PMC Articles for MedGen (Select 1798903) - PMC

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Items: 4

Select item 95875821.

Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report

Hao-Yi Tan, Bin Wang, Yuan-Zong Song

BMC Pediatr. 2022; 22: 612. Published online 2022 Oct 22. doi: 10.1186/s12887-022-03672-w

PMCID:: PMC9587582

Abstract Article PDF–960K

Select item 63073192.

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, Elisabeth Latta, Axel Pagenstecher, Ursula Keber

Acta Neuropathol Commun. 2018; 6: 145. Published online 2018 Dec 27. doi: 10.1186/s40478-018-0646-6

PMCID:: PMC6307319

Abstract Article PDF–3.9M

Select item 87932803.

Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport

Danielle de Paula Moreira, Angela May Suzuki, André Luiz Teles e Silva, Elisa Varella-Branco, Maria Cecília Zorél Meneghetti, Gerson Shigeru Kobayashi, Mariana Fogo, Merari de Fátima Ramires Ferrari, Rafaela Regina Cardoso, Naila Cristina Vilaça Lourenço, Karina Griesi-Oliveira, Elaine Cristina Zachi, Débora Romeo Bertola, Karina de Souza Weinmann, Marcelo Andrade de Lima, Helena Bonciani Nader, Andrea Laurato Sertié, Maria Rita Passos-Bueno

Front Cell Neurosci. 2021; 15: 803302. Published online 2022 Jan 13. doi: 10.3389/fncel.2021.803302