ライフサイエンスコーパス: neurogenetic

1 e fundamental question posed by the field of neurogenetics.

2 led to one of the most successful stories in neurogenetics.

3 age range and 102 patients with a variety of neurogenetic abnormalities.

4 ing technologies have begun to revolutionize neurogenetics, allowing the full spectrum of genetic var

5 functionality, providing a new paradigm for neurogenetic analyses of the mammalian retina in health

6 it Libraries bring together neuroanatomical, neurogenetic and electrophysiological datasets with comp

7 Neurogenetic and lesion studies have identified regions

8 ne of investigation, highly complementary to neurogenetic and molecular strategies, and holds promise

9 The percentage of neurogenetic and other neurological patients with low Co

10 ent-of-origin-specific manner, can influence neurogenetic and psychiatric manifestations.

11 OFF-motion-sensitive T4 and T5 cells, using neurogenetics and calcium imaging.

12 (n = 202) and GENDAAR (Gender Exploration of Neurogenetics and Development to Advanced Autism Researc

13 The availability of novel tools in molecular neurogenetics and increasingly sophisticated neuroimagin

14 entually, investigations of neural circuits, neurogenetics, and neurochemistry uncovered a more compl

15 nce, synaptogenesis and function, behavioral neurogenetics, and responses to neuronal injury.

16 yndrome (DS) is the most common example of a neurogenetic aneuploid disorder leading to mental retard

17 We addressed this question with a cognitive neurogenetic approach using a large-scale dataset of exe

18 e challenges and highlight the benefits of a neurogenetics approach to understanding brain, behavior

19 Using an intermediate phenotypic neurogenetics approach, we assessed how stress and CRHR1

20 Using neurogenetic approaches combined with Ca(2+) imaging, we

21 Cross-disorder comparison suggests that the neurogenetic architecture of schizophrenia-associated br

22 New methods to understand the underlying neurogenetics are valuable for designing personalized in

23 approaches to dissect conserved fundamental neurogenetic aspects of sleep.

24 ior, with implications for understanding the neurogenetic bases of WS as well as social anxiety.

25 ve useful for exposing and understanding the neurogenetic basis of normal and pathological human cogn

26 le approach that can be used to identify the neurogenetic basis of systems-level phenotypes.

27 insights into the ontology of EFs and their neurogenetic basis, but also provides useful tools to un

28 Here, we deploy a combination of neurogenetic, behavioral, and physiological approaches t

29 x, who were also from the Centre for Applied Neurogenetics but unrelated to the probands or each othe

30 rders, we analyzed patients in our pediatric neurogenetics clinic who underwent WES.

31 Clinical data from neurogenetics clinics and HDPC gene-panel data were anal

32 edigrees with bipolar disorder: the Clinical Neurogenetics (CNG) pedigrees (in which linkage to illne

33 X-linked dystonia parkinsonism (XDP) is a neurogenetic combined movement disorder involving both p

34 Neurofibromatosis type 1 (NF1) is a common neurogenetic condition characterized by significant clin

35 eover, emerging evidence indicates that some neurogenetic conditions associated primarily with neurod

36 For neurogenetic conditions associated with intellectual dis

37 Here we examine neurogenetic contributions to individual differences in

38 diagnostic tool as well as a teaching aid at Neurogenetics courses held at several African universiti

39 e deficiency as an underlying factor for the neurogenetic defect detected in DcpS mutant cells and a

40 Thus, common norepinephrine-related neurogenetic differences enhance the subjective vividnes

41 ic annotation have led to a critical mass of neurogenetic discoveries.

42 d neurodegeneration (MPAN) is an ultraorphan neurogenetic disease from the group of neurodegeneration

43 rate allele-specific targeting of a dominant neurogenetic disease gene and suggest the broad therapeu

44 We studied the cause of neurogenetic disease in 246 children from 190 consanguin

45 itionally, we investigated mice that mimic a neurogenetic disease known as Angelman syndrome.

46 rain organoids' application for personalized neurogenetic disease modeling and drug discovery.

47 s are a major clinical feature of the common neurogenetic disease neurofibromatosis type 1 (NF1).

48 dels of Duchenne muscular dystrophy (DMD), a neurogenetic disease typically caused by frame-shifting

49 The effect on global lesions of a neurogenetic disease was tested in the mouse model of MP

50 we begin by selecting fragile X syndrome, a neurogenetic disease with cognitive-behavioral manifesta

51 ng 24 of at least 31 GPI-AP genes with human neurogenetic disease, prior reports are limited to singl

52 f-function (GOF) and loss-of-function KCNMA1 neurogenetic disease, validating two heterozygous allele

53 e most common pathways underlying paediatric neurogenetic disease.

54 nd are increasingly implicated as a cause of neurogenetic disease.

55 ould represent an important cause of complex neurogenetic disease.

56 s, there has been a logarithmic explosion in neurogenetic "disease-associated genes" molecular etiolo

57 ort (n = 37) including patients with various neurogenetic diseases (n = 25).

58 Many neurogenetic diseases are rare and slowly progressive ma

59 t delivery platforms make gene therapies for neurogenetic diseases challenging.

60 er understand the genetic characteristics of neurogenetic diseases in a consanguineous population.

61 To evaluate FAAH genes as candidates for neurogenetic diseases in humans and mice, we have mapped

62 Vitamin-responsive neurogenetic diseases represent a group of rare conditio

63 WES was performed on 66 individuals with neurogenetic diseases using candidate gene filters and s

64 sive, multifocal, or even global (e.g., many neurogenetic diseases).

65 rn errors of metabolism (IEM), patients with neurogenetic diseases, and individuals with neurological

66 e global brain lesions present in most human neurogenetic diseases.

67 an important component of many of the human neurogenetic diseases.

68 ion is increasingly recognized as a cause of neurogenetic diseases.

69 nervous system manifestations of a number of neurogenetic diseases.

70 Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schi

71 Angelman syndrome (AS) is a neurogenetic disorder caused by deficiency of maternally

72 Lesch-Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme

73 Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternal

74 15q11-q13 duplication syndrome (Dup15q) is a neurogenetic disorder caused by duplications of the mate

75 Tuberous sclerosis complex (TSC) is a neurogenetic disorder caused by loss-of-function mutatio

76 Angelman syndrome (AS) is a neurogenetic disorder caused by the loss of ubiquitin li

77 Angelman syndrome (AS) is a rare neurogenetic disorder caused by UBE3A deficiency and cha

78 Fragile X syndrome (FXS) is an X-linked neurogenetic disorder characterized by a cognitive and b

79 ces in individuals with congenital amusia, a neurogenetic disorder characterized by abnormal pitch pe

80 Duplication 15q (Dup15q) syndrome is a rare neurogenetic disorder characterized by autism and pharma

81 sis type IV (MLIV) is an autosomal recessive neurogenetic disorder characterized by developmental abn

82 Angelman syndrome (AS) is a childhood-onset neurogenetic disorder characterized by functionally seve

83 Turner syndrome (TS) is a neurogenetic disorder characterized by impaired spatial,

84 Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disa

85 Angelman syndrome (AS) is a neurogenetic disorder characterized by motor coordinatio

86 Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental ret

87 Tuberous sclerosis complex (TSC) is a neurogenetic disorder due to loss-of-function TSC1 or TS

88 Alpers' syndrome is a fatal neurogenetic disorder first described more than 70 years

89 Angelman syndrome is a devastating neurogenetic disorder for which there is currently no ef

90 STATEMENT Angelman syndrome (AS) is a severe neurogenetic disorder for which there is no cure, despit

91 Neurofibromatosis type 1 (NF1) is a common neurogenetic disorder in which affected children and adu

92 Fragile X syndrome is a neurogenetic disorder that is the most common known heri

93 study using heterogeneous ataxias as a model neurogenetic disorder to assess the introduction of next

94 Huntington's disease (HD) is a devastating neurogenetic disorder whose familial nature and progress

95 CS represents a novel neurogenetic disorder with general relevance to autism,

96 ntington's disease (HD) is a fatal, dominant neurogenetic disorder.

97 = 58), other neurodegenerative, vascular, or neurogenetic disorders (n = 266), and controls with no s

98 More than 12 neurogenetic disorders are caused by unstable expansions

99 an syndrome (AS) are two clinically distinct neurogenetic disorders arising from a loss of expression

100 nesia syndromes (EDS) are a complex group of neurogenetic disorders characterized by the co-occurrenc

101 roval, the development of gene therapies for neurogenetic disorders has advanced rapidly, with new de

102 A rapidly expanding catalog of neurogenetic disorders has encouraged a diagnostic shift

103 ded phenotypes of difficult to diagnose rare neurogenetic disorders in an outpatient clinic setting.

104 II subunits or tRNA processing factors cause neurogenetic disorders in humans, such as hypomyelinatin

105 DNA triplet repeat sequences (TRS) found in neurogenetic disorders may be due to abnormal DNA replic

106 a-hydroxybutyric aciduria) is one of the few neurogenetic disorders of GABA metabolism, and one in wh

107 We propose that neurogenetic disorders should be studied continually acr

108 rrier and target brain cells when applied to neurogenetic disorders such as ataxia-telangiecatasia (A

109 g to 128 mostly consanguineous families with neurogenetic disorders that often included brain malform

110 Neurogenetic disorders typically affect cells throughout

111 esis and provides a novel example of allelic neurogenetic disorders with differing gene expression pr

112 araplegia is a highly heterogeneous group of neurogenetic disorders with pure and complicated clinica

113 Neurogenetic disorders, such as neurofibromatosis type 1

114 ntial of (RXRRBR)(2)XB-AMOs in A-T and other neurogenetic disorders.

115 genetic risks onto regional brain changes in neurogenetic disorders.

116 in genetically unexplained individuals with neurogenetic disorders.

117 ogenic variants in over 1700 genes can cause neurogenetic disorders.

118 anges in social behavior observed in certain neurogenetic disorders.

119 eterogeneous group of clinically overlapping neurogenetic disorders.

120 directions in developing gene therapies for neurogenetic disorders.

121 e of combinatorial ASOs for the treatment of neurogenetic disorders.

122 they may contribute to our understanding of neurogenetic disorders.

123 lternative stem cell source for the study of neurogenetic disorders.

124 nervous system and are among the most common neurogenetic disorders.

125 rgic phenotype will contribute to the future neurogenetic dissection of information processing circui

126 tau) locus is one of the most remarkable in neurogenetics due not only to its involvement in multipl

127 ed the remarkable similarities between early neurogenetic events in vertebrates and invertebrates.

128 sent its use in a series of state-of-the-art neurogenetics experiments.

129 ovarian steroids in women, and may provide a neurogenetic framework for understanding neuropsychiatri

130 ecently discovered molecular classifiers and neurogenetic function determination.

131 al to posteromedial gradient [the transverse neurogenetic gradient (TNG)].

132 Advances in human neurogenetics have begun to shed light on the genomic ar

133 Recent advances in neurogenetics have highlighted Drosophila melanogaster a

134 Connectomics and neurogenetics have produced a surge in recent progress,

135 uss literature applying functional assays in neurogenetics, highlighting strengths, caveats, and desi

136 By reflecting on the current state of neurogenetics in Africa and outlining future directions,

137 Our findings provide a new foundation for neurogenetic inquiries by revealing a robust and previou

138 At any time in the 7 d neurogenetic interval, a given PVE cell must know what c

139 vel research centres and a national clinical neurogenetic laboratory; rates of discovery were compara

140 by combining virtual-reality behaviour with neurogenetic manipulations and in vivo two-photon brain

141 opments in neuroimaging, neuropathology, and neurogenetics, many developmental disorders of the midbr

142 ployed to study the effects of genes and how neurogenetics may affect future radiology research and p

143 tion in linkage disequilibrium may provide a neurogenetic mechanism for BIN1 while further validating

144 However, the neurogenetic mechanism that generates sex-specific aggre

145 Together, these findings identify a neurogenetic mechanism that sex-specifically integrates

146 These results suggest a neurogenetic mechanism, in part involving LIMK1, that ma

147 across a range of anxiety disorders, but the neurogenetic mechanisms driving interindividual differen

148 We review these neurogenetic mechanisms in representatives of the differ

149 However, the neurogenetic mechanisms of these disorders are not well

150 genetic association but also of the broader neurogenetic mechanisms of variability in socioemotional

151 ts such as human temperament, the underlying neurogenetic mechanisms remain unclear.

152 ASD diagnostic criteria, but the underlying neurogenetic mechanisms remain unknown.

153 Moreover, they uncover neurogenetic mechanisms that bridge different neurodevel

154 Understanding neurogenetic mechanisms underlying neuropsychiatric diso

155 ional genomic routes for dissecting critical neurogenetic mechanisms.

156 p behavior through separable yet cooperative neurogenetic mechanisms.

157 of autism spectrum disorder and is a unique neurogenetic model for testing theories about the brain

158 and D. melanogaster (a saprophytic fly and a neurogenetic model organism).

159 Zebrafish as a neurogenetic model system depends on the correct neuroan

160 Here we develop a neurogenetic model, Drosophila sechellia, a species that

161 al domains including clinical phenomenology, neurogenetics, multimodal neuroimaging, neurophysiology,

162 Williams syndrome (WS) is a neurogenetic-neurodevelopmental disorder characterized b

163 The genetic architecture and neurogenetics of animal migration remain poorly understo

164 of nonrodent alternatives to understand the neurogenetics of development of AUD.

165 songbirds advantageous for investigating the neurogenetics of learned vocal communication--a complex

166 MPRA to both computational and experimental neurogenetics of polygenic disease risk.

167 recent progress in studies of the molecular neurogenetics of sexual differentiation and behaviour ha

168 Understanding the neurobiology and neurogenetics of social cognition and behavior has impor

169 omparative approach that exploits Drosophila neurogenetics, our results provide a causal, mechanistic

170 s using dN/dS-ratios bridged the gap between neurogenetic outcomes and biological data, summarizing t

171 ted through specialist neurofibromatosis and neurogenetic outpatient clinics between April and Septem

172 Our results reveal a neurogenetic pathway mediating interindividual variabili

173 s in the heterotopia exhibit a "rim-to-core" neurogenetic pattern rather than the characteristic "ins

174 f cell division elapsed during the prolonged neurogenetic period of the monkey cortex, providing a ba

175 ession diminishes at the end of the cortical neurogenetic period, just before birth.

176 To determine whether other neurogenetic populations respond to peripheral bFGF, we

177 Guyer et al. have now confirmed the neurogenetic potential of enteric glial cells and have a

178 l Shh and Wnt expression may distinguish the neurogenetic potential of these structures.

179 lular factors exert proliferative effects on neurogenetic precursors in vivo.

180 phenotype, offers the potential to elucidate neurogenetic principles that may apply in genetically an

181 An early neurogenetic program allocates the progeny of NSCs eithe

182 rallel or downstream of atonal to modify the neurogenetic program.

183 llenge of clinical relevance, we examine how neurogenetics research can identify novel therapeutic ta

184 ases) and 1,986 unaffected controls from the NeuroGenetics Research Consortium (NGRC).

185 milial PD) and 1544 non-familial PD from the NeuroGenetics Research Consortium (NGRC); an additional

186 for 2000 PD cases and 1986 controls from the NeuroGenetics Research Consortium GWAS and sequenced a s

187 In recent years, neurogenetics research had made some remarkable advances

188 Neurogenetics research has begun to advance our understa

189 Despite these advancements, neurogenetics research is currently confronted by three

190 By addressing these challenges, neurogenetics research is poised to exponentially increa

191 y be applied more broadly within behavioural neurogenetics research.

192 We also quantified the neurogenetic response to song playback through immediate

193 whereas Fgfr1 cKO failed to mount a cortical neurogenetic response.

194 al conditions can affect social learning and neurogenetic responses in a subsequent generation.

195 of environmental cues, coordinating diverse neurogenetic signals.

196 logy and to highlight emerging themes in the neurogenetics space.

197 high-resolution transcriptional baseline for neurogenetic studies of normal and abnormal human brain

198 s pave the way for anatomical and functional neurogenetic studies of sensory processing in mosquitoes

199 Neurogenetic studies with Drosophila have identified dis

200 an be measured in an assay useful for future neurogenetic studies.

201 Neuroimaging data from the Duke Neurogenetics Study (N=312) provide evidence of this SNP

202 Through an ongoing parent protocol, the Duke Neurogenetics Study, we measured threat-related amygdala

203 9.65+/-1.24 years) participating in the Duke Neurogenetics Study.

204 niversity students participating in the Duke Neurogenetics Study.

205 inical sample of young adults (n = 482, Duke Neurogenetics Study: 53% women; aged 19.8 1.2 years) to

206 kgroundTuberous sclerosis complex (TSC) is a neurogenetic syndrome due to loss-of-function mutations

207 sortium is examining this highly informative neurogenetic syndrome phenotypically and genomically.

208 is type 1 (NF1) and Noonan syndrome (NS) are neurogenetic syndromes caused by pathogenetic variants e

209 Aside from features associated with risk of neurogenetic syndromes in general (e.g., cognitive impai

210 Vestibular schwannomas, neurogenetic syndromes such as schwannomatosis and multi

211 acterize numerous neurological disorders and neurogenetic syndromes, such as autism spectrum disorder

212 zation, as well as on specific phenotypes of neurogenetic syndromes.

213 vous system (CNS) phenotypes, we created the Neurogenetic Systematic Correlation of Omics-Related Evi

214 We employed neurogenetic techniques to characterize neurons that inf

215 we define three challenges for the field of neurogenetics that we believe must be addressed to trans

216 scant, in large part due to a lack of sparse neurogenetic tools for this region.

217 Neurogenetic tools of Drosophila research allow unique a

218 Coupled with new and exciting neurogenetic tools, the near future promises an exciting

219 Thus, our study characterizes neurogenetic topological vulnerabilities in distinctive

220 eeded to enable a complete dissection of the neurogenetic underpinnings of this universal fitness tra

221 o were recruited from the Centre for Applied Neurogenetics (Vancouver, BC, Canada), an international

222 er Primates evolved through lineage-specific neurogenetic variation.

223 Some individuals have a neurogenetic vulnerability to developing strong facilita

224 Overview of Neuron's special review issue on neurogenetics, we reflect on progress made over the last

225 Functional neuroimaging and behavioral neurogenetics will permit in-vivo correlations and conse