Affiliation: Cincinnati Children's Hospital Medical Center
- Atypical variants of nonketotic hyperglycinemiaArgirios Dinopoulos
Cincinnati Children s Hospital Medical Center, Division of Neurology, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
Mol Genet Metab 86:61-9. 2005..Identification of more mutations causing atypical NKH and information about the mutations' effect on enzyme activity may help to predict patients with a milder phenotype as well as those who may respond to early therapeutic intervention...
- Brain MRI and proton MRS findings in infants and children with respiratory chain defectsA Dinopoulos
Cincinnati Children s Hospital Medical Center, Division of Neurology, Cincinnati, Ohio 45229 3039, USA
Neuropediatrics 36:290-301. 2005....
- Rapamycin causes regression of astrocytomas in tuberous sclerosis complexDavid Neal Franz
Department of Pediatrics, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229 3039, USA
Ann Neurol 59:490-8. 2006..We sought to see whether therapy with oral rapamycin could affect growth or induce regression in astrocytomas associated with TSC...
- Reversible MR imaging and MR spectroscopy abnormalities in association with metronidazole therapyKim M Cecil
Department of Radiology MLC 5031, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
J Comput Assist Tomogr 26:948-51. 2002..Proton MRS examination demonstrated a persistent lactate elevation during metronidazole treatment. Clinical, spectroscopic, and imaging abnormalities resolved with discontinuation of metronidazole...
- Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature reviewLili Miles
Division of Pathology and Laboratory Medicine, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
Pediatr Dev Pathol 12:180-6. 2009..597+1G>A), the 1st leading to deletion of amino acids 60 to 89 and the 2nd to deletion of amino acids 194 to 199. Fine uniform vacuolation of white matter with wide separation of myelinated axons is the hallmark of MLC in early childhood...
- Unusual features of mitochondrial degeneration in skeletal muscle of patients with nuclear complex I mutationArgirios Dinopoulos
Acta Neuropathol 110:199-202. 2005
- MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeetIlja Boor
Department of Pediatrics Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
Acta Neuropathol 114:403-10. 2007..We demonstrated a direct protein interaction between MLC1 and Kir4.1. From these results we conclude that MLC1 is associated with the DGC at astrocytic endfeet...