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Human Mutation, ISSN 1059-7794, 10/2019, Volume 40, Issue 10, pp. 1676 - 1683
A subset of a larger and heterogeneous class of disorders, the congenital myasthenic syndromes (CMS) are caused by pathogenic variants in genes encoding... 
SLC5A7 | fetal akinesia syndrome | high‐affinity choline transporter 1 | congenital myasthenia syndrome | autosomal recessive | Phenotypes | Genetic counseling | Akinesia | Sodium | Congenital defects | Choline | Fetuses | Neuromuscular junctions | Affinity | Myasthenia | Genotypes
Journal Article
Psychoneuroendocrinology, ISSN 0306-4530, 11/2018, Volume 97, pp. 28 - 36
To examine the impact of polymorphic variation in the solute carrier family 5 member 7 ( ) gene on autonomic nervous system (ANS) reactivity indexed by... 
SLC5A7 | Acetylcholine | Respiratory sinus arrhythmia | Temperament | Self-regulation | Health disparities | UNITED-STATES | PSYCHIATRY | BEHAVIOR | RISK | CHILDHOOD | NEUROSCIENCES | AFFINITY CHOLINE TRANSPORTER | POLYVAGAL PERSPECTIVE | HEART-RATE-VARIABILITY | ENDOCRINOLOGY & METABOLISM | VAGAL REGULATION | AGE | Neurosciences | Heart beat | Arrhythmia | Analysis | Genes | Infants
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2018, Volume 28, Issue 10, pp. 881 - 884
Congenital myasthenic syndromes are a group of genetically determined rare diseases resulting from ultrastructural alterations in synaptic proteins. Up to 32... 
Repetitive stimulation | Electrophysiology | SLC5A7 gene | Presynaptic choline transporter | Congenital myasthenic syndrome | MIM#617143 | EPISODIC APNEA | CHOLINE TRANSPORTER | NEUROSCIENCES | CLINICAL NEUROLOGY | Proteins | Acute respiratory distress syndrome | Genetic disorders | Analysis | Choline | Genes | Genetic research | Genetic aspects | Neurophysiology
Journal Article
Journal Article
Psychiatry Research, ISSN 0165-1781, 2014, Volume 219, Issue 3, pp. 674 - 679
Journal Article
IJC Heart & Vasculature, ISSN 2352-9067, 06/2015, Volume 7, Issue C, pp. 151 - 152
Journal Article
Journal Article
Journal of Neurodevelopmental Disorders, ISSN 1866-1947, 12/2009, Volume 1, Issue 4, pp. 252 - 263
Journal Article
2016
Neurodegenerative diseases are becoming increasingly prevalent due to the ageing population, and are among the major contributors to disability and disease... 
dHMN-V | SLC5A7 | dHMN-VII | Hypotonia | Charcot-Marie-Tooth disease | Mouse model | Distal hereditary motor neuropathy type 5 | High affinity choline transporter | Distal hereditary motor neuropathy type 7 | CHT
Dissertation
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