Results 241 to 250 of about 184,621 (397)

Dupilumab Reduces Pruritus in Twins With Sjögren–Larsson Syndrome

open access: yesPediatric Dermatology, EarlyView.
ABSTRACT Sjögren–Larsson Syndrome (SLS), now termed ALDH3A2‐syndromic epidermal differentiation disorder (sEDD), is a rare genetic disorder marked by thickened skin, spasticity, and intellectual disability. Intractable pruritus is a nearly universal and debilitating feature of SLS that remains poorly managed by current therapies. We describe 4‐year‐old
Kennedy Gallagher   +3 more
wiley   +1 more source

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

open access: yesNew England Journal of Medicine, 2015
N. Wu   +56 more
semanticscholar   +1 more source

Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Intrafusal muscles contained within muscle spindles are endowed with ryanodie receptor 1 (RyR1) calcium channels and participate in proprioceptor function. Mutations in RyR1 linked to severe RYR1‐congenital myopathies affect calcium release from both extrafusal as well as intrafusal muscles.
Alexis Ruiz   +8 more
wiley   +1 more source

Clinical and radiological outcomes of hybrid technique in the management of AIS with double major curves with more than 5 years follow up

open access: yesBrain and Spine
K. Emre   +11 more
doaj   +1 more source

97. Studies of the Brain on Scoliosis

open access: bronze, 1965
Jirô Suzuki   +5 more
openalex   +2 more sources

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