Munroe PB - Search Results

1

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: munroe pb. Hum Mol Genet. 1998 Feb;7(2):291-7. doi: 10.1093/hmg/7.2.291. Hum Mol Genet. 1998. PMID: 9425237

2

Analysis of Batten disease candidate genes STP and STM.

Munroe PB, Mitchison HM, Dooley TP, Gardiner RM, Mole SE. Munroe PB, et al. Am J Med Genet. 1995 Jun 5;57(2):324-6. doi: 10.1002/ajmg.1320570244. Am J Med Genet. 1995. PMID: 7668356

3

Genomic organization and DNA sequence of the human catecholamine-sulfating phenol sulfotransferase gene (STM).

Dooley TP, Probst P, Munroe PB, Mole SE, Liu Z, Doggett NA. Dooley TP, et al. Among authors: munroe pb. Biochem Biophys Res Commun. 1994 Dec 15;205(2):1325-32. doi: 10.1006/bbrc.1994.2810. Biochem Biophys Res Commun. 1994. PMID: 7802665

4

Mapping of two phenol sulphotransferase genes, STP and STM, to 16p: candidate genes for Batten disease.

Dooley TP, Mitchison HM, Munroe PB, Probst P, Neal M, Siciliano MJ, Deng Z, Doggett NA, Callen DF, Gardiner RM, et al. Dooley TP, et al. Among authors: munroe pb. Biochem Biophys Res Commun. 1994 Nov 30;205(1):482-9. doi: 10.1006/bbrc.1994.2691. Biochem Biophys Res Commun. 1994. PMID: 7999068

5

Prenatal diagnosis of Batten's disease.

Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Jarvela I. Munroe PB, et al. Lancet. 1996 Apr 13;347(9007):1014-5. doi: 10.1016/s0140-6736(96)90148-8. Lancet. 1996. PMID: 8606564

6

YAC and cosmid contigs spanning the Batten disease (CLN3) region at 16p12.1-p11.2.

Järvelä IE, Mitchison HM, O'Rawe AM, Munroe PB, Taschner PE, de Vos N, Lerner TJ, D'Arigo KL, Callen DF, Thompson AD, et al. Järvelä IE, et al. Among authors: munroe pb. Genomics. 1995 Sep 20;29(2):478-89. doi: 10.1006/geno.1995.9978. Genomics. 1995. PMID: 8666398

7

A model for Batten disease protein CLN3: functional implications from homology and mutations.

Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE, Wallace BA. Janes RW, et al. Among authors: munroe pb. FEBS Lett. 1996 Dec 9;399(1-2):75-7. doi: 10.1016/s0014-5793(96)01290-2. FEBS Lett. 1996. PMID: 8980123 Free article.

8

Rapid diagnostic test for the major mutation underlying Batten disease.

Järvelä I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvänen AC. Järvelä I, et al. Among authors: munroe pb. J Med Genet. 1996 Dec;33(12):1041-2. doi: 10.1136/jmg.33.12.1041. J Med Genet. 1996. PMID: 9004140 Free PMC article.

9

Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3.

Mitchison HM, Munroe PB, O'Rawe AM, Taschner PE, de Vos N, Kremmidiotis G, Lensink I, Munk AC, D'Arigo KL, Anderson JW, Lerner TJ, Moyzis RK, Callen DF, Breuning MH, Doggett NA, Gardiner RM, Mole SE. Mitchison HM, et al. Among authors: munroe pb. Genomics. 1997 Mar 1;40(2):346-50. doi: 10.1006/geno.1996.4576. Genomics. 1997. PMID: 9119403

10

Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein.

Mitchison HM, Taschner PE, Kremmidiotis G, Callen DF, Doggett NA, Lerner TJ, Janes RB, Wallace BA, Munroe PB, O'Rawe AM, Gardiner RM, Mole SE. Mitchison HM, et al. Among authors: munroe pb. Neuropediatrics. 1997 Feb;28(1):12-4. doi: 10.1055/s-2007-973656. Neuropediatrics. 1997. PMID: 9151311

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