Figure 2 Flow chart of patients who met the inclusion/exclusion criteria for the study Flow chart of patients who met the inclusion/exclusion criteria.

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Figure Pedigrees of the SCA42 families identified in this study

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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

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Figure 1 Patient flow diagram

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

Figure 3 Genetic pleiotropy in ALS

Figure Pedigree of the family

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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 Temporal trends in FALS incidence

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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 Linkage analysis of chromosome 19

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

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

Figure 1 Family pedigree and MRI

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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 3 Voltage-clamp recording of the wild-type KCNJ18 (left) and the KCNJ18 carrying the patient's SNVs (right) expressed in Xenopus laevis oocytes.

Figure 1 Proportions of the major B-cell subsets in DMF-treated patients Proportions of the major B-cell subsets in DMF-treated patients B cells were collected.

Figure 1 Flowchart of patient inclusion

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Figure 1 Histamine flare in patients and controls

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Figure 2 Pedigrees of families and segregation analysis of variants c

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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 LMNB1 mRNA expression

Figure 1 ASO functions ASO functions Target mRNA fates depending on ASO mechanism of action that is determined by where the ASO is targeted and by ASO.

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Figure Pedigree, neuroimaging, and gene analysis

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 2 Flow chart of patients who met the inclusion/exclusion criteria for the study Flow chart of patients who met the inclusion/exclusion criteria for the study (A) All patients with ALS registered with the Irish ALS register from 1994 to 2016 who reported a history of suspected or confirmed ALS or FTD in at least 1 relative were identified. All patients with an established, highly penetrant ALS variant (C9orf72 89, TARDBP 1, FUS 2, SOD1 1, and SQSTM1 1) were identified from the DNA database. (B) Thirty-five patients with a family history suspicious for ALS or FTD in whom it was not possible to confirm the relatives' diagnoses and 9 patients with Kennedy disease were excluded. Five C9orf72-positive patients with a family history suspicious for ALS or FTD in whom it was not possible to confirm the relatives' diagnoses were recategorized into gene-positive only category. ALS = amyotrophic lateral sclerosis; FTD = frontotemporal lobar dementia. Marie Ryan et al. Neurol Genet 2018;4:e239 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.