Publications by authors named "Andreas Ohlenbusch"

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Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation.
Nadia Kokaly, Helena Guerreiro, Janna Bredow, Steffi Dreha-Kulaczewski, Andreas Ohlenbusch

J Clin Med· September 2025

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A novel remitting leukodystrophy associated with a variant in .
Agnieszka Gizak, Susann Diegmann, Steffi Dreha-Kulaczewski, Janusz Wiśniewski, Przemysław Duda, Andreas Ohlenbusch

Brain Commun· March 2021

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Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy.
Marie-Christine Reinert, David Pacheu-Grau, Claudia B Catarino, Thomas Klopstock, Andreas Ohlenbusch

Orphanet J Rare Dis· February 2021

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Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM.
Simone Schröder, Britta Wieland, Andreas Ohlenbusch, Gökhan Yigit, Janine Altmüller

Am J Med Genet A· December 2020

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Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.
Elinor Lazarov, Merle Hillebrand, Simone Schröder, Katharina Ternka, Julia Hofhuis, Andreas Ohlenbusch

Neurobiol Dis· September 2020

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Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.
Lars Schlotawa, Thomas Dierks, Sophie Christoph, Eva Cloppenburg, Andreas Ohlenbusch

JIMD Rep· September 2019

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[Vanishing white matter disease in adulthood].
Florian Buggle, Elizabeta Ciric, Timan Boujan, Andreas Ohlenbusch, Jutta Gärtner

Nervenarzt· August 2019

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Homozygosity for the c.428delG variant in in a healthy individual: implications for molecular testing in patients with Joubert syndrome.
Silke Pauli, Janine Altmüller, Simone Schröder, Andreas Ohlenbusch, Steffi Dreha-Kulaczewski

J Med Genet· April 2019

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Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome.
Katarzyna Ewa Polanowska, Karolina Dzieżyc, Hendrik Rosewich, Andreas Ohlenbusch, Joanna Barbara Seniów

Cogn Behav Neurol· December 2018

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Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia.
Matthias Kettwig, Andreas Ohlenbusch, Klaus Jung, Robert Steinfeld, Jutta Gärtner

J Pediatr Genet· March 2018

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Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine.
Janin Lehmann, Steffen Schubert, Christina Seebode, Antje Apel, Andreas Ohlenbusch

Oncotarget· January 2018

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Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.
Ilona Jaszczuk, Lars Schlotawa, Thomas Dierks, Andreas Ohlenbusch, Dominique Koppenhöfer

Mol Genet Metab· July 2017

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Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.
Katharina Stoeck, Marios Nikos Psychogios, Andreas Ohlenbusch, Robert Steinfeld, Jens Schmidt

J Alzheimers Dis· December 2016

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A unique chromosomal in-frame deletion identified among seven XP-C patients.
Steffen Schubert, Petra Rieper, Andreas Ohlenbusch, Christina Seebode, Janin Lehmann

Photodermatol Photoimmunol Photomed· September 2016

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Clinical utility gene card for: Zellweger syndrome spectrum.
Hendrik Rosewich, Hans Waterham, Bwee Tien Poll-The, Andreas Ohlenbusch, Jutta Gärtner

Eur J Hum Genet· August 2015

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Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.
Hendrik Rosewich, Dagmar Weise, Andreas Ohlenbusch, Jutta Gärtner, Knut Brockmann

Neurology· August 2014

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A novel ATP1A3 mutation with unique clinical presentation.
Hendrik Rosewich, Martina Baethmann, Andreas Ohlenbusch, Jutta Gärtner, Knut Brockmann

J Neurol Sci· June 2014

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The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Hendrik Rosewich, Andreas Ohlenbusch, Peter Huppke, Lars Schlotawa, Martina Baethmann

Neurology· March 2014

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Acute onset of adult Alexander disease.
Holger Schmidt, Benedikt Kretzschmar, Paul Lingor, Silke Pauli, Peter Schramm, Andreas Ohlenbusch

J Neurol Sci· August 2013

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Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription.
Annika Schäfer, Steffen Schubert, Alexei Gratchev, Christina Seebode, Antje Apel, Andreas Ohlenbusch

J Invest Dermatol· July 2013

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Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.
Annika Schäfer, Alexei Gratchev, Christina Seebode, Lars Hofmann, Steffen Schubert, Andreas Ohlenbusch

Exp Dermatol· July 2013

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Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.
Annika Schäfer, Lars Hofmann, Alexei Gratchev, Petra Laspe, Steffen Schubert, Andreas Ohlenbusch

Exp Dermatol· January 2013

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Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
Hendrik Rosewich, Holger Thiele, Andreas Ohlenbusch, Ulrike Maschke, Janine Altmüller

Lancet Neurol· September 2012

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Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.
Andreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, Alf Bjornstad, Ann Saada

Orphanet J Rare Dis· September 2012

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Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study.
Xiao-Qi Ding, Annette Bley, Andreas Ohlenbusch, Alfried Kohlschütter, Jens Fiehler

J Magn Reson Imaging· April 2012

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