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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
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, 21, 6, p 842
Sleep architecture in children with spinal muscular atrophy type 2
Verrillo E, Pavone M, Bruni O, et al.
Sleep medicine, 2016, 20, p 1
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, 3, p 753
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
Sleep and breathing disorders in myotonic dystrophy type 2
Leonardis L, Blagus R, Dolenc Groselj L
Acta neurologica Scandinavica, 2015, 132, 1, p 42
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
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 & 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
