Results
author = "Verheijen, Frans W."
1
Found 7 documents, displaying page 1 of 1
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
Author(s) :
Valstar, Marlies J.
,
Bruggenwirth, Hennie T.
,
Olmer, Renske
,
Wevers, Ron A.
,
Verheijen, Frans W.
,
Poorthuis, Ben J.
Description :
Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal storage disorder caused by deficiency of the enzyme N-acetyl-α-D-glucosaminidase (NAGLU). Information on the natural course of MPS IIIB is scarce but much needed in view of emerging therapies. To improve knowledge ...
Repository :
Europe PubMed Central
Language(s) :
English
Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS
Author(s) :
van den Bosch, Jeroen
,
Oemardien, Linda F.
,
Srebniak, Malgorzata I.
,
Piraud, Monique
,
Huijmans, Jan G. M.
,
Verheijen, Frans W.
Description :
Sialic acid storage disease (SASD) is an inborn error resulting from defects in the lysosomal membrane protein sialin. The SASD phenotypical spectrum ranges from a severe presentation, infantile sialic acid storage disease (ISSD) which may present as hydrops fetalis, to a relatively mild form, Salla...
Repository :
Europe PubMed Central
Language(s) :
English
Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome
Author(s) :
Visser, W. Edward
,
Swagemakers, Sigrid M.A.
,
Őzgűr, Zeliha
,
Schot, Rachel
,
Verheijen, Frans W.
,
van Ijcken, Wilfred F.J.
Description :
Thyroid hormone (TH) is crucial for normal brain development. TH transporters control TH homeostasis in brain as evidenced by the complex endocrine and neurological phenotype of patients with mutations in monocarboxylate transporter 8 (MCT8). We investigated the mechanisms of disease by analyzing ge...
Repository :
Europe PubMed Central
Language(s) :
English
Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15)
Author(s) :
Zhao, Tianna
,
De Graaff, Esther
,
Breedveld, Guido J.
,
Loda, Agnese
,
Severijnen, Lies-Anne
,
Wouters, Cokkie H.
,
Verheijen, Frans W.
Description :
Mutations in the F-box only protein 7 gene (FBXO7) cause PARK15, an autosomal recessive neurodegenerative disease presenting with severe levodopa-responsive parkinsonism and pyramidal disturbances. Understanding the PARK15 pathogenesis might thus provide clues on the mechanisms of maintenance of bra...
Repository :
Europe PubMed Central
Language(s) :
English
Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy
Author(s) :
Verkerk, Annemieke J.M.H.
,
Schot, Rachel
,
Dumee, Belinda
,
Schellekens, Karlijn
,
Swagemakers, Sigrid
,
Bertoli-Avella, Aida M.
Description :
Cerebral palsy due to perinatal injury to cerebral white matter is usually not caused by genetic mutations, but by ischemia and/or inflammation. Here, we describe an autosomal-recessive type of tetraplegic cerebral palsy with mental retardation, reduction of cerebral white matter, and atrophy of the...
Repository :
Europe PubMed Central
Language(s) :
English
Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors
Author(s) :
Poulton, Cathryn J.
,
Schot, Rachel
,
Kia, Sima Kheradmand
,
Jones, Marta
,
Verheijen, Frans W.
,
Venselaar, Hanka
,
de Wit, Marie-Claire Y.
Description :
We describe a syndrome of primary microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes in two unrelated consanguineous families with at least three affected children. Linkage analysis revealed a region on chromoso...
Repository :
Europe PubMed Central
Language(s) :
English
RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex
Author(s) :
Kheradmand Kia, Sima
,
Verbeek, Elly
,
Engelen, Erik
,
Schot, Rachel
,
Poot, Raymond A.
,
de Coo, Irenaeus F.M.
,
Lequin, Maarten H.
Description :
Polymicrogyria is a malformation of the developing cerebral cortex caused by abnormal organization and characterized by many small gyri and fusion of the outer molecular layer. We have identified autosomal-recessive mutations in RTTN, encoding Rotatin, in individuals with bilateral diffuse polymicro...
Repository :
Europe PubMed Central
Language(s) :
English
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Found 7 documents, displaying page 1 of 1