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Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 88, Issue 2, pp. 162 - 172
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2/2011, Volume 34, Issue 1, pp. 197 - 201
Journal Article
Journal of Neurology, ISSN 0340-5354, 5/2019, Volume 266, Issue 5, pp. 1107 - 1112
Collagen XIII is a non-fibrillar transmembrane collagen which has been long recognized for its critical role in synaptic maturation of the neuromuscular... 
Neurology | Neurosciences | Autosomal recessive | Medicine & Public Health | COL13A1 | Collagen type XIII alpha 1 chain | Congenital myasthenic syndrome | Neuromuscular junction | Neuroradiology | PAIN | CLINICAL NEUROLOGY | Eyelid | Phenotypes | Collagen | Muscles | Neuromuscular junctions | Salbutamol | Dysphagia | Mutation | Acetylcholinesterase | Patients
Journal Article
Journal Article
Neuropediatrics, ISSN 0174-304X, 08/2017, Volume 48, Issue 4, pp. 294 - 308
Abstract The congenital myasthenic syndromes (CMS) are a diverse group of diseases, which result in an increasing range of phenotypes, but which are all due to... 
Review Article | congenital myasthenic syndromes | genetic diagnosis | neurophysiology | neuromuscular junction | PLATE ACETYLCHOLINESTERASE DEFICIENCY | MUSCULAR-DYSTROPHY | RECEPTOR | CLINICAL NEUROLOGY | EPSILON-SUBUNIT | MUTATIONS CAUSE | AFFINITY CHOLINE TRANSPORTER | CHANNEL | EPISODIC APNEA | MOTOR NEUROPATHY | PEDIATRICS | NEUROMUSCULAR-JUNCTION
Journal Article
Neuropediatrics, ISSN 0174-304X, 09/2019
Abstract Nicolaides–Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the SMARCA2 gene. Clinical features include craniofacial dysmorphia... 
Short Communication
Journal Article
Journal Article
FRONTIERS IN NEUROSCIENCE, ISSN 1662-453X, 09/2019, Volume 13
Voltage-gated sodium channel Nav1.9 is a threshold channel that regulates action potential firing. Nav1.9 is preferentially expressed in myenteric neurons, and... 
LOCALIZATION | pain | ACTIVATION | channelopathy | PHENOTYPE | NEUROSCIENCES | INSENSITIVITY | excitability | sodium channel | SCN11A | NA(V)1.9 | DRG | NEURONS | NAN | RESISTANT SODIUM-CHANNELS | EXPRESSION | Phenotypes | Pain perception | Neurons | Channelopathy | Action potential | Neuropathy | Proteins | Neurology | Dorsal root ganglia | Pain | Sodium | N-Terminus | Nociceptors | Sodium channels (voltage-gated) | Mutation | Trigeminal ganglion | Dorsal roots | Constipation | Age
Journal Article
Brain, ISSN 0006-8950, 3/2008, Volume 131, Issue 3, pp. 747 - 759
Journal Article