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Neuropediatrics, ISSN 0174-304X, 02/2019, Volume 50, Issue 1, pp. 041 - 045
Abstract Up to 15% of Duchenne's muscular dystrophy (DMD) is caused by nonsense mutations (nm-DMD). In this study, we aimed to evaluate the age at diagnosis,... 
Original Article | nonsense mutation | diagnostic approach | Duchenne's muscular dystrophy | molecular diagnosis | MANAGEMENT | DECADE CRITICAL-ISSUES | PEDIATRICS | DUCHENNE MUSCULAR-DYSTROPHY | AREAS | ATALUREN | CLINICAL NEUROLOGY
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e162 - e163
Journal Article
Human Mutation, ISSN 1059-7794, 09/2018, Volume 39, Issue 9, pp. 1284 - 1298
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1086 - 1105
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e126 - e127
Journal Article
Human genome variation, ISSN 2054-345X, 2019, Volume 6, Issue 1, pp. 24 - 10
Asparagine synthetase deficiency (ASNSD, OMIM #615574) is a rare autosomal recessive neurometabolic inborn error that leads to severe cognitive impairment. It... 
Journal Article
Neuropediatrics, 02/2019, Volume 50, Issue 1, p. 41
Up to 15% of Duchenne's muscular dystrophy (DMD) is caused by nonsense mutations (nm-DMD). In this study, we aimed to evaluate the age at diagnosis,... 
Journal Article
Neuropediatrics, ISSN 0174-304X, 04/2017, Volume 48, Issue 2, pp. 115 - 118
Abstract The posterior reversible encephalopathy syndrome (PRES) is a well-known clinical and radiologic entity mainly affecting the territory of the posterior... 
Short Communication | PRES | magnetic resonance imaging | spinal cord | PEDIATRICS | CLINICAL NEUROLOGY | INVOLVEMENT
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 06/2019, Volume 29, Issue 6, pp. 448 - 455
Recessive mutations in the gene, encoding for a mitochondrial distribution and morphology regulator, have been recently described in a very limited number of... 
Cerebellar atrophy | Ataxia | MSTO1 | Muscular dystrophy | Progressive cerebellar involvement | PROTEIN | MITOCHONDRIAL | RECESSIVE MUTATIONS | MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
Neuropediatrics, ISSN 0174-304X, 08/2016, Volume 47, Issue 4, pp. 259 - 262
Abstract Stroke-like migraine attacks after radiation therapy (SMART) syndrome is a rare complication of cranial radiotherapy characterized by migraine-like... 
Short Communication | radiotherapy | SMART syndrome | children | PEDIATRICS | CRANIAL IRRADIATION | CLINICAL NEUROLOGY
Journal Article
Neuropediatrics, ISSN 0174-304X, 12/2017, Volume 48, Issue 6, pp. 477 - 481
Abstract Inherited CD59 deficiency is a rare autosomal recessive disorder characterized by chronic hemolysis, recurrent ischemic central nervous system... 
Short Communication | CD59 deficiency | neonatal onset | recurrent GBS | ECULIZUMAB | THERAPY | HEMOLYSIS | PEDIATRICS | PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA | CLINICAL NEUROLOGY | P.CYS89TYR MUTATION
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S123 - S123
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2017, Volume 377, Issue 18, pp. 1723 - 1732
Journal Article
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