Publications and ressources

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Sandrine Marlin

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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Floriane PETIT, Stanislas Lyonnet, Agnès Rötig, Sandrine Marlin

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Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

Jean-Laurent CASANOVA

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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Nadia Bahi-Buisson, Sophie Thomas, Matias Simons, Vincent Cantagrel, Meriem Garfa-Traoré , Patrick Nitschké, Tania Attié-Bitach

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Tangential migration of glutamatergic neurons and cortical patterning during development: Lessons from Cajal-Retzius cells.

Alessandra Pierani

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Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome.

Aurore POULIET, Patrick Nitschké, Frédéric Rieux-Laucat

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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

Elodie Bal, Marine Madrange, Francine Côté, Olivier Hermine, Arnold Munnich, Asma Smahi

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Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

Nathalie Boddaert, Marlène Rio, Jean-Michel Rozet

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Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

Nathalie Boddaert, Marlène Rio, Jean-Michel Rozet

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Population Pharmacokinetic Modeling of Tenofovir in the Genital Tract of Male HIV-Infected Patients.

Aurélie Cobat

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Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes.

Frédéric Rieux-Laucat

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Mutations in BOREALIN cause thyroid dysgenesis.

Michel Polak, Aurore Carre, Athanasia Stoupa, Dulanjalee Kariyawasam

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Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model.

Alain Hovnanian

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Deciphering the genetic control of gene expression following Mycobacterium leprae antigen stimulation.

Aurélie Cobat

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Detection of interferon alpha protein reveals differential levels and cellular sources in disease.

Bénédicte Neven, Yanick Crow , Brigitte Bader-Meunier, Marie-Louise Frémond, Frédéric Rieux-Laucat, Isabelle Melki

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