CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL
Xin, W, Mullen, T E, Kiely, R, Min, J, Feng, X, Cao, Y, O'Malley, L, Shen, Y, Chu-Shore, C, Mole, S E, Goebel, H H, Sims, K
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Published in Neurology (16.02.2010)
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Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses
Kohan, R, Cismondi, I A, Oller-Ramirez, A M, Guelbert, N, Anzolini, Tapia V, Alonso, G, Mole, S E, de Kremer, Dodelson R, de Halac, Noher I
Published in Current pharmaceutical biotechnology (01.06.2011)
Published in Current pharmaceutical biotechnology (01.06.2011)
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Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1
Ramadan, H, Al-Din, A S, Ismail, A, Balen, F, Varma, A, Twomey, A, Watts, R, Jackson, M, Anderson, G, Green, E, Mole, S E
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Published in Neurology (30.01.2007)
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A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset
Pineda-Trujillo, N, Cornejo, W, Carrizosa, J, Wheeler, R B, Múnera, S, Valencia, A, Agudelo-Arango, J, Cogollo, A, Anderson, G, Bedoya, G, Mole, S E, Ruíz-Linares, A
Published in Neurology (22.02.2005)
Published in Neurology (22.02.2005)
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Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
Mulligan, Lois M, Kwok, John B. J, Healey, Catherine S, Elsdon, Mark J, Eng, Charis, Gardner, Emily, Love, Donald R, Mole, Sara E, Moore, Julie K, Papi, Laura, Ponder, Margaret A, Telenius, Hakan, Tunnacliffe, Alan, Ponder, Bruce A. J
Published in Nature (London) (03.06.1993)
Published in Nature (London) (03.06.1993)
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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis
Smith, Katherine R, Dahl, Hans-Henrik M, Canafoglia, Laura, Andermann, Eva, Damiano, John, Morbin, Michela, Bruni, Amalia C, Giaccone, Giorgio, Cossette, Patrick, Saftig, Paul, Grötzinger, Joachim, Schwake, Michael, Andermann, Frederick, Staropoli, John F, Sims, Katherine B, Mole, Sara E, Franceschetti, Silvana, Alexander, Noreen A, Cooper, Jonathan D, Chapman, Harold A, Carpenter, Stirling, Berkovic, Samuel F, Bahlo, Melanie
Published in Human molecular genetics (01.04.2013)
Published in Human molecular genetics (01.04.2013)
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Spectrum of Mutations in the Batten Disease Gene, CLN3
Munroe, Patricia B., Mitchison, Hannah M., O'Rawe, Angela M., Anderson, John W., Boustany, Rose-Mary, Lerner, Terry J., Taschner, Peter E.M., Vos, Nanneke de, Breuning, Martijn H., Gardiner, R. Mark, Mole, Sara E.
Published in American journal of human genetics (01.08.1997)
Published in American journal of human genetics (01.08.1997)
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Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis
Lauronen, L, Munroe, P B, Järvelä, I, Autti, T, Mitchison, H M, O'Rawe, A M, Gardiner, R M, Mole, S E, Puranen, J, Häkkinen, A M, Kirveskari, E, Santavuori, P
Published in Neurology (15.01.1999)
Published in Neurology (15.01.1999)
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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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Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2
Gardner, E, Papi, L, Easton, D F, Cummings, T, Jackson, C E, Kaplan, M, Love, D R, Mole, S E, Moore, J K, Mulligan, L M
Published in Human molecular genetics (01.03.1993)
Published in Human molecular genetics (01.03.1993)
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Rapid diagnostic test for the major mutation underlying Batten disease
Järvelä, I, Mitchison, H M, Munroe, P B, O'Rawe, A M, Mole, S E, Syvänen, A C
Published in Journal of medical genetics (01.12.1996)
Published in Journal of medical genetics (01.12.1996)
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Structure and Function of SV40 Large-T Antigen
Mole, S E, Gannon, J V, Ford, M J, Lane, D P
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (15.12.1987)
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (15.12.1987)
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Prenatal diagnosis of Batten's disease
Munroe, P.B, Mitchison, H.M, Mole, S.E, Gardiner, R.M, Rapola, J, Mustonen, A, Järvelä, I
Published in The Lancet (British edition) (13.04.1996)
Published in The Lancet (British edition) (13.04.1996)
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A murine model for juvenile NCL: gene targeting of mouse Cln3
Greene, N D, Bernard, D L, Taschner, P E, Lake, B D, de Vos, N, Breuning, M H, Gardiner, R M, Mole, S E, Nussbaum, R L, Mitchison, H M
Published in Molecular genetics and metabolism (01.04.1999)
Published in Molecular genetics and metabolism (01.04.1999)
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Batten disease gene, CLN3 : linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes
MITCHISON, H. M, O'RAWE, A. M, SANDKUIJL, L. A, SANTAVUORI, P, DE VOS, N, BREUNING, M. H, MOLE, S. E, GARDINER, R. M, JÄRVELÄ, I. E, TASCHNER, P. E. M
Published in American journal of human genetics (01.03.1995)
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Published in American journal of human genetics (01.03.1995)
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Genomic Structure and Complete Nucleotide Sequence of the Batten Disease Gene,CLN3
Mitchison, Hannah M., Munroe, Patricia B., O'Rawe, Angela M., Taschner, Peter E.M., de Vos, Nanneke, Kremmidiotis, Gabriel, Lensink, Ingrid, Munk, A.Christine, D'Arigo, Kenneth L, Anderson, John W., Lerner, Terry J., Moyzis, Robert K., Callen, David F., Breuning, Martijn H., Doggett, Norman A., Gardiner, R.Mark, Mole, Sara E.
Published in Genomics (San Diego, Calif.) (01.03.1997)
Published in Genomics (San Diego, Calif.) (01.03.1997)
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