Figure 1 The de novo p.Lys33Gln mutation leads to OXPHOS defect in muscle The de novo p.Lys33Gln mutation leads to OXPHOS defect in muscle (A) Histopathologic.

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Figure Pedigrees of the SCA42 families identified in this study

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Figure 3 Pedigree of familial idiopathic transverse myelitis

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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 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 Tibialis anterior muscle biopsy of P1 (A) Increased fiber size variation, ring fibers, slight endomysial fibrosis, and prominent clear mainly.

Figure 4 Detection of EBER+ cells in MS and control brains by in situ hybridization Detection of EBER+ cells in MS and control brains by in situ hybridization.

Figure 2 Muscle histology and morphometric analysis demonstrating muscle fiber hypertrophy, occasional internalized nuclei and slight irregularity in the.

Figure 1 Histopathologic features of case 1 (A–G) and case 2 (H–L)‏

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

Figure 2 The p.Lys33Gln mutation eliminates a conserved salt bridge interaction of the matrix network The p.Lys33Gln mutation eliminates a conserved salt.

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 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 2 Histopathologic findings of patients with both inflammatory myopathy and myasthenia gravis Histopathologic findings of patients with both inflammatory.

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 1 Sections of muscle biopsy specimens stained with hematoxylin & eosin (HE)‏ Sections of muscle biopsy specimens stained with hematoxylin & eosin.

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

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

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Figure 4 Transcriptome dynamics of patient and control neurons

Figure 2 Imaging, histopathology, and molecular evaluation of case 3 with subtler MRI findings Imaging, histopathology, and molecular evaluation of case.

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Figure 2 Analysis of muscle and nerve histopathology and muscle mtDNA deletions (A) Representative muscle biopsy shows a cytochrome c oxidase (COX)-negative.

Figure 1 Histamine flare in patients and controls

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

Figure 2 Changes in fatigue under treatment

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

Figure 1 Stacked bar chart depicts the proportion of patients with diffusion-weighted imaging (DWI)+ and DWI− scans categorized by index event type TIA.

Figure 4 CHCHD2 but not TOP1MT expression rescues molecular defects

Figure 2 Brain biopsy of 2 patients with anti-MOG encephalitis initially misdiagnosed with small vessel CNS vasculitis Brain biopsy of 2 patients with.

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

Figure 1 Analysis of inflammatory cells in muscle biopsies

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

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

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Figure Unique second neurofibromatosis type 1 (NF1) gene mutations in multiple café-au-lait macules (CALMs) from an individual with segmental NF1 Unique.

Figure 2 LMNB1 mRNA expression

Figure 3 Bilateral optic atrophy and sural nerve biopsy of patient AII-2 Bilateral optic atrophy and sural nerve biopsy of patient AII-2 (A) Red-free photographs.

Figure 3 Within-group comparisons (before–after)‏

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 2 Correlations of subcortical gray matter SUVRs with the EDSS score, T25FW, and BPV in MS Correlations of subcortical gray matter SUVRs with the.

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

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Figure 1 The de novo p.Lys33Gln mutation leads to OXPHOS defect in muscle The de novo p.Lys33Gln mutation leads to OXPHOS defect in muscle (A) Histopathologic analysis of patient skeletal muscle sections showing hematoxylin and eosin (H&E) staining (far left), COX histochemistry (middle left), SDH histochemistry (middle right), and sequential COX-SDH histochemistry (far right). Scale bar = 100 µm. (B) Respiratory chain profile following quadruple oxidative phosphorylation immunofluorescence analysis of cryosectioned muscle from the index case, confirming the presence of fibers lacking complex I (NDUFB8) and complex IV (COXI) protein. Each dot represents the measurement from an individual muscle fiber, color coded according to its mitochondrial mass (blue-low, normal-beige, high-orange, and very high–red). Gray dashed lines indicate SD limits for the classification of fibers. Lines next to x- and y-axes represent the levels (SDs from the average of control fibers after normalization to porin/VDAC1 levels; _z= Z-score, see Methods section of Rocha et al. 2015 for full description of statistics7) of NDUFB8 and COX1, respectively (beige = normal [>−3], light beige = intermediate positive [−3 to−4.5], light purple = intermediate negative [−4.5 to −6], and purple = deficient [<−6]). Bold dotted lines indicate the mean expression level observed in respiratory normal fibers. (C) Western blot analysis of AAC and OXPHOS complex subunits on control and patient skeletal muscle samples. AAC = ADP/ATP carrier; ADP = adenosine diphosphate; ATP = adenosine triphosphate; COX = cytochrome c oxidase; GADPH = Glyceraldehyde 3-phosphate dehydrogenase; OXPHOS = oxidative phosphorylation; SDH = succinate dehydrogenase. Martin S. King et al. Neurol Genet 2018;4:e256 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.