Additional file 3: Table S2. of A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

Descriptive statistics obtained from data collection for all assessed symptoms. (DOCX 22 kb

Additional file 4: Table S3. of A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

Univariate logistic regression model results. (DOCX 16 kb

Additional file 1: Figure S1. of A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

Medical chart record form (MCRF). (TIF 3789 kb

NKCC1 and KCC2 Cotransporters in the CSF of Rett Syndrome (RTT) Patients and Controls.

<p>(A) Immunoblot results in RTT patients and controls. Numbers refer to the patient ID numbers of <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0068851#pone-0068851-t001" target="_blank">Table 1</a>. Comparison of patients and age matched controls. (B) Mean Optic Densities of NKCC1 and KCC2 Cotransporter Proteins for Rett Patients and Controls suggesting discrepant cotransporter levels between Patients and Controls supported by the respective MANCOVA (<i>F</i> (1, 73) = 6.99, <i>p</i><.01, <i>η_p²</i> = .087). Error bars represent 95% Confidence Interval. *<i>p</i><.01.</p

Additional file 5: Figure S2. of A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

Distribution and mean (±SD) RPS in NP-C cases, NP-C non-cases and controls. The frequency distribution of individual patient total RPS, fitted with a normal distribution curve (solid line), demonstrates a clear distinction between NP-C cases, NP-C non-cases and controls. RPS, risk prediction score; SD, standard deviation. (PDF 1390 kb

Clinical and laboratory features of Rett Syndrome patients included in the study.

<p>DEL: Deletion. LP: Lumbar Puncture. AED: Anti epileptic drugs. VPA: Valproic Acid. CBZ: Carbamazepine. LEV: Levetiracetam. TPM: Topiramate.</p

Cation Chloride Cotransporters ratio.

<p>(A) Immunoblot analysis of NKCC1 and KCC2. (B) Scatterplot of the relationship between Cotrasporters ratio (KCC2/NKCC1) and age for Rett Patients and Controls. Lines show a LOWESS smooth (locally-weighted polynomial regression - nonparametric smooth) suggesting a discrepant cotransporter ratio between Patients and Controls supported by the respective ANCOVA (<i>F</i> (1, 70) = 30.08, <i>p</i> = .001, <i>η_p²</i> = .29). (C) Boxplot of Cotransporters ratio (KCC2/NKCC1) for Rett Patients and Controls (males and females). <i>*p</i> = 0.001.</p

Correlation analysis between GDF-15 and FGF-21.

<p>serum levels in samples from all patient groups taken as a whole (A), group 1(B), group 2 (C) and group 3(D).</p

Correlation analysis between GDF-15 and FGF-21 protein levels.

<p>in the conditioned medium of C2C12 cells treated with respiratory chain inhibitors.</p

Effects of experimentally induced mitochondrial dysfunction on GDF-15 mRNA expression and GDF15 protein release in muscle cells.

<p>GDF15 mRNA and FGF21 mRNA levels in C2C12 myotubes (A) or LHCN myotubes (B), and correlation between GDF-15 mRNA levels and FGF21 mRNA levels (C) in the experimental settings in C2C12 cells (up) and LHCN cells (down). GDF-15 protein concentrations in C2C12 cell culture medium (D). Bars are means ±S.E.M. from 4–6 independent experiments. *p <0.05, **p <0.01, ***p <0.001, relative to untreated controls. ^# p <0.05, relative to corresponding condition non-treated with Trolox. R and P values are shown in the correlation panel C.</p