P89 – 2878: Neuronal ceroid lipofuscinosis-2 (CLN2) natural history and path to diagnosis: International experts' current experience and recommendations on CLN2 disease, a type of Batten disease, resulting from TPP1 enzyme deficiency
Schulz, A, Miller, N, Mole, S.E, Cohen-Pfeffer, J.L
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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Journal Article
Mapping of Two Phenol Sulfotransferase Genes, STP and STM, to 16p: Candidate Genes for Batten Disease
Dooley, T.P., Mitchison, H.M., Munroe, P.B., Probst, P., Neal, M., Siciliano, M.J., Deng, Z.M., Doggett, N.A., Callen, D.F., Gardiner, R.M., Mole, S.E.
Published in Biochemical and biophysical research communications (01.11.1994)
Published in Biochemical and biophysical research communications (01.11.1994)
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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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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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Journal Article
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 MouseCln3
Greene, N.D.E., Bernard, D.L., Taschner, P.E.M., 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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Journal Article
The Molecular Basis of GROD-Storing Neuronal Ceroid Lipofuscinoses in Scotland
Stephenson, J.B.P., Greene, N.D.E., Leung, K.Y., Munroe, P.B., Mole, S.E., Gardiner, R.M., Taschner, P.E.M., O'Regan, M., Naismith, K., Crow, Y.J., 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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Journal Article
Assignment of Fifty-Four Cosmid Clones to Five Regions of Chromosome 10
Mole, Sara E., Jackson, Michael S., Tokino, Takashi, Nakamura, Yusuke, Ponder, Bruce A.J.
Published in Genomics (San Diego, Calif.) (01.02.1993)
Published in Genomics (San Diego, Calif.) (01.02.1993)
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