Results 101 to 110 of about 870,271 (337)

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Research of distribution pattern of allelic genes and genotypes of C/A polymorphism of COL1A1_1 collagen gene (RS1107946) in children with nasal obstruction of allergic genesis and orthodontic pathology

Patologìâ, 2018
Purpose. Determination of the genotypes of C/A polymorphism of COL1A1_1 collagen gene (rs1107946) and patterns of distribution of allelic genes in children with nasal obstruction and orthodontic pathology. Materials and methods.
Т. Ye. Shumna, O. M. Kamyshnyi, Т. P. Zinchenko   +2 more
doaj   +1 more source

The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate whether the rs10191329 risk allele in the DYSF–ZNF638 locus, which is implicated in central nervous system resilience rather than immune‐mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS). Methods From a prospective observational study,
Gabriel Bsteh, Ruchi Tanavade, Nik Krajnc, Fabian Föttinger, Theresa König, Martin Krenn, Lukas Haider, Barbara Kornek, Fritz Leutmezer, Kerstin U. Ludwig, Stefan Macher, Tobias Monschein, Markus Ponleitner, Paulus Rommer, Christiane Schmied, Karin Zebenholzer, Tobias Zrzavy, Gudrun Zulehner, Franziska Di Pauli, Axel Schmidt, Harald Hegen, Berthold Pemp, Thomas Berger   +22 more
wiley   +1 more source

Wheat improvement using genome editing technology

BioTechniques, 2021
Wendy J Lyzenga, Sateesh Kagale
doaj   +1 more source

THE GENETIC VARIANCE OF AUTOTETRAPLOIDS WITH TWO ALLELES [PDF]

, 1957
C. C. Li
openalex   +1 more source

dnaA alleles are recessive [PDF]

Journal of Bacteriology, 1980
Dominance tests of several dnaA alleles from Escherichia coli, including two previously reported to be dominant, show that all of the mutant alleles examined are recessive to dnaA+.
openaire   +3 more sources

Genetic Modifiers of Parkinson's Disease: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik, Michael V. Holmes, Pierre Fontanillas, Giulietta M. Riboldi, Ruth B. Schneider, Jingchunzi Shi, Anna Guan, Susana Tat, Steven Micheletti, Keaton Stagaman, Josh Gottesman, David A. Hinds, Joyce Y. Tung, 23andMe Research Team, Stella Aslibekyan, Lucy Norcliffe‐Kaufmann   +15 more
wiley   +1 more source

THE DISTRIBUTION OF SELF-STERILITY ALLELES IN POPULATIONS [PDF]

, 1939
Sewall Wright
openalex   +1 more source

Chromosome instability in 'Carrizo' citrange + Citrus macrophylla somatic hybrids [PDF]

, 2015
Somatic hybridization by protoplast fusion is a very useful technique for citrus rootstock breeding. Indeed, it theoretically allows the accumulation of all genes of the parents, irrespective of their heterozygosity level and therefore the addition of ...
Aleza, Pablo, Navarro, Luis, Olivares-Fuster, Oscar, Ollitrault, Patrick, Pensabene-Bellavia, Giovani, Ruiz, Marta   +5 more
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