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Journal of Medical Genetics, ISSN 0022-2593, 03/2016, Volume 53, Issue 3, pp. 190 - 199
Journal Article
Journal Article
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e230 - e231
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2014, Volume 50, Issue 1, pp. 104 - 107
Abstract Background Autosomal recessive axonal neuropathy with neuromyotonia is a recently described entity associated to the HINT1 gene, encoding histidine... 
Pediatrics | Neurology | neuropathy | HINT1 | axonal neuropathy | myotonia | neuromyotonia | DIAGNOSIS | MARIE-TOOTH-DISEASE | HEREDITARY MOTOR | MANAGEMENT | PEDIATRICS | NATURAL-HISTORY | CLINICAL NEUROLOGY | Humans | Adolescent | Male | Consanguinity | Isaacs Syndrome - complications | Peripheral Nervous System Diseases - complications | Genes, Recessive | Molecular genetics | Histidine | Protein binding
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e229 - e230
Journal Article
International Journal of Developmental Neuroscience, ISSN 0736-5748, 12/2015, Volume 47, Issue Pt A, pp. 99 - 99
This article has been removed: please see Elsevier Policy on Article Withdrawal (https://www.elsevier.com/about/our-business/policies/article-withdrawal) This... 
Journal Article
Journal Article
Epileptic Disorders, ISSN 1294-9361, 03/2014, Volume 16, Issue 1, pp. np - np
Epilepsy is associated with an extended spectrum of behaviour, psychiatric problems, and learning difficulties. The aim of this study was to establish the... 
Journal Article
Human Mutation, ISSN 1059-7794, 10/2018, Volume 39, Issue 10, p. 1314
Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the... 
Genetic disorders | Laminin | Gene mutations | Analysis | Genes | Genetic aspects
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2010, Volume 42, Issue 3, pp. 196 - 200
Journal Article
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