Lu Liu

Summary

Publications

  1. ncbi request reprint Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3
    T M Bosley
    Neuro Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Neurology 64:1196-203. 2005
  2. pmc A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    BMC Med Genet 11:135. 2010
  3. ncbi request reprint Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy
    Thomas M Bosley
    Neuro Ophthalmology Division, King Faisal Specialist Hospital, Riyadh, Saudi Arabia
    Neurology 63:1305-8. 2004
  4. pmc Clinical characterization of the HOXA1 syndrome BSAS variant
    T M Bosley
    Neuro Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Neurology 69:1245-53. 2007
  5. pmc Molecular and neurological characterizations of three Saudi families with lipoid proteinosis
    Mustafa A Salih
    Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    BMC Med Genet 12:31. 2011
  6. ncbi request reprint Giant cell arteritis in Saudi Arabia
    T M Bosley
    The Neuro ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Int Ophthalmol 22:59-60. 1998
  7. doi request reprint The role of mitochondrial haplogroups in non-arteritic anterior ischemic optic neuropathy
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Ophthalmic Genet 29:111-6. 2008
  8. ncbi request reprint Mitochondrial changes in leukocytes of patients with optic neuritis
    Thomas M Bosley
    Neuroscience Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Mol Vis 13:1516-28. 2007
  9. ncbi request reprint Nuclear and mitochondrial analysis of patients with primary angle-closure glaucoma
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Invest Ophthalmol Vis Sci 48:5591-6. 2007
  10. doi request reprint Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalities
    Thomas M Bosley
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Invest Ophthalmol Vis Sci 49:5250-6. 2008

Collaborators

Detail Information

Publications24

  1. ncbi request reprint Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3
    T M Bosley
    Neuro Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Neurology 64:1196-203. 2005
    ....
  2. pmc A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    BMC Med Genet 11:135. 2010
    ..Previous studies focusing on candidate genes and chromosomal regions identified several copy number variations (CNVs) associated with increased risk of autism or autism spectrum disorders (ASD)...
  3. ncbi request reprint Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy
    Thomas M Bosley
    Neuro Ophthalmology Division, King Faisal Specialist Hospital, Riyadh, Saudi Arabia
    Neurology 63:1305-8. 2004
    ..001). Twelve of these (11 novel) were potentially pathologic, nine of which altered moderately or highly conserved amino acids in the functional domain of the affected protein. Mitochondrial malfunction may be a risk factor for NAION...
  4. pmc Clinical characterization of the HOXA1 syndrome BSAS variant
    T M Bosley
    Neuro Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Neurology 69:1245-53. 2007
    ..We describe the currently recognized spectrum of ocular motility, inner ear malformations, cerebrovascular anomalies, and cognitive function...
  5. pmc Molecular and neurological characterizations of three Saudi families with lipoid proteinosis
    Mustafa A Salih
    Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    BMC Med Genet 12:31. 2011
    ..We report the neurologic and neuroradiologic characteristics and ECM1 gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families...
  6. ncbi request reprint Giant cell arteritis in Saudi Arabia
    T M Bosley
    The Neuro ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Int Ophthalmol 22:59-60. 1998
    ..To obtain information about the incidence of giant cell arteritis in Saudi Arabia...
  7. doi request reprint The role of mitochondrial haplogroups in non-arteritic anterior ischemic optic neuropathy
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Ophthalmic Genet 29:111-6. 2008
    ..To investigate a possible association between mitochondrial haplogroups and non-arteritic anterior ischemic optic neuropathy (NAION)...
  8. ncbi request reprint Mitochondrial changes in leukocytes of patients with optic neuritis
    Thomas M Bosley
    Neuroscience Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Mol Vis 13:1516-28. 2007
    ..We evaluated patients with optic neuritis for evidence of systemic mitochondrial abnormalities...
  9. ncbi request reprint Nuclear and mitochondrial analysis of patients with primary angle-closure glaucoma
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Invest Ophthalmol Vis Sci 48:5591-6. 2007
    ..In this study, patients with primary angle-closure glaucoma (PACG) were examined for mutations in nuclear genes reported to be associated with glaucoma and for possible mitochondrial abnormalities...
  10. doi request reprint Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalities
    Thomas M Bosley
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Invest Ophthalmol Vis Sci 49:5250-6. 2008
    ..To evaluate a group of patients with isolated, early-onset, bilateral optic neuropathy for genetic and biochemical evidence of mitochondrial diseases...
  11. doi request reprint Genome-wide expression profile of LHON patients with the 11778 mutation
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Br J Ophthalmol 94:256-9. 2010
    ..To obtain a whole genome-expression profile in Leber hereditary optic neuropathy (LHON), patients with the 11,778 mitochondrial DNA mutation...
  12. pmc Eurasian and African mitochondrial DNA influences in the Saudi Arabian population
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    BMC Evol Biol 7:32. 2007
    ..A phylogeny of the most abundant haplogroup (preHV)1 (R0a) was constructed based on 13 whole mtDNA genomes...
  13. ncbi request reprint Mitochondrial abnormalities in patients with primary open-angle glaucoma
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory of the Genetics Department, King Fasail Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Invest Ophthalmol Vis Sci 47:2533-41. 2006
    ..The pathologic mechanism(s) of POAG remain unknown but may include retinal ganglion cell apoptosis, which causes progressive damage to axons at the optic nerve head...
  14. pmc Analysis of nuclear and mitochondrial genes in patients with pseudoexfoliation glaucoma
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Mol Vis 14:29-36. 2008
    ..Pseudoexfoliation glaucoma (PEG) is the most prevalent secondary open angle glaucoma occurring worldwide. The search for a genetic cause in PEG has been largely unsuccessful despite evidence of hereditary transmission...
  15. doi request reprint Exceptions to the Valsalva doctrine
    Henry S Schutta
    Ophthalmology Department, King Saud University, PO Box 245, Riyadh 11411, Saudi Arabia
    Neurology 74:329-35. 2010
    ..However, we still do not understand why decussation occurs...
  16. pmc Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
    Joanna C Jen
    Department of Neurology, University of California, Los Angeles, CA 90095, USA
    Science 304:1509-13. 2004
    ..Like its murine homolog Rig1/Robo3, but unlike other Robo proteins, ROBO3 is required for hindbrain axon midline crossing...
  17. pmc The clinical spectrum of homozygous HOXA1 mutations
    Thomas M Bosley
    The Neuro ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Am J Med Genet A 146:1235-40. 2008
    ..These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum...
  18. ncbi request reprint Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
    Max A Tischfield
    Department of Medicine, Program in Genomics, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Nat Genet 37:1035-7. 2005
    ..This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system...
  19. pmc Mitochondrial DNA abnormalities in NAION
    Khaled K Abu-Amero
    Br J Ophthalmol 91:1561. 2007
  20. ncbi request reprint Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)
    Koki Yamada
    Department of Genetics, Children s Hospital, and Harvard Medical School, Boston, Massachusetts 02115, USA
    Invest Ophthalmol Vis Sci 45:2218-23. 2004
    ..This study was conducted to determine the incidence of KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3...
  21. ncbi request reprint Mitochondrial T9957C mutation in association with NAION and seizures but not MELAS
    Khaled K Abu-Amero
    Department of Genetics, King Faisal Specialist Hospital and Research Centre MBC 03, P O Box 3354, Riyadh 11211, Saudi Arabia
    Ophthalmic Genet 26:31-6. 2005
    ..This nt-9957 mutation has been previously reported in association with mitochondrial encephalopathy, lactic acidosis, and stroke-like events (MELAS)...
  22. ncbi request reprint Mitochondrial abnormalities in patients with LHON-like optic neuropathies
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Department of Genetics, Riyadh, Kingdom of Saudi Arabia
    Invest Ophthalmol Vis Sci 47:4211-20. 2006
    ..To investigate certain biochemical and molecular characteristics of mitochondria in patients with Leber hereditary optic neuropathy (LHON)-like optic neuropathies...
  23. ncbi request reprint Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A
    Thomas M Bosley
    Neuro Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Brain 129:2363-74. 2006
    ..Clinical presentation, neuroimaging and Phox2a-/- animal models all support the concept that CFEOM2 is a primary neurogenic abnormality with secondary myopathic changes...
  24. ncbi request reprint Reassessment of the pathologic significance of the 9438 mitochondrial DNA mutation associated with LHON
    Khaled K Abu-Amero
    Ophthalmic Genet 28:229-30. 2007