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- Publications
- Influence
Reversing excitatory GABAAR signaling restores synaptic plasticity and memory in a mouse model of Down syndrome
- G. Deidda, M. Parrini, Shovan Naskar, I. F. Bozarth, A. Contestabile, L. Cancedda
- Biology, Medicine
- Nature Medicine
- 1 April 2015
Down syndrome (DS) is the most frequent genetic cause of intellectual disability, and altered GABAergic transmission through Cl−-permeable GABAA receptors (GABAARs) contributes considerably to… Expand
Modulation of GABAergic transmission in development and neurodevelopmental disorders: investigating physiology and pathology to gain therapeutic perspectives
- G. Deidda, I. F. Bozarth, L. Cancedda
- Biology, Medicine
- Front. Cell. Neurosci.
- 22 May 2014
During mammalian ontogenesis, the neurotransmitter GABA is a fundamental regulator of neuronal networks. In neuronal development, GABAergic signaling regulates neural proliferation, migration,… Expand
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients
- T. Rijkers, G. Deidda, +8 authors S. M. van der Maarel
- Biology, Medicine
- Journal of Medical Genetics
- 1 November 2004
Background: Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with partial deletion of the subtelomeric D4Z4 repeat array on chromosome 4qter. This chromosomal… Expand
Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.
- P. G. V. van Overveld, R. Lemmers, +4 authors S. M. van der Maarel
- Medicine, Biology
- Human molecular genetics
- 22 November 2000
Chromosomal rearrangements occur more frequently in subtelomeric domains than in other regions of the genome and are often associated with human pathology. To further elucidate the plasticity of… Expand
Early depolarizing GABA controls critical period plasticity in the rat visual cortex
- G. Deidda, Manuela Allegra, +6 authors L. Cancedda
- Biology, Medicine
- Nature Neuroscience
- 5 November 2014
Hyperpolarizing and inhibitory GABA regulates critical periods for plasticity in sensory cortices. Here we examine the role of early, depolarizing GABA in the control of plasticity mechanisms. We… Expand
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.
- R. Lemmers, S. M. van der Maarel, +8 authors R. Frants
- Biology, Medicine
- Human molecular genetics
- 1 August 1998
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD) is causally related to a short Eco RI fragment detected by probe p13E-11. This remnant fragment is the result of a… Expand
A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)
- S. M. van der Maarel, G. Deidda, +6 authors R. Frants
- Biology, Medicine
- Journal of medical genetics
- 1 November 1999
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the size reduction of a polymorphic repeat array on 4q35. Probe p13E-11 recognises this chromosomal rearrangement and is generally used for… Expand
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.
- S. M. van der Maarel, G. Deidda, +8 authors R. Frants
- Biology, Medicine
- American journal of human genetics
- 2000
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by deletion of most copies of the 3.3-kb subtelomeric D4Z4 repeat array on chromosome 4q. The molecular mechanisms behind… Expand
Aerobic exercise and a BDNF-mimetic therapy rescue learning and memory in a mouse model of Down syndrome
- M. Parrini, D. Ghezzi, +6 authors A. Contestabile
- Medicine
- Scientific Reports
- 4 December 2017
Down syndrome (DS) is caused by the triplication of human chromosome 21 and represents the most frequent genetic cause of intellectual disability. The trisomic Ts65Dn mouse model of DS shows synaptic… Expand
FRG1P is localised in the nucleolus, Cajal bodies, and speckles
- S. van Koningsbruggen, R. Dirks, +5 authors S. M. van der Maarel
- Medicine
- Journal of Medical Genetics
- 1 April 2004
T he highly conserved facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) was initially cloned as candidate gene of unknown function for FSHD. To explore the biological function of the… Expand
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