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JOURNAL OF NEUROLOGY (2014)
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Debabrata Ghosh et al.
JOURNAL OF CHILD NEUROLOGY (2013)
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Robert A. Wilcox et al.
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Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients
I. Trender-Gerhard et al.
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MOVEMENT DISORDERS (2009)
Myoclonus-dystonia: Significance of large SGCE deletions
A. Grunewald et al.
HUMAN MUTATION (2008)
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Nardo Nardocci et al.
MOVEMENT DISORDERS (2008)
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes
ST du Montcel et al.
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Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia
K Grundmann et al.
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M Grabowski et al.
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Myoclonus-dystonia syndrome:: ε-sarcoglycan mutations and phenotype
F Asmus et al.
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