Free Access
Issue
Med Sci (Paris)
Volume 37, Novembre 2021
Les Cahiers de Myologie
Page(s) 50 - 52
Section Myologie dans le monde
DOI https://doi.org/10.1051/medsci/2021196
Published online 08 December 2021
  1. Kayman-Kurekci G, Talim B, Korkusuz P, et al. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. Neuromuscul Disord 2014 ; 24 : 624–633. [Google Scholar]
  2. Ghaoui R, Benavides T, Lek M, et al. TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. Neuromuscul Disord 2016; 26x: 500–3. [Google Scholar]
  3. Fichtman B, Zagairy F, Biran N, et al. Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy. Nat Commun 2019 ; 10 : 605. [Google Scholar]
  4. Feng X, Wu J, Xian W, et al. Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review. BMC Musculoskelet Disord 2020; 21: 588. [Google Scholar]
  5. Straub V, Murphy A, Udd B. LGMD workshop study group. 229th ENMC international workshop: limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017. Neuromuscul Disord 2018 ; 28 : 702–710. [Google Scholar]
  6. Gardner-Medwin D.. Clinical experience with the genetic myasthenias. In: Fejerman N, Chamoles NA, eds. New trends in pediatric neurology: proceedings of the 6th congress of the International Child Neurology Association. Amsterdam: Excerpta Medica, 1993: 117–122. [Google Scholar]
  7. Nicolau S, Kao JC, Liewluck T. Trouble at the junction: when myopathy and myasthenia overlap. Muscle Nerve 2019 ; 60 : 648–657. [Google Scholar]
  8. Cossins J, Webster R, Maxwell S, et al. Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission. Brain Commun 2020; 2 : fcaa174. [Google Scholar]
  9. Malfatti E, Catchpool T, Nouioua S et al. A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease. Neuropathol Appl Neurobiol 2021; Jun 23. doi: 10.1111/nan.12743. [Google Scholar]

Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.

Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.

Initial download of the metrics may take a while.