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

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Figure Pedigrees of the SCA42 families identified in this study

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Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.

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

Figure 1 Summary of prior diagnostic workup in neuromuscular disorder cases Summary of prior diagnostic workup in neuromuscular disorder cases Percentage.

Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.

Figure 3 Pedigree of familial idiopathic transverse myelitis

Figure 1 Box plot of the venous diameter in lesions

Figure 2 Needle biopsy of the left vastus lateralis

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Figure 1 Comparison of miR-150-5p (log scale), prednisone dose (mg), and QMG score between the thymectomy (ETTX) and prednisone groups Comparison of miR-150-5p.

Figure Pedigree of the family

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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 3 Molecular genetics

Figure 2 Correlation between total IgG levels and anti-AQP4 IgG titer

Figure Association of hippocampal subfield volumes to cognition by neopterin level, volumes, and cognition adjusted for age, education, race, sex, and.

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

Figure WDR45 sequence changes in patients A and B

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Figure 1 All patients with pediatric genetic movement disorders, their genetic diagnoses, and type of genetic investigations All patients with pediatric.

Figure 5 Neurite structure is not disrupted by the lack of neurofilament light (NEFL)‏ Neurite structure is not disrupted by the lack of neurofilament.

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

Figure 2 Linkage analysis of chromosome 19

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

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Figure 1 Family pedigree and MRI

Figure 2 Functionally significant genes

Table 2 Rs number, gene, OR, 95% CI, and permutation p value for the statistical significant variants resulted from allelic association analysis association.

Figure 1 Family pedigree and DNA sequencing results

Figure 4 Voltage-clamp recordings of KCNJ18 carrying the patient's SNVs expressed in Xenopus laevis oocytes under control conditions and after application.

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Figure 1 Responder rates of patients at 4 weeks compared with prevaccinated levels Responder rates of patients at 4 weeks compared with prevaccinated levels.

Figure 1 Dissimilar mutation distributions in 88% identical ATP1A2 and ATP1A3 proteins Dissimilar mutation distributions in 88% identical ATP1A2 and ATP1A3.

Figure 6 Cellular composition after tissue dissociation

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Figure 1 Histamine flare in patients and controls

Figure 2 Interactome analyses in bvFTD

Figure 2 Changes in fatigue under treatment

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Figure 2 Repopulation of CD19+ cells in low and high BSA patients and calculation of the BSA Repopulation of CD19+ cells in low and high BSA patients and.

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 2 Pathogenic deletions upstream of LMNB1

Figure 4 Distinct groups of ATP1A1 pathogenic variants

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Figure 2 Compound heterozygous mutations in ADAM22

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Figure Pedigree, neuroimaging, and gene analysis

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.

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Figure 1 Analysis of CNVs of LMNB1 and its upstream region

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Figure 3 Similar but restricted distributions of pathogenic variants in the P domain Similar but restricted distributions of pathogenic variants in the P domain The P domain is the most conserved in the gene family. It is covalently phosphorylated during transport, and the Mg2+ ion (aqua) is at the active site. (A) The P domain consists of 2 halves that are separated in the linear structure but that interdigitate in a complex way when the protein folds. The first half, P1 in figure 1B, is shown in pale yellow, and the second half, P2 in figure 1B, in pink. There is a twisted β-sheet (left views) surrounded by α-helices (middle views). Strands and helices are numbered in the order found in the sequence. (B) The known mutations are displayed with color coding as indicated. Stick view is used for mutations in the β-sheet to avoid overcrowding. Note how most of the side chains of the mutated residues extend down into the active site surface. Spacefill view of the mutations, without side chains, is used for the α -helices. Note how the mutations are confined to just 5 helices: helix 1, which is associated with the stalk domain, and 4 helices that form a belt around the middle of the P domain: 2, 3, 7, and 8. There are no mutations in the end strands (1 and 4) or the end helices (4, 5, 6, and 9), which may be less important to function. The magenta mutation in an α-helix is the only helix mutation near (but not in) the active site. It is ATP1A3 T613M, a recurrent RDP mutation. The data indicate that the ATP1A2 and ATP1A3 distributions of mutations are very similar in the P domain, but there are 2 types of mutations. Most of the mutations in the β-sheet are at the active site. Most of the ones in the α-helices are distant from the active site. There was no correlation with phenotype severity. Kathleen J. Sweadner et al. Neurol Genet 2019;5:e303 Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.