Lake BD - Search Results

1

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.

Rahman S, Taanman JW, Cooper JM, Nelson I, Hargreaves I, Meunier B, Hanna MG, García JJ, Capaldi RA, Lake BD, Leonard JV, Schapira AH. Rahman S, et al. Among authors: lake bd. Am J Hum Genet. 1999 Oct;65(4):1030-9. doi: 10.1086/302590. Am J Hum Genet. 1999. PMID: 10486321 Free PMC article.

2

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms.

Rahman S, Lake BD, Taanman JW, Hanna MG, Cooper JM, Schapira AH, Leonard JV. Rahman S, et al. Among authors: lake bd. Brain. 2000 Mar;123 Pt 3:591-600. doi: 10.1093/brain/123.3.591. Brain. 2000. PMID: 10686181

3

Liver failure associated with mitochondrial DNA depletion.

Morris AA, Taanman JW, Blake J, Cooper JM, Lake BD, Malone M, Love S, Clayton PT, Leonard JV, Schapira AH. Morris AA, et al. Among authors: lake bd. J Hepatol. 1998 Apr;28(4):556-63. doi: 10.1016/s0168-8278(98)80278-x. J Hepatol. 1998. PMID: 9566823

4

A new point mutation associated with mitochondrial encephalomyopathy.

Morten KJ, Cooper JM, Brown GK, Lake BD, Pike D, Poulton J. Morten KJ, et al. Among authors: lake bd. Hum Mol Genet. 1993 Dec;2(12):2081-7. doi: 10.1093/hmg/2.12.2081. Hum Mol Genet. 1993. PMID: 8111377

5

Deficiency of respiratory chain complex I is a common cause of Leigh disease.

Morris AA, Leonard JV, Brown GK, Bidouki SK, Bindoff LA, Woodward CE, Harding AE, Lake BD, Harding BN, Farrell MA, Bell JE, Mirakhur M, Turnbull DM. Morris AA, et al. Among authors: lake bd. Ann Neurol. 1996 Jul;40(1):25-30. doi: 10.1002/ana.410400107. Ann Neurol. 1996. PMID: 8687187

6

Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency.

Morris AA, Lascelles CV, Olpin SE, Lake BD, Leonard JV, Quant PA. Morris AA, et al. Among authors: lake bd. Pediatr Res. 1998 Sep;44(3):392-6. doi: 10.1203/00006450-199809000-00021. Pediatr Res. 1998. PMID: 9727719

7

Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings.

Nashef L, Lake BD, Schapira AH. Nashef L, et al. Among authors: lake bd. J Neurol Neurosurg Psychiatry. 1997 Mar;62(3):279-81. doi: 10.1136/jnnp.62.3.279. J Neurol Neurosurg Psychiatry. 1997. PMID: 9069486 Free PMC article.

8

Late-infantile Batten disease: purification of the subunit c of the mitochondrial ATP synthase from storage material.

Hagopian K, Lake BD, Winchester BG, Clark JB. Hagopian K, et al. Among authors: lake bd. Am J Med Genet. 1995 Jun 5;57(2):272-8. doi: 10.1002/ajmg.1320570232. Am J Med Genet. 1995. PMID: 7668344

9

Ultrastructure of liver in inherited disorders of fat oxidation.

Lake BD, Clayton PT, Leonard JV, Bhuiyan AK, Bartlett K, Green AA. Lake BD, et al. Lancet. 1987 Feb 14;1(8529):382-3. doi: 10.1016/s0140-6736(87)91752-1. Lancet. 1987. PMID: 2880182 No abstract available.

10

Tissue and cellular distribution of subunit c of ATP synthase in Batten disease (neuronal ceroid-lipofuscinosis).

Rowan SA, Lake BD. Rowan SA, et al. Among authors: lake bd. Am J Med Genet. 1995 Jun 5;57(2):172-6. doi: 10.1002/ajmg.1320570213. Am J Med Genet. 1995. PMID: 7668325

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