Associated Papers
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.
Lornage X et al.
Neurogenetics, 2021
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Lessel I et al.
Human Genetics, 2020
The Role of Torsin AAA+ Proteins in Preserving Nuclear Envelope Integrity and Safeguarding Against Disease.
Rampello AJ et al.
Biomolecules, 2020
Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission.
Cossins J et al.
Brain Communications, 2020
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.
Ghaoui R et al.
Neuromuscular Disorders : Nmd, 2016
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