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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1 :phenotype...
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'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mut...
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'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mut...
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'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mut...
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'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mut...
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Document Type
Article in Journal/Newspaper
3
Text
2
Author
Rasmussen, Magnhild
Bahlo, Melanie
4
Gecz, Jozef
4
Hjalgrim, Helle
4
Kamsteeg, Erik-Jan
4
Lehesjoki, Anna-Elina
4
Marquardt, Iris
4
Prescott, Trine
4
Said, Ines
4
Aaberg, Kari M.
3
Bayly, Marta A.
3
Berkovic, Samuel F.
3
Bloem, Bastiaan R.
3
Boissé Lomax, Lysa
3
Corbett, Mark A.
3
Dibbens, Leanne M.
3
Gandolfo, Luke C.
3
Korenke, G. Christoph
3
Stray-Pedersen, Asbjørg
3
Vears, Danya F.
3
Verhagen, Judith M. A.
3
Vlaar, Annemarie M.
3
Willemsen, Michèl
3
de Coo, Irenaeus F.
3
Møller, Rikke S.
2
OSullivan, John D.
2
Aaberg, Kari M
1
Amartino, Hernan
1
Batbayli, Mustafa
1
Bayly, Marta A
1
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Topic
Adolescent
2
Adult
2
Child
2
Female
2
Humans
2
Male
2
Mutation
2
Phenotype
2
Young Adult
2
2728 Clinical Neurology
1
Amino Acid Metabolism
1
Amino Acid Sequence
1
Ataxia
1
Codon
1
Creatine kinase
1
DNA
1
DNA Mutational Analysis
1
Electroencephalography
1
Europe
1
GOSR2
1
Genotype
1
Inborn Errors
1
Infant
1
Journal Article
1
Methylmalonic Acid
1
Missense
1
Mitochondrial
1
Mitochondrial Diseases
1
Mitochondrial Encephalomyopathies
1
Myoclonic Epilepsies
1
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Content Provider
HighWire Press (Stanford University)
2
KU Leuven: Lirias
1
The University of Queensland: UQ eSpace
1
University of Copenhagen: Research
1
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Geographic location
Norway
4
Faroe Islands
1
Language
English
5
Open Polar Keyword
Northern Norway
4
Faroe Islands
1
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