Publications

  1. Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araujo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab. 2014 Jan; 111(1):16-25. Epub 2013 Nov 7
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  2. Tillema JM, Renaud D, Keegan BM. A CNS multifocal disease: Important diagnostic considerations regarding multiple sclerosis. Multiple Sclerosis and Related Disorders. 2014; 3(3):402-7.
  3. Clardy SL, Lennon VA, Dalmau J, Pittock SJ, Jones HR Jr, Renaud DL, Harper CM Jr, Matsumoto JY, McKeon A. Childhood onset of stiff-man syndrome. JAMA Neurol. 2013 Dec; 70(12):1531-6.
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  4. Stenerson M, Renaud D, Dufendach K, Swain J, Zarroug A, Homme J, Kumar S. Recurrent Wernicke encephalopathy in an adolescent female following laparoscopic gastric bypass surgery. Clin Pediatr (Phila). 2013 Nov; 52(11):1067-9. Epub 2013 Apr 03.
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  5. Broomall E, Renaud D, Ghadban R, Gavrilova R, Brodsky MC. Peripapillary chorioretinal lacunae in a girl with 3q21.3 to 3q22.1 microdeletion with features of Aicardi syndrome. JAMA Ophthalmol. 2013 Nov; 131(11):1485-7.
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  6. Comeaux MS, Wang J, Wang G, Kleppe S, Zhang VW, Schmitt ES, Craigen WJ, Renaud D, Sun Q, Wong LJ. Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. Mol Genet Metab. 2013 Jul; 109(3):260-8. Epub 2013 Apr 17.
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  7. Monrad P, Renaud DL. Typical clinical findings should prompt investigation for juvenile Huntington disease. Pediatr Neurol. 2013 Apr; 48(4):333-4.
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  8. Renaud DL. Leukoencephalopathies associated with macrocephaly. Semin Neurol. 2012 Feb; 32(1):34-41. Epub 2012 Mar 15.
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  9. Renaud DL. Lysosomal disorders associated with leukoencephalopathy. Semin Neurol. 2012 Feb; 32(1):51-4. Epub 2012 Mar 15.
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  10. Tillema JM, Renaud DL. Leukoencephalopathies in adulthood. Semin Neurol. 2012 Feb; 32(1):85-94. Epub 2012 Mar 15.
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  11. Renaud DL. Clinical approach to leukoencephalopathies. Semin Neurol. 2012 Feb; 32(1):29-33.
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  12. Dhamija R, Renaud DL, Pittock SJ, McKeon A, Lachance DH, Nickels KC, Wirrell EC, Kuntz NL, King MD, Lennon VA. Neuronal voltage-gated potassium channel complex autoimmunity in children. Pediatr Neurol. 2011 Apr; 44(4):275-81.
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  13. Monrad P, Renaud DL. Severe spinal cord atrophy associated with spastic paraparesis. Pediatr Neurol. 2011 Jan; 44(1):75-7.
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  14. Wong-Kisiel LC, Ji T, Renaud DL, Kotagal S, Patterson MC, Dalmau J, Mack KJ. Response to immunotherapy in a 20-month-old boy with anti-NMDA receptor encephalitis. Neurology. 2010 May 11; 74(19):1550-1.
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  15. Barger AV, Campeau NG, Port JD, Renaud DL. MRS is the test of choice for detecting and monitoring disorders of creatine metabolism. Pediatr Neurol. 2009 May; 40(5):408-10.
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  16. Matarese CA, Renaud DL. Classical (type I) lissencephaly and Miller-Dieker syndrome. Pediatr Neurol. 2009 Apr; 40(4):324-5.
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  17. Renaud DL, Khan S. Development of a multidisciplinary programme for the treatment of X-linked adrenoleukodystrophy. Paediatr. Child Health (CAN) 2009; 19(Suppl 2):S217-9.
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  18. Matarese CA, Renaud DL. Magnetic resonance imaging findings in Alexander disease. Pediatr Neurol. 2008 May; 38(5):373-4.
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  19. Wong-Kisiel LC, Renaud DL, Kotagal S, Collins DA. Single-photon emission computed tomography in a child with recurrent alternating hemiplegia and quadriplegia. Pediatr Neurol. 2008 Mar; 38(3):221-2.
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  20. Maletkovic J, Schiffmann R, Gorospe JR, Gordon ES, Mintz M, Hoffman EP, Alper G, Lynch DR, Singhal BS, Harding C, Amartino H, Brown CM, Chan A, Renaud D, Geraghty M, Jensen L, Senbil N, Kadom N, Nazarian J, Yuanjian Feng, Zuyi Wang, Hartka T, Morizono H, Genetic and clinical heterogeneity in eIF2B-related disorder. J Child Neurol. 2008 Feb; 23(2):205-15.
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  21. Hartman GH, Renaud DL, Sundaram M, Reed AM. Spondyloarthropathy presenting at a young age: case report and review. Skeletal Radiol. 2007 Feb; 36(2):161-4. Epub 2006 May 20.
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  22. Renaud DL, Kotagal S. Pantothenate-kinase associated neurodegeneration (PKAN) "Eye of the tiger" sign. Pediatr Neurol. 2007 Jan; 36(1):70-1.
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  23. Lehwald LM, Renaud DL, Campeau NG, Babovic-Vuksanovic D. Novel LMNA mutation in a patient with progeroid phenotype. J Pediatr Neurol. 2007; 5(2):143-8.
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  24. Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH. Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. Am J Med Genet A. 2006 Jul 15; 140(14):1542-52.
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  25. Laird PW, Mohney BG, Renaud DL. Bull's-eye maculopathy in an infant with Leigh disease. Am J Ophthalmol. 2006 Jul; 142(1):186-7.
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  26. Mahmud FH, Lteif AN, Renaud DL, Reed AM, Brands CK. Steroid-responsive encephalopathy associated with Hashimoto's thyroiditis in an adolescent with chronic hallucinations and depression: case report and review. Pediatrics. 2003 Sep; 112(3 Pt 1):686-90.
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  27. Renaud DL, Edwards V, Wilson GJ, Tein I. Glucose-free medium exacerbates microvesicular steatosis in cultured skin fibroblasts of genetic defects of fatty acid oxidation. A novel screening test. J Inherit Metab Dis. 2002 Nov; 25(7):547-55.
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  28. Sazgar M, Leonard NJ, Renaud DL, Bhargava R, Sinclair DB. Intracranial calcification, retinopathy, and osteopenia: a new syndrome? Pediatr Neurol. 2002 Apr; 26(4):324-8.
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  29. Dayan RM, Renaud DL. Early-onset lysosomal glycogen storage disease with normal acid maltase. J Inherit Metab Dis. 2001 Aug; 24(4):504-6.
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  30. Renaud DL, Nichol H, Locke M. The visualization of apoferritin in the secretory pathway of vertebrate liver cells. J Submicrosc Cytol Pathol. 1991 Oct; 23(4):501-7.
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