Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype
Voer, G., Bent, P., Rodrigues, A. J. G., Ommen, G.‐J. B., Peters, D. J. M., Taschner, P. E. M.
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology
Douwes Dekker, PB, Hogendoorn, PCW, Kuipers-Dijkshoorn, N, Prins, FA, van Duinen, SG, Taschner, PEM, van der Mey, AGL, Cornelisse, CJ
Published in The Journal of pathology (01.11.2003)
Published in The Journal of pathology (01.11.2003)
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Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas
van Houtum, W H, Corssmit, E P M, Douwes Dekker, P B, Jansen, J C, van der Mey, A G L, Bröcker-Vriends, A H J T, Taschner, P E M, Losekoot, M, Frölich, M, Stokkel, M P M, Cornelisse, C J, Romijn, J A
Published in European journal of endocrinology (01.01.2005)
Published in European journal of endocrinology (01.01.2005)
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First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis
Kleijer, W. J., van Diggelen, O. P., Keulemans, J. L. M., Losekoot, M., Garritsen, V. H., Stroink, H., Majoor-Krakauer, D., Franken, P. F., Eurlings, M. C. M., Taschner, P. E. M., Los, F. J., Galjaard, R. J. H.
Published in Prenatal diagnosis (01.02.2001)
Published in Prenatal diagnosis (01.02.2001)
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Mutations in SDHD, A Mitochondrial Complex II Gene, in Hereditary Paraganglioma
Baysal, Bora E., Ferrell, Robert E., Willett-Brozick, Joan E., Lawrence, Elizabeth C., Myssiorek, David, Bosch, Anne, van der Mey, Andel, Peter E. M. Taschner, Rubinstein, Wendy S., Myers, Eugene N., Richard, Charles W., Cornelisse, Cees J., Devilee, Peter, Devlin, B.
Published in Science (American Association for the Advancement of Science) (04.02.2000)
Published in Science (American Association for the Advancement of Science) (04.02.2000)
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Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease
ODERMATT, A, TASCHNER, P. E. M, KHANNA, V. K, BUSCH, H. F. M, KARPATI, G, JABLECKI, C. K, BREUNING, M. H, MACLENNAN, D. H
Published in Nature genetics (01.10.1996)
Published in Nature genetics (01.10.1996)
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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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Journal Article
Characterization of the Gene Encoding Human Sarcolipin (SLN), a Proteolipid Associated with SERCA1: Absence of Structural Mutations in Five Patients with Brody Disease
Odermatt, Alex, Taschner, Peter E.M., Scherer, Stephen W., Beatty, Barbara, Khanna, Vijay K., Cornblath, David R., Chaudhry, Vinay, Yee, Won-Chee, Schrank, Bertold, Karpati, George, Breuning, Martijn H., Knoers, Nine, Maclennan, David H.
Published in Genomics (San Diego, Calif.) (01.11.1997)
Published in Genomics (San Diego, Calif.) (01.11.1997)
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Journal Article
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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From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis
Taschner, P E M, Losekoot, M, Breuning, M H, Hofman, I, van Diggelen, O P
Published in Nederlands tijdschrift voor geneeskunde (05.02.2005)
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Published in Nederlands tijdschrift voor geneeskunde (05.02.2005)
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Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits
Mitchison, H M, O'Rawe, A M, Lerner, T J, Taschner, P E, Schlumpf, K, D'Arigo, K, de Vos, N, Gormally, E, Phillips, H A, Thompson, A D
Published in American journal of medical genetics (05.06.1995)
Published in American journal of medical genetics (05.06.1995)
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Journal Article
Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families
LEMMINK, H. H, VAN DEN HEUVEL, L. P. W. J, VAN DIJK, H. A, MERKX, G. F. M, SMILDE, T. J, TASCHNER, P. E. M, MONNENS, L. A. H, HEBERT, S. C, KNOERS, N. V. A. M
Published in Pediatric nephrology (Berlin, West) (01.08.1996)
Published in Pediatric nephrology (Berlin, West) (01.08.1996)
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Conference Proceeding
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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)
Journal Article
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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Journal Article
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis
de Vries, B. B. A., Kleijer, W. J., Keulemans, J. L. M., Voznyi, Y. V., Franken, P. F., Eurlings, M. C. M., Galjaard, R. J., Losekoot, M., Catsman-Berrevoets, C. E., Breuning, M. H., Taschner, P. E. M., van Diggelen, O. P.
Published in Prenatal diagnosis (01.06.1999)
Published in Prenatal diagnosis (01.06.1999)
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Molecular analysis of SALLI mutations in Townes-Brocks syndrome
KOHLHASE, J, TASCHNER, P. E. M, SEIDEL, J, KIRKPATRICK, S. J, PAULI, R. M, WARGOWSKI, D. S, DEVRIENDT, K, PROESMANS, W, GABRIELLI, O, COPPA, G. V, SWAAY, E. W.-V, TREMBATH, R. C, BURFEIND, P, SCHINZEL, A. A, REARDON, W, SEEMANOVA, E, ENGEL, W, PASCHE, B, NEWMAN, B, BLANCK, C, BREUNING, M. H, TEN KATE, L. P, MAASWINKEL-MOOY, P, MITULLA, B
Published in American journal of human genetics (1999)
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Published in American journal of human genetics (1999)
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