Browsing Universitätsbibliographie by Author "Park, Joohyun"

Now showing items 1-13 of 13

Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease

Park, Joohyun; Deininger, Natalie; Laugwitz, Lucia; Synofzik, Matthis; Haack, Tobias (2022)
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders

Park, Joohyun; Haack, Tobias (2021)
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

Park, Joohyun; Küpper, Hanna; Rautenberg, Maren; Deininger, Natalie; Weichselbaum, Annette; Grimm, Alexander; Sturm, Marc; Grasshoff, Ute; Haack, Tobias (2020)
Delineating MT-ATP6-associated disease

Park, Joohyun; Schöls, Ludger; Synofzik, Matthis; Haack, Tobias (2020)
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Park, Joohyun; Haack, Tobias (2022)
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing

Park, Joohyun; Beck-Wödl, Stefanie; Haack, Tobias (2022)
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Park, Joohyun; Demidov, German; Velic, Ana; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Sturm, Marc; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Hengel, Holger; Hayer, Stefanie Nicole; Rieß, Olaf; Schöls, Ludger; Haack, Tobias (2022)
Identifying the genetic basis of rare neurological disorders

Park, Joohyun (2021)
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum

Park, Joohyun; Koko, Mahmoud; Hedrich, Ulrike B. S.; Grimmel, Mona; Beck-Wödl, Stefanie; Harrer, Merle; Sturm, Marc; Wolff, Markus; Lerche, Holger; Haack, Tobias (2019)
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms

Weisschuh, Nicole; Richter, Paul; Park, Joohyun; Schäferhoff, Karin; Haack, Tobias (2022)
Novel HIVEP2 Variants in Patients with Intellectual Disability

Park, Joohyun; Grimmel, Mona; Sturm, Marc; Grasshoff, Ute; Dufke, Andreas; Kehrer, Martin; Schäferhoff, Karin; Haack, Tobias (2019)
Spinale Muskelatrophie

Horber, Veronka; Park, Joohyun; Kronlage, Cornelius; Grimm, Alexander; Martin, Pascal Christopher (2022)
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia

Park, Joohyun; Harmuth, Florian; Rautenberg, Maren; Demidov, German; Sturm, Marc; Ossowski, Stephan; Stöbe, Petra; Wörz, Sarah Elisabeth; Haack, Tobias (2022)

Now showing items 1-13 of 13

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