Lake BD - Search Results

1

A murine model for juvenile NCL: gene targeting of mouse Cln3.

Greene ND, Bernard DL, Taschner PE, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM. Greene ND, et al. Among authors: lake bd. Mol Genet Metab. 1999 Apr;66(4):309-13. doi: 10.1006/mgme.1999.2828. Mol Genet Metab. 1999. PMID: 10191119

2

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM. Mitchison HM, et al. Among authors: lake bd. Hum Mol Genet. 1998 Feb;7(2):291-7. doi: 10.1093/hmg/7.2.291. Hum Mol Genet. 1998. PMID: 9425237

3

Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23.

Sharp JD, Wheeler RB, Lake BD, Fox M, Gardiner RM, Williams RE. Sharp JD, et al. Among authors: lake bd. Mol Genet Metab. 1999 Apr;66(4):329-31. doi: 10.1006/mgme.1999.2806. Mol Genet Metab. 1999. PMID: 10191123

4

A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.

Wheeler RB, Sharp JD, Mitchell WA, Bate SL, Williams RE, Lake BD, Gardiner RM. Wheeler RB, et al. Among authors: lake bd. Mol Genet Metab. 1999 Apr;66(4):337-8. doi: 10.1006/mgme.1999.2804. Mol Genet Metab. 1999. PMID: 10191125

5

Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected].

Mitchison HM, Bernard DJ, Greene ND, Cooper JD, Junaid MA, Pullarkat RK, de Vos N, Breuning MH, Owens JW, Mobley WC, Gardiner RM, Lake BD, Taschner PE, Nussbaum RL. Mitchison HM, et al. Among authors: lake bd. Neurobiol Dis. 1999 Oct;6(5):321-34. doi: 10.1006/nbdi.1999.0267. Neurobiol Dis. 1999. PMID: 10527801

6

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

Sharp JD, Wheeler RB, Lake BD, Savukoski M, Järvelä IE, Peltonen L, Gardiner RM, Williams RE. Sharp JD, et al. Among authors: lake bd. Hum Mol Genet. 1997 Apr;6(4):591-5. doi: 10.1093/hmg/6.4.591. Hum Mol Genet. 1997. PMID: 9097964

7

Ultrastructural and electrophysiological correlation of the genotypes of NCL.

Williams RE, Boyd S, Lake BD. Williams RE, et al. Among authors: lake bd. Mol Genet Metab. 1999 Apr;66(4):398-400. doi: 10.1006/mgme.1999.2807. Mol Genet Metab. 1999. PMID: 10191136

8

Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non-invasive diagnosis of mitochondrial myopathy.

Poulton J, Deadman ME, Turnbull DM, Lake B, Gardiner RM. Poulton J, et al. Clin Genet. 1991 Jan;39(1):33-8. doi: 10.1111/j.1399-0004.1991.tb02982.x. Clin Genet. 1991. PMID: 1997213

9

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

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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