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Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.

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Presentation on theme: "Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband."— Presentation transcript:

1 Figure Family pedigree and clinical improvement with riboflavin treatment
Family pedigree and clinical improvement with riboflavin treatment (A) The proband is marked with an arrow. This is a family member recently studied, while subjects II.8, II.9, II.10, and III.3 were previously described in Arq Neuropsiquiatr 2007;65(1):32–35. Squares represent males, and circles represent females. Black symbols represent affected family members. The proband's mother and father were found to be heterozygous for the SLC52A3 insertion (+/−). The mutation was found in homozygosity in the proband (+/+) and her aunt. (B and C) Proband's interosseal atrophy. (D and E) Improvement in facial weakness and (F and G) tongue atrophy after initiation of 1,800 mg of riboflavin. Sarah Camargos et al. Neurol Genet 2018;4:e215 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Figure Pedigrees of the SCA42 families identified in this study
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Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.
Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

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 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 3 Pedigree of familial idiopathic transverse myelitis
Figure 1 Box plot of the venous diameter in lesions

Figure 1 Box plot of the venous diameter in lesions
Figure 2 Needle biopsy of the left vastus lateralis

Figure 2 Needle biopsy of the left vastus lateralis
Figure 2 Spinal cord lesions

Figure 2 Spinal cord lesions
Figure Cerebral MRI and molecular and enzymatic analysis

Figure Cerebral MRI and molecular and enzymatic analysis
Figure 1 Coronal MRI images showing the evolution of white matter abnormality and atrophy of patient 1 Coronal MRI images showing the evolution of white.

Figure 1 Coronal MRI images showing the evolution of white matter abnormality and atrophy of patient 1 Coronal MRI images showing the evolution of white.
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 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 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 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 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.
Figure 1 Comparison of miR-150-5p (log scale), prednisone dose (mg), and QMG score between the thymectomy (ETTX) and prednisone groups Comparison of miR-150-5p.

Figure 1 Comparison of miR-150-5p (log scale), prednisone dose (mg), and QMG score between the thymectomy (ETTX) and prednisone groups Comparison of miR-150-5p.
Figure Pedigree of the family

Figure Pedigree of the family
Figure 1 Linear relationship between CSF inflammation and glucose in meningitis; analysis stratified by diagnostic category (aseptic, n = 115 and microbial,

Figure 1 Linear relationship between CSF inflammation and glucose in meningitis; analysis stratified by diagnostic category (aseptic, n = 115 and microbial,
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 3 Molecular genetics

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