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Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations
TLDR
The use of whole-exome sequencing is demonstrated to overcome obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
TLDR
Six different mutations are identified in the MFSD8 gene (previously denoted "MGC33302"), which encodes a novel polytopic 518-amino acid membrane protein that belongs to the major facilitator superfamily of transporter proteins that is expressed ubiquitously, with several alternatively spliced variants.
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
TLDR
A syndrome of congenital microcephaly and diverse defects in cerebral cortical architecture is described and important roles for WDR62, a WD40 repeat–containing protein expressed in neuronal precursors as well as in postmitotic neurons in the developing brain, are supported.
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
TLDR
A previously unknown autosomal recessive disease characterized by microcephaly, early-onset, intractable seizures and developmental delay (denoted MCSZ) is described and multiple mutations in PNKP (polynucleotide kinase 3′-phosphatase) that result in severe neurological disease are identified.
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
TLDR
Comparative genetic analysis of AHI1 indicates that it has undergone positive evolutionary selection along the human lineage, and changes in A HI1 may have been important in the evolution of human-specific motor behaviors.
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).
TLDR
The findings suggest that Lafora disease results from the mutational inactivation of a PTPase activity that may be important in the control of glycogen metabolism.
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
TLDR
The identification of a gene for l-2-HGA aciduria is reported using homozygosity mapping and it is proposed to name the gene duranin, which encodes a putative mitochondrial protein with homology to FAD-dependent oxidoreductases.
Willingness to participate in clinical treatment research among older African Americans and Whites.
TLDR
Race differences in factors predictive of the behavioral intention of older persons to participate in a clinical treatment trial should they have a diagnosis of cancer are examined to suggest that recruitment strategies need to be tailored to racial differences affecting willingness to participate, particularly those related to age and income level.
Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.
TLDR
Clinical picture of NCL in advanced stages of the disease was similar regardless of the subtype, and images of brainstem involvement, especially pons, and cerebellar atrophy in patients with Turkish variant showed a slower course compared to late infantile NCL.
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