guest ::
| Home > Publications database > Autosomal Recessive Cerebellar Ataxia 3 Due to Homozygote c.132dupA Mutation Within the ANO10 Gene. > print |
| Home > Publications database > Autosomal Recessive Cerebellar Ataxia 3 Due to Homozygote c.132dupA Mutation Within the ANO10 Gene. > print |
| 001 | 188411 | ||
| 005 | 20210129215207.0 | ||
| 024 | 7 | _ | |a 10.1001/jamaneurol.2014.3918 |2 doi |
| 024 | 7 | _ | |a pmid:25664549 |2 pmid |
| 024 | 7 | _ | |a 0003-9942 |2 ISSN |
| 024 | 7 | _ | |a 0375-8540 |2 ISSN |
| 024 | 7 | _ | |a 1538-3687 |2 ISSN |
| 024 | 7 | _ | |a 2168-6149 |2 ISSN |
| 024 | 7 | _ | |a 2168-6157 |2 ISSN |
| 024 | 7 | _ | |a WOS:000349619200022 |2 WOS |
| 024 | 7 | _ | |a altmetric:3642408 |2 altmetric |
| 037 | _ | _ | |a FZJ-2015-01809 |
| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Minnerop, Martina |0 P:(DE-Juel1)131622 |b 0 |e Corresponding Author |u fzj |
| 245 | _ | _ | |a Autosomal Recessive Cerebellar Ataxia 3 Due to Homozygote c.132dupA Mutation Within the ANO10 Gene. |
| 260 | _ | _ | |a Chicago, Ill. |c 2015 |b American Medical Association |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1426256823_22920 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a article |2 DRIVER |
| 520 | _ | _ | |a With great interest we read the article by Renaud et al1 reporting a case series of 9 patients with autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations. The authors discussed the previously reported c.132dupA mutation with a heterozygote carrier frequency of 1/184 and postulated that the homozygote state of this mutation would either have a more severe phenotype or not be viable at all. |
| 536 | _ | _ | |a 571 - Connectivity and Activity (POF3-571) |0 G:(DE-HGF)POF3-571 |c POF3-571 |x 0 |f POF III |
| 588 | _ | _ | |a Dataset connected to CrossRef, juser.fz-juelich.de, PubMed, |
| 700 | 1 | _ | |a Bauer, Peter |0 P:(DE-HGF)0 |b 1 |
| 773 | _ | _ | |a 10.1001/jamaneurol.2014.3918 |g Vol. 72, no. 2, p. 238 - |0 PERI:(DE-600)2701924-X |n 2 |p 238 -239 |t JAMA neurology |v 72 |y 2015 |x 2168-6149 |
| 909 | C | O | |o oai:juser.fz-juelich.de:188411 |p VDB |
| 910 | 1 | _ | |a Forschungszentrum Jülich GmbH |0 I:(DE-588b)5008462-8 |k FZJ |b 0 |6 P:(DE-Juel1)131622 |
| 913 | 0 | _ | |a DE-HGF |b Gesundheit |l Funktion und Dysfunktion des Nervensystems |1 G:(DE-HGF)POF2-330 |0 G:(DE-HGF)POF2-333 |2 G:(DE-HGF)POF2-300 |v Pathophysiological Mechanisms of Neurological and Psychiatric Diseases |x 0 |
| 913 | 0 | _ | |a DE-HGF |b Key Technologies |l Decoding the Human Brain |1 G:(DE-HGF)POF2-89570 |0 G:(DE-HGF)POF2-89571 |2 G:(DE-HGF)POF3-890 |v Connectivity and Activity |x 1 |
| 913 | 1 | _ | |a DE-HGF |b Key Technologies |l Decoding the Human Brain |1 G:(DE-HGF)POF3-570 |0 G:(DE-HGF)POF3-571 |2 G:(DE-HGF)POF3-500 |v Connectivity and Activity |x 0 |4 G:(DE-HGF)POF |3 G:(DE-HGF)POF3 |
| 914 | 1 | _ | |y 2015 |
| 915 | _ | _ | |a JCR |0 StatID:(DE-HGF)0100 |2 StatID |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0110 |2 StatID |b Science Citation Index |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0111 |2 StatID |b Science Citation Index Expanded |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0150 |2 StatID |b Web of Science Core Collection |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0199 |2 StatID |b Thomson Reuters Master Journal List |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0200 |2 StatID |b SCOPUS |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0300 |2 StatID |b Medline |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0310 |2 StatID |b NCBI Molecular Biology Database |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1030 |2 StatID |b Current Contents - Life Sciences |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1050 |2 StatID |b BIOSIS Previews |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1110 |2 StatID |b Current Contents - Clinical Medicine |
| 915 | _ | _ | |a IF < 5 |0 StatID:(DE-HGF)9900 |2 StatID |
| 920 | _ | _ | |l yes |
| 920 | 1 | _ | |0 I:(DE-Juel1)INM-1-20090406 |k INM-1 |l Strukturelle und funktionelle Organisation des Gehirns |x 0 |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a I:(DE-Juel1)INM-1-20090406 |
| 980 | _ | _ | |a UNRESTRICTED |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
|---|