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C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
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- Journal Article
- A1
- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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- Journal Article
- A1
- open access
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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- Conference Paper
- C3
- open access
Belgian retrospective survey of hereditary transthyretin-mediated (hATTR) amyloidosis patients treated with patisiran in real-world practice
(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S273-S274 -
- Conference Paper
- C3
- open access
A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration
(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S119-S119 -
Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT) : a multicentre, randomised, placebo-controlled, phase 3 trial
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
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Exertional rhabdomyolysis : relevance of clinical and laboratory findings, and clues for investigation
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- Journal Article
- A1
- open access
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
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- Journal Article
- A1
- open access
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies