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Synaptotagmin-1-, Munc18-1-, and Munc13-1-dependent liposome fusion with a few neuronal SNAREs

Proceedings of the National Academy of Sciences - PNAS, 2021-01, Vol.118 (4)

2021

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Munc18-1 is crucial to overcome the inhibition of synaptic vesicle fusion by αSNAP

Nature communications, 2019-09, Vol.10 (1), p.4326-18, Article 4326

2019

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Role of Extracellular Matrix and Inflammation in Abdominal Aortic Aneurysm

International journal of molecular sciences, 2022-10, Vol.23 (19), p.11078

2022

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Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia

Cochrane database of systematic reviews, 2020-03, Vol.3 (3), p.CD012517-CD012517

2020

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Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.203-203, Article 203

2023

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Two faces of TEMPO (2,2,6,6-tetramethylpiperidinyl-1-oxyl) – An antioxidant or a toxin?

Biochimica et biophysica acta. Molecular cell research, 2023-02, Vol.1870 (2), p.119412, Article 119412

2023

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Challenges in diagnosing and managing adult patients with urea cycle disorders

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1136-1146

2019

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Re‐examining how Munc13‐1 facilitates opening of syntaxin‐1

Protein science, 2020-06, Vol.29 (6), p.1440-1458

2020

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One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.109-109, Article 109

2022

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Neuropsychology assessment and outcomes in adult mucopolysaccharidosis – A systematic review as the first step to service development in a large tertiary Lysosomal Storage Disorders centre

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.106980-106980, Article 106980

2023

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Multiple factors maintain assembled trans-SNARE complexes in the presence of NSF and αSNAP

eLife, 2019-01, Vol.8

2019

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Autoinhibition of Munc18-1 modulates synaptobrevin binding and helps to enable Munc13-dependent regulation of membrane fusion

eLife, 2017-05, Vol.6

2017

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Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies

International journal of molecular sciences, 2022-09, Vol.23 (18), p.10573

2022

Volltextzugriff (PDF)

Anatomy of proximal attachment, course, and innervation of hamstring muscles: a pictorial essay

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA, 2019-03, Vol.27 (3), p.673-684

2019

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Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long‐term management

Clinical endocrinology (Oxford), 2024-06

2024

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GM1 Gangliosidosis-A Mini-Review

Frontiers in genetics, 2021-09, Vol.12, p.734878-734878

2021

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Disorders in the CMG helicase complex increase the proliferative capacity and delay chronological aging of budding yeast

Biochimica et biophysica acta. Molecular cell research, 2024-01, Vol.1871 (1), p.119621-119621, Article 119621

2024

Volltextzugriff (PDF)

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series

International journal of molecular sciences, 2020-06, Vol.21 (12), p.4564

2020

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Osteogenesis Imperfecta: Current and Prospective Therapies

Biomolecules (Basel, Switzerland), 2021-10, Vol.11 (10), p.1493

2021

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Impact of curcumin on replicative and chronological aging in the Saccharomyces cerevisiae yeast

Biogerontology (Dordrecht), 2020-02, Vol.21 (1), p.109-123

2020

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Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders

Journal of clinical medicine, 2017-07, Vol.6 (7), p.71

2017

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Live while the DNA lasts. The role of autophagy in DNA loss and survival of diploid yeast cells during chronological aging

Aging (Albany, NY.), 2023-10, Vol.15 (19), p.9965-9983

2023

Volltextzugriff (PDF)

mRNA Expression of thrombospondin 1, 2 and 3 from proximal to distal in human abdominal aortic aneurysm - preliminary report

Acta biochimica Polonica, 2021-10, Vol.68 (4), p.745

2021

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Open syntaxin overcomes exocytosis defects of diverse mutants in C. elegans

Nature communications, 2020-11, Vol.11 (1), p.5516-5516, Article 5516

2020

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Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

Genes, 2020-11, Vol.11 (11), p.1383

2020

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Synaptotagmin-1-, Munc18-1-, and Munc13-1-dependent liposome fusion with a few neuronal SNAREs

Munc18-1 is crucial to overcome the inhibition of synaptic vesicle fusion by αSNAP

Role of Extracellular Matrix and Inflammation in Abdominal Aortic Aneurysm

Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia

Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel

Two faces of TEMPO (2,2,6,6-tetramethylpiperidinyl-1-oxyl) – An antioxidant or a toxin?

Challenges in diagnosing and managing adult patients with urea cycle disorders

Re‐examining how Munc13‐1 facilitates opening of syntaxin‐1

One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN

Neuropsychology assessment and outcomes in adult mucopolysaccharidosis – A systematic review as the first step to service development in a large tertiary Lysosomal Storage Disorders centre

Multiple factors maintain assembled trans-SNARE complexes in the presence of NSF and αSNAP

Autoinhibition of Munc18-1 modulates synaptobrevin binding and helps to enable Munc13-dependent regulation of membrane fusion

Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies

Anatomy of proximal attachment, course, and innervation of hamstring muscles: a pictorial essay

Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long‐term management

GM1 Gangliosidosis-A Mini-Review

Disorders in the CMG helicase complex increase the proliferative capacity and delay chronological aging of budding yeast

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series

Osteogenesis Imperfecta: Current and Prospective Therapies

Impact of curcumin on replicative and chronological aging in the Saccharomyces cerevisiae yeast

Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders

Live while the DNA lasts. The role of autophagy in DNA loss and survival of diploid yeast cells during chronological aging

mRNA Expression of thrombospondin 1, 2 and 3 from proximal to distal in human abdominal aortic aneurysm - preliminary report

Open syntaxin overcomes exocytosis defects of diverse mutants in C. elegans

Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

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