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1. Phenotype variability and allelic heterogeneity in KMT2B-Associated disease

2. SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage

9. SPG11-related parkinsonism: Clinical profile, molecular imaging and l -dopa response

15. Identification of ALS5/SPG11/ KIAA1840 Mutations in Patients with Autosomal Recessive Form of Charcot-Marie-Tooth Disease Type 2 (S44.002)

17. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

18. ALS5/SPG11/KIAA1840mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

22. Long‐Term miR‐669a Therapy Alleviates Chronic Dilated Cardiomyopathy in Dystrophic Mice

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