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Matias Wagner

Showing results (91-100 of 188) with videos related to

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American Journal of Human Genetics|December 19, 2020
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidismChunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, et al.
EMBO Molecular Medicine|May 25, 2019
Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolismJulia K Götzl, Matthias Brendel, Georg Werner, et al.
HGG Advances|May 14, 2023
<i>De novo</i> variants in <i>GATAD2A</i> in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorderElizabeth A Werren, Alba Guxholli, Natasha Jones, et al.
Annals of Neurology|November 5, 2022
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal LesionsPhilip Harrer, Audrey Schalk, Masaru Shimura, et al.
Journal of Neurology|October 29, 2022
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide studyMartin Krenn, Merve Sener, Jakob Rath, et al.
Genome Medicine|April 13, 2021
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypesZheng Yie Yap, Yo Han Park, Saskia B Wortmann, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|June 11, 2026
Epilepsy surgery in pediatric patients with complex COL4A1/2-associated epilepsyJan P Nieke, Ingrid Koerber-Rosso, Lena-Luise Becker, et al.
European Journal of Human Genetics : EJHG|June 26, 2023
Episignature analysis of moderate effects and mosaicsKonrad Oexle, Michael Zech, Lara G Stühn, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|September 21, 2022
Relationship of serum beta-synuclein with blood biomarkers and brain atrophyPatrick Oeckl, Sarah Anderl-Straub, Adrian Danek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaMaria Asif, Arwa Ishaq A Khayyat, Salem Alawbathani, et al.
Pageof 19

Showing results (91-100 of 188) with videos related to

Sort By:
Pageof 19
American Journal of Human Genetics|December 19, 2020
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidismChunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, et al.
EMBO Molecular Medicine|May 25, 2019
Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolismJulia K Götzl, Matthias Brendel, Georg Werner, et al.
HGG Advances|May 14, 2023
<i>De novo</i> variants in <i>GATAD2A</i> in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorderElizabeth A Werren, Alba Guxholli, Natasha Jones, et al.
Annals of Neurology|November 5, 2022
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal LesionsPhilip Harrer, Audrey Schalk, Masaru Shimura, et al.
Journal of Neurology|October 29, 2022
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide studyMartin Krenn, Merve Sener, Jakob Rath, et al.
Genome Medicine|April 13, 2021
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypesZheng Yie Yap, Yo Han Park, Saskia B Wortmann, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|June 11, 2026
Epilepsy surgery in pediatric patients with complex COL4A1/2-associated epilepsyJan P Nieke, Ingrid Koerber-Rosso, Lena-Luise Becker, et al.
European Journal of Human Genetics : EJHG|June 26, 2023
Episignature analysis of moderate effects and mosaicsKonrad Oexle, Michael Zech, Lara G Stühn, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|September 21, 2022
Relationship of serum beta-synuclein with blood biomarkers and brain atrophyPatrick Oeckl, Sarah Anderl-Straub, Adrian Danek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaMaria Asif, Arwa Ishaq A Khayyat, Salem Alawbathani, et al.
Pageof 19