Associated Papers
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1
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
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.
Ghaoui R et al.
Neuromuscular Disorders : Nmd, 2016
Select a paper to view details