Results 171 to 180 of about 372,161 (260)

The Emerging JEV Genotype 5 Exhibits Distinct Codon Usage Characteristics. [PDF]

Pathogens
Gu X, Wang R, Yang Y, Zhang W, Yin Q, Nie K, Fu S, Cui Q, Li F, Wang H, Xu S.   +10 more
europepmc   +1 more source

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

Annals of Neurology, EarlyView.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi, Claudia Marina Vargiu, Brian S. Appleby, Marcelo Barria, Giuseppe Mario Bentivenga, Ignazio Calì, Benedetta Carlà, Mark Cohen, Armin Giese, Jochen Herms, Aino‐Minerva Kortelainen, Anna Ladogana, Angela Mammana, Diane Ritchie, Otto Windl, Sabina Capellari, Piero Parchi   +16 more
wiley   +1 more source

Late Onset Telomere Biology Disorder Presenting With Pancytopenia, Immune Dysregulation, Interstitial Lung Disease and Alopecia

American Journal of Hematology, EarlyView.
Bo A. Wan, Hamish Nicolson, Heather A. Leitch, Ryan J. Stubbins, Luke Y. C. Chen, Timothy Murray, Amy Trottier, Anthony Gador   +7 more
wiley   +1 more source

Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target

Annals of Neurology, EarlyView.
Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach, Katja Lohmann, Manabu Funayama, Poornima J. Menon, Eva‐Juliane Vollstedt, Teresa Kleinz, Hiroyo Yoshino, Suzanne Lesage, Britta Meier, Carolyn M. Sue, Jean‐Christophe Corvol, Alexis Brice, Nobutaka Hattori, Christine Klein, Aleksandar Rakovic   +14 more
wiley   +1 more source

Signal Peptide Engineering and Codon Optimization to Enhance α-Gal A Activity for rAAV Gene Therapy of Fabry Disease. [PDF]

J Inherit Metab Dis
He S, Yang L, Wan K, Zheng Z, Leng M, Gan C, Liu Y, Xiao L, Ye J, Chen Z, Zhou J, Valencia CA, Abuammah A, Chow HY, Dong B, Chen Y.   +15 more
europepmc   +1 more source

Lung adenocarcinoma with KRAS-Q61H: clinicopathologic features, diagnostics, and the evolving treatment landscape. [PDF]

Front Oncol
Serafimidis I.
europepmc   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

The mitochondrial genome characteristics of Coronocyclus coronatus (Looss, 1900) and comparative analysis with other strongylid nematodes. [PDF]

Parasitol Res
Hao Y, Xia Y, Ma L, Hao Z, Li B, Bu Y.
europepmc   +1 more source

Decoding efficacy and resistance space at a drug binding site. [PDF]

Nat Commun
Altmann S, Mendoza-Martinez C, Ridgway M, Tinti M, Saini JS, Ibrahim PEGF, Thomas M, De Rycker M, Bodkin MJ, Horn D.   +9 more
europepmc   +1 more source

Comprehensive analysis of chloroplast genome evolution in Poaceae: codon usage patterns, selection pressures, and phylogenomic relationships. [PDF]

BMC Genomics
Geng X, Xue Y, Wang H, Tu H, Jing R, Li Z, Gai Y.   +6 more
europepmc   +1 more source