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1 . Academic Journal
Reduced Expression of GABAA Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons
저자
by
Selma Staege
;
Anna Kutschenko
;
Hauke Baumann
;
Hannes Glaß
;
Lisa Henkel
, et al.
소스
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers
저자
by
Hauke Baumann
;
Magdalena Jahn
;
Alexander Muenchau
;
Michaela Trilck-Winkler
;
Katja Lohmann
, et al.
소스
Stem Cell Research, Vol 33, Iss , Pp 60-64 (2018)
Full Text (ScienceDirect)
Open Access (DOAJ)
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7 .
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature
저자
by
Max Borsche
;
Marija Dulovic-Mahlow
;
Hauke Baumann
;
Sinem Tunc
;
Theresa Lüth
, et al.
소스
The Cerebellum
.
Open Access (OpenAIRE)
Scopus
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7 .
Linking Penetrance and Transcription in
DYT‐THAP1
: Insights From a Human
iPSC
‐Derived Cortical Model
저자
by
Hauke Baumann
;
Katja Lohmann
;
Simone Zittel
;
Hauke Busch
;
Christine Klein
, et al.
소스
Movement Disorders
. 36:1381-1391
Full Text (Wiley)
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7 .
Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature
저자
by
Sinem Tunc
;
Albrecht Günther
;
Katja Lohmann
;
Norbert Brüggemann
;
Alexander Münchau
, et al.
소스
Parkinsonism & Related Disorders
. 80:41-46
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7 .
Schwindende Sinne – progrediente Ataxie, Taubheit und Blindheit bei einer 42-jährigen Patientin
저자
by
Thomas F. Münte
;
Max Borsche
;
Norbert Brüggemann
;
Hauke Baumann
;
Christine Klein
.
소스
DGNeurologie
. 3:60-62
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7 .
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
저자
by
Victor Krajka
;
Arndt Rolfs
;
Joanne Trinh
;
Rami Abou Jamra
;
Kristian Tveten
, et al.
소스
The American Journal of Human Genetics
. 105:213-220
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7 .
Spinocerebellar Ataxia Type 28—Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2
저자
by
Alexander Münchau
;
Hauke Baumann
;
Johanna Junker
;
Katja Lohmann
;
Magdalena Jahn
, et al.
소스
The Cerebellum
. 18:817-822
Web of Science
Scopus
JCR 저널정보
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7 .
Reduced Expression of GABA A Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons
저자
by
Selma Staege
;
Anna Kutschenko
;
Hauke Baumann
;
Hannes Glaß
;
Lisa Henkel
, et al.
소스
Frontiers in cell and developmental biology 9, 650586 (2021). doi:10.3389/fcell.2021.650586
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Frontiers in Cell and Developmental Biology
Open Access (OpenAIRE)
요약보기
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EndNote
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7 .
De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient
저자
by
Hauke Baumann
;
Christine Klein
;
Norbert Brüggemann
;
Andreas Ferbert
;
Luisa Olschewski
, et al.
소스
Parkinsonism & Related Disorders
. 64:337-339
Full Text (Clinical Key)
Web of Science
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