T
Tessa van Dijk
Researcher at University of Amsterdam
Publications - 6
Citations - 85
Tessa van Dijk is an academic researcher from University of Amsterdam. The author has contributed to research in topics: Pontocerebellar hypoplasia & Compound heterozygosity. The author has an hindex of 4, co-authored 6 publications receiving 56 citations. Previous affiliations of Tessa van Dijk include Leiden University Medical Center.
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Journal ArticleDOI
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.
TL;DR: A de novo missense mutation in the inositol, 1,4,5 triphosphate receptor type 1 (ITPR1) gene is reported in a patient with severe pontocerebellar hypoplasia, which further expands the spectrum of ITPR1‐related ataxias.
Journal ArticleDOI
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
Tessa van Dijk,Sabine Rudnik-Schöneborn,Jan Senderek,Ghazaleh Hajmousa,Hailiang Mei,Marina Dusl,Eleonora Aronica,Peter G. Barth,Frank Baas +8 more
TL;DR: This research presents a novel and scalable approaches, called “Smart Gene Regulation,” which aims to provide real-time information about the “building blocks” of disease-causing mutations and its consequences.
Journal ArticleDOI
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia
Tessa van Dijk,Tessa van Dijk,Jan-Dirk Vermeij,Silvana van Koningsbruggen,Phillis Lakeman,Frank Baas,Bwee Tien Poll-The +6 more
TL;DR: It is underline that defects in selenoprotein synthesis can also result in milder cerebellar atrophy presenting at a later age, as a 23-year-old woman with slowly progressive Cerebellar ataxia and cognitive impairment is reported.
Book ChapterDOI
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?
Tessa van Dijk,Fred van Ruissen,Bregje Jaeger,Richard J. Rodenburg,Saskia Tamminga,Merel C. van Maarle,Frank Baas,Nicole I. Wolf,Bwee Tien Poll-The +8 more
TL;DR: Two patients, compound heterozygous for RARS2 mutations, presenting with early onset epileptic encephalopathy and (progressive) atrophy of both supra- and infratentorial structures are reported, expanding the phenotypical spectrum associated with Rars2 mutations beyond the first report of PCH6.
Journal ArticleDOI
Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia
TL;DR: The findings confirm the progressive nature including caudate nucleus atrophy in PCH1B and PCH2A, and in MICPCH, the relative sparing of supratentorial structures confirms its different pathomechanism.