., Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Lotze T; Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America.; Texas Children's Hospital, Houston, TX, United States of America., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, United States of America.; Howard Hughes Medical Institute, Houston TX, United States of America., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, United States of America. |
| Corporate Authors: | Members of the UDN |
| Source: | PLoS genetics [PLoS Genet] 2017 Jul 24; Vol. 13 (7), pp. e1006905. Date of Electronic Publication: 2017 Jul 24 (Print Publication: 2017). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 28742085 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Luo+X%22">Luo X</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Yamamoto+S%22">Yamamoto S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Harel+T%22">Harel T</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Zuo+Z%22">Zuo Z</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Hall+M%22">Hall M</searchLink>; University of Oklahoma Health Sciences Center, Oklahoma City, OK, United States of America.<br /><searchLink fieldCode="AU" term="%22Wierenga+KJ%22">Wierenga KJ</searchLink>; University of Oklahoma Health Sciences Center, Oklahoma City, OK, United States of America.<br /><searchLink fieldCode="AU" term="%22Pastore+MT%22">Pastore MT</searchLink>; Nationwide Children's Hospital & The Ohio State University, Columbus, OH, United States of America.<br /><searchLink fieldCode="AU" term="%22Bartholomew+D%22">Bartholomew D</searchLink>; Nationwide Children's Hospital & The Ohio State University, Columbus, OH, United States of America.<br /><searchLink fieldCode="AU" term="%22Delgado+MR%22">Delgado MR</searchLink>; Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center andTexas Scottish Rite Hospital, Dallas, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Rotenberg+J%22">Rotenberg J</searchLink>; Houston Specialty Clinic, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Lewis+RA%22">Lewis RA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America.; Texas Children's Hospital, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Emrick+L%22">Emrick L</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Bacino+CA%22">Bacino CA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Eldomery+MK%22">Eldomery MK</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Coban+Akdemir+Z%22">Coban Akdemir Z</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Xia+F%22">Xia F</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Yang+Y%22">Yang Y</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Lalani+SR%22">Lalani SR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Lotze+T%22">Lotze T</searchLink>; Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Lupski+JR%22">Lupski JR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States of America.; Texas Children's Hospital, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Lee+B%22">Lee B</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Bellen+HJ%22">Bellen HJ</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, United States of America.; Howard Hughes Medical Institute, Houston TX, United States of America.<br /><searchLink fieldCode="AU" term="%22Wangler+MF%22">Wangler MF</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, United States of America. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22Members+of+the+UDN%22">Members of the UDN</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101239074%22">PLoS genetics</searchLink> [PLoS Genet] 2017 Jul 24; Vol. 13 (7), pp. e1006905. <i>Date of Electronic Publication: </i>2017 Jul 24 (<i>Print Publication: </i>2017). – 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="%22Public+Library+of+Science%22">Public Library of Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101239074 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1553-7404 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215537390%22">15537390 </searchLink><i>NLM ISO Abbreviation: </i>PLoS Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=28742085 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1371/journal.pgen.1006905 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e1006905 Titles: – TitleFull: Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Luo X – PersonEntity: Name: NameFull: Rosenfeld JA – PersonEntity: Name: NameFull: Yamamoto S – PersonEntity: Name: NameFull: Harel T – PersonEntity: Name: NameFull: Zuo Z – PersonEntity: Name: NameFull: Hall M – PersonEntity: Name: NameFull: Wierenga KJ – PersonEntity: Name: NameFull: Pastore MT – PersonEntity: Name: NameFull: Bartholomew D – PersonEntity: Name: NameFull: Delgado MR – PersonEntity: Name: NameFull: Rotenberg J – PersonEntity: Name: NameFull: Lewis RA – PersonEntity: Name: NameFull: Emrick L – PersonEntity: Name: NameFull: Bacino CA – PersonEntity: Name: NameFull: Eldomery MK – PersonEntity: Name: NameFull: Coban Akdemir Z – PersonEntity: Name: NameFull: Xia F – PersonEntity: Name: NameFull: Yang Y – PersonEntity: Name: NameFull: Lalani SR – PersonEntity: Name: NameFull: Lotze T – PersonEntity: Name: NameFull: Lupski JR – PersonEntity: Name: NameFull: Lee B – PersonEntity: Name: NameFull: Bellen HJ – PersonEntity: Name: NameFull: Wangler MF IsPartOfRelationships: – BibEntity: Dates: – D: 24 M: 07 Text: 2017 Jul 24 Type: published Y: 2017 Identifiers: – Type: issn-electronic Value: 1553-7404 Numbering: – Type: volume Value: 13 – Type: issue Value: 7 Titles: – TitleFull: PLoS genetics Type: main |
| ResultId | 1 |
