Distribution of Neisseria meningitidis serogroup B serosubtypes and serotypes circulating in the United States
TONDELLA, M. L. C, POPOVIC, T, ROSENSTEIN, N. E, LAKE, D. B, CARLONE, G. M, MAYER, L. W, PERKINS, B. A
Published in Journal of clinical microbiology (01.09.2000)
Published in Journal of clinical microbiology (01.09.2000)
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Loci for Classical and a Variant Late Infantile Neuronal Ceroid Lipofuscinosis Map to Chromosomes 11p15 and 15q21–23
Sharp, J. D., Wheeler, R. B., Lake, B. D., Savukoski, M., Järvelä, I. E., Peltonen, L., Gardiner, R. M., Williams, R. E.
Published in Human molecular genetics (01.04.1997)
Published in Human molecular genetics (01.04.1997)
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Journal Article
Deficiency of respiratory chain complex I is a common cause of Leigh disease
Morris, A A, Leonard, J V, Brown, G K, Bidouki, S K, Bindoff, L A, Woodward, C E, Harding, A E, Lake, B D, Harding, B N, Farrell, M A, Bell, J E, Mirakhur, M, Turnbull, D M
Published in Annals of neurology (01.07.1996)
Published in Annals of neurology (01.07.1996)
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Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
MCGRATH, J. A, HOEGER, P. H, EADY, R. A. J, CHRISTIANO, A. M, MCMILLAN, J. R, MELLERIO, J. E, ASHTON, G. H. S, DOPPING-HEPENSTAL, P. J. C, LAKE, B. D, LEIGH, I. M, HARPER, J. I
Published in British journal of dermatology (1951) (01.02.1999)
Published in British journal of dermatology (1951) (01.02.1999)
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A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy
Rahman, Shamima, Taanman, Jan-Willem, Cooper, J. Mark, Nelson, Isabelle, Hargreaves, Ian, Meunier, Brigitte, Hanna, Michael G, García, José J., Capaldi, Roderick A., Lake, Brian D., Leonard, James V., Schapira, Anthony H.V.
Published in American journal of human genetics (01.10.1999)
Published in American journal of human genetics (01.10.1999)
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A new point mutation associated with mitochondrial encephalomyopathy
Morten, K J, Cooper, J M, Brown, G K, Lake, B D, Pike, D, Poulton, J
Published in Human molecular genetics (01.12.1993)
Published in Human molecular genetics (01.12.1993)
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Journal Article
Liver failure associated with mitochondrial DNA depletion
Morris, Andrew A.M., Taanman, Jan-Willem, Blake, Julian, Mark Cooper, J., Lake, Brian D., Malone, Marion, Love, Seth, Clayton, Peter T., Leonard, James V., Schapira, Anthony H.V.
Published in Journal of hepatology (01.04.1998)
Published in Journal of hepatology (01.04.1998)
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Mutations in the Palmitoyl-Protein Thioesterase Gene (PPT; CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits
Mitchison, Hannah M., Hofmann, Sandra L., Becerra, Carlos H. R., Munroe, Patricia B., Lake, Brian D., Crow, Yanick J., Stephenson, John B. P., Williams, Ruth E., Hofman, Irene L., Taschner, Peter E. M., Martin, Jean-Jacques, Philippart, Michel, Andermann, Eva, Andermann, Frederick, Mole, Sara E., Gardiner, R. Mark, O'Rawe, Angela M.
Published in Human molecular genetics (01.02.1998)
Published in Human molecular genetics (01.02.1998)
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Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease)
Bronson, R T, Lake, B D, Cook, S, Taylor, S, Davisson, M T
Published in Annals of neurology (01.04.1993)
Published in Annals of neurology (01.04.1993)
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Journal Article
Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)
Palmer, D N, Fearnley, I M, Walker, J E, Hall, N A, Lake, B D, Wolfe, L S, Haltia, M, Martinus, R D, Jolly, R D
Published in American journal of medical genetics (15.02.1992)
Published in American journal of medical genetics (15.02.1992)
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Journal Article
An adult with a non‐neuronopathic form of Niemann_Pick C disease
Fensom, A. H., Grant, A. R., Steinberg, S. J., Ward, C. P., Lake, B. D., Logan, E. C., Hulman, G.
Published in Journal of inherited metabolic disease (01.02.1999)
Published in Journal of inherited metabolic disease (01.02.1999)
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Journal Article
Gastric antral dysrhythmias in children with chronic idiopathic intestinal pseudoobstruction
Devane, S P, Ravelli, A M, Bisset, W M, Smith, V V, Lake, B D, Milla, P J
Published in Gut (01.11.1992)
Published in Gut (01.11.1992)
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