Resources

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

Alessandra Pierani

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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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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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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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Gene Therapy with Hematopoietic Stem Cells: The Diseased Bone Marrow's Point of View.

Marina Cavazzana, Chantal LAGRESLE-PEYROU, Isabelle André

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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Corinne Antignac, Matias Simons, Christelle Arrondel, Olivier Gribouval, Olivia Boyer

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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Clément PONTOIZEAU, Agnès Rötig, Chris OTTOLENGHI

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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Benedetta RUZZENENTE, Agnès Rötig, Metodi METODIEV

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Single-Molecule Analysis of mtDNA Replication Uncovers the Basis of the Common Deletion.

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