Author

Niklas Dahl

2 papers indexed here

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Open access Sep 2026

Genetic basis of Charcot-Marie-Tooth disease in Pakistani consanguineous families

Charcot-Marie-Tooth (CMT) is a group of inherited neuromuscular disorders with diverse clinical features such as muscle weakness and atrophy of the distal regions, foot deformities, sensory loss and decreased or absent reflexes. With the diverse inheritance patterns including dominant, recessive, and X-linked, it exhib...

Zafar Ali, M. Jameel, J. Klar et al. · Frontiers in Neurology · 0 citations

Open access Sep 2026

Exome Sequencing Identifies Novel Variants Causing Hearing Loss in Three Consanguineous Pakistani Families: Insights From Genomics and Bioinformatics Analyses.

BACKGROUND Hearing impairment is a genetically heterogeneous disorder and represents a significant health concern, particularly in consanguineous populations where autosomal recessive forms are more prevalent. Pakistani families provide an important population for investigating the genetic basis of hereditary hearing i...

Zafar Ali, Najeeb Ullah, Muneeba Bibi et al. · Annals of Human Genetics · 0 citations