Results 231 to 240 of about 59,410 (289)

Identification and Functional Characterization of Novel and Recurrent NTRK1 Variants in Chinese Families With Congenital Insensitivity to Pain With Anhidrosis: A Combined Clinical, Genetic, and Functional Study

open access: yesEuropean Journal of Neurology, Volume 33, Issue 5, May 2026.
This study investigates four Chinese families with congenital insensitivity to pain with anhidrosis (CIPA). Through next‐generation sequencing, we identified seven NTRK1 variants, including two novel mutations. Functional characterization of five identified missense and indel variants revealed distinct disruptions in the NGF‐TrkA pathway, ranging from ...
Yaqiong Ren   +9 more
wiley   +1 more source

Why Is MS a More Frequent Complication of EBV Infection in Females?

open access: yesImmunological Reviews, Volume 339, Issue 1, May 2026.
ABSTRACT Multiple sclerosis (MS) is a T helper (Th) cell‐mediated disease that targets central nervous system (CNS) white matter. This disease affects three times more females than males. For many years, the etiology of MS was not well understood and the exact nature of the autoimmune reaction was speculative.
Shannon E. Dunn   +2 more
wiley   +1 more source

Telemedicine in pediatric rheumatology: the video pediatric gait, arms, legs, and spine (v-pGALS) examination. [PDF]

open access: yesTurk J Med Sci
Balik Z   +8 more
europepmc   +1 more source

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