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Neuropediatrics, ISSN 0174-304X, 07/2019
Abstract Mutations in GABA A -receptor subunit genes are associated with a heterogeneous spectrum of epilepsies. Patients with epilepsy caused by mutations in... 
Resident & Fellow Section: Short Communication
Journal Article
Neuropediatrics, 07/2019
Mutations in GABA -receptor subunit genes are associated with a heterogeneous spectrum of epilepsies. Patients with epilepsy caused by mutations in a specific... 
Journal Article
Journal of human genetics, 08/2019
Rapid progress has recently been made in the elucidation of the genetic basis of childhood-onset inherited generalized dystonia (IGD) due to the implementation... 
Journal Article
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 06/2018, Volume 37, Issue 2, p. 121
Mutations in the Nebulin gene (NEB) may cause core-rod myopathy. The large size of the gene so far prevented inclusion of its routine analysis by didesoxy... 
Muscle Proteins - genetics | Magnetic Resonance Imaging | Myopathies, Nemaline - genetics | Pedigree | Humans | Middle Aged | Female | High-Throughput Nucleotide Sequencing | Codon, Nonsense | Muscle, Skeletal - pathology
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 08/2019, Volume 64, Issue 8, pp. 803 - 813
Rapid progress has recently been made in the elucidation of the genetic basis of childhood-onset inherited generalized dystonia (IGD) due to the implementation... 
COMPLEX | PROTEIN | VARIANTS | GENE | SERVER | MINERALIZATION | SEQUENCE | GENETICS & HEREDITY | DEEP-BRAIN-STIMULATION | ASSOCIATION
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
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 09/2018, Volume 37, Issue 3, p. 210
The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the... 
Journal Article
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