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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong L, Tardivo A, Knaus A, Hashim M, Pagnamenta AT, Alt K, Böhrer-Rabel H, Caro-Llopis A, Cole T, Distelmaier F, Edery P, Ferreira CR, Jezela-Stanek A, Kerr B, Kluger G, Krawitz PM, Kuhn M, Lemke JR, Lesca G, Lynch SA, Martinez F, Maxton C, Mierzewska H, Monfort S, Nicolai J, Orellana C, Pal DK, Płoski R, Quarrell OW, Rosello M, Rydzanicz M, Sabir A, Śmigiel R, Stegmann APA, Stewart H, Stumpel C, Szczepanik E, Tzschach A, Wolfe L, Taylor JC, Murakami Y, Kinoshita T, Bayat A, Kini U. Loong L, et al. Among authors: alt k. Genet Med. 2023 Jan;25(1):37-48. doi: 10.1016/j.gim.2022.09.007. Epub 2022 Nov 2. Genet Med. 2023. PMID: 36322149 Free article.
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Among authors: alt k. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230
Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation.
Lehmann Urban D, Motlagh Scholle L, Alt K, Ludolph AC, Rosenbohm A. Lehmann Urban D, et al. Among authors: alt k. Diagnostics (Basel). 2020 Jan 26;10(2):68. doi: 10.3390/diagnostics10020068. Diagnostics (Basel). 2020. PMID: 31991853 Free PMC article.
NR4A2 and Dystonia with Dopa Responsiveness.
Winter B, Krämer J, Meinhardt T, Berner D, Alt K, Wenzel M, Winkelmann J, Zech M. Winter B, et al. Among authors: alt k. Mov Disord. 2021 Sep;36(9):2203-2204. doi: 10.1002/mds.28701. Epub 2021 Jun 21. Mov Disord. 2021. PMID: 34155693 No abstract available.
Corrigendum to "Chemoenzymatic surface decoration of Nisin-shelled nanoemulsions: Novel targeted drug-nanocarriers for cancer applications" [Ultrason. Sonochem. 90 (2022) 106183].
Hashad RA, Singla R, Bhangu SK, Jap E, Zhu H, Peleg AY, Blakeway L, Hagemeyer CE, Cavalieri F, Ashokkumar M, Alt K. Hashad RA, et al. Among authors: alt k. Ultrason Sonochem. 2024 May;105:106862. doi: 10.1016/j.ultsonch.2024.106862. Epub 2024 Apr 5. Ultrason Sonochem. 2024. PMID: 38580569 Free PMC article. No abstract available.
185 results