Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized by overlapping clinical symptoms including progressive cerebellar ataxia, spastic paraparesis, cognitive deficiencies, skeletal/muscular and ocular abnormalities. The objective of the present study is...

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Detalles Bibliográficos
Autores principales: Saadi, Saadia Maryam, Cali, Elisa, Khalid, Lubaba Bintee, Yousaf, Hammad, Zafar, Ghazala, Khan, Haq Nawaz, Sher, Muhammad, Vona, Barbara, Abdullah, Uzma, Malik, Naveed Altaf, Klar, Joakim, Efthymiou, Stephanie, Dahl, Niklas, Houlden, Henry, Toft, Mathias, Baig, Shahid Mahmood, Fatima, Ambrin, Iqbal, Zafar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379343/
https://www.ncbi.nlm.nih.gov/pubmed/37510308
http://dx.doi.org/10.3390/genes14071404

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379343/
https://www.ncbi.nlm.nih.gov/pubmed/37510308
http://dx.doi.org/10.3390/genes14071404

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