Associated Papers
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.
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Neurology. Genetics, 2024
Utility of clinical exome sequencing in progressive myoclonus epilepsy syndromes: An exploratory analysis.
Jose M et al.
Clinical Genetics, 2022
Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.
Bessa C et al.
Molecular Genetics and Metabolism, 2006
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