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Neurology, ISSN 0028-3878, 08/2018, Volume 91, Issue 8, pp. 337 - 339
Journal Article
Pediatric Neurology, ISSN 0887-8994, 05/2018, Volume 82, pp. 5 - 6
Journal Article
Neurology, ISSN 0028-3878, 07/2018, Volume 91, Issue 8, pp. 337 - 339
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 10/2018, Volume 33, Issue 11, pp. 746 - 747
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 2015, Volume 30, Issue 2, pp. 160 - 169
Journal Article
Muscle & Nerve, ISSN 0148-639X, 08/2017, Volume 56, Issue 2, pp. 230 - 236
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 11/2013, Volume 28, Issue 11, pp. 1517 - 1520
Spinal muscular atrophy is an autosomal recessive neurodegenerative disease caused by homozygous mutation to the survival motor neuron 1 (SMN1) gene.... 
diabetes mellitus | spinal muscular atrophy | diabetic ketoacidosis | survival motor neuron 1 gene | PROTEIN | MOUSE MODEL | FATTY-ACID-METABOLISM | PEDIATRICS | MICE | CARDIAC DEFECTS | CLINICAL NEUROLOGY | Animal models
Journal Article
Journal of Pediatric Neurology, ISSN 1304-2580, 2015, Volume 13, Issue 4, pp. 168 - 173
  Movement disorders constitute an important and distinctive clinical consequence of glucose transporter type 1 deficiency. Gait disturbances and dyskinesias... 
tremor | chorea | dyskinesias | ataxia | glucose transporter | dystonia | Genotype & phenotype | Diet | Epilepsy | Cognitive ability | Headaches | Mutation | Metabolism
Journal Article
Neurology, ISSN 0028-3878, 09/2010, Volume 75, Issue 12, p. 1122
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2017, Volume 377, Issue 18, pp. 1723 - 1732
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 10/2014, Volume 29, Issue 10, pp. NP105 - NP110
Journal Article
Muscle & Nerve, ISSN 0148-639X, 07/2014, Volume 50, Issue 1, pp. 34 - 39
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2018, Volume 378, Issue 7, pp. 625 - 635
Journal Article