Figure 2 Immunoblotting of erythrocyte membranes, lymphoblastoid cells, and co-immunoprecipitants Immunoblotting of erythrocyte membranes, lymphoblastoid.

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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)

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

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

Figure 1 Stiff-person syndrome spectrum patient serum bound to membranes of live GlyRα1-transfected HEK293 cells Stiff-person syndrome spectrum patient.

Figure 2 Serums of patients with stiff-person syndrome spectrum disorders containing GlyRα1-Binding IgG specifically induces internalization of GlyRα1.

Figure 3 Immunohistochemical analyses of positive and negative Epstein-Barr virus (EBV) control tissues using immunostaining Immunohistochemical analyses.

Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.

Figure 2 Anti-LINGO-1 (Li81) does not affect cytokine production

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 1 Histopathologic features of a chronic active and a chronic plaque in the MS brain Histopathologic features of a chronic active and a chronic plaque.

Figure 4 Mitochondrial respiration is affected in lymphoblastoid cell lines (LCLs) of ACO2 mutation carriers Mitochondrial respiration is affected in lymphoblastoid.

Figure Pedigree of the family

Figure 1 Reactivity of the patients' antibodies with rat brain and HEK cell-based assays Rat hippocampal dentate gyrus neuropils were stained with patient.

Figure 3 Transcripts of the splicing mutation (c

Figure 3 Complete loss of neurofilament light (NEFL) protein in cultured patient neurons Complete loss of neurofilament light (NEFL) protein in cultured.

Figure 5 Increased frequency of parenchymal CD138- and LMP-1–positive cells in MS Increased frequency of parenchymal CD138- and LMP-1–positive cells in.

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 Correlation between total IgG levels and anti-AQP4 IgG titer

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

Figure 3 Effects of RTX on specific anti-pathogen IgGs

Figure 3 Temporal trends in FALS incidence

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 3 Transport activity of human SLC25A4 and SLC25A4 p.Lys33Gln

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.

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

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.

Figure 2 Increased mitochondrial sensitivity to glucose reduction in lymphoblastoid cells from patients with primary lateral sclerosis Increased mitochondrial.

Figure 1 [18F]florbetapir standardized uptake value ratio analytical method [18F]florbetapir standardized uptake value ratio analytical method Flowchart.

Figure 2 The K19del mutation affects the expression and solubility of CHP1 The K19del mutation affects the expression and solubility of CHP1 (A) Western.

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 Anti-LINGO-1 (Li81) has no effect on activated T-cell proliferation Anti-LINGO-1 (Li81) has no effect on activated T-cell proliferation (A) Western.

Figure 6 Cellular composition after tissue dissociation

Figure 2 Immunohistological detection of EBV latent and early lytic proteins in MS and control brains Immunohistological detection of EBV latent and early.

Figure 1 Histamine flare in patients and controls

Figure 3 ADAM22 mutant proteins do not bind to LGI1

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

Figure 2 Global tau-PET distribution in familial prion disease mirrors the distribution seen in Alzheimer disease Global tau-PET distribution in familial.

Figure 2 Identification of a heterozygous mutation in POLR3F, protein structure, and pedigree Identification of a heterozygous mutation in POLR3F, protein.

Figure 1 Annualized percentage brain volume change

Figure 2 BVL according to on-study disability worsening

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 Mice with antibodies to NMDARs have decreased hippocampal total protein levels of NMDARs Mice with antibodies to NMDARs have decreased hippocampal.

Figure 1 bvFTD PINBPA network

Figure 2 Seizure outcomes

Yian Gu et al. Neurol Neuroimmunol Neuroinflamm 2019;6:e521

Ingo Kleiter et al. Neurol Neuroimmunol Neuroinflamm 2018;5:e504

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

Figure Lysosome dysfunction observed in patient-derived fibroblasts with the TMEM106B p.Asp252Asn substitution Lysosome dysfunction observed in patient-derived.

Figure 1 Tissue processing methods and cellular viability

Figure 3 Freedom from clinical disease activity during 36 months of fingolimod treatment Freedom from clinical disease activity during 36 months of fingolimod.

Figure 3 C5B3 blocked MAC formation

Figure 2 LMNB1 mRNA expression

Figure 3 Within-group comparisons (before–after)‏

Figure 2 Between-group comparisons

Figure Pedigree, neuroimaging, and gene analysis

Figure Results of duplication analysis and patient 11's chorein analysis and geographical distribution of VPS13A mutations Results of duplication analysis.

Figure 1 Representative radiologic and pathologic images of patients with brain somatic mutations in SLC35A2 Representative radiologic and pathologic images.

Figure 2 Nonhuman primate brain immunohistochemistry

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.

Figure 3 Patient cells show impaired OXPHOS complex levels and function Patient cells show impaired OXPHOS complex levels and function (A) SDS-PAGE and.

Figure (A and B) Effect of canakinumab in muscle strength measured in each patient as mean bilateral GF (A) and TMS (B) during the mean study period of.

Figure 4 Western blotting

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Figure 2 Immunoblotting of erythrocyte membranes, lymphoblastoid cells, and co-immunoprecipitants Immunoblotting of erythrocyte membranes, lymphoblastoid cells, and co-immunoprecipitants (A and C) Chorein immunoblotting results revealed reduced chorein immunoreactivity in the erythrocyte membranes of patients with MLS, which are equivalent to the heterozygous mutant carriers of ChAc (ChAc_hetero). (B and C) XK immunoblotting results revealed normal XK immunoreactivity in the erythrocyte membranes of ChAc and ChAc_hetero. (A–C) Each imaging was performed by underexposed condition for semiquantitative analysis. (D) The histograms show the chorein relative density ratio in patients with MLS and ChAc and ChAc_hetero. Each band density was normalized by protein density staining with MemCode reversible protein stain. Error bars represent the SD (each n = 6); 2-sample Student t tests were performed accordingly on different sets of data. **p < 0.01; ***p < 0.001. d shows the effect size (Cohen's d). (E) The histograms show the XK protein relative density ratio in patients with MLS and ChAc and ChAc_hetero. Each band density was normalized by protein density staining with memcode reversible protein stain. (F) Chorein immunoblotting results revealed equivalent chorein immunoreactivity in the lymphoblastoid cells of MLS_1 and the control (MLS_1_lympho and Control_lympho, respectively). The XK immunoblotting of lymphoblastoid cells shown in the lower panel of figure 2F reveals a lack of XK immunoreactivity. The Control_EM and MLS_EM lanes show the erythrocyte membrane for control and MLS, respectively. (G) Co-immunoprecipitation (IP) assay using K562 cells was performed with anti-XK antibody. Immunoblot analyses used anti-chorein (upper panel) and anti-XK antibodies (lower panel). (H) Co-IP and reverse co-IP assays using human embryonic kidney 293 (HEK293) cells stably overexpressing Myc-DDK–tagged chorein confirmed an interaction between XK protein and chorein. Immunoblot analyses used anti-XK protein and anti-chorein antibodies. Yuka Urata et al. Neurol Genet 2019;5:e328 © The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the 2019 American Academy of Neurology.