Gast ::
| Hauptseite > Publikationsdatenbank > VPS13D : One Family, Same Mutations, Two Phenotypes > print |
| 001 | 892509 | ||
| 005 | 20210930133534.0 | ||
| 024 | 7 | _ | |a 10.1002/mdc3.13232 |2 doi |
| 024 | 7 | _ | |a 2128/28691 |2 Handle |
| 024 | 7 | _ | |a altmetric:104828514 |2 altmetric |
| 024 | 7 | _ | |a pmid:34307758 |2 pmid |
| 024 | 7 | _ | |a WOS:000647076200001 |2 WOS |
| 037 | _ | _ | |a FZJ-2021-02118 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Petry-Schmelzer, Jan Niklas |0 P:(DE-HGF)0 |b 0 |e Corresponding author |
| 245 | _ | _ | |a VPS13D : One Family, Same Mutations, Two Phenotypes |
| 260 | _ | _ | |a New York, NY |c 2021 |b Wiley |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1632473974_765 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a Here, we report two siblings with compound heterozygous variants in VPS13D but a considerable divergent phenotype highlighting the difficulties of phenotype–genotype correlation in this rare disease.A 19-year-old patient presented to our outpatient department with a five-year history of progressive gait impairment. Motor and cognitive development during childhood was described as normal. The patient visited a regular school and was able to participate in physical education until the onset of symptoms. There were no known neurologic diseases in the Caucasian family, consisting of five sisters (II.1–3, II.5, and II.6), and the patient (II.4). However, one younger sister (II.6) of the patient suffered from developmental delay and intellectual disability without further physical impairment, and the oldest sister (II.1) living separate from the family was supposed to have “gait problems”. |
| 536 | _ | _ | |a 525 - Decoding Brain Organization and Dysfunction (POF4-525) |0 G:(DE-HGF)POF4-525 |c POF4-525 |f POF IV |x 0 |
| 588 | _ | _ | |a Dataset connected to DataCite |
| 700 | 1 | _ | |a Keller, Natalie |0 P:(DE-HGF)0 |b 1 |
| 700 | 1 | _ | |a Karakaya, Mert |0 P:(DE-HGF)0 |b 2 |
| 700 | 1 | _ | |a Wirth, Brunhilde |0 P:(DE-HGF)0 |b 3 |
| 700 | 1 | _ | |a Fink, Gereon R. |0 P:(DE-Juel1)131720 |b 4 |
| 700 | 1 | _ | |a Wunderlich, Gilbert |0 P:(DE-HGF)0 |b 5 |
| 773 | _ | _ | |a 10.1002/mdc3.13232 |g p. mdc3.13232 |0 PERI:(DE-600)2772809-2 |n 5 |p 803-806 |t Movement disorders clinical practice |v 8 |y 2021 |x 2330-1619 |
| 856 | 4 | _ | |u https://juser.fz-juelich.de/record/892509/files/mdc3.13232-1.pdf |
| 856 | 4 | _ | |y Published on 2021-04-27. Available in OpenAccess from 2022-04-27. |u https://juser.fz-juelich.de/record/892509/files/Petry-Schmelzer_Movement%20Disord_One%20familiy%2C%20same...post%20print.pdf |
| 909 | C | O | |o oai:juser.fz-juelich.de:892509 |p openaire |p open_access |p VDB |p driver |p dnbdelivery |
| 910 | 1 | _ | |a Forschungszentrum Jülich |0 I:(DE-588b)5008462-8 |k FZJ |b 4 |6 P:(DE-Juel1)131720 |
| 913 | 1 | _ | |a DE-HGF |b Key Technologies |l Natural, Artificial and Cognitive Information Processing |1 G:(DE-HGF)POF4-520 |0 G:(DE-HGF)POF4-525 |3 G:(DE-HGF)POF4 |2 G:(DE-HGF)POF4-500 |4 G:(DE-HGF)POF |v Decoding Brain Organization and Dysfunction |x 0 |
| 913 | 0 | _ | |a DE-HGF |b Key Technologies |l Decoding the Human Brain |1 G:(DE-HGF)POF3-570 |0 G:(DE-HGF)POF3-572 |3 G:(DE-HGF)POF3 |2 G:(DE-HGF)POF3-500 |4 G:(DE-HGF)POF |v (Dys-)function and Plasticity |x 0 |
| 914 | 1 | _ | |y 2021 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0200 |2 StatID |b SCOPUS |d 2020-08-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0600 |2 StatID |b Ebsco Academic Search |d 2020-08-21 |
| 915 | _ | _ | |a Embargoed OpenAccess |0 StatID:(DE-HGF)0530 |2 StatID |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0112 |2 StatID |b Emerging Sources Citation Index |d 2020-08-21 |
| 915 | _ | _ | |a DEAL Wiley |0 StatID:(DE-HGF)3001 |2 StatID |d 2020-08-21 |w ger |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0150 |2 StatID |b Web of Science Core Collection |d 2020-08-21 |
| 915 | _ | _ | |a Peer Review |0 StatID:(DE-HGF)0030 |2 StatID |b ASC |d 2020-08-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0300 |2 StatID |b Medline |d 2020-08-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0320 |2 StatID |b PubMed Central |d 2020-08-21 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0199 |2 StatID |b Clarivate Analytics Master Journal List |d 2020-08-21 |
| 920 | _ | _ | |l yes |
| 920 | 1 | _ | |0 I:(DE-Juel1)INM-3-20090406 |k INM-3 |l Kognitive Neurowissenschaften |x 0 |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a UNRESTRICTED |
| 980 | _ | _ | |a I:(DE-Juel1)INM-3-20090406 |
| 980 | 1 | _ | |a FullTexts |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
|---|