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View article: The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study Open
Background Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability in males and the most common single gene cause of autism. This X-linked disorder is caused by an expansion of a trinucleotide CGG repeat (> 2…
View article: Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI
Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI Open
This study provides Class II evidence that quantitative WB-MSK-MRI findings associate with FSHD1 severity measured using established functional assessments.
View article: The Feasibility and Utility of Hair Follicle Sampling To Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome
The Feasibility and Utility of Hair Follicle Sampling To Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome Open
Background: Fragile X syndrome (FXS) is the most common cause inherited cause of intellectual disability in males and the most common single gene cause of autism. This X-linked disorder is caused by an expansion of a trinucleotide CGG repe…
View article: FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability
FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability Open
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. FXS is an X-linked, neurodevelopmental disorder caused by a CGG trinucleotide repeat expansion in the 5′ untranslated region (UTR) of the Fragile X Ment…
View article: Phase 1 clinical trial of losmapimod in facioscapulohumeral dystrophy: Safety, tolerability, pharmacokinetics, and target engagement
Phase 1 clinical trial of losmapimod in facioscapulohumeral dystrophy: Safety, tolerability, pharmacokinetics, and target engagement Open
Aims Evaluate safety, tolerability, pharmacokinetics (PK) and target engagement (TE) of losmapimod in blood and muscle in facioscapulohumeral dystrophy (FSHD). Methods This study included Part A: 10 healthy volunteers randomized to single …
View article: p38α Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy
p38α Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy Open
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the loss of repression at the D4Z4 locus leading to aberrant double homeobox 4 (DUX4) expression in skeletal muscle. Activation of this early embryonic transcription factor results…
View article: Evoked potentials as a translatable biomarker to track functional remyelination
Evoked potentials as a translatable biomarker to track functional remyelination Open
Enhancing remyelination is a key therapeutic strategy for demyelinating diseases such as multiple sclerosis. To achieve this goal, a central challenge is being able to quantitatively and longitudinally track functional remyelination, espec…
View article: P38α Regulates Expression of DUX4 in Facioscapulohumeral Muscular Dystrophy
P38α Regulates Expression of DUX4 in Facioscapulohumeral Muscular Dystrophy Open
FSHD is caused by the loss of repression at the D4Z4 locus leading to DUX4 expression in skeletal muscle, activation of its early embryonic transcriptional program and muscle fiber death. While progress toward understanding the signals dri…
View article: Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities
Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities Open
To date, there has been limited research on the primary concerns and treatment priorities for individuals with fragile X syndrome (FXS) and their families. The National Fragile X Foundation in collaboration with clinical investigators from…
View article: Predictors of response to opicinumab in acute optic neuritis
Predictors of response to opicinumab in acute optic neuritis Open
Objective The objective of this study was to evaluate prespecified and post hoc analyses in RENEW subgroups to identify participants more likely to benefit from opicinumab. Methods RENEW assessed the efficacy/safety of opicinumab versus pl…
View article: Initial Impairment and Recovery of Vision-Related Functioning in Participants With Acute Optic Neuritis From the RENEW Trial of Opicinumab
Initial Impairment and Recovery of Vision-Related Functioning in Participants With Acute Optic Neuritis From the RENEW Trial of Opicinumab Open
Background: Leucine-rich repeat and immunoglobulin domain-containing Nogo receptor-interacting protein 1 (LINGO-1) is a key suppressor of oligodendrocyte differentiation and axonal remyelination and regeneration. This analysis evaluated th…
View article: Development of a gait module to complement the 12-item Multiple Sclerosis Walking Scale: a mixed methods study
Development of a gait module to complement the 12-item Multiple Sclerosis Walking Scale: a mixed methods study Open
Background and objective The 12-item Multiple Sclerosis Walking Scale (MSWS-12) is a patient-reported outcome instrument that quantifies the progressive loss of walking ability from the patient perspective. However, previous psychometric a…
View article: Addressing the targeting range of the ABILHAND-56 in relapsing–remitting multiple sclerosis: A mixed methods psychometric study
Addressing the targeting range of the ABILHAND-56 in relapsing–remitting multiple sclerosis: A mixed methods psychometric study Open
Background ABILHAND, a manual ability patient-reported outcome instrument originally developed for stroke patients, has been used in multiple sclerosis clinical trials; however, psychometric analyses indicated the measure’s limited measure…
View article: Optimal Intereye Difference Thresholds in Retinal Nerve Fiber Layer Thickness for Predicting a Unilateral Optic Nerve Lesion in Multiple Sclerosis
Optimal Intereye Difference Thresholds in Retinal Nerve Fiber Layer Thickness for Predicting a Unilateral Optic Nerve Lesion in Multiple Sclerosis Open
Background: The optic nerve is a frequent site for involvement in multiple sclerosis (MS). Optical coherence tomography (OCT) detects thinning of the retinal nerve fiber layer (RNFL) in eyes of patients with MS and in those meeting criteri…
View article: Anti-LINGO-1 has no detectable immunomodulatory effects in preclinical and phase 1 studies
Anti-LINGO-1 has no detectable immunomodulatory effects in preclinical and phase 1 studies Open
This study provides Class II evidence that in patients with MS, opicinumab does not have immunomodulatory effects detected by changes in immune gene transcript expression.
View article: MRI evidence of acute inflammation in leukocortical lesions of patients with early multiple sclerosis
MRI evidence of acute inflammation in leukocortical lesions of patients with early multiple sclerosis Open
NCT00176592.
View article: Identification and validation of clinically meaningful benchmarks in the 12-item Multiple Sclerosis Walking Scale
Identification and validation of clinically meaningful benchmarks in the 12-item Multiple Sclerosis Walking Scale Open
Background: The 12-item Multiple Sclerosis Walking Scale (12-MSWS) is a validated questionnaire which assessed walking function; it has been widely adopted in multiple sclerosis (MS) clinical research. Objective: Identify and validate clin…
View article: MTR recovery in brain lesions in the BECOME study of glatiramer acetate vs interferon β-1b
MTR recovery in brain lesions in the BECOME study of glatiramer acetate vs interferon β-1b Open
This study provides Class III evidence that MTR recovery in patients with MS with new MRI brain lesions is greater with GA than with IFN-β-1b.