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Saskia Biskup

Showing results (171-180 of 226) with videos related to

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Brain Communications|February 16, 2023
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1Julien H Park, Ulrika Nordström, Konstantinos Tsiakas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 7, 2020
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxiaSimone Schröder, Yun Li, Gökhan Yigit, et al.
The Journal of Biological Chemistry|September 13, 2025
Ascorbate mitigates oxidative stress and hemin cytotoxicity in heme oxygenase-1 deficiencyLea-Sophie Berendes, Petra Schulze Westhoff, Ann-Marie Tobinski, et al.
Human Mutation|April 14, 2025
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of <i>PGAP2</i> Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, et al.
American Journal of Medical Genetics. Part A|November 25, 2022
Genetic and phenotypic spectrum in the NONO-associated syndromic disorderFranziska Roessler, Anita E Beck, Ball Susie, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4Philip Harrer, Volker Kittke, Alice Saparov, et al.
Neuron|November 16, 2004
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathologyAlexander Zimprich, Saskia Biskup, Petra Leitner, et al.
Journal of Parkinson'S Disease|July 9, 2014
Behavioral deficits and striatal DA signaling in LRRK2 p.G2019S transgenic rats: a multimodal investigation including PET neuroimagingMatthew D Walker, Mattia Volta, Stefano Cataldi, et al.
European Journal of Human Genetics : EJHG|April 2, 2024
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsySamin A Sajan, Ralph Gradisch, Florian D Vogel, et al.
Annals of Neurology|January 3, 2025
Phenotype Spectrum of TRPM3-Associated DisordersLaura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
Pageof 23

Showing results (171-180 of 226) with videos related to

Sort By:
Pageof 23
Brain Communications|February 16, 2023
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1Julien H Park, Ulrika Nordström, Konstantinos Tsiakas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 7, 2020
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxiaSimone Schröder, Yun Li, Gökhan Yigit, et al.
The Journal of Biological Chemistry|September 13, 2025
Ascorbate mitigates oxidative stress and hemin cytotoxicity in heme oxygenase-1 deficiencyLea-Sophie Berendes, Petra Schulze Westhoff, Ann-Marie Tobinski, et al.
Human Mutation|April 14, 2025
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of <i>PGAP2</i> Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, et al.
American Journal of Medical Genetics. Part A|November 25, 2022
Genetic and phenotypic spectrum in the NONO-associated syndromic disorderFranziska Roessler, Anita E Beck, Ball Susie, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4Philip Harrer, Volker Kittke, Alice Saparov, et al.
Neuron|November 16, 2004
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathologyAlexander Zimprich, Saskia Biskup, Petra Leitner, et al.
Journal of Parkinson'S Disease|July 9, 2014
Behavioral deficits and striatal DA signaling in LRRK2 p.G2019S transgenic rats: a multimodal investigation including PET neuroimagingMatthew D Walker, Mattia Volta, Stefano Cataldi, et al.
European Journal of Human Genetics : EJHG|April 2, 2024
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsySamin A Sajan, Ralph Gradisch, Florian D Vogel, et al.
Annals of Neurology|January 3, 2025
Phenotype Spectrum of TRPM3-Associated DisordersLaura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
Pageof 23