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Author/Creator Wentzensen, Ingrid M

1. Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration. (12th November 2018)

Authors:
Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik‐Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán‐Vega, Francisco J; Pena, Loren ...
Journal:
EMBO journal
Issue:
Volume 37:Number 23(2018)
Page Start:
n/a
Record Type:
Journal Article
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2. Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. Issue 8 (2nd September 2017)

Authors:
Pilarowski, Genay O; Vernon, Hilary J; Applegate, Carolyn D; Boukas, Leandros; Cho, Megan T; Gurnett, Christina A; Benke, Paul J; Beaver, Erin; Heeley, Jennifer M; Medne, Livija; Krantz, Ian D; Azage, Meron; Niyazov, Dmitriy; Henderson, Lindsay B; Wentzensen, Ingrid M; Baskin, Berivan; Sacoto, Ma...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 8(2018)
Page Start:
561
Record Type:
Journal Article
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3. Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum. (29th March 2014)

Authors:
Ngoh, Adeline; McTague, Amy; Wentzensen, Ingrid M; Meyer, Esther; Applegate, Carolyn; Kossoff, Eric H; Batista, Denise A; Wang, Tao; Kurian, Manju A
Journal:
Developmental medicine & child neurology
Issue:
Volume 56:Number 11(2014:Nov.)
Page Start:
1124
Record Type:
Journal Article
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