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Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M, Lehesjoki AE, Mole SE. Kousi M, et al. Among authors: mole se. Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Hum Mutat. 2012. PMID: 21990111 Review.
Phenol sulfotransferases: candidate genes for Batten disease.
Dooley TP, Probst P, Obermoeller RD, Siciliano MJ, Doggett NA, Callen DF, Mitchison HM, Mole SE. Dooley TP, et al. Among authors: mole se. Am J Med Genet. 1995 Jun 5;57(2):327-32. doi: 10.1002/ajmg.1320570245. Am J Med Genet. 1995. PMID: 7668357 Review.
Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).
Taschner PE, de Vos N, Thompson AD, Callen DF, Doggett N, Mole SE, Dooley TP, Barth PG, Breuning MH. Taschner PE, et al. Among authors: mole se. Am J Hum Genet. 1995 Mar;56(3):663-8. Am J Hum Genet. 1995. PMID: 7887420 Free PMC article.
Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses.
Mole SE. Mole SE. J Inherit Metab Dis. 1996;19(3):269-74. doi: 10.1007/BF01799253. J Inherit Metab Dis. 1996. PMID: 8803767
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: mole se. 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.
Strategy for mutation detection in CLN3: characterisation of two Finnish mutations.
Munroe PB, O'Rawe AM, Mitchison HM, Järvelä IE, Santavuori P, Lerner TJ, Taschner PE, Gardiner RM, Mole SE. Munroe PB, et al. Among authors: mole se. Neuropediatrics. 1997 Feb;28(1):15-7. doi: 10.1055/s-2007-973657. Neuropediatrics. 1997. PMID: 9151312
Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
O'Rawe A, Mitchison HM, Williams R, Wheeler R, Andermann E, Andermann F, Hart YM, Martin JJ, Philippart M, Stephenson JB, Gardiner RM, Mole SE. O'Rawe A, et al. Among authors: mole se. Neuropediatrics. 1997 Feb;28(1):21-2. doi: 10.1055/s-2007-973659. Neuropediatrics. 1997. PMID: 9151314
Spectrum of mutations in the Batten disease gene, CLN3.
Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE. Munroe PB, et al. Among authors: mole se. Am J Hum Genet. 1997 Aug;61(2):310-6. doi: 10.1086/514846. Am J Hum Genet. 1997. PMID: 9311735 Free PMC article.
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: mole se. Hum Mol Genet. 1998 Feb;7(2):291-7. doi: 10.1093/hmg/7.2.291. Hum Mol Genet. 1998. PMID: 9425237
Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.
Munroe PB, Greene ND, Leung KY, Mole SE, Gardiner RM, Mitchison HM, Stephenson JB, Crow YJ. Munroe PB, et al. Among authors: mole se. J Med Genet. 1998 Sep;35(9):790. doi: 10.1136/jmg.35.9.790. J Med Genet. 1998. PMID: 9733046 Free PMC article. No abstract available.
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