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Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
TLDR
It is concluded that the tissue-specific impact ofSTIM1 loss or constitutive activation is different and that a tight regulation of STIM1-dependent SOCE is fundamental for normal skeletal-muscle structure and function. Expand
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
TLDR
The data provide the evidence that specific BIN1 mutations can cause either recessive or dominant centronuclear myopathy and that both disorders involve different pathomechanisms. Expand
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
TLDR
It is shown that the mutations induce constitutive STIM1 clustering, strongly suggesting that calcium sensing and consequently calcium homoeostasis is impaired, and should be considered for patients with tubular aggregate myopathies involving either muscle weakness or myalgia. Expand
Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy
TLDR
The possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure are discussed. Expand
A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy
TLDR
The clinical and histopathological features of a sporadic case presenting with severe NM and cardiomyopathy are described and a homozygous nonsense mutation in the last exon of MYO18B is identified, leading to a truncated protein lacking the most C-terminal part. Expand
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
TLDR
Using array CGH, qPCR and sequence analysis, it is found causative mutations in FAM58A on Xq28 in all affected individuals, suggesting an X-linked dominant inheritance pattern for this recognizable syndrome. Expand
Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy
TLDR
Mild functional defects are suggestive of differences between CMT and CNM disease-causing dynamin 2 mutants and suggest that a slight impairment in clathrin-mediated pathways may accumulate over time to foster the respective human diseases. Expand
Next generation sequencing for molecular diagnosis of neuromuscular diseases
TLDR
Next generation sequencing (NGS) is tested as an efficient and cost-effective strategy to accelerate patient diagnosis of inherited neuromuscular disorders, validating the sensitivity and reproducibility of this strategy on a heterogeneous subset of NMD with different genetic inheritance. Expand
PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION
TLDR
The phenotype of an adult patient with CNM with a novel BIN1 mutation is characterized, which includes an elongated face, high-arched palate, retrognathism, protruding ears, thin hands with long small fingers, left-sided kyphoscoliosis, bilateral pes cavus, and equinovarus. Expand
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation
TLDR
A novel STIM1 mutation located in the Ca2+-binding EF domain causing TAM with features of Stormorken syndrome is reported. Expand
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