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1 . Academic Journal
The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort
저자
by
Dawson, Jessica
;
Kay, Chris
;
Black, Hailey Findlay
;
Bortnick, Stephanie
;
Javier, Kyla
, et al.
소스
In
Genetics in Medicine
November 2024 26(11)
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7 . Academic Journal
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.
저자
by
Thiels, Charlotte
;
Lücke, Thomas
;
Rothoeft, Tobias
;
Lukas, Carsten
;
Nguyen, Huu P.
, et al.
소스
Neuropediatrics
. Apr2024, Vol. 55 Issue 2, p140-145. 6p.
Web of Science
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7 . Academic Journal
Breast cancer characteristics and surgery among women with Li‐Fraumeni syndrome in Germany—A retrospective cohort study.
저자
by
Rippinger, Nathalie
;
Fischer, Christine
;
Sinn, Hans‐Peter
;
Dikow, Nicola
;
Sutter, Christian
, et al.
소스
Cancer Medicine
. Nov2021, Vol. 10 Issue 21, p7747-7758. 12p.
Open Access (Wiley)
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7 . Periodical
The Frequency and Clinical Impact of Synonymous HTTLoss-of-Interruption and Duplication-of-interruption Variants in a Diverse HD Cohort
저자
by
Dawson, Jessica
;
Kay, Chris
;
Black, Hailey Findlay
;
Bortnick, Stephanie
;
Javier, Kyla
, et al.
소스
Genetics in Medicine; 20240101, Issue: Preprints
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7 . Academic Journal
Cancer surveillance and distress among adult pathogenic TP53 germline variant carriers in Germany: A multicenter feasibility and acceptance survey.
저자
by
Rippinger, Nathalie
;
Fischer, Christine
;
Haun, Markus W.
;
Rhiem, Kerstin
;
Grill, Sabine
, et al.
소스
Cancer (0008543X)
. Sep2020, Vol. 126 Issue 17, p4032-4041. 10p.
Full Text (Wiley)
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7 . Academic Journal
The Alteration of Emotion Regulation Precedes the Deficits in Interval Timing in the BACHD Rat Model for Huntington Disease.
저자
by
Garces, Daniel
;
El Massioui, Nicole
;
Lamirault, Charlotte
;
Riess, Olaf
;
Nguyen, Huu P.
, et al.
소스
Frontiers in Integrative Neuroscience; 5/9/2018, p1-N.PAG, 15p
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7 . Academic Journal
A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3.
저자
by
Weber, Jonasz J.
;
Golla, Matthias
;
Guaitoli, Giambattista
;
Wanichawan, Pimthanya
;
Hayer, Stefanie N.
, et al.
소스
Brain: A Journal of Neurology
. May2017, Vol. 140 Issue 5, p1280-1299. 20p.
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7 . Academic Journal
Olesoxime suppresses calpain activation and mutant huntingtin fragmentation in the BACHD rat
저자
by
Clemens, Laura E.
;
Weber, Jonasz J.
;
Wlodkowski, Tanja T.
;
Yu-Taeger, Libo
;
Michaud, Magali
, et al.
소스
Brain
. Dec 01, 2015 138(12):3632-3653
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7 .
Reduced cell size, chromosomal aberration and altered proliferation rates are characteristics and confounding factors in the STHdh cell model of Huntington disease
저자
by
Singer, Elisabeth
;
Walter, Carolin
;
Weber, Jonasz J.
;
Krahl, Ann-Christin
;
Mau-Holzmann, Ulrike A.
, et al.
소스
Scientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)
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7 . Academic Journal
Olfactory neuron-specific expression of A30P alpha-synuclein exacerbates dopamine deficiency and hyperactivity in a novel conditional model of early Parkinson's disease stages
저자
by
Nuber, Silke
;
Petrasch-Parwez, Elisabeth
;
Arias-Carrión, Oscar
;
Koch, Leanie
;
Kohl, Zacharias
, et al.
소스
Neurobiology of Disease
. Nov2011, Vol. 44 Issue 2, p192-204. 13p.
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