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apnéeSynonyme(s)apnoea apnea |
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Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
McMacken G, Whittaker RG, Evangelista T, et al.
Journal of neurology, 2018, 265, 1, p. 194-203
Sleep in infants with congenital myasthenic syndromes.
Caggiano S, Khirani S, Verrillo E, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2017, Epub, 10 p.
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome
O'Grady GL, Verschuuren C, Yuen M, et al.
Neurology, 2016, 87, 14, p. 1442-1448
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
Bauché S, O'Regan S, Azuma Y, et al.
American journal of human genetics, 2016, 99, p. 753-61
Sleep architecture in children with spinal muscular atrophy type 2
Verrillo E, Pavone M, Bruni O, et al.
Sleep medicine, 2016, 20, 4 p.
Sleep disorders in patients with myasthenia gravis: a systematic review.
Fernandes Oliveira E, Nacif SR, Alves Pereira N, et al.
Journal of physical therapy science, 2015, 27, 6, p. 2013-8
Sleep and breathing disorders in myotonic dystrophy type 2.
Leonardis L, Blagus R, Dolenc Groselj L
Acta neurologica Scandinavica, 2014, Epub
Sleep disorders in myotonic dystrophy type 2: a controlled polysomnographic study and self-reported questionnaires.
Romigi A, Albanese M, Placidi F, et al.
European journal of neurology : the official journal of the European Federation of Neurological Societies, 2014, 21, 6, p. 929-34
Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants : clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis
Dilena R, Abicht A, Sergi P, et al.
Journal of child neurology, 2013, Epub 2013/01/08
What does built-in software of home ventilators tell us ? An observational study of 150 patients on home ventilation
Pasquina P, Adler D, Farr P, et al.
Respiration, 2012, 83, 4, p. 293-299
Unsuspected manifestations of Pompe disease : focus on respiratory disturbances (Steps forward in Pompe disease 3rd European Symposium)
Confalonieri M
Congrès : Steps forward in Pompe disease 3rd European Symposium (20-21/11/2009; Munich, Allemagne)
Clinical Therapeutics, 2010, 32, Suppl. B, p. S44-S45
What have we learned from the congenital myasthenic syndromes
Engel AG, Shen XM, Selcen D, et al.
Journal of molecular neuroscience, 2010, 40, 1-2, p. 143-153
Comprendre et diagnostiquer les syndromes myasthéniques congénitaux
Eymard B
Neurologie pratique, 2008, 40, p. 11-13
Noninvasive ventilation in children with spinal muscular atrophy types 1 and 2
Petrone A, Pavone M, Chiarini Testa MB, et al.
American journal of physical medicine and rehabilitation, 2007, 86, 3, p. 216-221
Troubles du sommeil et maladies neuromusculaires
Viau F
Revue des maladies respiratoires, 2006, 23,S68-7S70, p. 7
Congenital myasthenic syndrome with episodic apnea in a female infant caused by two diferent compound heterozygous mutations of the CHAT-gene (abstract : congrès international de Myologie, 2005)
Sasso A, Paucic-Kirincic E, Lah-Tomulic K, et al.
Congrès : Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France)
2005, p. 252
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants
Barisic N, Müller JS, Paucic-Kirincic E, et al.
European journal of paediatric neurology, 2005, 9, 1, p. 7-12
Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency : spinal muscular atrophy with respiratory distress type 1 (SMARD1)
Appleton RE, Hübner C, Grohmann K, et al.
Developmental medicine and child neurology, 2004, 46, 8, p. 576
Outcome of non-invasive positive pressure ventilation in paediatric neuromuscular disease
Katz S, Selvadurai H, Keilty K, et al.
Archives of disease in childhood, 2004, 89, 2, p. 121-124
Congenital myasthenic syndromes : multiple molecular targets at the neuromuscular junction
Engel AG, Ohno K, Shen XM, et al.
Annals of the New York Academy of Sciences, 2003, 998, p. 138-160
Sleep disordered breathing in neurologic diseases
Bassetti L, Gugger M
Swiss medical weekly, 2002, 132, p. 109-15
Congenital myasthenic syndrome associated with episodic apnea and sudden infant death
Byring RF, Pihko H, Tsujino A, et al.
Neuromuscular disorders : NMD, 2002, 12, 6, p. 548-553
