A. Reghan Foley
YOU?
Author Swipe
View article: Comparison of Laboratory and Field Methods for Biosand Filter Sand Characterization
Comparison of Laboratory and Field Methods for Biosand Filter Sand Characterization Open
The Centre for Affordable Water and Sanitation Technology (CAWST) (2012) recommends size standards for the effective size (ES) and uniformity coefficient (UC) of filtration media in biosand filters (BSFs) to ensure optimal effluent flow ra…
View article: Poster 227: Point-of-Care Motion Capture and Advanced Statistical Modeling as a Biomarker for Return-to-Sport Readiness following ACL Reconstruction
Poster 227: Point-of-Care Motion Capture and Advanced Statistical Modeling as a Biomarker for Return-to-Sport Readiness following ACL Reconstruction Open
Objectives: Few objective biomarkers exist to guide return-to-sport following anterior cruciate ligament reconstruction (ACLR). The ACL Return to Sport Index (ACL-RSI) has been proposed, which gauges patients’ psychological readiness for r…
View article: <scp><i>BCS1L</i></scp>‐Associated Disease: 5′‐<scp>UTR</scp> Variant Shifts the Phenotype Towards Axonal Neuropathy
<span><i>BCS1L</i></span>‐Associated Disease: 5′‐<span>UTR</span> Variant Shifts the Phenotype Towards Axonal Neuropathy Open
Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severi…
View article: Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C&gt;T
Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C>T Open
Collagen VI-related dystrophies manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterized by progressive muscle weakness, joi…
View article: 86 Defining return to sport in anterior cruciate ligament (ACL) injury recovery with mobile markerless motion capture: A cross-sectional analysis of factors associated with return to activity
86 Defining return to sport in anterior cruciate ligament (ACL) injury recovery with mobile markerless motion capture: A cross-sectional analysis of factors associated with return to activity Open
Objectives/Goals: Approximately 250,000 anterior cruciate ligament (ACL) tears occur annually in the USA. Symptoms generally improve after ACL reconstruction (ACLR), but 20% of athletes do not return to sport. It is not clear how biomechan…
View article: FP4.9 Hip Arthroscopy for Femoroacetabular Impingement Syndrome Restores Kinematics to the Contralateral Side by One Year after Surgery
FP4.9 Hip Arthroscopy for Femoroacetabular Impingement Syndrome Restores Kinematics to the Contralateral Side by One Year after Surgery Open
Background: Femoroacetabular impingement syndrome (FAIS) is common in athletes, yet little is understood about the effect of biomechanics and how they alter after hip arthroscopy. This study aimed to assess the impact of hip arthroscopy on…
View article: Clinical characterization of Collagen <scp>XII</scp>‐related disease caused by biallelic <i>COL12A1</i> variants
Clinical characterization of Collagen <span>XII</span>‐related disease caused by biallelic <i>COL12A1</i> variants Open
Objective While there have been several reports of patients with dominantly acting COL12A1 variants, few cases of the more severe recessive Collagen XII‐related disorders have previously been documented. Methods We present detailed clinica…
View article: Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic <i>TTN-</i> related myopathy
Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic <i>TTN-</i> related myopathy Open
Background: The accurate diagnosis of titin-related myopathies ( TTN -RM) is challenging due to the “gigantism” of the coding gene TTN with an incompletely understood landscape of normal genetic variation, an increasing number of pathogeni…
View article: Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation Open
Biallelic pathogenic variants in the gene encoding nebulin (NEB) are a known cause of congenital myopathy. We present two brothers with congenital myopathy and compound heterozygous variants (NC_000002.12:g.151692086G>T; NM_001271208.2: c.…
View article: CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes Open
Cytoplasmic and nuclear iron-sulfur (Fe-S) enzymes that are essential for genome maintenance and replication depend on the cytoplasmic Fe-S assembly (CIA) machinery for cluster acquisition. The core of the CIA machinery consists of a compl…
View article: Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy Open
Clinical Trials NCT01805024.
View article: Effects of HMGCR deficiency on skeletal muscle development
Effects of HMGCR deficiency on skeletal muscle development Open
Pathogenic variants in HMGCR were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes a key component of the cholesterol synthesis pathway. The two other muscle dise…
View article: Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease Open
Troponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-fast ( TNNI2 ) and TnI-slow ( TNNI1 ), are predominantly expressed in fast- and slow-twitch myofibers, respectively. TNNI2 variants are a rare ca…
View article: The recurrent deep intronic pseudoexon-inducing variant<i>COL6A1</i>c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
The recurrent deep intronic pseudoexon-inducing variant<i>COL6A1</i>c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy Open
Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterised by progressive muscle we…
View article: Differential inclusion of<i>NEB</i>exons 143 and 144 provides insight into<i>NEB</i>-related myopathy variant interpretation and disease manifestation
Differential inclusion of<i>NEB</i>exons 143 and 144 provides insight into<i>NEB</i>-related myopathy variant interpretation and disease manifestation Open
Biallelic pathogenic variants in the gene encoding nebulin ( NEB ) are a known cause of congenital myopathy. We present two individuals with congenital myopathy and compound heterozygous variants (NM_001271208.2: c.2079C>A; p.(Cys693Ter) a…
View article: Recurring homozygous <scp>ACTN2</scp> variant (p.<scp>Arg506Gly</scp>) causes a recessive myopathy
Recurring homozygous <span>ACTN2</span> variant (p.<span>Arg506Gly</span>) causes a recessive myopathy Open
Objective ACTN2, encoding alpha‐actinin‐2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic va…
View article: The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders
The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders Open
The design of a clinical trial for a rare disease can be challenging. An optimal study design is required to effectively study the clinical outcomes for possible therapies for these types of disorders. Understanding the study participants'…
View article: Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes Open
Cytoplasmic and nuclear iron-sulfur enzymes that are essential for genome maintenance and replication depend on the cytoplasmic iron-sulfur assembly (CIA) machinery for cluster acquisition. Here we report that patients with biallelic loss …
View article: Recurrent<i>de-novo gain-of-function</i>mutation in<i>SPTLC2</i>confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
Recurrent<i>de-novo gain-of-function</i>mutation in<i>SPTLC2</i>confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis Open
Background Amyotrophic lateral sclerosis (ALS) leads to paralysis and death by progressive degeneration of motor neurons. Recently, specific gain-of-function mutations in SPTLC1 were identified in patients with juvenile form of ALS . SPTLC…
View article: A comprehensive study of skeletal muscle imaging in <scp><i>FHL1</i></scp>‐related reducing body myopathy
A comprehensive study of skeletal muscle imaging in <span><i>FHL1</i></span>‐related reducing body myopathy Open
Objective FHL1 ‐related reducing body myopathy is an ultra‐rare, X‐linked dominant myopathy. In this cross‐sectional study, we characterize skeletal muscle ultrasound, muscle MRI, and cardiac MRI findings in FHL1 ‐related reducing body myo…
View article: Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy Open
Missense variants in RNA-binding proteins (RBPs) underlie a spectrum of disease phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. Here, we present ten independent families with a sev…
View article: Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With <i>SMCHD1</i> Variants
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With <i>SMCHD1</i> Variants Open
In this cross-sectional study, we identified patients with arhinia who meet the full genetic and epigenetic criteria for FSHD2 and display the molecular hallmark of FSHD-DUX4 de-repression and expression in vitro-but who do not manifest wi…