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Article
Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel–Lindau gene in the ccRCC
The von Hippel–Lindau disease is an autosomal dominant syndrome associated with tumour formation in various tissues, such as retina, central nervous system, kidney, and adrenal glands. VHL gene deletion or mut...
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Article
Vertical parasagittal hemispherotomy: a case report of postoperative mesio-temporal seizures via amygdalofugal pathway
Vertical parasagittal hemispherotomy (VPH) is a well-established surgical treatment which is proposed for children with widespread unilateral onset of intractable epileptic seizures. VPH allows to disconnect f...
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Article
Surgery for subependymal giant cell astrocytomas in children with tuberous sclerosis complex
Subependymal giant cell astrocytomas (SEGAs) are low-grade intraventricular glial tumors that develop in 10–15% of patients with tuberous sclerosis complex; they often cause hydrocephalus and are potentially a...
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Chapter
Dystrophin and Spectrin, Two Highly Dissimilar Sisters of the Same Family
Dystrophin and Spectrin are two proteins essential for the organization of the cytoskeleton and for the stabilization of membrane cells. The comparison of these two sister proteins, and with the dystrophin hom...
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Article
Acute intralesional recording in hypothalamic hamartoma: description of 4 cases
Hypothalamic hamartomas (HHs) are intrinsically epileptogenic lesions associated to medically intractable focal epilepsy mainly characterized by gelastic and focal seizures. Intralesional recording with deep e...
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Article
Open AccessAbnormal splicing switch of DMD’s penultimate exon compromises muscle fibre maintenance in myotonic dystrophy
Myotonic Dystrophy type 1 (DM1) is a dominant neuromuscular disease caused by nuclear-retained RNAs containing expanded CUG repeats. These toxic RNAs alter the activities of RNA splicing factors resulting in a...
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Article
Versatility of non-native forms of human cytochrome c: pH and micellar concentration dependence
In addition to its electron transfer activity, cytochrome c is now known to trigger apoptosis via peroxidase activity. This new function is related to a structural modification of the cytochrome upon association ...
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Article
Late-onset epileptic spasms may be cured by focal cortical resective surgery
We report the case of a child with isolated late-onset epileptic spasms who significantly improved after focal frontal cortectomy. Clusters of axial and limb tonic contractions with head nodding began at 2 yea...
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Article
Open AccessA transcriptional-switch model for Slr1738-controlled gene expression in the cyanobacterium Synechocystis
Protein-DNA interactions play a crucial role in the life of biological organisms in controlling transcription, regulation, as well as DNA recombination and repair. The deep understanding of these processes, wh...
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Article
Interval between onset of symptoms and diagnosis of medulloblastoma in children: distribution and determinants in a population-based study
Hospital-based studies have reported long delays in the diagnosis of paediatric brain tumours. Our objective was to describe the duration between onset of symptoms and diagnosis of medulloblastoma in children ...
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Chapter
Hemispheric Disconnection: Callosotomy and Hemispherotomy
Callosotomy and hemispherotomy are both neurosurgical procedures available to disconnect the cerebral hemisphere. Callosotomy disconnects the hemispheres partly or completely, one from the other, while hemisph...
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Article
Focal cortical dysplasia and hemimegalencephaly: histological and neuroimaging correlations
Background. The classification of cerebral cortical dysplasia is difficult and there are histological similarities between focal cortical dysplasia (FCD) and hemimegalencephaly. Objectives. To correlate the MR f...
