The third case of Marbach‐Rustad progeroid syndrome caused by a de novo LEMD2 variant

Haplo-insufficiency of Tmem43 in cardiac myocytes activates the DNA damage response pathway leading to a Late-Onset Senescence-Associated pro-fibrotic cardiomyopathy

(2020) Leila Rouhi et al.   CARDIOVASCULAR RESEARCH

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

(2019) Felix Marbach et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nuclear envelopathies: a complex LINC between nuclear envelope and pathology

(2017) Alexandre Janin et al.   Orphanet Journal of Rare Diseases

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation inLEMD2, and is associated with sudden cardiac death

(2015) Philip M. Boone et al.   Molecular Genetics & Genomic Medicine

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies

(2014) Caroline A. Sewry et al.   NEUROMUSCULAR DISORDERS

Diseases of the Nuclear Envelope

(2010) H. J. Worman et al.   Cold Spring Harbor Perspectives in Biology