Figure 2 Domain/structural organization of mTOR protein with the positions of the mutations indicated Domain/structural organization of mTOR protein with.

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TOR ( target of rapamycin) signaling Apr 4, 2005.

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Figure Pedigrees of the SCA42 families identified in this study

Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

Figure 3 Pedigree of familial idiopathic transverse myelitis

Figure 1 Percentages of patients with first seizure experiencing a recurrent seizure over time This graph is based on a fixed-effect pooled percentage.

Generation and characterization of Vps15‐null mice and cells. A

Figure 1 Percent positivity by clinical feature Overall, 6

Figure 1. Type and distribution within KCNQ2 protein of variants in self-limiting epilepsy vs epileptic encephalopathy Type and distribution within KCNQ2.

Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.

Figure 2. Ophthalmologic findings of bialleic AP5Z1 mutations

Figure 1 Prediction of pathogenicity and protein localization of SBF1 mutations Prediction of pathogenicity and protein localization of SBF1 mutations.

Figure Pedigree of the family

Figure 2 Association between coronary artery disease polygenic risk score and the presence of migraine Results are given as odds ratios with 95% confidence.

Figure Increase of publications relating to genetics and neurology Pubmed was searched for the following advanced search term: (gene[Text Word]) OR mutation[Text.

Volume 12, Issue 17, Pages (September 2002)

Figure 2 Luciferase assays of transiently transfected HEK 293 cells with reporter constructs containing the 766-bp wild-type KCNJ18 or c.-542 T/A mutant.

Figure 2. EZO levels in infants and young children compared to adults at similar doses EZO levels in infants and young children compared to adults at similar.

Figure 3 Molecular genetics

Figure 1 Genetic profile of 90 patients with dysferlin deficiency

Figure 1 Dominant and recessive missense and nonsense variants in neurofilament light (NEFL)‏ Dominant and recessive missense and nonsense variants in.

Figure 3 Temporal trends in FALS incidence

Figure 1 Pedigrees of the early-onset Alzheimer disease families and SORL1 protein diagram Pedigrees of the early-onset Alzheimer disease families and.

Figure 3 qRT-PCR fold change comparison, disease vs CON, of splice vs no-splice primer sites qRT-PCR fold change comparison, disease vs CON, of splice.

Figure 3 Transport activity of human SLC25A4 and SLC25A4 p.Lys33Gln

Figure 2 Schematic displaying the 3 described CHT mutant proteins alongside wild type molecule (Adapted from reference 2, using Microsoft Powerpoint Software)‏

Figure 3 Mutation carrier–derived lymphoblastoid cell lines (LCLs) show decreased aconitase 2 activity and mitochondrial respiration deficiency compared.

Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer- related genes — Providing evidence of cancer predisposition genes

Figure 1 Schematic overview of flow cytometry Schematic overview on the analysis of peripheral immune cells by flow cytometry. Schematic overview of flow.

Figure 1 Evolution of blood cell counts during 18-month treatment and follow-up (A) Mean white blood cell count, (B) mean lymphocyte count, (C) mean eosinophil.

Figure Family tree with the HLA haplotyping of 6 members of the family

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Figure Genetic deletion and MRI changes with EHMT1 deletion

Figure 3. Comparison of median manual muscle test scores in the upper and lower limbs Comparison of median manual muscle test scores in the upper and lower.

Figure 1 Within-groups sum of squares vs number of clusters Within-groups sum of squares vs number of clusters to determine the number needed for k-means.

Figure 1 Family pedigree and DNA sequencing results

Figure 5 Pairwise correlations between selected patient-reported outcomes and performance tests in patients with MS (A) The number of pairwise correlations.

Figure 1 Annual trend in specimen type submitted as first sample for aquaporin-4 immunoglobulin G testing (serum only vs CSF only vs both) from 101,065.

Figure Pedigree of the family and segregation analysis of the FUS p

Figure 1 Pedigree and genetic findings

Figure 1 Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and patients with frontotemporal dementia Mutated CTSF in adult-onset neuronal ceroid.

Figure 1 Examination of MuSK antibody levels and B-cell subsetsFlow cytometric analysis (n = 13) using standardized Human Immunology Project Consortium.

Figure 1 Histamine flare in patients and controls

Figure 3 Pedigrees of 3 multiplex families with NLRP3 mutations and MS The patient numbers refer to the patients listed in table 1. Pedigrees of 3 multiplex.

Figure 4 Unspecific MRI findings and facial dysmorphy in patients with germline variants Unspecific MRI findings and facial dysmorphy in patients with.

Figure 2 Interactome analyses in bvFTD

Figure Molecular structure Molecular structure of delta-9-tetrahydrocannabiol (THC) (left), which has psychoactive properties, compared to molecular structure.

Figure 3 Similar but restricted distributions of pathogenic variants in the P domain Similar but restricted distributions of pathogenic variants in the.

Figure 2 Longitudinal relationship between CSF glucose and protein changes Longitudinal relationship between CSF glucose and protein changes Delta glucose.

Figure 2. Patient stratification by the reported duration of symptoms and disease severity at the time of assessment Patient stratification by the reported.

Figure 1 Compound heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency Compound heterozygous mutations in HSD17B4.

Figure 1. Heat map of antibody binding patterns to glycolipid targets in Guillain-Barré syndrome (GBS) cases and controls Heat map of antibody binding.

Figure 1 Family pedigrees, clinical photographs, and multispecies alignment showing the effect of the 3 reported mutations Family pedigrees, clinical photographs,

Figure 3 Genotype-phenotype correlation in SPG7 mutations and age at onset of symptoms Genotype-phenotype correlation in SPG7 mutations and age at onset.

Figure 1 Peripheral blood lymphocyte counts during dose titrationB-lymphocyte (CD19+; A) and total lymphocyte (CD45+; B) counts (cells/µL) in peripheral.

Figure 4 DNM1 mutations affect protein levels and self-dimerization (A) HeLa cells were transfected with green fluorescent protein (GFP)-tagged mutant.

Figure 4 Distinct groups of ATP1A1 pathogenic variants

Figure DYNC1H1 mutation in pedigree with dominant spinal muscular atrophy and effect on the dynein complex DYNC1H1 mutation in pedigree with dominant spinal.

Figure 1 bvFTD PINBPA network

Figure 1 Schematic representation of FOXG1 gene, protein domain structure, and positions of FOXG1 mutations Schematic representation of FOXG1 gene, protein.

Figure 2 Distribution of DEPDC5 variants in patients and controls

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Figure 6 Multiple target epitopes exist in the N-terminal domains of Caspr2 (A) Multidomain deletion constructs of Caspr2 were generated to determine which.

Gitanjali Das et al. Neurol Neuroimmunol Neuroinflamm 2018;5:e453

Figure 2 Pedigrees of families and segregation analysis of variants c

Figure 2 Compound heterozygous mutations in ADAM22

Figure 1 Novel stopgain mutation in adenosine monophosphate deaminase 2 segregates with disease in family ACC1 and causes complete loss of protein Novel.

Figure 2 Striatal dopamine transporter binding with the SNCA A53E mutation Transaxial planes of [123I]FP-CIT SPECT on the striatal level are presented.

Figure 2 Interleukin-6 concentrations in the CSF In 2 mutation carriers (patient 1 in dark blue triangle and patient 5 in light blue triangle carrying.

Figure 4 Venn diagram for B-cell Sup proteins compared with proteins from exosome-enriched fractions from a human B-cell line Venn diagram for B-cell Sup.

Rapamycin-Dependent Interaction between TOR-FRB Domain and Hs FKBP12

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Figure 2 Domain/structural organization of mTOR protein with the positions of the mutations indicated Domain/structural organization of mTOR protein with the positions of the mutations indicated In black: germline mutations; in blue: somatic mutations; in bold: recurrent mutations. Structural domains are composed of HEAT (huntingtin, elongation factor 3, protein phosphatase 2A, and TOR1) repeats; FAT (FRAP, ATM, TRRAP) domain; FRB (FKBP12-rapamycin binding) domain; kinase domain; and FATC (FAT C-terminal) domain. Rikke S. Møller et al. Neurol Genet 2016;2:e118 © 2016 American Academy of Neurology