Publications and ressources

Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development.

Giulia Barcia, Edor Kabashi, Rima NABBOUT, Sorana CIURA, Thomas Blauwblomme

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Poly-GP accumulation due to C9orf72 loss of function induces motor neuron apoptosis through autophagy and mitophagy defects.

Hortense de Calbiac, Solene RENAULT, Grégoire Haouy, Maria-Letizia Campanari, Anca Marian, Chiara Guerrera, Sorana CIURA, Edor Kabashi

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Poly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular condensates.

Anca Marian, Edor Kabashi

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Novel genome-editing-based approaches to treat motor neuron diseases: Promises and challenges.

Annarita Miccio , Panagiotis Antoniou, Sorana CIURA, Edor Kabashi

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Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.

Marine Madrange, Corinne Lebreton, Olivier Pellé

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Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial.

Rima NABBOUT

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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Edor Kabashi

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Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial.

Rima NABBOUT

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Trpv4 Mediates Hypotonic Inhibition of Central Osmosensory Neurons via Taurine Gliotransmission.

Sorana CIURA

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Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.

Sorana CIURA

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Gamma-aminobutyric acidergic transmission underlies interictal epileptogenicity in pediatric focal cortical dysplasia.

Rima NABBOUT

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KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.

Rima NABBOUT

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Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.

Rima NABBOUT

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The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway.

Edor Kabashi

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