Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

Lucie Gueneau, A. Bertrand, Jean-Philippe Jaı̈s, +17

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsDegenerative DiseaseMolecular Genetics +1

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac, Julien Thevenon, Lesley C. Adès, +35

The American Journal of Human Genetics

Developmental AnomalyIn-frame MutationsMendelian DisorderExon 1Genetic Disorder +4

FHL1 is a major host factor for chikungunya virus infection

Laurent Meertens, Mohamed Lamine Hafirassou, Thérèse Couderc, +22

Nature

Chikungunya Virus InfectionMolecular VirologyPathogenesisViral PathogenesisVirology +4

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

Anne‐Laure Mosca‐Boidron, Lucie Gueneau, Guillaume Huguet, +31

European Journal of Human Genetics

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, +36

The American Journal of Human Genetics

Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders

Edoardo Malfatti, Montse Olivé, Ana Lía Taratuto, +22

Journal of Neuropathology & Experimental Neurology

Modifier locus of the skeletal muscle involvement in Emery–Dreifuss muscular dystrophy

Benjamin Granger, Lucie Gueneau, Valérie Drouin‐Garraud, +5

Human Genetics

Skeletal Muscle InvolvementMuscle PhysiologyMuscle FunctionKinesiologyMuscle Injury +8

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma

Juliette Piard, Muriel Holder‐Espinasse, Bernard Aral, +17

European Journal of Medical Genetics

Systematic SearchImmunodeficienciesSurgical PathologyClinical EpidemiologyDiagnosis +4

A Novel Genetic Variant in the Transcription Factor Islet-1 Exerts Gain of Function on Myocyte Enhancer Factor 2C Promoter Activity

Felix W. Friedrich, Gilles Dilanian, Patricia Khattar, +15

European Journal of Heart Failure

Heart involvement in lamin A/C related diseases.

Rabah Ben Yaou, Lucie Gueneau, L. Demay, +4

PubMed

Skeletal Muscle InvolvementCardiomyopathyHeart FailureCardiac MuscleHeart Involvement +12