Affiliation: University of California
- Cortical dysplasia with prominent Rosenthal fiber formation in a case of intractable pediatric epilepsyNegar Khanlou
Department of Pathology and Laboratory Medicine Neuropathology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, CA 90095 1732, USA
Hum Pathol 40:1200-4. 2009..This case is unique among several hundred cortical resection specimens that we have studied, including numerous cases of severe cortical dysplasia...
- Brain biopsy in neurologic decline of unknown etiologyShino Magaki
Section of Neuropathology, Department of Pathology and Laboratory Medicine, University of California, Los Angeles UCLA Medical Center, Los Angeles, CA 90095 1732, USA Electronic address
Hum Pathol 46:499-506. 2015..These results suggest that brain biopsies may be useful in difficult cases in which less invasive measures have been unable to yield a definitive diagnosis. ..
- Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletionAshlee R Stiles
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at University of California Los Angeles, CA 90095, USA UCLA Clinical Genomics Center, Los Angeles, CA 90095, USA
Mol Genet Metab 119:91-9. 2016..Tfam knockout mice display embryonic lethality secondary to severe mtDNA depletion. In this report, for the first time, we associate a homozygous variant in TFAM with a novel mtDNA depletion syndrome. ..
- Hemangiopericytoma of the cerebellopontine angle: a case report and review of the literatureVartan S Tashjian
Division of Neurosurgery, David Geffen School of Medicine at UCLA, NPI, Box 957039, Los Angeles, CA 90095 7039, USA
Surg Neurol 72:290-5. 2009..The case is described; and a review of the literature pertaining to the diagnosis, optimal management, and follow-up for these lesions is provided...