Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Brunhilde Molzer"'
Autor:
Brunhilde Molzer, Marta Zobel, Johannes Berger, Agnieszka Ługowska, Anna Tylki-Szymańska, Barbara Czartoryska, Beate Löschl
Publikováno v:
Clinical Genetics. 68:48-54
The occurrence and genotype-phenotype correlations of the eight most common mutations in the arylsulfatase A (ARSA) gene were studied in 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD). Screening for
Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy
Autor:
Johannes Berger, Marta Zobel, Anna Tylki-Szymańska, Jolanta Chmielik, Brunhilde Molzer, Agnieszka Ługowska, Anna Jakubowska-Winecka, Jerzy Kotowicz
Publikováno v:
American Journal of Medical Genetics. 110:315-319
Potential damage of central and peripheral nervous system expressed as micro-organic brain damage (MOBD) was investigated in 27 unrelated heterozygotes with metachromatic leukodystrophy (MLD). Arylsulfatase A (ARSA) was determined in peripheral blood
Autor:
Johannes Berger, Andreas Holzinger, Sonja Forss-Petter, Brunhilde Molzer, Gertraud Unterrainer, Angela Netik
Publikováno v:
Human Molecular Genetics. 8:907-913
Inherited defects in the peroxisomal ATP-binding cassette (ABC) transporter adrenoleukodystrophy protein (ALDP) lead to the lethal peroxisomal disorder X-linked adrenoleukodystrophy (X-ALD), for which no efficient treatment has been established so fa
Publikováno v:
Human Mutation. 13:61-68
In a family with three siblings, one developed classical late infantile metachromatic leukodystrophy (MLD), fatal at age 5 years, with deficient arylsulfatase A (ARSA) activity and increased galactosylsulfatide (GS) excretion. The two other siblings,
Autor:
Brunhilde Molzer, Hans Lassmann, Hauke B. Werner, Frank Zimmermann, Markus H. Schwab, Johannes Berger, Klaus-Armin Nave, H. Bernheimer, Sonja Forss-Petter
Publikováno v:
Journal of Neuroscience Research. 50:829-843
In its severe form, X-linked adrenoleukodystrophy (ALD) is a lethal neurologic disease of children, characterized by progressive cerebral demyelination and adrenal insufficiency. Associated with a biochemical defect of peroxisomal β-oxidation, very
Autor:
Johannes Berger, Adelbert A. Roscher, Ingrid Fae, H. Bernheimer, G. Fischer, Brunhilde Molzer, A. Braun
Publikováno v:
Biochemical and Biophysical Research Communications. 216:447-451
Inflammatory demyelination in the central nervous system in the childhood cerebral phenotype of X-linked adrenoleukodystrophy (X-ALD) bears resemblance to that of multiple sclerosis. With a view to an association of HLA class II genes, specifically H
Publikováno v:
Biochemical and Biophysical Research Communications. 205:1638-1643
Fragments of the adrenoleukodystrophy (ALD) cDNA from a patient with adolescent ALD were amplified by polymerase chain reaction and subcloned. Bidirectional sequencing of the entire coding ALD gene disclosed a cytosine to guanine transversion at nucl
Autor:
Martine El Etr, Françoise Cadepond, Maurice Bugaut, Stéphane Fourcade, Stéphane Savary, Brunhilde Molzer, Angela Netik, Johannes Berger, Catherine Gondcaille
Publikováno v:
Molecular pharmacology. 63(6)
X-linked adrenoleukodystrophy (X-ALD) is a demyelinating disorder associated with impaired very-long-chain fatty-acid (VLCFA) beta-oxidation caused by mutations in the ABCD1 (ALD) gene that encodes a peroxisomal membrane ABC transporter. ABCD2 (ALDR)
Publikováno v:
Human Genetics. 92:421-423
Metachromatic leukodystrophy (MLD) is an autosomal recessive neurometabolic disorder caused by deficiency of arylsulfatase A (ASA). To detect ASA mutations E2S609 and E8P2382, the two most frequent MLD mutations, a non-radioactive polymerase chain re
Publikováno v:
Acta Neuropathologica. 86:187-189
Very long chain fatty acids (VLCFA) were found to be markedly increased and phytanic acid was borderline above normal in formalin-fixed brain white matter of case with an unusual type of familial leukodystrophy with epitheloid cells as described prev