Neurogenetics

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Questionable association between a monoamine oxidase A promoter polymorphism and sudden infant death syndrome
Neurogenetics - Tập 11 - Trang 367-368 - 2010
Michael Klintschar, Christian Heimbold
Evidence of linkage and association on chromosome 20 for late-onset Alzheimer disease
Neurogenetics - Tập 5 - Trang 121-128 - 2004
Katrina A. B. Goddard, Jane M. Olson, Haydeh Payami, Monique van der Voet, Helena Kuivaniemi, Gerard Tromp
Recently, we reported evidence of linkage on chromosome 20 for Alzheimer disease (AD) using a novel statistical approach to incorporate covariates (e.g., age, ApoE genotype) into the analysis. These results suggest that very elderly subjects (>85 years), and individuals who carry an ε2 allele at the ApoE locus are more likely to be linked to this candidate region. The region on chromosome 20 inclu...... hiện toàn bộ
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings
Neurogenetics - Tập 20 - Trang 165-172 - 2019
Marcello Scala, Giorgia Brigati, Chiara Fiorillo, Claudia Nesti, Anna Rubegni, Marina Pedemonte, Claudio Bruno, Mariasavina Severino, Maria Derchi, Carlo Minetti, F. M. Santorelli
TSFM is a nuclear gene encoding the elongation factor Ts (EFTs), an essential component of mitochondrial translational machinery. Impaired mitochondrial translation is responsible for neurodegenerative disorders characterized by multiple respiratory chain complex defects, multisystemic involvement, and neuroradiological features of Leigh-like syndrome. With the use of a next-generation sequencing ...... hiện toàn bộ
Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival
Neurogenetics - Tập 21 - Trang 243-249 - 2020
Tamar Gur Hartman, Keren Yosovich, Hila Gur Michaeli, Lubov Blumkin, Liat Ben-Sira, Dorit Lev, Tally Lerman-Sagie, Ayelet Zerem
Iron-sulfur cluster assembly 2 (ISCA2)-related multiple mitochondrial dysfunction syndrome 4 (MMDS4) is a fatal autosomal recessive mitochondrial leukoencephalopathy. The disease typically manifests with rapid neurodevelopmental deterioration during the first months of life leading to a vegetative state and early death. MRI demonstrates a demyelinating leukodystrophy. We describe an eleven-year-ol...... hiện toàn bộ
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia
Neurogenetics - Tập 22 - Trang 143-147 - 2021
Ali S. Shalash, Thomas W. Rösler, Mohamed Salama, Manuela Pendziwiat, Stefanie H. Müller, Franziska Hopfner, Günter U. Höglinger, Gregor Kuhlenbäumer
Ataxia telangiectasia is a rare autosomal recessive multisystem disorder caused by mutations in the gene of ATM serine/threonine kinase. It is characterized by neurodegeneration, leading to severe ataxia, immunodeficiency, increased cancer susceptibility, and telangiectasia. Here, we discovered a co-segregation of two ATM gene variants with ataxia telangiectasia in an Egyptian family. While one of...... hiện toàn bộ
Structural variation and eQTL analysis in two experimental populations of chickens divergently selected for feather-pecking behavior
Neurogenetics - Tập 24 - Trang 29-41 - 2022
Clemens Falker-Gieske, Jörn Bennewitz, Jens Tetens
Feather pecking (FP) is a damaging nonaggressive behavior in laying hens with a heritable component. Its occurrence has been linked to the immune system, the circadian clock, and foraging behavior. Furthermore, dysregulation of miRNA biogenesis, disturbance of the gamma-aminobutyric acid (GABAergic) system, as well as neurodevelopmental deficiencies are currently under debate as factors influencin...... hiện toàn bộ
Expanded FMR1 alleles are rare in idiopathic Parkinson’s disease
Neurogenetics - Tập 6 - Trang 51-52 - 2004
E. K. Tan, Y. Zhao, K. Y. Puong, H. Y. Law, L. L. Chan, K. Yew, H. Shen, V. R. Chandran, Y. Yuen, R. Pavanni, M. C. Wong, I. S. Ng
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia
Neurogenetics - - 2020
Massimo Santoro, Alessia Perna, Piergiorgio La Rosa, Sara Petrillo, Fiorella Piemonte, Salvatore Rossi, Vittorio Riso, Tommaso Nicoletti, Anna Modoni, Maria Grazia Pomponi, Pietro Chiurazzi, Gabriella Silvestri
Investigating the genetics of visual processing, function and behaviour in zebrafish
Neurogenetics - Tập 12 - Trang 97-116 - 2011
Sabine L. Renninger, Helia B. Schonthaler, Stephan C. F. Neuhauss, Ralf Dahm
Over the past three decades, the zebrafish has been proven to be an excellent model to investigate the genetic control of vertebrate embryonic development, and it is now also increasingly used to study behaviour and adult physiology. Moreover, mutagenesis approaches have resulted in large collections of mutants with phenotypes that resemble human pathologies, suggesting that these lines can be use...... hiện toàn bộ
Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification
Neurogenetics - Tập 15 - Trang 215-216 - 2014
Gaël Nicolas, Anne-Claire Richard, Cyril Pottier, Christophe Verny, Franck Durif, Emmanuel Roze, Pascal Favrole, Gabrielle Rudolf, Mathieu Anheim, Christine Tranchant, Thierry Frebourg, Dominique Campion, Didier Hannequin
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