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DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, Tardif J, Dieterich K, Dabir T, Vind-Kezunovic D, White SM, Zadori D, Castiglioni C, Tranebjærg L, Tørring PM, Blair E, Wisniewska M, Camurri MV, van Bever Y, Molidperee S, Taylor J, Dionne-Laporte A, Sisodiya SM, Hennekam RCM, Campeau PM. Beauregard-Lacroix E, et al. Among authors: zadori d. Genet Med. 2021 Jan;23(1):149-154. doi: 10.1038/s41436-020-00950-9. Epub 2020 Sep 2. Genet Med. 2021. PMID: 32873933 Free article.
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, Tardif J, Dieterich K, Dabir T, Vind-Kezunovic D, White SM, Zadori D, Castiglioni C, Tranebjærg L, Tørring PM, Blair E, Wisniewska M, Camurri MV, van Bever Y, Molidperee S, Taylor J, Dionne-Laporte A, Sisodiya SM, Hennekam RCM, Campeau PM. Beauregard-Lacroix E, et al. Among authors: zadori d. Genet Med. 2021 Jan;23(1):237. doi: 10.1038/s41436-020-00969-y. Genet Med. 2021. PMID: 32934366 Free article. No abstract available.
Atypical presentation of late-onset Sandhoff disease: a case report.
Salamon A, Szpisjak L, Zádori D, Lénárt I, Maróti Z, Kalmár T, Brierley CMH, Deegan PB, Klivényi P. Salamon A, et al. Among authors: zadori d. Ideggyogy Sz. 2021 Nov 30;74(11-12):425-429. doi: 10.18071/isz.74.0425. Ideggyogy Sz. 2021. PMID: 34856081 Free article. English.
Clinical parameters predict the effect of bilateral subthalamic stimulation on dynamic balance parameters during gait in Parkinson's disease.
Kelemen A, Halász L, Muthuraman M, Erőss L, Barsi P, Zádori D, Laczó B, Kis D, Klivényi P, Fekete G, Bognár L, Bereczki D, Tamás G. Kelemen A, et al. Among authors: zadori d. Front Neurol. 2022 Sep 26;13:917187. doi: 10.3389/fneur.2022.917187. eCollection 2022. Front Neurol. 2022. PMID: 36226087 Free PMC article.
97 results