Adrenoleukodystrophy-Related Protein Can Compensate Functionally for Adrenoleukodystrophy Protein Deficiency (X-ALD): Implications for Therapy von Netik, Angela, Forss-Petter, Sonja, Holzinger, Andreas, Molzer, Brunhilde, Unterrainer, Gertraud, Berger, Johannes

Volltext

X-Linked Adrenoleukodystrophy (ALD): A Novel Mutation of the ALD Gene in 6 Members of a Family Presenting with 5 Different Phenotypes von Berger, J., Molzer, B., Fae, I., Bernheimer, H.

Volltext

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland von Ługowska, A, Berger, J, Tylki-Szymańska, A, Löschl, B, Molzer, B, Zobel, M, Czartoryska, B

Volltext

A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective von Berger, Johannes, Korosec, Thomas, Unterrainer, Gertraud, Molzer, Brunhilde

Volltext

Refsum's disease in an Arabian family von FERTL, E, FÖLDY, D, VASS, K, AUFF, E, VASS, C, MOLZER, B, BERNHEIMER, H

Volltext

High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy von Lugowska, A, Berger, J, Tylki-Szymañska, A, Czartoryska, B, Löschl, B, Molzer, B

Volltext

Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice von Forss-Petter, Sonja, Werner, Hauke, Berger, Johannes, Lassmann, Hans, Molzer, Brunhilde, Schwab, Markus H., Bernheimer, Hanno, Zimmermann, Frank, Nave, Klaus-Armin

Volltext

Rolipram does not normalize very long‐chain fatty acid levels in adrenoleukodystrophy protein‐deficient fibroblasts and mice von Netik, A., Hobel, A., Rauschka, H., Molzer, B., Forss‐Petter, S., Berger, J.

Volltext

Thyroid Hormone Induction of the Adrenoleukodystrophy-Related Gene (ABCD2) von Fourcade, Stéphane, Savary, Stéphane, Gondcaille, Catherine, Berger, Johannes, Netik, Angela, Cadepond, Françoise, El Etr, Martine, Molzer, Brunhilde, Bugaut, Maurice

Volltext

Association of X-Linked Adrenoleukodystrophy with HLA DRB1 Alleles von Berger, J., Bernheimer, H., Fae, I., Braun, A., Roscher, A., Molzer, B., Fischer, G.

Volltext

Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function : implications for gene therapy of X-linked adrenoleukodystrophy von UNTERRAINER, Gertraud, MOLZER, Brunhilde, FORSS-PETTER, Sonja, BERGER, Johannes

Volltext

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland: Metachromatic leukodystrophy in Poland von Ługowska, A, Berger, J, Tylki-Szymańska, A, Löschl, B, Molzer, B, Zobel, M, Czartoryska, B

Volltext

Adrenoleukodystrophy in an adult female. A clinical, morphological, and neurochemical study von SCHOLTE, W, MOLZER, B, PEIFFER, J, POREMBA, M, SCHUMM, F, HARZER, K, SCHNABEL, R, BERNHEIMER, H

Volltext

Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele von Ługowska, Agnieszka, Tylki-Szymańska, Anna, Berger, Johannes, Molzer, Brunhilde

Volltext

Coincidence of two novel arylsulfatase a alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: Molecular basis of phenotypic heterogeneity von Berger, Johannes, Gmach, Marion, Mayr, Udo, Molzer, Brunhilde, Bernheime, Hanno

Volltext

Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations von BERGER, J, MOLZER, B, GIESELMANN, V, BERNHEIMER, H

Volltext

A new polymorphism of arylsulfatase A within the coding region von BERGER, J, GMACH, M, FAE, I, MOLZER, B, BERNHEIMER, H

Volltext

Prevalence of Arylsulfatase A Pseudodeficiency Allele in Metachromatic Leukodystrophy Patients from Poland von Ługowska, Agnieszka, Czartoryska, Barbara, Tylki-Szymańska, Anna, Bisko, Mariola, Zimowski, Janusz G., Berger, Johannes, Molzer, Brunhilde

Volltext

Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: Dependence on reduction of arylsulfatase a activity von Molzer, Brunhilde, Sundt-Heller, Regine, Kainz-Korschinsky, Marina, Zobel, Marta

Volltext

The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection von ROSCHER, A, MOLZER, B, BERNHEIMER, H, STOCKLER, S, MUTZ, I, PALTAUF, F

Volltext