BOKU - Universität für Bodenkultur Wien - Forschungsinformationssystem

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Gewählte Publikation:

Tripathy, R; Leca, I; van Dijk, T; Weiss, J; van Bon, BW; Sergaki, MC; Gstrein, T; Breuss, M; Tian, G; Bahi-Buisson, N; Paciorkowski, AR; Pagnamenta, AT; Wenninger-Weinzierl, A; Martinez-Reza, MF; Landler, L; Lise, S; Taylor, JC; Terrone, G; Vitiello, G; Del Giudice, E; Brunetti-Pierri, N; D"Amico, A; Reymond, A; Voisin, N; Bernstein, JA; Farrelly, E; Kini, U; Leonard, TA; Valence, S; Burglen, L; Armstrong, L; Hiatt, SM; Cooper, GM; Aldinger, KA; Dobyns, WB; Mirzaa, G; Pierson, TM; Baas, F; Chelly, J; Cowan, NJ; Keays, DA; .
(2018): Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Neuron. 2018; 100(6):1354-1368.e5 FullText FullText_BOKU

Autor*innen der BOKU Wien:
Landler Lukas
BOKU Gendermonitor:

Find related publications in this database (using NML MeSH Indexing)
Agenesis of Corpus Callosum/complications
Agenesis of Corpus Callosum/diagnostic imaging
Agenesis of Corpus Callosum/genetics*
Agenesis of Corpus Callosum/pathology
Animals
Animals, Newborn
Apoptosis/genetics
Brain/metabolism
Brain/pathology
Cells, Cultured
Cerebellum/abnormalities*
Cerebellum/diagnostic imaging
Child
Developmental Disabilities/complications
Developmental Disabilities/diagnostic imaging
Developmental Disabilities/genetics
Disease Models, Animal
Embryo, Mammalian
Female
Gene Expression Regulation, Developmental/genetics*
Humans
Male
Malformations of Cortical Development/complications
Malformations of Cortical Development/diagnostic imaging
Malformations of Cortical Development/genetics*
Mice
Mice, Inbred C57BL
Mice, Knockout
Microtubule-Associated Proteins/deficiency
Microtubule-Associated Proteins/genetics*
Mutation/genetics*
Nerve Tissue Proteins/metabolism
Nervous System Malformations/complications
Nervous System Malformations/diagnostic imaging
Nervous System Malformations/genetics*
PAX6 Transcription Factor/metabolism



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