Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Louise Devisme, C Bouchet, Marie Gonzalès, +34

Brain

Stress-induced unfolded protein response contributes to Zika virus–associated microcephaly

Ivan Gladwyn‐Ng, Lluís Cordón-Barris, Christian Alfano, +14

Nature Neuroscience

Protein Response ContributesPathogenesisViral PathogenesisVirologyMedicine

TCTN3 Mutations Cause Mohr-Majewski Syndrome

Sophie Thomas, Marine Legendre, Sophie Saunier, +22

The American Journal of Human Genetics

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Catherine Fallet‐Bianco, Annie Laquerrière, Karine Poirier, +19

Acta Neuropathologica Communications

Inner ear lesions in congenital cytomegalovirus infection of human fetuses

N. Teissier, Anne‐Lise Delezoide, A.E. Mas, +10

Acta Neuropathologica

Pediatric OtolaryngologyEar MoldingAudiologyPediatricsNeurotology +3

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

Homa Adle‐Biassette, Pascale Saugier-Véber, Catherine Fallet‐Bianco, +30

Acta Neuropathologica

Unknown Molecular BasesNeurobiology Of DiseaseNeurogenomicsEpendymaPediatric Hydrocephalus +12

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Caroline Alby, Kevin Piquand, Céline Huber, +27

The American Journal of Human Genetics

Molecular Diagnostic TechniquesMendelian DisorderGenetic DisorderShort-rib Polydactyly SyndromeGenetics +7

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

Baptiste Fouquet, Patrycja Pawlikowska, Sandrine Caburet, +14

eLife

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Maxime Ferreboeuf, Virginie Mariot, Bettina Bessières, +14

Human Molecular Genetics

Facioscapulohumeral Muscular DystrophyCell LineageDevelopmental BiologyMuscle FunctionSkeletal Muscle +13

Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome)

Esther Meyer, Christopher J. Ricketts, Neil V. Morgan, +16

The American Journal of Human Genetics

Flvcr2 Are AssociatedHydranencephaly-hydrocephaly SyndromeFowler SyndromeGenetic DisorderGenetics +7