Associated Papers
TOR1AIP1-Associated Nuclear Envelopathies.
Mackels L et al.
International Journal of Molecular Sciences, 2023
Loss of the Nuclear Envelope Protein LAP1B Disrupts the Myogenic Differentiation of Patient-Derived Fibroblasts.
Kayman Kürekçi G et al.
International Journal of Molecular Sciences, 2022
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.
Lornage X et al.
Neurogenetics, 2021
Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review.
Feng X et al.
Bmc Musculoskeletal Disorders, 2020
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Lessel I et al.
Human Genetics, 2020
Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission.
Cossins J et al.
Brain Communications, 2020
Linker of nucleoskeleton and cytoskeleton complex proteins in cardiomyopathy.
Stroud MJ
Biophysical Reviews, 2018
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.
Ghaoui R et al.
Neuromuscular Disorders : Nmd, 2016
Torsins: not your typical AAA+ ATPases.
Rose AE et al.
Critical Reviews in Biochemistry and Molecular Biology, 2015
Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.
Kayman-Kurekci G et al.
Neuromuscular Disorders : Nmd, 2014
Genetic mutations strengthen functional association of LAP1 with DYT1 dystonia and muscular dystrophy.
Rebelo S et al.
Mutation Research. Reviews in Mutation Research, 0
Select a paper to view details