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Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

[PDF] from mit.eduY Erlich, S Edvardson, E Hodges, S Zenvirt… - Genome …, 2011 - genome.cshlp.org
Whole exome sequencing has become a pivotal methodology for rapid and cost-effective detection
of pathogenic variations in Mendelian disorders. A major challenge of this approach is determining
the causative mutation from a substantial number of bystander variations that do not play ...
Cited by 5 - Related articles - All 8 versions

… OF HTLV-1 CORRELATES WITH PROVIRAL LOAD AND THE DEVELOPMENT OF HTLV-1 ASSOCIATED MYELOPATHY/TROPICAL SPASTIC PARAPARESIS (HAM …

LA Pinto, B Galvão, RC Junior… - REVISTA …, 2011 - revistacienciasmedicaspe.com.br
Background: The spontaneous proliferation of PBMCs in individuals infected with the Human
T-Lymphocyte Virus (HTLV) type-1 is mainly induced by the viral protein Tax. Aim: To evaluate
the spontaneous proliferation of T-cell subsets from asymptomatic HTLV-1 infected ...
Cached - All 2 versions

Three plasma biomarkers of HTLV-1-associated myelopathy/tropical spastic paraparesis

P Kirk, A Witkover, A Courtney, A Lewin… - …, 2011 - retrovirology.com
The pathogenesis of HAM remains uncertain: the disease is thought to be caused by the immune
response to HTLV-1, possibly by bystander damage to neurons in the spinal cord. The strongest
correlate of HAM in HTLV-1-infected individuals is the proviral load of HTLV-1, ie the ...
Cached - All 4 versions

… HTLV-1 infected T-cells for the identification of potential biomarkers and therapeutic targets for HTLV-1 associated myelopathy/tropical spastic paraparesis and adult T …

K Ueda, M Ishihara, A Osawa, N Senkoji, N Araya… - Retrovirology, 2011 - Springer
Human T-lymphotropic virus type-1 (HTLV-1) can cause the development of HTLV-1 associated
myelopa- thy/ tropical spastic paraparesis (HAM/TSP) and adult T-cell leukemia (ATL). These
nervous system inflamma- tion and cancer occur only in a very small proportion of ...
All 5 versions

Molecular and clinical effects of betamethasone in human t‐cell lymphotropic virus type‐i‐associated myelopathy/tropical spastic paraparesis patients

C Alberti, L Cartier, MA Valenzuela… - Journal of Medical …, 2011 - Wiley Online Library
There is no effective therapy for human T-cell lymphotropic virus type I (HTLV-I)-associated
myelopathy/tropical spastic paraparesis (HAM/TSP). Glucocorticoids are effective to reduce the
motor disability in these patients, but its role as anti-spastic drugs is unknown. Here it is ...
Related articles - All 2 versions

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