Search Results - "LEO-KOTTLER, Beate" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

by Achilli, Alessandro, Iommarini, Luisa, Olivieri, Anna, Pala, Maria, Hooshiar Kashani, Baharak, Reynier, Pascal, La Morgia, Chiara, Valentino, Maria Lucia, Liguori, Rocco, Pizza, Fabio, Barboni, Piero, Sadun, Federico, De Negri, Anna Maria, Zeviani, Massimo, Dollfus, Helene, Moulignier, Antoine, Ducos, Ghislaine, Orssaud, Christophe, Bonneau, Dominique, Procaccio, Vincent, Leo-Kottler, Beate, Fauser, Sascha, Wissinger, Bernd, Amati-Bonneau, Patrizia, Torroni, Antonio, Carelli, Valerio
Published in PloS one (03.08.2012)

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OPA1 , encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

OPA1 , encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

by Wissinger, Bernd, Votruba, Marcela, Bhattacharya, Shomi S, Moore, Anthony, Leo-Kottler, Beate, Mayer, Simone, Pesch, Ulrike E.A, Alexander, Christiane, Thiselton, Dawn L, Kellner, Ulrich, Rodriguez, Miguel, Auburger, Georg
Published in Nature genetics (01.10.2000)

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Cataract as 'initial symptom' of Creutzfeld-Jacob disease

Cataract as 'initial symptom' of Creutzfeld-Jacob disease

by Leitritz, Martin A, Leo-Kottler, Beate, Batra, Marion, Ostertag, Karoline, Bartz-Schmidt, Karl U, Spitzer, Martin S.
Published in Acta ophthalmologica (Oxford, England) (01.09.2012)

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Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy

by Fuhrmann, Nico, Schimpf, Simone, Kamenisch, York, Leo-Kottler, Beate, Alexander, Christiane, Auburger, Georg, Zrenner, Eberhart, Wissinger, Bernd, Alavi, Marcel V
Published in Molecular neurodegeneration (14.06.2010)

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Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy

Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy

by Fauser, Sascha, Leo-Kottler, Beate, Besch, Dorothea, Luberichs, Janina
Published in Ophthalmic genetics (2002)

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A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network

by Grau, Tanja, Burbulla, Lena F, Engl, Gertraud, Delettre, Cécile, Delprat, Benjamin, Oexle, Konrad, Leo-Kottler, Beate, Roscioli, Tony, Krüger, Rejko, Rapaport, Doron, Wissinger, Bernd, Schimpf-Linzenbold, Simone
Published in Journal of medical genetics (01.12.2013)

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Encephalopathic Susac's Syndrome associated with livedo racemosa in a young woman before the completion of family planning

Encephalopathic Susac's Syndrome associated with livedo racemosa in a young woman before the completion of family planning

by Engeholm, Maik, Leo-Kottler, Beate, Rempp, Hansjörg, Lindig, Tobias, Lerche, Holger, Kleffner, Ilka, Henes, Melanie, Dihné, Marcel
Published in BMC neurology (25.11.2013)

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OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

by PESCH, Ulrike E. A, LEO-KOTTLER, Beate, MAYER, Simone, JURKLIES, Bernhard, KELLNER, Ulrich, APFELSTEDT-SYLLA, Eckart, ZRENNER, Eberhart, ALEXANDER, Christiane, WISSINGER, Bernd
Published in Human molecular genetics (15.06.2001)

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Evaluation of Fixation Pattern and Reading Ability in Patients With Leber Hereditary Optic Neuropathy

Evaluation of Fixation Pattern and Reading Ability in Patients With Leber Hereditary Optic Neuropathy

by Altpeter, Elke K, Blanke, Björn R, Leo-Kottler, Beate, Nguyen, Xuan N, Trauzettel-Klosinski, Susanne
Published in Journal of neuro-ophthalmology (01.12.2013)

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Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations

Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations

by Fauser, Sascha, Luberichs, Janina, Besch, Dorothea, Leo-Kottler, Beate
Published in Biochemical and biophysical research communications (12.07.2002)

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Segregation Patterns and Heteroplasmy Prevalence in Leber's Hereditary Optic Neuropathy

Segregation Patterns and Heteroplasmy Prevalence in Leber's Hereditary Optic Neuropathy

by Jacobi, Felix K, Leo-Kottler, Beate, Mittelviefhaus, Karin, Zrenner, Eberhart, Meyer, Jens, Pusch, Carsten M, Wissinger, Bernd
Published in Investigative ophthalmology & visual science (01.05.2001)

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Inner retinal contributions to the multifocal electroretinogram: patients with Leber's hereditary optic neuropathy (LHON): Multifocal ERG in patients with LHON

Inner retinal contributions to the multifocal electroretinogram: patients with Leber's hereditary optic neuropathy (LHON): Multifocal ERG in patients with LHON

by KURTENBACH, Anne, LEO-KOTTLER, Beate, ZRENNER, Eberhart
Published in Documenta ophthalmologica (01.05.2004)

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Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery

Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery

by LEO-KOTTLER, Beate, LUBERICHS, Janina, BESCH, Dorothea, CHRIST-ADLER, Margot, FAUSER, Sascha
Published in Graefe's archive for clinical and experimental ophthalmology (01.09.2002)

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Inner retinal contributions to the multifocal electroretinogram: patients with Leber's hereditary optic neuropathy (LHON)

Inner retinal contributions to the multifocal electroretinogram: patients with Leber's hereditary optic neuropathy (LHON)

by Kurtenbach, Anne, Leo-Kottler, Beate, Zrenner, Eberhart
Published in Documenta ophthalmologica (01.05.2004)

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A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy

A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy

by LUBERICHS, Janina, LEO-KOTTLER, Beate, BESCH, Dorothea, FAUSER, Sascha
Published in Graefe's archive for clinical and experimental ophthalmology (01.02.2002)

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Mutation Analysis of the ND6 Gene in Patients with Lebers Hereditary Optic Neuropathy

Mutation Analysis of the ND6 Gene in Patients with Lebers Hereditary Optic Neuropathy

by Wissinger, Bernd, Besch, Dorothea, Baumann, Britta, Fauser, Sascha, Christ-Adler, Margot, Jurklies, Bernhard, Zrenner, Eberhart, Leo-Kottler, Beate
Published in Biochemical and biophysical research communications (19.05.1997)

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Leber's hereditary optic neuropathy : clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene

Leber's hereditary optic neuropathy : clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene

by BESCH, D, LEO-KOTTLER, B, ZRENNER, E, WISSINGER, B
Published in Graefe's archive for clinical and experimental ophthalmology (01.09.1999)

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Ocular symptoms in association with antiphospholipid antibodies

Ocular symptoms in association with antiphospholipid antibodies

by LEO-KOTTLER, B, KLEIN, R, BERG, P. A, ZRENNER, E
Published in Graefe's archive for clinical and experimental ophthalmology (01.09.1998)

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Pupillary light reflexes in patients with Leber's hereditary optic neuropathy

Pupillary light reflexes in patients with Leber's hereditary optic neuropathy

by LÜDTKE, H, KRIEGBAUM, C, LEO-KOTTLER, B, WILHELM, H
Published in Graefe's archive for clinical and experimental ophthalmology (01.03.1999)

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Detecting color vision in a malingerer

Detecting color vision in a malingerer

by JÄGLE, Herbert, SADOWSKI, Bettina, KREMERS, Jan, SCHOLL, Hendrik P. N, LEO-KOTTLER, Beate, SHARPE, Lindsay T
Published in Documenta ophthalmologica (01.03.2003)

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