Katherine B. Sims, MD
Director, Developmental Neurogenetics Clinic
Associate Professor of Neurology, HMS


Reference List

Norrie Disease

Sims KB, de la Chapelle A, Norio R, Sankila EM, Hsu Y-PP, Rinehart WB, Corey TJ, Oxelius L, Powell JF, Bruns G, Gusella JF, Murphy DL, Breakefield XO.  Monoamine oxidase deficiency in males with an X chromosomal deletion.  Neuron 1989; 2:1069-1076.

Sims KB,Lebo RV,Benson G,Shalish C,Schuback D,Chen ZY,Bruns G, Craig IW,Golbus MS,Breakefield XO.The Norrie disease gene maps 150 kb region on chromosome Xp11.3.Hum MolGen1992;1:83-89.

Chen Z-Y, Hendriks RW, Jobling MA, Powell JF, Monaco A, Breakfield XO, Sims KB, Craig IW. Isolation and characterisation of a gene implicated in Norrie disease.  Nature Genet 1992; 1:204-208.

Sims KB NDP-Related Retinopathies in: GeneReviews at GeneTests: Medical Genetics Information Resource:  University of Washington, Seattle. 1997-2006  http://ww.geneclinics.org, (updated August 2006)

Sims KB, Williams RS.  The human amygdaloid complex:  A cytological and histochemical atlas using Nissl, myelin, acetylcholinesterase (AChE) and nicotinamide adenine dinucleotide phosphate diaphorase (NADPH-d) staining.  Neuroscience 1990; 36:449-472.

Sims KB, Caviness VS.  Molecular genetics and mental retardation. In: Molecular Genetic Approaches to Neuropsychiatric Diseases. SanDiego CA: Academic Press 1991.

Sims KB, Holtzman D. Diseases of adenosine triphosphate synthesis in children.  Current Opinions in Neurology, 2002,; 15:145-150.

Nagagopal V, Sims KB, Grant PE.  Case 26-2006: A 19-Year-Old Woman with Difficulty Walking [Dopa-Responsive Dystonia]. N Engl J Med 2006; 355:831-839.

Jansen A, D'Agostino D, Badhwar A, Sancak O, Andermann F, Dubeau F, Kwiatkowski D, Sims K, Thiele E, Pandolfo M, Andermann E. Mild form of Tuberous Sclerosis Complex is associated with TSC2 R905Q mutation. Annals of Neurology. 2006, in press

Andersen PM, Sims KB, Xin WW, Kiely R, O’Neill G, Ravits J, Pioro E, Vriesendorp FJ, Harati Y, Brower RD, Levine J, Seltzer W, Boss M, Brown RH.  Eleven novel CuZn-SOD mutations in ALS, Brain 2003; 4:1-12.

Gregory SA, MacRae CA, Aziz K, Sims KB, Schmahmann JD, Kardan A, Morss AM, Ellinor PT, Tawakol A, Fischman AJ, Gewirtz H. Myocardial blood flow and oxygen consumption in patients with Friedreichs ataxia prior to the onset of cardiopmyopathy. Coronary Artery Disease 2006, in press.

Jaynes M, Gutmann L, Schochet SS, Sims KB, Sleat DE, Gal A, Bruck W, Goebel HH. Adult neuronal ceroid-lipofuscinosis. Acta Neuropathologica 2006, in press.


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