Research output per year
Research output per year
Organization Card
technical description
TFS5DP3TUMonline:TFS5DP3 2023-10-01
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Profiles
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Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
Brugger, M., Lauri, A., Zhen, Y., Gramegna, L. L., Zott, B., Sekulić, N., Fasano, G., Kopajtich, R., Cordeddu, V., Radio, F. C., Mancini, C., Pizzi, S., Paradisi, G., Zanni, G., Vasco, G., Carrozzo, R., Palombo, F., Tonon, C., Lodi, R. & La Morgia, C. & 20 others, , 7 Mar 2024, In: American Journal of Human Genetics. 111, 3, p. 594-613 20 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy
Necpál, J., Winkelmann, J., Zech, M. & Jech, R., Jun 2023, In: Parkinsonism and Related Disorders. 111, 105437.Research output: Contribution to journal › Letter › peer-review
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Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch
Dzinovic, I., Graf, E., Brugger, M., Berutti, R., Příhodová, I., Blaschek, A., Winkelmann, J., Jech, R., Vill, K. & Zech, M., Jul 2023, In: Movement Disorders Clinical Practice. 10, 7, p. 1159-1161 3 p.Research output: Contribution to journal › Comment/debate
Open Access