Résultat de recherche

Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts.

Floriane PETIT, Michael Dussiot, Olivier Hermine, Arnold Munnich, Agnès Rötig

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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Andrea Zanetti, Lucas FARES-TAIE, Jeanne Amiel, Pierre David, Nathalie Boddaert, Jean-Michel Rozet, Isabelle Perrault

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

Anca Marian, 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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Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

Quentin Hennocq, Jeanne Amiel, Thomas Bongibault, Valérie Cormier-Daire, Stanislas Lyonnet, Marlène Rio, Nicolas Garcelon

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Anatomy and mobility in the adult cadaveric craniocervical junction.

Maxime Taverne, Roman Hossein Khonsari, Thomas Blauwblomme

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