Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
Mutations in autophagy genes cause childhood-onset multisystem diseases with predominant nervous system involvement and provide a ‘genetic window’ into autophag
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
2016
|
| In: |
Brain
Year: 2015, Volume: 139, Issue: 2, Pages: 317-337 |
| ISSN: | 1460-2156 |
| DOI: | 10.1093/brain/awv371 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/brain/awv371 Verlag, lizenzpflichtig, Volltext: https://academic.oup.com/brain/article/139/2/317/1754062 |
| Author Notes: | Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Jenny Lu, Susan Byrne, Georg F. Hoffmann, Heinz Jungbluth and Mustafa Sahin |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1697004806 | ||
| 003 | DE-627 | ||
| 005 | 20230427121953.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 200504r20162015xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1093/brain/awv371 |2 doi | |
| 035 | |a (DE-627)1697004806 | ||
| 035 | |a (DE-599)KXP1697004806 | ||
| 035 | |a (OCoLC)1341318004 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Ebrahimi-Fakhari, Darius |d 1985- |e VerfasserIn |0 (DE-588)1037282000 |0 (DE-627)755417909 |0 (DE-576)391298143 |4 aut | |
| 245 | 1 | 0 | |a Congenital disorders of autophagy |b an emerging novel class of inborn errors of neuro-metabolism |c Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Jenny Lu, Susan Byrne, Georg F. Hoffmann, Heinz Jungbluth and Mustafa Sahin |
| 264 | 1 | |c 2016 | |
| 300 | |a 21 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Advance access publication December 29, 2015 | ||
| 500 | |a Gesehen am 04.05.2020 | ||
| 520 | |a Mutations in autophagy genes cause childhood-onset multisystem diseases with predominant nervous system involvement and provide a ‘genetic window’ into autophag | ||
| 534 | |c 2015 | ||
| 700 | 1 | |a Saffari, Afshin |d 1988- |e VerfasserIn |0 (DE-588)1076753302 |0 (DE-627)835291251 |0 (DE-576)445631406 |4 aut | |
| 700 | 1 | |a Wahlster, Lara |d 1987- |e VerfasserIn |0 (DE-588)1038387698 |0 (DE-627)757231217 |0 (DE-576)392380129 |4 aut | |
| 700 | 1 | |a Lu, Jenny |e VerfasserIn |4 aut | |
| 700 | 1 | |a Byrne, Susan |e VerfasserIn |4 aut | |
| 700 | 1 | |a Hoffmann, Georg F. |d 1957- |e VerfasserIn |0 (DE-588)115652868 |0 (DE-627)077386116 |0 (DE-576)261230042 |4 aut | |
| 700 | 1 | |a Jungbluth, Heinz |e VerfasserIn |4 aut | |
| 700 | 1 | |a Sahin, Mustafa |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Brain |d Oxford : Oxford Univ. Press, 1878 |g 139(2016), 2, Seite 317-337 |h Online-Ressource |w (DE-627)269242562 |w (DE-600)1474117-9 |w (DE-576)079718728 |x 1460-2156 |7 nnas |a Congenital disorders of autophagy an emerging novel class of inborn errors of neuro-metabolism |
| 773 | 1 | 8 | |g volume:139 |g year:2016 |g number:2 |g pages:317-337 |g extent:21 |a Congenital disorders of autophagy an emerging novel class of inborn errors of neuro-metabolism |
| 856 | 4 | 0 | |u https://doi.org/10.1093/brain/awv371 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://academic.oup.com/brain/article/139/2/317/1754062 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20200504 | ||
| 993 | |a Article | ||
| 994 | |a 2016 | ||
| 998 | |g 115652868 |a Hoffmann, Georg F. |m 115652868:Hoffmann, Georg F. |d 910000 |d 910500 |e 910000PH115652868 |e 910500PH115652868 |k 0/910000/ |k 1/910000/910500/ |p 6 | ||
| 998 | |g 1038387698 |a Wahlster, Lara |m 1038387698:Wahlster, Lara |d 910000 |d 910500 |e 910000PW1038387698 |e 910500PW1038387698 |k 0/910000/ |k 1/910000/910500/ |p 3 | ||
| 998 | |g 1076753302 |a Saffari, Afshin |m 1076753302:Saffari, Afshin |d 910000 |d 910500 |e 910000PS1076753302 |e 910500PS1076753302 |k 0/910000/ |k 1/910000/910500/ |p 2 | ||
| 998 | |g 1037282000 |a Ebrahimi-Fakhari, Darius |m 1037282000:Ebrahimi-Fakhari, Darius |d 910000 |d 910500 |e 910000PE1037282000 |e 910500PE1037282000 |k 0/910000/ |k 1/910000/910500/ |p 1 |x j | ||
| 999 | |a KXP-PPN1697004806 |e 3656728925 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"relHost":[{"note":["Gesehen am 01.12.2020"],"type":{"media":"Online-Ressource","bibl":"periodical"},"pubHistory":["1.1878/79 -"],"physDesc":[{"extent":"Online-Ressource"}],"language":["eng"],"title":[{"title_sort":"Brain","title":"Brain","subtitle":"a journal of neurology"}],"recId":"269242562","disp":"Congenital disorders of autophagy an emerging novel class of inborn errors of neuro-metabolismBrain","origin":[{"publisherPlace":"Oxford","publisher":"Oxford Univ. Press","dateIssuedKey":"1878","dateIssuedDisp":"1878-"}],"id":{"issn":["1460-2156"],"zdb":["1474117-9"],"eki":["269242562"]},"part":{"year":"2016","issue":"2","pages":"317-337","volume":"139","text":"139(2016), 2, Seite 317-337","extent":"21"}}],"note":["Advance access publication December 29, 2015","Gesehen am 04.05.2020"],"id":{"doi":["10.1093/brain/awv371"],"eki":["1697004806"]},"origin":[{"dateIssuedKey":"2016","dateIssuedDisp":"2016"}],"name":{"displayForm":["Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Jenny Lu, Susan Byrne, Georg F. Hoffmann, Heinz Jungbluth and Mustafa Sahin"]},"recId":"1697004806","person":[{"display":"Ebrahimi-Fakhari, Darius","family":"Ebrahimi-Fakhari","role":"aut","given":"Darius"},{"given":"Afshin","role":"aut","family":"Saffari","display":"Saffari, Afshin"},{"family":"Wahlster","given":"Lara","role":"aut","display":"Wahlster, Lara"},{"display":"Lu, Jenny","family":"Lu","role":"aut","given":"Jenny"},{"family":"Byrne","given":"Susan","role":"aut","display":"Byrne, Susan"},{"family":"Hoffmann","given":"Georg F.","role":"aut","display":"Hoffmann, Georg F."},{"display":"Jungbluth, Heinz","given":"Heinz","role":"aut","family":"Jungbluth"},{"family":"Sahin","given":"Mustafa","role":"aut","display":"Sahin, Mustafa"}],"title":[{"subtitle":"an emerging novel class of inborn errors of neuro-metabolism","title":"Congenital disorders of autophagy","title_sort":"Congenital disorders of autophagy"}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"language":["eng"],"physDesc":[{"extent":"21 S."}]} | ||
| SRT | |a EBRAHIMIFACONGENITAL2016 | ||