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Items: 19


A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome.

Zemrani B, Cachat F, Bonny O, Giannoni E, Durig J, Fellmann F, Chehade H.

Eur J Med Res. 2016 Apr 30;21:19. doi: 10.1186/s40001-016-0215-z.


Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.

Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Müller JS, Evangelista T, Töpf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H.

J Neuromuscul Dis. 2014;1(1):75-90.


Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.

Engel AG, Shen XM, Selcen D, Sine SM.

Lancet Neurol. 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. Review. Erratum in: Lancet Neurol. 2015 May;14(5):461.


Role of exercise in maintaining the integrity of the neuromuscular junction.

Nishimune H, Stanford JA, Mori Y.

Muscle Nerve. 2014 Mar;49(3):315-24. doi: 10.1002/mus.24095. Epub 2013 Dec 17. Review.


Disruption of basal lamina components in neuromotor synapses of children with spastic quadriplegic cerebral palsy.

Robinson KG, Mendonca JL, Militar JL, Theroux MC, Dabney KW, Shah SA, Miller F, Akins RE.

PLoS One. 2013 Aug 16;8(8):e70288. doi: 10.1371/journal.pone.0070288. eCollection 2013.


Active zones of mammalian neuromuscular junctions: formation, density, and aging.

Nishimune H.

Ann N Y Acad Sci. 2012 Dec;1274:24-32. doi: 10.1111/j.1749-6632.2012.06836.x. Review.


Zebrafish models flex their muscles to shed light on muscular dystrophies.

Berger J, Currie PD.

Dis Model Mech. 2012 Nov;5(6):726-32. doi: 10.1242/dmm.010082. Review.


Active zone protein Bassoon co-localizes with presynaptic calcium channel, modifies channel function, and recovers from aging related loss by exercise.

Nishimune H, Numata T, Chen J, Aoki Y, Wang Y, Starr MP, Mori Y, Stanford JA.

PLoS One. 2012;7(6):e38029. doi: 10.1371/journal.pone.0038029. Epub 2012 Jun 6.


Presynaptic Active Zone Density during Development and Synaptic Plasticity.

Clarke GL, Chen J, Nishimune H.

Front Mol Neurosci. 2012 Feb 15;5:12. doi: 10.3389/fnmol.2012.00012. eCollection 2012.


LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.

Maselli RA, Fernandez JM, Arredondo J, Navarro C, Ngo M, Beeson D, Cagney O, Williams DC, Wollmann RL, Yarov-Yarovoy V, Ferns MJ.

Hum Genet. 2012 Jul;131(7):1123-35. doi: 10.1007/s00439-011-1132-4. Epub 2011 Dec 29.


Molecular mechanism of active zone organization at vertebrate neuromuscular junctions.

Nishimune H.

Mol Neurobiol. 2012 Feb;45(1):1-16. doi: 10.1007/s12035-011-8216-y. Epub 2011 Dec 2. Review.


Current status of the congenital myasthenic syndromes.

Engel AG.

Neuromuscul Disord. 2012 Feb;22(2):99-111. doi: 10.1016/j.nmd.2011.10.009. Epub 2011 Nov 21. Review.


Congenital myasthenic syndromes in 2012.

Engel AG.

Curr Neurol Neurosci Rep. 2012 Feb;12(1):92-101. doi: 10.1007/s11910-011-0234-7. Review.


Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.

Liewluck T, Selcen D, Engel AG.

Muscle Nerve. 2011 Nov;44(5):789-94. doi: 10.1002/mus.22176. Epub 2011 Sep 23.


Functional consequences and structural interpretation of mutations of human choline acetyltransferase.

Shen XM, Crawford TO, Brengman J, Acsadi G, Iannaconne S, Karaca E, Khoury C, Mah JK, Edvardson S, Bajzer Z, Rodgers D, Engel AG.

Hum Mutat. 2011 Nov;32(11):1259-67. doi: 10.1002/humu.21560. Epub 2011 Sep 23.


Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction.

Singhal N, Martin PT.

Dev Neurobiol. 2011 Nov;71(11):982-1005. doi: 10.1002/dneu.20953. Review.


Glycosylated synaptomatrix regulation of trans-synaptic signaling.

Dani N, Broadie K.

Dev Neurobiol. 2012 Jan;72(1):2-21. doi: 10.1002/dneu.20891. Review.


Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.

Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M.

Hum Mutat. 2010 Sep;31(9):992-1002. doi: 10.1002/humu.21304. Review.


Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

Huzé C, Bauché S, Richard P, Chevessier F, Goillot E, Gaudon K, Ben Ammar A, Chaboud A, Grosjean I, Lecuyer HA, Bernard V, Rouche A, Alexandri N, Kuntzer T, Fardeau M, Fournier E, Brancaccio A, Rüegg MA, Koenig J, Eymard B, Schaeffer L, Hantaï D.

Am J Hum Genet. 2009 Aug;85(2):155-67. doi: 10.1016/j.ajhg.2009.06.015. Epub 2009 Jul 23. Erratum in: Am J Hum Genet. 2009 Oct;85(4):536.

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