Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Many neurological conditions are caused by immensely heterogeneous gene mutations. The diagnostic process is often long and complex with most patients undergoing multiple invasive and costly investigations without ever reaching a conclusive molecular diagnosis. The advent of massively parallel, next...
Prif Awduron: | Németh, A, Kwasniewska, A, Lise, S, Parolin Schnekenberg, R, Becker, E, Bera, K, Shanks, M, Gregory, L, Buck, D, Zameel Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Morrison, P, Worth, P, Taylor, M, Tolmie, J, O'Regan, M, Valentine, R, Packham, E, Evans, J, Seller, A, Ragoussis, J |
---|---|
Fformat: | Journal article |
Iaith: | English |
Cyhoeddwyd: |
2013
|
Eitemau Tebyg
-
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
gan: Németh, A, et al.
Cyhoeddwyd: (2013) -
Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS)
gan: Nemeth, A, et al.
Cyhoeddwyd: (2012) -
Next Generation Sequencing (NGS) of Genes Associated with Congenital and Neurodegenerative Ataxia
gan: Kwasniewska, A, et al.
Cyhoeddwyd: (2011) -
Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD)
gan: Shanks, M, et al.
Cyhoeddwyd: (2011) -
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
gan: Shanks, M, et al.
Cyhoeddwyd: (2013)