Results 291 to 300 of about 638,439 (343)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Tuberculosis and the climate crisis in Latin America: a predicament of poverty, migration and displacement. [PDF]

BMJ Glob Health
Goscé L, Pescarini JM, Houben RMGJ, McQuaid CF.   +3 more
europepmc   +1 more source

Back analysis of mechanical parameters based on GPSO-BP neural network and its application. [PDF]

Sci Rep
Shi S, Miao Y, Di C, Zhao Q, Zheng Y, Liu C.   +5 more
europepmc   +1 more source

The development and validation of a performance infill tracking system to investigate rotational traction mechanisms on artificial turf surfaces. [PDF]

Sci Rep
McGowan H, Fleming P, James D, Morris J, Forrester S.   +4 more
europepmc   +1 more source

Insights from rock bridge experiments about tensile fracture of the locked section in slopes with stepped joints. [PDF]

Sci Rep
Qin C, Wang J, Wang B.
europepmc   +1 more source

Displaced

, 1966
openaire   +1 more source