Saraswathi Nashi
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View article: Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Masquerading Primary Progressive Aphasia
Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Masquerading Primary Progressive Aphasia Open
Sir, Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal dominant neurodegenerative disease resulting from heterozygous mutations in the colony-stimulating factor 1 receptor gene.[1] ALSP is …
View article: Palliative care needs and care giver burden in neurodegenerative diseases: A cross sectional study
Palliative care needs and care giver burden in neurodegenerative diseases: A cross sectional study Open
Background and Aims: Palliative care is an important area of intervention in neurodegenerative diseases. The aim of this study is to understand the relationship between Palliative Care Needs and Caregiver Burden among persons diagnosed wit…
View article: Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort Open
The reading-frame rule held in 90% to 94% of children, which is consistent with reports from other parts of the world. However, testing by MLPA is a limitation, and advanced sequencing methods including analysis of the structure of mutant …