Buchumschlag

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies

TUBA1A and TUBB2B tubulinopathies are rare neurodevelopmental disorders characterized by cortical and extracortical malformations and heterogenic phenotypes. There is a need for quantitative clinical endpoints that will be beneficial for future diagnostic and therapeutic trials.

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Schröter, Julian (VerfasserIn) , Driedger, Jan Henje (VerfasserIn) , Garbade, Sven (VerfasserIn) , Hoffmann, Georg F. (VerfasserIn) , Kölker, Stefan (VerfasserIn) , Ries, Markus (VerfasserIn) , Syrbe, Steffen (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 2021
In: Genetics in medicine
Year: 2021, Jahrgang: 23, Heft: 3, Pages: 516-523
ISSN:1530-0366
DOI:10.1038/s41436-020-01001-z
Online-Zugang:Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41436-020-01001-z
Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41436-020-01001-z
Volltext
Verfasserangaben:Julian Schröter, MD, Jan H. Döring, MD, Sven F. Garbade, PhD, Georg F. Hoffmann, MD, Stefan Kölker, MD, Markus Ries, MD, PhD and Steffen Syrbe, MD

MARC

LEADER 00000caa a2200000 c 4500
001 1758444134
003 DE-627
005 20221123153845.0
007 cr uuu---uuuuu
008 210525s2021 xx |||||o 00| ||eng c
024 7 |a 10.1038/s41436-020-01001-z  |2 doi 
035 |a (DE-627)1758444134 
035 |a (DE-599)KXP1758444134 
035 |a (OCoLC)1341413877 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Schröter, Julian  |d 1989-  |e VerfasserIn  |0 (DE-588)1059101629  |0 (DE-627)797963308  |0 (DE-576)415127343  |4 aut 
245 1 0 |a Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies  |c Julian Schröter, MD, Jan H. Döring, MD, Sven F. Garbade, PhD, Georg F. Hoffmann, MD, Stefan Kölker, MD, Markus Ries, MD, PhD and Steffen Syrbe, MD 
264 1 |c 2021 
300 |a 8 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Published: 21 October 2020 
500 |a Gesehen am 25.05.2021 
520 |a TUBA1A and TUBB2B tubulinopathies are rare neurodevelopmental disorders characterized by cortical and extracortical malformations and heterogenic phenotypes. There is a need for quantitative clinical endpoints that will be beneficial for future diagnostic and therapeutic trials. 
700 1 |a Driedger, Jan Henje  |d 1983-  |e VerfasserIn  |0 (DE-588)1046803549  |0 (DE-627)777061643  |0 (DE-576)400131404  |4 aut 
700 1 |a Garbade, Sven  |d 1971-  |e VerfasserIn  |0 (DE-588)129234362  |0 (DE-627)707186889  |0 (DE-576)297554263  |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 Kölker, Stefan  |e VerfasserIn  |0 (DE-588)1022937758  |0 (DE-627)717335771  |0 (DE-576)366197568  |4 aut 
700 1 |a Ries, Markus  |d 1971-  |e VerfasserIn  |0 (DE-588)136385338  |0 (DE-627)582068479  |0 (DE-576)300993358  |4 aut 
700 1 |a Syrbe, Steffen  |d 1976-  |e VerfasserIn  |0 (DE-588)133581926  |0 (DE-627)691603138  |0 (DE-576)272999482  |4 aut 
773 0 8 |i Enthalten in  |t Genetics in medicine  |d Amsterdam : Elsevier, 1998  |g 23(2021), 3, Seite 516-523  |h Online-Ressource  |w (DE-627)338073361  |w (DE-600)2063504-7  |w (DE-576)109132475  |x 1530-0366  |7 nnas  |a Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies 
773 1 8 |g volume:23  |g year:2021  |g number:3  |g pages:516-523  |g extent:8  |a Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies 
856 4 0 |u https://doi.org/10.1038/s41436-020-01001-z  |x Verlag  |x Resolving-System  |z kostenfrei  |3 Volltext 
856 4 0 |u https://www.nature.com/articles/s41436-020-01001-z  |x Verlag  |z kostenfrei  |3 Volltext 
951 |a AR 
992 |a 20210525 
993 |a Article 
994 |a 2021 
998 |g 133581926  |a Syrbe, Steffen  |m 133581926:Syrbe, Steffen  |d 910000  |d 910500  |d 50000  |e 910000PS133581926  |e 910500PS133581926  |e 50000PS133581926  |k 0/910000/  |k 1/910000/910500/  |k 0/50000/  |p 7  |y j 
998 |g 136385338  |a Ries, Markus  |m 136385338:Ries, Markus  |d 910000  |d 910500  |d 50000  |e 910000PR136385338  |e 910500PR136385338  |e 50000PR136385338  |k 0/910000/  |k 1/910000/910500/  |k 0/50000/  |p 6 
998 |g 1022937758  |a Kölker, Stefan  |m 1022937758:Kölker, Stefan  |d 910000  |d 910500  |d 50000  |e 910000PK1022937758  |e 910500PK1022937758  |e 50000PK1022937758  |k 0/910000/  |k 1/910000/910500/  |k 0/50000/  |p 5 
998 |g 115652868  |a Hoffmann, Georg F.  |m 115652868:Hoffmann, Georg F.  |d 910000  |d 910500  |d 50000  |e 910000PH115652868  |e 910500PH115652868  |e 50000PH115652868  |k 0/910000/  |k 1/910000/910500/  |k 0/50000/  |p 4 
998 |g 129234362  |a Garbade, Sven  |m 129234362:Garbade, Sven  |d 910000  |d 910500  |e 910000PG129234362  |e 910500PG129234362  |k 0/910000/  |k 1/910000/910500/  |p 3 
998 |g 1046803549  |a Driedger, Jan Henje  |m 1046803549:Driedger, Jan Henje  |d 910000  |d 910500  |e 910000PD1046803549  |e 910500PD1046803549  |k 0/910000/  |k 1/910000/910500/  |p 2 
998 |g 1059101629  |a Schröter, Julian  |m 1059101629:Schröter, Julian  |d 910000  |d 910500  |e 910000PS1059101629  |e 910500PS1059101629  |k 0/910000/  |k 1/910000/910500/  |p 1  |x j 
999 |a KXP-PPN1758444134  |e 3930682400 
BIB |a Y 
SER |a journal 
JSO |a {"name":{"displayForm":["Julian Schröter, MD, Jan H. Döring, MD, Sven F. Garbade, PhD, Georg F. Hoffmann, MD, Stefan Kölker, MD, Markus Ries, MD, PhD and Steffen Syrbe, MD"]},"recId":"1758444134","language":["eng"],"note":["Published: 21 October 2020","Gesehen am 25.05.2021"],"origin":[{"dateIssuedKey":"2021","dateIssuedDisp":"2021"}],"id":{"eki":["1758444134"],"doi":["10.1038/s41436-020-01001-z"]},"relHost":[{"id":{"issn":["1530-0366"],"eki":["338073361"],"zdb":["2063504-7"]},"type":{"bibl":"periodical","media":"Online-Ressource"},"title":[{"title":"Genetics in medicine","title_sort":"Genetics in medicine","subtitle":"official journal of the American College of Medical Genetics"}],"physDesc":[{"extent":"Online-Ressource"}],"corporate":[{"role":"isb","display":"American College of Medical Genetics"}],"titleAlt":[{"title":"GIM"}],"disp":"Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathiesGenetics in medicine","part":{"pages":"516-523","issue":"3","extent":"8","year":"2021","volume":"23","text":"23(2021), 3, Seite 516-523"},"pubHistory":["1.1998/99 -"],"recId":"338073361","language":["eng"],"note":["Gesehen am 27.07.2023"],"origin":[{"publisherPlace":"Amsterdam ; London, UK ; Baltimore, Md.","dateIssuedKey":"1998","dateIssuedDisp":"1998-","publisher":"Elsevier ; Springer Nature ; Lippincott, Williams & Wilkins"}]}],"physDesc":[{"extent":"8 S."}],"title":[{"title":"Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies","title_sort":"Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies"}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"person":[{"display":"Schröter, Julian","family":"Schröter","given":"Julian","role":"aut"},{"display":"Driedger, Jan Henje","family":"Driedger","given":"Jan Henje","role":"aut"},{"given":"Sven","role":"aut","display":"Garbade, Sven","family":"Garbade"},{"family":"Hoffmann","display":"Hoffmann, Georg F.","role":"aut","given":"Georg F."},{"given":"Stefan","role":"aut","display":"Kölker, Stefan","family":"Kölker"},{"display":"Ries, Markus","family":"Ries","given":"Markus","role":"aut"},{"role":"aut","given":"Steffen","family":"Syrbe","display":"Syrbe, Steffen"}]} 
SRT |a SCHROETERJCROSSSECTI2021 

Ähnliche Einträge