Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan
This study expands the molecular genetic spectrum of HMSN and HMSN plus type neuropathies in Pakistan and facilitates accurate diagnosis, genetic counseling, and clinical management for affected families.
Authors
- Shamim Saleha (ORCID: https://orcid.org/0000-0002-1332-0666)
- Arfa Azeem
- Nikol Voutsina (ORCID: https://orcid.org/0000-0002-1744-3989)
- Nishanka Ubeyratna
- Zakir Jan
- Niamat Khan (ORCID: https://orcid.org/0000-0002-6615-6871)
- Andrew H. Crosby (ORCID: https://orcid.org/0000-0003-3667-9054)
- Saadullah Khan (ORCID: https://orcid.org/0000-0001-5037-1473)
- Lettie E. Rawlins (ORCID: https://orcid.org/0000-0002-6764-253X)
- Asif Naveed Ahmed
- Emma L. Baple (ORCID: https://orcid.org/0000-0002-6637-3411)
Institutions
- Kohat University of Science and Technology (PK)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Heavitree Hospital (GB)
- Exeter Hospital (GB)
- Pakistan Institute of Medical Sciences (PK)
Publication Details
- Journal
- BMC Neurology
- Published
- 2024-10-16
- DOI
- https://doi.org/10.1186/s12883-024-03882-y
- Citations
- 2
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.54
Funders
- National Institute for Health and Care Research
- Department of Health and Social Care
- University of Exeter
- Higher Education Commision, Pakistan