Figure 1 Clinical and genetic features of a family with Ile371Lys SYT2

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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 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

Figure 2 Spinal cord lesions

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

Figure Sural nerve electron microscopy

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

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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 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 1 Clinical features and pedigree

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

Figure 3 Temporal trends in FALS incidence

Table 4 Associations in SNP array data between the Braak stage and previously known AD risk loci (341 variants) comparing participants with Braak stage.

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.

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Figure 1 Two cases of XP-F with adult-onset neurologic deterioration

Figure 2 Linkage analysis of chromosome 19

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.

Figure 1 Family pedigree and MRI

Figure 3 Analysis of the prognostic value of IL-10–producing B cells or IL-6/IL-10–B-cell ratio measurements in patients with RIS/CIS MS Analysis of the.

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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.

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

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 6 Cellular composition after tissue dissociation

Figure 1 Pedigree and genetic findings

Figure 1 Histamine flare in patients and controls

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.

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Figure 2 Pedigrees of families and segregation analysis of variants c

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Figure 1. Pedigree and clinical picture of the patient

Figure 2 MRIs (cases 2 and 3)‏

Figure 2 LMNB1 mRNA expression

Figure 3 Within-group comparisons (before–after)‏

Figure 2 Between-group comparisons

Figure Pedigree, neuroimaging, and gene analysis

Figure 1 Segmentation of the normal-appearing periependymal white matter Segmentation of the normal-appearing periependymal white matter The figure demonstrates.

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.

Figure 3 A receiver operating characteristic curve of days to IVMP as a predictor of failure to regain 0.2 logMAR (20/30) vision (AUC 0.84, p < 0.001)‏

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Presentation transcript:

Figure 1 Clinical and genetic features of a family with Ile371Lys SYT2 Clinical and genetic features of a family with Ile371Lys SYT2 (A) Family pedigree reveals multiple affected family members supporting autosomal dominant inheritance. Filled symbols are clinically affected individuals, arrow denotes the proband. (B) Both the proband and her mother presented long-standing pes cavus and hammer toes. (C) Table summarizing electrophysiologic findings for the proband and her mother. Main findings were significant postexercise facilitation in compound muscle action potential amplitudes, significant decremental response to 3 Hz repetitive stimulation, and normal sural sensory responses. (D) Graph summary of the proband's repetitive stimulation study demonstrating both decremental response to 3 Hz repetitive stimulation and significant postexercise increment. (E) Sanger sequencing revealed a 1112T>A substitution in both the proband and her mother, resulting in an isoleucine (I) to lysine (K) change at residue 371. (F) This residue is highly conserved across species. ADM = abductor digiti minimi; amp = Amplitude; dCMAP = distal compound muscle action potential; N/A = not applicable; Rep. stim. = repetitive nerve stimulation; SNAP = sensory nerve action potential. Nataly I. Montes-Chinea et al. Neurol Genet 2018;4:e282 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.