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International consensus recommendations on the diagnostic work-up for malformations of cortical development

Nature reviews. Neurology, 2020-11, Vol.16 (11), p.618-635

2020

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An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons

Nature communications, 2022-11, Vol.13 (1), p.6797-14, Article 6797

2022

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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.38-38, Article 38

2019

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Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance

Frontiers in genetics, 2022-07, Vol.13, p.934395

2022

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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

Brain (London, England : 1878), 2013-02, Vol.136 (Pt 2), p.536-548

2013

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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Nature genetics, 2011-01, Vol.43 (1), p.20-22

2011

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Generation of highly purified human cardiomyocytes from peripheral blood mononuclear cell-derived induced pluripotent stem cells

PloS one, 2015-05, Vol.10 (5), p.e0126596-e0126596

2015

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Varying Patterns of CNS Imaging in Influenza A Encephalopathy in Childhood

Clinical neuroradiology (Munich), 2020-06, Vol.30 (2), p.243-249

2020

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Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Orphanet journal of rare diseases, 2019-07, Vol.14 (1), p.179-179, Article 179

2019

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Further evidence for POMK as candidate gene for WWS with meningoencephalocele

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.242-10, Article 242

2020

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Activation and Purification of ß‐Glucocerebrosidase by Exploiting its Transporter LIMP‐2 – Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease

Advanced science, 2024-07, Vol.11 (25), p.e2401641-n/a

2024

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Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation

Brain & development (Tokyo. 1979), 2016-09, Vol.38 (8), p.777-780

2016

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Late‐onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/D

Annals of clinical and translational neurology, 2024-07, Vol.11 (7), p.1715-1731

2024

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Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10

JAAD Case Reports, 2023-05, Vol.35, p.74-76

2023

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Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

Annals of neurology, 2007-12, Vol.62 (6), p.656-665

2007

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LIS1 -associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs

Brain & development (Tokyo. 1979), 2016-04, Vol.38 (4), p.399-406

2016

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Mikrozephalie

Medizinische Genetik, 2015-12, Vol.27 (4), p.339-340

Hehr, Ute

2015

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CARASIL with coronary artery disease and distinct cerebral microhemorrhage: A case report and literature review

Clinical and Translational Neuroscience, 2020-01, Vol.4 (1), p.2514183

2020

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Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

Nature genetics, 1999-06, Vol.22 (2), p.196-198

1999

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Pränataldiagnostik bei fetaler Mikrozephalie

Medizinische Genetik, 2015-12, Vol.27 (4), p.351-361

2015

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Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19

Immunity (Cambridge, Mass.), 2021-11, Vol.54 (11), p.2650-2669.e14

2021

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Mikrozephalie

Medizinische Genetik, 2015-12, Vol.27 (4), p.339-340

Hehr, Ute

2015

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Präimplantationsdiagnostik für monogene Erkrankungen am PID-Zentrum Regensburg

Medizinische Genetik, 2019-11, Vol.31 (3), p.266-274

2019

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Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

Neurogenetics, 2007-11, Vol.8 (4), p.279-288

2007

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International consensus recommendations on the diagnostic work-up for malformations of cortical development

An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Generation of highly purified human cardiomyocytes from peripheral blood mononuclear cell-derived induced pluripotent stem cells

Varying Patterns of CNS Imaging in Influenza A Encephalopathy in Childhood

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

Activation and Purification of ß‐Glucocerebrosidase by Exploiting its Transporter LIMP‐2 – Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation

Secondary hemophagocytic lymphohistiocytosis and severe liver injury induced by hepatic SARS-CoV-2 infection unmasking Wilson’s disease: Balancing immunosuppression

Late‐onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/D

Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

LIS1 -associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs

Mikrozephalie

CARASIL with coronary artery disease and distinct cerebral microhemorrhage: A case report and literature review

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

Pränataldiagnostik bei fetaler Mikrozephalie

Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19

Mikrozephalie

Präimplantationsdiagnostik für monogene Erkrankungen am PID-Zentrum Regensburg

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

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