Figure WDR45 sequence changes in patients A and B

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Figure Pedigrees of the SCA42 families identified in this study

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

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Figure 1 Treg percentage and suppressive function increased during each round of Treg infusions Treg percentage and suppressive function increased during.

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

Figure Pedigree of the family

Figure 3 Transcripts of the splicing mutation (c

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.

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Figure 2 Linkage analysis of chromosome 19

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

Figure 2 DNA sequence analysis of VPS37A

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Figure 4 Relative abundances of the order Clostridiales and its family members are differentially changed by therapy Relative abundances of the order Clostridiales.

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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 2 Time from incident ADS event to MS diagnosis

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 WDR45 sequence changes in patients A and B WDR45 sequence changes in patients A and B (A) Sanger sequence electropherograms of genomic PCR amplicons of patients A (exon 6, c.319_320delCT, p.L107Ffs*7) and B (exon 3, c.20G>A, p.Arg7Gln). The 2 deleted nucleotides are boxed in red. The arrow above the lower electropherogram marks the exact position of the missense mutation. (B) X-chromosome inactivation (XCI) patterns show skewed XCI for patient A (89:11) and random XCI (56:44) for patient B. Leonora Kulikovskaja et al. Neurol Genet 2018;4:e227 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.