Conformational change of syntaxin linker region induced by Munc13s initiates SNARE complex formation in synaptic exocytosis, The EMBO Journal, vol.36, issue.6, pp.816-845, 2017. ,
DOI : 10.15252/embj.201695775
What Have We Learned from the Congenital Myasthenic Syndromes, Journal of Molecular Neuroscience, vol.116, issue.Suppl. 1, pp.143-53, 2010. ,
DOI : 10.1001/jama.1937.02780090027008
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3050586/pdf
Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations, Human Mutation, vol.270, issue.1, pp.881-93, 2015. ,
DOI : 10.1074/jbc.270.49.29111
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537391/pdf
cause a presynaptic congenital myasthenic syndrome, Annals of Neurology, vol.17, issue.pt 7, pp.597-603, 2017. ,
DOI : 10.1038/nrn.2015.16
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy, Brain, vol.137, issue.9, pp.2429-2472, 2014. ,
DOI : 10.1093/brain/awu160
URL : https://academic.oup.com/brain/article-pdf/137/9/2429/13797931/awu160.pdf
Stac3 is a component of the excitation???contraction coupling machinery and mutated in Native American myopathy, Nature Communications, vol.8, issue.4, 1952. ,
DOI : 10.1371/journal.pgen.1000372
Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit., Proceedings of the National Academy of Sciences, vol.92, issue.3, pp.758-62, 1995. ,
DOI : 10.1073/pnas.92.3.758
Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients, Human Mutation, vol.16, issue.202, pp.1474-84, 2012. ,
DOI : 10.1016/j.nmd.2005.10.001
Congenital myasthenic syndromes: Recent advances. Current opinion in neurology, pp.565-71, 2016. ,
DOI : 10.1097/wco.0000000000000370
Congenital myasthenic syndromes: Pathogenesis, diagnosis, and treatment. The Lancet Neurology, p.461, 2015. ,
DOI : 10.1016/s1474-4422(14)70201-7
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520251/pdf
The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes, Neuropediatrics, vol.48, issue.4, pp.294-308, 2017. ,
Chapter 2 Reliability of neuromuscular transmission and how it is maintained, Handb Clin Neurol, vol.91, pp.27-101, 2008. ,
DOI : 10.1016/S0072-9752(07)01502-3
mutations causing a treatable neuromuscular syndrome, Neurology, vol.85, issue.22, pp.1964-71, 2015. ,
DOI : 10.1212/WNL.0000000000002185
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664120/pdf
Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability, Neurology, vol.83, issue.24, pp.2247-55, 2014. ,
DOI : 10.1212/WNL.0000000000001079
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277673/pdf
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome, Journal of Neurology, vol.18, issue.202, pp.474-81, 2012. ,
DOI : 10.1016/0896-6273(95)90080-2
Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy, The American Journal of Human Genetics, vol.91, issue.6, pp.1103-1110, 2012. ,
DOI : 10.1016/j.ajhg.2012.09.019
URL : https://doi.org/10.1016/j.ajhg.2012.09.019
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea, The American Journal of Human Genetics, vol.99, issue.3, pp.753-61, 2016. ,
DOI : 10.1016/j.ajhg.2016.06.033
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome, Neurology, vol.88, issue.11, pp.1021-1029, 2017. ,
DOI : 10.1212/WNL.0000000000003720
, vesicular acetylcholine transporter, cause congenital myasthenic syndrome, Neurology, vol.87, issue.14, pp.1442-1450, 2016. ,
DOI : 10.1212/WNL.0000000000003179
The nicotinic acetylcholine receptor: From molecular biology to cognition, Neuropharmacology, vol.96, pp.135-141, 2015. ,
DOI : 10.1016/j.neuropharm.2015.03.024
Neuropharmacology of control of respiratory rhythm and pattern in mature mammals, Pharmacology & Therapeutics, vol.86, issue.3, pp.277-304, 2000. ,
DOI : 10.1016/S0163-7258(00)00059-0
Cholinergic neurotransmission in the preB??tzinger Complex modulates excitability of inspiratory neurons and regulates respiratory rhythm, Neuroscience, vol.130, issue.4, pp.1069-81, 2005. ,
DOI : 10.1016/j.neuroscience.2004.10.028
Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy, The American Journal of Human Genetics, vol.95, issue.3, pp.332-341, 2014. ,
DOI : 10.1016/j.ajhg.2014.08.007
URL : https://doi.org/10.1016/j.ajhg.2014.08.007
Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia, Neurology Genetics, vol.2, issue.5, p.105, 2016. ,
DOI : 10.1212/NXG.0000000000000105
URL : https://doi.org/10.1212/nxg.0000000000000105
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder, Journal of Clinical Investigation, vol.127, issue.3, pp.1005-1023, 2017. ,
DOI : 10.1172/JCI90259DS2
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5330740/pdf
combines myopia, facial tics, and failure of neuromuscular transmission, American Journal of Medical Genetics Part A, vol.53, issue.8, pp.2240-2245, 2017. ,
DOI : 10.1136/jmedgenet-2015-103416
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of ??-Dystroglycan, The American Journal of Human Genetics, vol.93, issue.1, pp.29-41, 2013. ,
DOI : 10.1016/j.ajhg.2013.05.009
cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies, Brain, vol.138, issue.9, pp.2493-504, 2015. ,
DOI : 10.1093/brain/awv185
URL : https://academic.oup.com/brain/article-pdf/138/9/2493/13800333/awv185.pdf
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome, Neuromuscular Disorders, vol.27, issue.6, pp.557-64, 2017. ,
DOI : 10.1016/j.nmd.2017.03.004
mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy, Muscle & Nerve, vol.82, issue.2, pp.334-374, 2017. ,
DOI : 10.1007/s004210050662
Clinical features of the myasthenic syndrome arising from mutations in GMPPB, Journal of Neurology, Neurosurgery & Psychiatry, vol.34, issue.202, pp.802-811, 2016. ,
DOI : 10.1016/j.braindev.2011.06.002
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in ??-dystroglycanopathies, Human Molecular Genetics, vol.15, issue.8, pp.1279-89, 2006. ,
DOI : 10.1093/hmg/ddl045
URL : https://academic.oup.com/hmg/article-pdf/15/8/1279/13934042/ddl045.pdf
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy, Journal of Neurology, vol.2, issue.8, pp.1791-803, 2017. ,
DOI : 10.3233/JND-150074
URL : https://hal.archives-ouvertes.fr/hal-01653176
To build a synapse: signaling pathways in neuromuscular junction assembly, Development, vol.137, issue.7, pp.1017-1050, 2010. ,
DOI : 10.1242/dev.038711
Congenital myasthenic syndromes and the neuromuscular junction, Current Opinion in Neurology, vol.27, issue.5, pp.566-75, 2014. ,
DOI : 10.1097/WCO.0000000000000134
PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION, Neurology, vol.74, issue.6, pp.519-540, 2010. ,
DOI : 10.1212/WNL.0b013e3181cef7f9
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy, Journal of Molecular Medicine, vol.276, issue.6, pp.727-764, 2013. ,
DOI : 10.1074/jbc.M104927200
Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia, Neuromuscular Disorders, vol.21, issue.6, pp.387-95, 2011. ,
DOI : 10.1016/j.nmd.2011.03.002
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia, Neuromuscular Disorders, vol.20, issue.12, pp.796-800, 2010. ,
DOI : 10.1016/j.nmd.2010.07.274
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine, Neuromuscular Disorders, vol.24, issue.8, pp.707-719, 2014. ,
DOI : 10.1016/j.nmd.2014.05.003
The study of normal and abnormal neuromuscular transmission with single fibre electromyography, Journal of Neuroscience Methods, vol.74, issue.2, pp.145-54, 1997. ,
DOI : 10.1016/S0165-0270(97)02245-0
Electrophysiological analysis of neuromuscular synaptic function in myasthenia gravis patients and animal models, Experimental Neurology, vol.270, pp.41-54, 2015. ,
DOI : 10.1016/j.expneurol.2015.01.007
Structure and function of neuromuscular junctions in the vastus lateralis of man. A motor point biopsy study of two groups of patients, Brain, vol.115, issue.2, pp.451-78, 1992. ,
Congenital myasthenic syndromes, Handb Clin Neurol, vol.91, pp.285-331, 2008. ,
DOI : 10.1016/S0072-9752(07)01510-2
The functional organization of motor nerve terminals, Progress in Neurobiology, vol.134, pp.55-103, 2015. ,
DOI : 10.1016/j.pneurobio.2015.09.004
Safety factor at the neuromuscular junction, Progress in Neurobiology, vol.64, issue.4, pp.393-429, 2001. ,
DOI : 10.1016/S0301-0082(00)00055-1
Short-Term Synaptic Plasticity, Annual Review of Physiology, vol.64, issue.1, pp.355-405, 2002. ,
DOI : 10.1146/annurev.physiol.64.092501.114547
Facilitation, Augmentation, and Potentiation of Transmitter Release, Progress in Brain Research, vol.49, pp.175-82, 1979. ,
DOI : 10.1016/S0079-6123(08)64631-2
Co-operative action of calcium ions in transmitter release at the neuromuscular junction, The Journal of Physiology, vol.193, issue.2, pp.419-451, 1967. ,
DOI : 10.1113/jphysiol.1967.sp008367
Active Zones and the Readily Releasable Pool of Synaptic Vesicles at the Neuromuscular Junction of the Mouse, Journal of Neuroscience, vol.31, issue.6, pp.2000-2008, 2011. ,
DOI : 10.1523/JNEUROSCI.4663-10.2011
Synaptic Pathophysiology and Treatment of Lambert-Eaton Myasthenic Syndrome, Molecular Neurobiology, vol.29, issue.202, pp.456-63, 2015. ,
DOI : 10.1523/JNEUROSCI.4434-08.2009
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362862/pdf
Motor Nerve Terminal Calcium Channels in Lambert-Eaton Myasthenic Syndrome., Annals of the New York Academy of Sciences, vol.394, issue.1 Calcium Chann, pp.278-90, 1989. ,
DOI : 10.1126/science.2447652
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function ,
URL : https://hal.archives-ouvertes.fr/inserm-00409064
LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z???) agrin, Human Genetics, vol.60, issue.2, pp.1123-1158, 2012. ,
DOI : 10.1016/j.neuron.2008.10.006
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795461/pdf
Lrp4 is a retrograde signal for presynaptic differentiation at neuromuscular synapses, Nature, vol.283, issue.7416, pp.438-480, 2012. ,
DOI : 10.1074/jbc.M805729200
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3448831/pdf
Distinct Roles of Muscle and Motoneuron LRP4 in Neuromuscular Junction Formation, Neuron, vol.75, issue.1, pp.94-107, 2012. ,
DOI : 10.1016/j.neuron.2012.04.033
Trans-synaptic homeostasis at the myasthenic neuromuscular junction, Frontiers in Bioscience, vol.22, issue.7, pp.1033-51, 2017. ,
DOI : 10.2741/4532
Synaptic Homeostasis and Its Immunological Disturbance in Neuromuscular Junction Disorders, International Journal of Molecular Sciences, vol.6, issue.4, 2017. ,
DOI : 10.1038/nature07456
URL : https://doi.org/10.3390/ijms18040896
Decay of postexercise augmentation in the Lambert-Eaton myasthenic syndrome: Effect of cooling, Neurology, vol.50, issue.4, pp.1083-1090, 1998. ,
DOI : 10.1212/WNL.50.4.1083
Effect of 3,4-diaminopyridine on the time course of decay of compound muscle action potential augmentation in the Lambert-Eaton myasthenic syndrome, Muscle & Nerve, vol.16, issue.9, pp.1196-1204, 1998. ,
DOI : 10.1212/WNL.34.4.480
Development of innervation of skeletal muscle fibers in man: Relation to acetylcholine receptors, The Anatomical Record, vol.95, issue.3, pp.553-62, 1993. ,
DOI : 10.1007/978-1-4684-1131-7_10
Recherches histochimiques sur la distribution des activités cholinestérasiques au niveau de la synapse myoneurale, Arch Anat Micr Morphol Exp, vol.41, pp.352-92, 1952. ,
A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release, Annals of Neurology, vol.232, issue.4 ,
DOI : 10.1113/jphysiol.1972.sp010000
Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission Neuromuscular synaptogenesis: Coordinating partners with multiple functions, Nat Rev Neurosci, vol.6415, issue.11, pp.703-721, 2014. ,
Schwann Cells Sense and Control Acetylcholine Spillover at the Neuromuscular Junction by ??7 Nicotinic Receptors and Butyrylcholinesterase, Journal of Neuroscience, vol.34, issue.36, pp.11870-83, 2014. ,
DOI : 10.1523/JNEUROSCI.0329-14.2014
URL : http://www.jneurosci.org/content/jneuro/34/36/11870.full.pdf
Mode Switching Kinetics Produced by a Naturally Occurring Mutation in the Cytoplasmic Loop of the Human Acetylcholine Receptor ?? Subunit, Neuron, vol.20, issue.3, pp.575-88, 1998. ,
DOI : 10.1016/S0896-6273(00)80996-4
Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor ?? Subunit Gene: Identification and Functional Characterization of Six New Mutations, Human Molecular Genetics, vol.6, issue.5, pp.753-66, 1997. ,
DOI : 10.1093/hmg/6.5.753
Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker, Brain, vol.128, issue.2, pp.345-55, 2005. ,
DOI : 10.1093/brain/awh364
URL : https://academic.oup.com/brain/article-pdf/128/2/345/1125636/awh364.pdf
Mutation causing congenital myasthenia reveals acetylcholine receptor ??/?? subunit interaction essential for assembly, Journal of Clinical Investigation, vol.104, issue.10, pp.1403-1413, 1999. ,
DOI : 10.1172/JCI8179
URL : http://www.jci.org/articles/view/8179/files/pdf
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR ?? subunit mutation, Neurology, vol.59, issue.12, pp.1881-1889, 2002. ,
DOI : 10.1212/01.WNL.0000042422.87384.2F
Congenital myasthenia???related AChR ?? subunit mutation interferes with intersubunit communication essential for channel gating, Journal of Clinical Investigation, vol.118, issue.5, pp.1867-76, 2008. ,
DOI : 10.1172/JCI34527
URL : http://www.jci.org/articles/view/34527/files/pdf
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7, Journal of Neurology, vol.6, issue.5, pp.754-66, 2010. ,
DOI : 10.1016/S0959-4388(96)80014-6
Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia', Brain, vol.129, issue.8, pp.2061-76, 2006. ,
DOI : 10.1093/brain/awl200
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases, The American Journal of Human Genetics, vol.100, issue.5, pp.695-705, 2017. ,
DOI : 10.1016/j.ajhg.2017.04.003
The DNA of a nation, Nature, vol.94, issue.7566, pp.503-508, 2015. ,
DOI : 10.1016/j.ajhg.2014.03.010
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery, Human Mutation, vol.2011, issue.R1, pp.915-936, 2015. ,
DOI : 10.1093/database/bar026
RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research, Journal of General Internal Medicine, vol.29, issue.9, pp.780-787, 2014. ,
DOI : 10.1038/nbt.1958
URL : https://link.springer.com/content/pdf/10.1007%2Fs11606-014-2908-8.pdf
Congenital Myasthenic Syndromes: Current Diagnostic and Therapeutic Approaches, Neuropediatrics, vol.43, issue.04, pp.184-93, 2012. ,
DOI : 10.1055/s-0032-1323850
3,4-diaminopyridine. A potent new potassium channel blocker, Biophysical Journal, vol.22, issue.3, pp.507-519, 1978. ,
DOI : 10.1016/S0006-3495(78)85503-9
The therapy of congenital myasthenic syndromes, Neurotherapeutics, vol.12, issue.suppl 3, pp.252-259, 2007. ,
DOI : 10.1016/S0960-8966(01)00336-4
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7, Neurology, vol.74, issue.19, pp.1517-1540, 2010. ,
DOI : 10.1212/WNL.0b013e3181dd43bf
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2875925/pdf
Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations, Neuromuscular Disorders, vol.23, issue.2, pp.170-175, 2013. ,
DOI : 10.1016/j.nmd.2012.11.004
URL : https://doi.org/10.1016/j.nmd.2012.11.004
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation, Journal of the Neurological Sciences, vol.331, issue.1-2, pp.155-162, 2013. ,
DOI : 10.1016/j.jns.2013.05.017
Adrenaline and Failure of Neuromuscular Transmission, Nature, vol.180, issue.4590, pp.814-819, 1957. ,
DOI : 10.1038/180814b0
Ephedrine: effects on neuromuscular transmission, Brain Research, vol.623, issue.1, pp.167-71, 1993. ,
DOI : 10.1016/0006-8993(93)90025-I
Block of the endplate acetylcholine receptor channel by the sympathomimetic agents ephedrine, pseudoephedrine, and albuterol, Brain Research, vol.740, issue.1-2, pp.346-52, 1996. ,
DOI : 10.1016/S0006-8993(96)00894-3
Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease, Proceedings of the National Academy of Sciences, vol.13, issue.2 Pt 1, pp.746-50, 2016. ,
DOI : 10.1016/S0092-8674(00)81410-5
URL : https://hal.archives-ouvertes.fr/hal-01306149