Results 201 to 210 of about 754,015 (260)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Genome-wide analysis of the B3 family in apple (Malus domestica Borkh.) and functional identification of MdREM19 involvement in salt stress. [PDF]

BMC Genomics
Tian Y, Yang A, Yan J, Wang B, Guo L, Ma S, Han X, Zhang C.   +7 more
europepmc   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier, Françoise Heran, Francis Lallemand, Pierre Bourdillon   +3 more
wiley   +1 more source

Genome-wide analysis of long non-coding RNAs and mRNAs in lung adenocarcinoma with pulmonary thromboembolism. [PDF]

Front Genet
Ahmat M, Alim G, Zhu Z, Chen C, Cao G, Luo Q.   +5 more
europepmc   +1 more source

Genome-wide analysis of expansin and aquaporin genes and their association with auxin-related metabolites during flower opening in <i>Lonicera macranthoides</i>. [PDF]

Front Plant Sci
Chen Z, Qi J, Zhuo W, Wang Y, Liu L, Lu S, Wang H, Zhu J, Ren F.   +8 more
europepmc   +1 more source

Systematic druggable genome-wide analysis to identify potential therapeutic targets for urologic diseases. [PDF]

Genes Dis
Shi Y, Chen H, Zhang X, Yin C, Lian P.
europepmc   +1 more source

Genome-wide analysis of somatic noncoding mutation patterns and mitochondrial heteroplasmic shift in type B1 and B2 thymomas. [PDF]

J Pathol
Fujikura K, Correa I, Heck S, Watanabe K, King J, McLean E, Ndagire S, Takahashi Y, Kuroda M, Bille A, Nonaka D.   +10 more
europepmc   +1 more source