Results 171 to 180 of about 2,033 (309)

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

open access: yesAnnals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins   +104 more
wiley   +1 more source

Mode of intracontinental mountain building controlled by lower crustal composition and mantle lithosphere depletion. [PDF]

open access: yesNat Commun
Xu X   +14 more
europepmc   +1 more source

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul   +15 more
wiley   +1 more source

Exo-Geoscience Perspectives Beyond Habitability. [PDF]

open access: yesSpace Sci Rev
Spohn T   +7 more
europepmc   +1 more source

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