Nanna Witting
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View article: Navigating the Healthcare System With Chronic Illness: A Qualitative Study of Caregiver Experiences
Navigating the Healthcare System With Chronic Illness: A Qualitative Study of Caregiver Experiences Open
Background Chronic illness management often requires ongoing self‐care by patients, along with complex interactions with healthcare professionals. Informal caregivers play a crucial role in supporting individuals with chronic conditions; h…
View article: Understanding symptoms in the lives of adult patients with acute or chronic illness: a phenomenological study of patient experiences
Understanding symptoms in the lives of adult patients with acute or chronic illness: a phenomenological study of patient experiences Open
Insights emphasize the importance of addressing both the biological and existential dimensions of symptoms. Face-to-face clinical encounters offer a shared opportunity to create reflective spacesValidating coping strategies and supporting …
View article: Challenges navigating thymectomy with myasthenia gravis: A qualitative study of patient treatment experiences
Challenges navigating thymectomy with myasthenia gravis: A qualitative study of patient treatment experiences Open
Addressing individual patient needs, enhancing interdisciplinary coordination, and strengthening surgical nursing support can improve the thymectomy experience. Post-surgical discharge follow-up plans are essential for providing comprehens…
View article: Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Periodic Paralysis
Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Periodic Paralysis Open
[This corrects the article DOI: 10.1212/NXG.0000000000200211.].
View article: Muscle Contractility in Hypokalemic Periodic Paralysis
Muscle Contractility in Hypokalemic Periodic Paralysis Open
Introduction/Aims Primary hypokalemic periodic paralysis (HypoPP) can present with periodic paralysis and/or permanent muscle weakness. Permanent weakness is accompanied by fat replacement of the muscle. It is unknown whether the permanent…
View article: Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Periodic Paralysis
Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Periodic Paralysis Open
The results from this follow-up study support the use of quantitative muscle MRI to monitor subclinical disease progression in HypoPP in patients with and without attacks of paralysis.
View article: Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin‐deficient muscle
Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin‐deficient muscle Open
Nemaline myopathy (NM) is a genetic muscle disease, primarily caused by mutations in the NEB gene ( NEB‐ NM) and with muscle myosin dysfunction as a major molecular pathogenic mechanism. Recently, we have observed that the myosin biochemic…
View article: Structural changes and contractility in muscle assessed by magnetic resonance imaging in individuals with ryanodine receptor 1‐related rhabdomyolysis or myalgia
Structural changes and contractility in muscle assessed by magnetic resonance imaging in individuals with ryanodine receptor 1‐related rhabdomyolysis or myalgia Open
Introduction/Aims Ryanodine receptor 1 (RYR1)‐related myopathies associated with variants in the RYR1 gene present with a wide range of symptoms and severity. Two of the milder phenotypes associated with dominant pathogenic variants in RYR…
View article: Ocular versus generalized myasthenia gravis: a continuum associated with acetylcholine receptor antibody titers
Ocular versus generalized myasthenia gravis: a continuum associated with acetylcholine receptor antibody titers Open
The aim of this study was to evaluate clinical and serological differences between the ocular myasthenia gravis (oMG) and generalized MG (gMG). This study is a retrospective chart review, in which data was collected from patients fulfillin…
View article: Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle
Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle Open
Nemaline myopathy (NM) is a genetic muscle disease, primarily caused by mutations in the NEB gene ( NEB- NM) and with muscle myosin dysfunction as a major molecular pathogenic mechanism. Recently, we have observed that the myosin biochemic…
View article: Natural history of cardiac involvement in myotonic dystrophy type 1 – Emphasis on the need for lifelong follow-up
Natural history of cardiac involvement in myotonic dystrophy type 1 – Emphasis on the need for lifelong follow-up Open
What is new? What are the clinical implications?
View article: Hypokalemic periodic paralysis: a 3-year follow-up study
Hypokalemic periodic paralysis: a 3-year follow-up study Open
Background and objectives Primary hypokalemic periodic paralysis (HypoPP) is an inherited channelopathy most commonly caused by mutations in CACNA1S . HypoPP can present with different phenotypes: periodic paralysis (PP), permanent muscle …
View article: Abnormal myosin post‐translational modifications and <scp>ATP</scp> turnover time associated with human congenital myopathy‐related <i>RYR1</i> mutations
Abnormal myosin post‐translational modifications and <span>ATP</span> turnover time associated with human congenital myopathy‐related <i>RYR1</i> mutations Open
Aim Conditions related to mutations in the gene encoding the skeletal muscle ryanodine receptor 1 ( RYR1 ) are genetic muscle disorders and include congenital myopathies with permanent weakness, as well as episodic phenotypes such as rhabd…
View article: Myositis‐related autoantibody profile and clinical characteristics stratified by anti‐cytosolic 5′‐nucleotidase <scp>1A</scp> status in connective tissue diseases
Myositis‐related autoantibody profile and clinical characteristics stratified by anti‐cytosolic 5′‐nucleotidase <span>1A</span> status in connective tissue diseases Open
Introduction/Aims Cytosolic 5′‐nucleotidase 1A (cN‐1A) autoantibodies have been recognized as myositis‐related autoantibodies. However, their correlations with clinical characteristics and other myositis‐specific and myositis‐associated au…
View article: Myositis-specific autoantibodies and QTc changes by ECG in idiopathic inflammatory myopathies
Myositis-specific autoantibodies and QTc changes by ECG in idiopathic inflammatory myopathies Open
Objectives The aim of this study was to investigate cardiac involvement detected by ECG in patients with idiopathic inflammatory myopathies (IIMs) and to evaluate possible associations between the autoantibody profile and ECG changes in th…
View article: Patients With Becker Muscular Dystrophy Have Severe Paraspinal Muscle Involvement
Patients With Becker Muscular Dystrophy Have Severe Paraspinal Muscle Involvement Open
Introduction: Paraspinal muscles are important for gross motor functions. Impairment of these muscles can lead to poor postural control and ambulation difficulty. Little knowledge exists about the involvement of paraspinal muscles in Becke…
View article: Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis
Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis Open
This study provides Class IV evidence that for patients with sIBM, long-term treatment with bimagrumab was safe, well-tolerated, and did not provide meaningful functional benefit. The study is rated Class IV because of the open-label desig…
View article: Cardiac arrest in anti-mitochondrial antibody associated inflammatory myopathy
Cardiac arrest in anti-mitochondrial antibody associated inflammatory myopathy Open
Insight into predictors of cardiac involvement in inflammatory myopathies is sparse. A negative prognostic role of anti-mitochondrial antibodies (AMA) has been noticed and is supported by the current case. We describe a male patient who at…
View article: Quantitative Muscle MRI as Outcome Measure in Patients With Becker Muscular Dystrophy—A 1-Year Follow-Up Study
Quantitative Muscle MRI as Outcome Measure in Patients With Becker Muscular Dystrophy—A 1-Year Follow-Up Study Open
Introduction: With the advent of emerging molecular therapies for muscular dystrophies, the need for knowledge about natural history course of such diseases is of utmost importance in the preparation for future trials. However, for Becker …
View article: Responsiveness of outcome measures in myotonic dystrophy type 1
Responsiveness of outcome measures in myotonic dystrophy type 1 Open
Objective As myotonic dystrophy type 1(DM1) evolves slowly and interventional trials often have a short duration, responsive outcomes in DM1 are needed. The objective of this study was to determine the responsiveness of muscle strength, ba…
View article: Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness Open
Using our unique infrastructure, we developed a pathway to expedite muscle disease diagnoses. Our data suggest that exome sequencing should be used for pathogenic variant detection in patients with suspected genetic muscle diseases, focusi…
View article: Recurrent <i>TTN</i> metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
Recurrent <i>TTN</i> metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy Open
We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (NM_001267550.1:c.39974-11T>G), inherited in trans with a second pathogenic TTN variant. Muscle-derived RN…
View article: Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service Open
Background: Neuromuscular disorders (NMDs) are clinically and genetically heterogeneous. Accurate molecular genetic diagnosis can improve clinical management, provides appropriate genetic counseling and testing of relatives, and allows pot…