Results 291 to 300 of about 2,254,561 (377)

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero   +15 more
wiley   +1 more source

CHMP2B promotes CHMP7 mediated nuclear pore complex injury in sporadic ALS. [PDF]

open access: yesActa Neuropathol Commun
Keeley O, Mendoza E, Menon D, Coyne AN.
europepmc   +1 more source

Plasma microRNA Signature as Predictive Marker of Clinical Response to Therapy During Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite the availability of effective therapies for Multiple Sclerosis (MS), the unpredictable nature of disease progression and the variability in individual treatment outcomes call for reliable biomarkers. This pilot study aims to investigate the potential of plasma circulating microRNAs (miRNAs) as predictive biomarkers for ...
Fortunata Carbone   +19 more
wiley   +1 more source

The nuclear pore complex. [PDF]

open access: bronze, 2001
Stephen A. Adam
openalex   +1 more source

Glial Fibrillary Acidic Protein Astrocytopathy Based on a Two‐Center Chinese Cohort Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glial fibrillary acidic protein astrocytopathy (GFAP‐A) is a recently defined nosological form belonging to the class of autoimmune inflammatory disorders affecting the central nervous system (CNS). Here, we report the clinical and MRI characteristics, treatment, and prognosis of a GFAP‐A cohort from two centers in China.
Ti Wu   +13 more
wiley   +1 more source

Commentary: Manifold Routes to a Nucleus

open access: yesFrontiers in Microbiology, 2019
Christian Jogler   +2 more
doaj   +1 more source

Advances in the understanding of nuclear pore complexes in human diseases. [PDF]

open access: yesJ Cancer Res Clin Oncol
Li Y   +5 more
europepmc   +1 more source

Nuclear Pore Permeabilization Is a Convergent Signaling Event in Effector-Triggered Immunity

open access: yesCell, 2016
Yangnan Gu   +5 more
semanticscholar   +1 more source

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