Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Reference31 articles.
1. Barth PG. Pontocerebellar hypoplasias an overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev. 1993;15(6):411–22.
2. Barth PG, Aronica E, de Vries L, Nikkels PGJ, Scheper W, Hoozemans JJ, et al. Pontocerebellar hypoplasia type 2: a neuropathological update. Acta Neuropathol. 2007;114(4):373–86.
3. Brun R. Zur Kenntnis der Bildungsfehler des Kleinhirns. Epikritische Bemerkungen zur Entwicklungspathologie, Morphologie und Klinik der Umschriebenen Entwicklungshemmungen des Neozerebellums. Schweiz Arch Neurol Psychiatr.1917;1:48–105.
4. Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, et al. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Europ J Hum Genet. 2021;29:411–21.
5. Ucuncu E, Rajamani K, Wilson MSC, Medina-Cano D, Altin N, David P, et al. MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in pontocerebellar hypoplasia. Nature Commun. 2020;11:6087.