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Core Clinical Phenotypes in Myotonic Dystrophies

Frontiers in neurology, 2018-05, Vol.9, p.303-303

2018

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Respiratory involvement in neuromuscular disorders

Current opinion in neurology, 2017-10, Vol.30 (5), p.529-537

2017

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Expanding the Clinical Spectrum of IgLON5-Syndrome

Journal of neuromuscular diseases, 2017, Vol.4 (4), p.337-339

Wenninger, Stephan

2017

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Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2

Journal of neurology, 2017-12, Vol.264 (12), p.2472-2480

2017

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Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

Neurology, 2019-09, Vol.93 (10), p.e995

2019

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Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study

Journal of neuromuscular diseases, 2019-01, Vol.6 (4), p.453-465

2019

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Online Surveys Are a Useful Additional Tool in Combination with Clinical Assessments to Easily Assess Demographic and Clinical Data

European neurology, 2022-02, Vol.85 (1), p.74-76

Wenninger, Stephan

2022

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Inside Humans: Creating a Simple Layered Anatomical Model from Human Surface Scans

Frontiers in virtual reality, 2021-07, Vol.2

2021

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Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease

International journal of molecular sciences, 2016-10, Vol.17 (10), p.1735-1735

2016

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Affordable But Not Cheap: A Case Study of the Effects of Two 3D-Reconstruction Methods of Virtual Humans

Frontiers in virtual reality, 2021-09, Vol.2

2021

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Resize Me! Exploring the user experience of embodied realistic modulatable avatars for body image intervention in virtual reality

Frontiers in virtual reality, 2022-10, Vol.3

2022

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Does distance matter? Embodiment and perception of personalized avatars in relation to the self-observation distance in virtual reality

Frontiers in virtual reality, 2022-12, Vol.3

2022

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Functional neuroanatomy of CCK-4-induced panic attacks in healthy volunteers

Human brain mapping, 2009-02, Vol.30 (2), p.511-522

2009

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Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1

Neurology. Genetics, 2021-04, Vol.7 (2), p.e572-e572

2021

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Evaluation of myotonometry for myotonia, muscle stiffness and elasticity in neuromuscular disorders

Journal of neurology, 2023-11, Vol.270 (11), p.5398-5407

2023

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Nociceptive pain in adult patients with 5q-spinal muscular atrophy type 3: a cross-sectional clinical study

Journal of neurology, 2023-01, Vol.270 (1), p.250-261

2023

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Suitability of the Respicheck questionnaire and Epworth sleepiness scale for therapy monitoring in myotonic dystrophy type 1

Neuromuscular disorders : NMD, 2023-10, Vol.33 (10), p.754-761

2023

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Myasthenia gravis: current status of antibody diagnostics and aspects on refractory myasthenia gravis

Fortschritte der Neurologie-Psychiatrie, 2018-09, Vol.86 (9), p.551

2018

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Anti-IgLON5 syndrome - what is our current understanding?

Fortschritte der Neurologie-Psychiatrie, 2018-09, Vol.86 (9), p.559

2018

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Hypoventilation syndrome in neuromuscular disorders

Current opinion in neurology, 2021-10, Vol.34 (5), p.686

2021

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Utility and Results from a Patient-Reported Online Survey in Myotonic Dystrophies Types 1 and 2

European neurology, 2020-11, Vol.83 (5), p.523-533

2020

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First impressions of two new brilliant biomarkers for Pompe disease in plasma and urine in comparison to Hex4 and Glc4 in urine

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S92-S92

2018

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Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy

Journal of neurology, 2016-04, Vol.263 (4), p.743-750

2016

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Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study

Journal of neurology, 2019-01, Vol.266 (1), p.133-147

2019

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A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients

Journal of neurology, 2020-02, Vol.267 (2), p.415-421

2020

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Core Clinical Phenotypes in Myotonic Dystrophies

Respiratory involvement in neuromuscular disorders

Expanding the Clinical Spectrum of IgLON5-Syndrome

Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study

Online Surveys Are a Useful Additional Tool in Combination with Clinical Assessments to Easily Assess Demographic and Clinical Data

Inside Humans: Creating a Simple Layered Anatomical Model from Human Surface Scans

Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease

Affordable But Not Cheap: A Case Study of the Effects of Two 3D-Reconstruction Methods of Virtual Humans

Resize Me! Exploring the user experience of embodied realistic modulatable avatars for body image intervention in virtual reality

Does distance matter? Embodiment and perception of personalized avatars in relation to the self-observation distance in virtual reality

Functional neuroanatomy of CCK-4-induced panic attacks in healthy volunteers

Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1

Evaluation of myotonometry for myotonia, muscle stiffness and elasticity in neuromuscular disorders

Nociceptive pain in adult patients with 5q-spinal muscular atrophy type 3: a cross-sectional clinical study

Suitability of the Respicheck questionnaire and Epworth sleepiness scale for therapy monitoring in myotonic dystrophy type 1

Myasthenia gravis: current status of antibody diagnostics and aspects on refractory myasthenia gravis

Anti-IgLON5 syndrome - what is our current understanding?

Hypoventilation syndrome in neuromuscular disorders

Utility and Results from a Patient-Reported Online Survey in Myotonic Dystrophies Types 1 and 2

First impressions of two new brilliant biomarkers for Pompe disease in plasma and urine in comparison to Hex4 and Glc4 in urine

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy

Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study

A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients

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