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OBJECTIVE: Biallelic mutations in the AP5Z1 gene encoding the AP-5 ζ subunit have been described in a small number of patients with hereditary spastic paraplegia (HSP) (SPG48); we sought to define genotype-phenotype correlations...

1109 Neurosciences Clinical Medicine and Science Neurosciences Neurodegenerative Genetics Clinical Research Rare Diseases Neurological 2.1 Biological and endogenous factors

Plants display sophisticated mechanisms to tolerate challenging environmental conditions and need to manage their ontogenesis in parallel. Here, we set out to generate an RNA-Seq time series dataset throughout grapevine (Vitis...

AP1 DRM1 HSP MADS-box MYB WRKY Gene Expression grapevine heat-shock genes ontogenesis qRT-PCR reference genes

Datasets as Topic Genetic Testing Genomics Humans Nervous System Diseases Practice Guidelines as Topic Rare Diseases Exome Sequencing

Humans Male Animals Ascomycota Mycorrhizae Symbiosis Life Cycle Stages

Quantum Interference Graphite Intercalation Compounds Electron−electron Interaction Electron−phonon Coupling Resonant Raman Scattering

Global warming is pushing populations outside their range of physiological tolerance. According to the environmental envelope framework, the most vulnerable populations occur near the climatic edge of their species'...

climate change drought extremes ecological niche global warming Mycorrhizal fungi truffles Seasons Ascomycota Mycorrhizae Trees Europe

In monolayer (1L) transition metal dichalcogenides (TMDs) the valence and conduction bands are spin-split because of the strong spin-orbit interaction. In tungsten-based TMDs the spin-ordering of the conduction band is such that...

transition metal dichalcogenides layered materials optoelectronics spin and valley dynamics transient absorption spectroscopy

Adolescent Adult Consanguinity Female Humans Leigh Disease Male Mitochondrial Proteins Pedigree Transcription Factors Turkey

Animals Bone Marrow Cells Cell Line Cellular Reprogramming Humans Leukemia Lymphocytic Chronic B-Cell Mesenchymal Stem Cells Mice Receptor Cross-Talk Receptor Notch2 Wnt Signaling Pathway beta Catenin

Autosomal recessive cerebellar ataxias (ARCAs) form an ultrarare yet expanding group of neurodegenerative multisystemic diseases affecting the cerebellum and other neurological or non-neurological systems. With the advent of...

Neurology ataxia Registry Network Natural History trial readiness

Autosomal recessive cerebellar ataxias (ARCAs) form an ultrarare yet expanding group of neurodegenerative multisystemic diseases affecting the cerebellum and other neurological or non-neurological systems. With the advent of...

ataxia Natural History Network Registry trial readiness

OBJECTIVE: To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth disease (CMT) contribute to frequent but often unexplained neuropathies in the elderly, we performed genetic analysis of 230 patients with...

Age of Onset Aged aging Charcot-Marie-Tooth disease Female Genetic Predisposition to Disease Hereditary Sensory and Motor Neuropathy High-Throughput Nucleotide Sequencing Humans Male Middle Aged Neprilysin Exome Sequencing

OBJECTIVE: To foster trial-readiness of coenzyme Q8A (COQ8A)-ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum of COQ8A-ataxia in a large worldwide cohort, and provide first progression data, including...

Adolescent Adult Aged Cerebellar Ataxia Child Child Preschool Cohort Studies Cross-Sectional Studies Female genetic variation Humans Magnetic Resonance Imaging Male Middle Aged Mutation Protein Structure Secondary Ubiquinone Young Adult