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Stephanie Kleinle

31

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842

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Alpers- and MNGIE-like disease with disturbed CSF folate transport and an unusual mode of genetic transmission of POLG mutations: a case report

2021 Journal of International Child Neurology Association
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Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence?

2021 Journal of Neurology
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Mitochondrial and Nuclear Disease (Mito-aND-Panel): Combined Sequencing of Mitochondrial and Nuclear DNA by a Cost Effective and Sensitive NGS-based Method

2019
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Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method

2018 Molecular Genetics & Genomic Medicine
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A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

2018 Human Molecular Genetics
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Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

2018 Scientific Reports
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Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

2018 Journal of Medical Genetics
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Family analysis of patients with pathogenic variants in mitochondrial genes MT-ATP6 and MT-ATP8

2017
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Genetic heterogeneity of motor neuropathies

2017 Neurology
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Revisiting mitochondrial diagnostic criteria in the new era of genomics

2017 Genetics in Medicine
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Citations (39)