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Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia.
Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Dafsari HS, et al. Among authors: wunderlich g. J Hum Genet. 2019 Oct;64(10):1051-1054. doi: 10.1038/s10038-019-0644-y. J Hum Genet. 2019. PMID: 31388109
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Karakaya M, Storbeck M, Strathmann EA, Delle Vedove A, Hölker I, Altmueller J, Naghiyeva L, Schmitz-Steinkrüger L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Polat AI, Okur D, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Yis U, Nürnberg P, Heller R, Wirth B. Karakaya M, et al. Among authors: wunderlich g. Hum Mutat. 2018 Sep;39(9):1284-1298. doi: 10.1002/humu.23560. Epub 2018 Jul 25. Hum Mutat. 2018. PMID: 29858556
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, Becker K, Schulze-Rhonhof M, Kiening K, Karakulak T, Kloss M, Horn A, Pauls A, Nürnberg P, Altmüller J, Thiele H, Assmann B, Koy A, Cirak S. Dafsari HS, et al. Among authors: wunderlich g. J Hum Genet. 2019 Aug;64(8):803-813. doi: 10.1038/s10038-019-0625-1. Epub 2019 Jun 5. J Hum Genet. 2019. PMID: 31165786
Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia.
Okur D, Daimagüler HS, Danyeli AE, Tekgül H, Wang H, Wunderlich G, Çırak S, Yiş U. Okur D, et al. Among authors: wunderlich g. Turk J Pediatr. 2019;61(6):931-936. doi: 10.24953/turkjped.2019.06.015. Turk J Pediatr. 2019. PMID: 32134588 Free article.
Okur D, Daimaguler HS, Ersen Danyeli A, Tekgul H, Wang H, Wunderlich G, Cirak S, Yis U. Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia. ...
Okur D, Daimaguler HS, Ersen Danyeli A, Tekgul H, Wang H, Wunderlich G, Cirak S, Yis U. Bi-allelic mutations in PRUNE lead to …
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B. Mendoza-Ferreira N, et al. Among authors: wunderlich g. Am J Hum Genet. 2020 Oct 1;107(4):763-777. doi: 10.1016/j.ajhg.2020.08.018. Epub 2020 Sep 15. Am J Hum Genet. 2020. PMID: 32937143 Free PMC article.
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia.
Park J, Reilaender A, Petry-Schmelzer JN, Stöbe P, Cordts I, Harmuth F, Rautenberg M, Woerz SE, Demidov G, Sturm M, Ossowski S, Schwaibold EMC, Wunderlich G, Paus S, Saft C, Haack TB. Park J, et al. Among authors: wunderlich g. Neurol Genet. 2021 Dec 7;8(1):e644. doi: 10.1212/NXG.0000000000000644. eCollection 2022 Feb. Neurol Genet. 2021. PMID: 34901436 Free PMC article.
299 results