Novel challenges in spinal muscular atrophy: How to screen and whom to treat?
In recent years, disease-modifying and life-prolonging therapies for spinal muscular atrophy (SMA) have been developed. However, patients are currently diagnosed with significant delay and therapies are often administered in advanced stages of motor neuron degeneration, showing limited effects. Meth...
Gespeichert in:
| Hauptverfasser: | , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2019
|
| In: |
Annals of Clinical and Translational Neurology
Year: 2018, Jahrgang: 6, Heft: 1, Pages: 197-205 |
| ISSN: | 2328-9503 |
| DOI: | 10.1002/acn3.689 |
| Online-Zugang: | Verlag, Volltext: https://doi.org/10.1002/acn3.689 Verlag, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/acn3.689 
|
| Verfasserangaben: | Afshin Saffari, Stefan Kölker, Georg F. Hoffmann, Markus Weiler & Andreas Ziegler |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1665350067 | ||
| 003 | DE-627 | ||
| 005 | 20230427000818.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 190514r20192018xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1002/acn3.689 |2 doi | |
| 035 | |a (DE-627)1665350067 | ||
| 035 | |a (DE-599)KXP1665350067 | ||
| 035 | |a (OCoLC)1341213128 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Saffari, Afshin |d 1988- |e VerfasserIn |0 (DE-588)1076753302 |0 (DE-627)835291251 |0 (DE-576)445631406 |4 aut | |
| 245 | 1 | 0 | |a Novel challenges in spinal muscular atrophy |b How to screen and whom to treat? |c Afshin Saffari, Stefan Kölker, Georg F. Hoffmann, Markus Weiler & Andreas Ziegler |
| 264 | 1 | |c 2019 | |
| 300 | |a 9 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a First published: 13 November 2018 | ||
| 500 | |a Gesehen am 14.05.2019 | ||
| 520 | |a In recent years, disease-modifying and life-prolonging therapies for spinal muscular atrophy (SMA) have been developed. However, patients are currently diagnosed with significant delay and therapies are often administered in advanced stages of motor neuron degeneration, showing limited effects. Methods to identify children in presymptomatic stages are currently evaluated in newborn screening programs. Yet, not all children develop symptoms shortly after birth raising the question whom to treat and when to initiate therapy. Finally, monitoring disease progression becomes essential to individualize management. Here, we review the literature on screening approaches, strategies to predict disease severity, and biomarkers to monitor therapy. | ||
| 534 | |c 2018 | ||
| 700 | 1 | |a Kölker, Stefan |e VerfasserIn |0 (DE-588)1022937758 |0 (DE-627)717335771 |0 (DE-576)366197568 |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 Weiler, Markus |d 1972- |e VerfasserIn |0 (DE-588)123920256 |0 (DE-627)706474236 |0 (DE-576)293943079 |4 aut | |
| 700 | 1 | |a Ziegler, Andreas |d 1979- |e VerfasserIn |0 (DE-588)134123530 |0 (DE-627)560894201 |0 (DE-576)278444253 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Annals of Clinical and Translational Neurology |d Chichester [u.a.] : Wiley, 2013 |g 6(2019), 1, Seite 197-205 |h Online-Ressource |w (DE-627)77139649X |w (DE-600)2740696-9 |w (DE-576)396696678 |x 2328-9503 |7 nnas |a Novel challenges in spinal muscular atrophy How to screen and whom to treat? |
| 773 | 1 | 8 | |g volume:6 |g year:2019 |g number:1 |g pages:197-205 |g extent:9 |a Novel challenges in spinal muscular atrophy How to screen and whom to treat? |
| 856 | 4 | 0 | |u https://doi.org/10.1002/acn3.689 |x Verlag |x Resolving-System |3 Volltext |
| 856 | 4 | 0 | |u https://onlinelibrary.wiley.com/doi/abs/10.1002/acn3.689 |x Verlag |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20190514 | ||
| 993 | |a Article | ||
| 994 | |a 2019 | ||
| 998 | |g 134123530 |a Ziegler, Andreas |m 134123530:Ziegler, Andreas |d 910000 |d 910500 |e 910000PZ134123530 |e 910500PZ134123530 |k 0/910000/ |k 1/910000/910500/ |p 5 |y j | ||
| 998 | |g 123920256 |a Weiler, Markus |m 123920256:Weiler, Markus |d 910000 |d 911100 |e 910000PW123920256 |e 911100PW123920256 |k 0/910000/ |k 1/910000/911100/ |p 4 | ||
| 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 3 | ||
| 998 | |g 1022937758 |a Kölker, Stefan |m 1022937758:Kölker, Stefan |d 910000 |d 910500 |e 910000PK1022937758 |e 910500PK1022937758 |k 0/910000/ |k 1/910000/910500/ |p 2 | ||
| 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 1 |x j | ||
| 999 | |a KXP-PPN1665350067 |e 3475689626 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"recId":"1665350067","name":{"displayForm":["Afshin Saffari, Stefan Kölker, Georg F. Hoffmann, Markus Weiler & Andreas Ziegler"]},"origin":[{"dateIssuedDisp":"2019","dateIssuedKey":"2019"}],"id":{"doi":["10.1002/acn3.689"],"eki":["1665350067"]},"type":{"media":"Online-Ressource","bibl":"article-journal"},"physDesc":[{"extent":"9 S."}],"language":["eng"],"title":[{"title_sort":"Novel challenges in spinal muscular atrophy","title":"Novel challenges in spinal muscular atrophy","subtitle":"How to screen and whom to treat?"}],"person":[{"role":"aut","given":"Afshin","family":"Saffari","display":"Saffari, Afshin"},{"family":"Kölker","role":"aut","given":"Stefan","display":"Kölker, Stefan"},{"display":"Hoffmann, Georg F.","family":"Hoffmann","given":"Georg F.","role":"aut"},{"display":"Weiler, Markus","family":"Weiler","role":"aut","given":"Markus"},{"family":"Ziegler","given":"Andreas","role":"aut","display":"Ziegler, Andreas"}],"relHost":[{"recId":"77139649X","disp":"Novel challenges in spinal muscular atrophy How to screen and whom to treat?Annals of Clinical and Translational Neurology","id":{"eki":["77139649X"],"zdb":["2740696-9"],"issn":["2328-9503"]},"origin":[{"dateIssuedDisp":"2013-","dateIssuedKey":"2013","publisher":"Wiley","publisherPlace":"Chichester [u.a.]"}],"part":{"year":"2019","issue":"1","extent":"9","text":"6(2019), 1, Seite 197-205","pages":"197-205","volume":"6"},"type":{"bibl":"periodical","media":"Online-Ressource"},"note":["Gesehen am 15.05.20"],"language":["eng"],"pubHistory":["1.2013 -"],"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title":"Annals of Clinical and Translational Neurology","title_sort":"Annals of Clinical and Translational Neurology"}]}],"note":["First published: 13 November 2018","Gesehen am 14.05.2019"]} | ||
| SRT | |a SAFFARIAFSNOVELCHALL2019 | ||