Sumit Verma
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View article: Economic and clinical outcomes among patients with cholangiocarcinoma receiving pemigatinib with or without history of cancer of unknown primary
Economic and clinical outcomes among patients with cholangiocarcinoma receiving pemigatinib with or without history of cancer of unknown primary Open
Background There is limited evidence regarding the economic burden, treatment patterns, and overall survival (OS) of patients with cholangiocarcinoma (CCA) and cancer of unknown primary (CUP) who initiated the FGFR inhibitor pemigatinib. P…
View article: Mutations in the Key Autophagy Tethering Factor <scp>EPG5</scp> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Mutations in the Key Autophagy Tethering Factor <span>EPG5</span> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism Open
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating v…
View article: Biomarkers of immune dysregulation and posttreatment inflammation in spinal muscular atrophy
Biomarkers of immune dysregulation and posttreatment inflammation in spinal muscular atrophy Open
Spinal Muscular Atrophy (SMA) is a neurodegenerative disorder primarily affecting motor neurons, but immune dysfunction may contribute to disease progression and treatment response. While AAV9-delivered SMN1 gene therapy (e.g., Zolgensma) …
View article: Peripheral Neuropathy as an Early Marker in Newborn‐Screened Krabbe Disease: The Value of Pre‐Confirmatory Neurophysiological Testing
Peripheral Neuropathy as an Early Marker in Newborn‐Screened Krabbe Disease: The Value of Pre‐Confirmatory Neurophysiological Testing Open
Introduction Krabbe disease, or globoid cell leukodystrophy, is a rare autosomal recessive neurodegenerative disorder characterized by deficient activity of the lysosomal enzyme galactosylceramidase (GALC). This deficiency leads to the tox…
View article: Prevalence and Outcomes of Dental Trauma in Sports-Related Injuries in the Last 2 Years
Prevalence and Outcomes of Dental Trauma in Sports-Related Injuries in the Last 2 Years Open
A BSTRACT Background: Sports-related dental trauma is a prevalent issue among children and adolescents, particularly in contact sports such as football and basketball. Such injuries often result in aesthetic, functional, and psychological …
View article: Lack of motor defects and ALS-like neuropathology in heterozygous <i>Sptlc1</i> Exon 2 deletion mice
Lack of motor defects and ALS-like neuropathology in heterozygous <i>Sptlc1</i> Exon 2 deletion mice Open
Mutations in the human SPTLC1 gene have recently been linked to early onset amyotrophic lateral sclerosis (ALS), characterized by global atrophy, motor impairments, and symptoms such as tongue fasciculations. All known ALS - linked SPTLC1 …
View article: Orbicularis Oculi Stimulated Jitter Analysis in Children With Autoimmune Myasthenia Gravis
Orbicularis Oculi Stimulated Jitter Analysis in Children With Autoimmune Myasthenia Gravis Open
Introduction/Aims Stimulated jitter analysis (stim‐JA) involves analyzing the variation in time intervals between stimulations and action potentials, expressed as the mean consecutive difference (MCD). The MCD upper limits are derived from…
View article: Use of Natural Language Processing to Identify Myeloid/Lymphoid Neoplasm Patients with Fibroblast Growth Factor Receptor 1 Alterations
Use of Natural Language Processing to Identify Myeloid/Lymphoid Neoplasm Patients with Fibroblast Growth Factor Receptor 1 Alterations Open
Background : Myeloid/lymphoid neoplasms (MLN) with fibroblast growth factor receptor 1 (FGFR1) rearrangement are rare hematologic neoplasms with heterogeneous presentation and a poor prognosis. Pemigatinib, a potent, selective inhibitor of…
View article: Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in <i>Drosophila</i> and Vici syndrome patients
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in <i>Drosophila</i> and Vici syndrome patients Open
Epilepsy is a common neurological condition that arises from dysfunctional neuronal circuit control due to either acquired or innate disorders. Autophagy is an essential neuronal housekeeping mechanism, which causes severe proteotoxic stre…
View article: Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features Open
Background Neurogenetic disorders caused by pathogenic variants in four genes encoding non-erythrocytic spectrins ( SPTAN1, SPTBN1, SPTBN2, SPTBN4) range from peripheral and central nervous system involvement to complex syndromic presentat…
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: Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders
Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders Open
Autophagy is a fundamental and evolutionary conserved biological pathway with vital roles in intracellular quality control and homeostasis. The process of autophagy involves the engulfment of intracellular targets by autophagosomes and the…
View article: Result of the left bundle branch area pacing data collection registry, an international multicenter study of conduction system pacing with a Tendril STS 2088 stylet‐driven lead
Result of the left bundle branch area pacing data collection registry, an international multicenter study of conduction system pacing with a Tendril STS 2088 stylet‐driven lead Open
Introduction Left bundle branch area (LBBA) pacing (LBBAP) has been proposed as an alternative therapy option in patients indicated for cardiac pacing to treat bradycardia or heart failure. The aim of the study was to evaluate the safety a…
View article: Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in<i>Drosophila</i>and Vici Syndrome patients
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in<i>Drosophila</i>and Vici Syndrome patients Open
Epilepsy is a common neurological condition that arises from dysfunctional neuronal circuit control due to either acquired or innate disorders. Autophagy is an essential neuronal housekeeping mechanism, which causes severe proteotoxic stre…
View article: Outcome measures in pediatric chronic inflammatory demyelinating polyradiculoneuropathy
Outcome measures in pediatric chronic inflammatory demyelinating polyradiculoneuropathy Open
Introduction/Aims Objective outcome measures in children undergoing treatment for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are lacking. The aim of the study was to record serial grip strength and motor nerve conduct…
View article: Real-World Disease Burden and Healthcare Resource Utilization Among Patients with COPD and Asthma Using Triple Therapy (FF/UMEC/VI) in the United States
Real-World Disease Burden and Healthcare Resource Utilization Among Patients with COPD and Asthma Using Triple Therapy (FF/UMEC/VI) in the United States Open
FF/UMEC/VI reduced exacerbations among patients with COPD and asthma in a real-world setting in the US.
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: 86 Memory Performance in Children with Duchenne and Becker Muscular Dystrophy
86 Memory Performance in Children with Duchenne and Becker Muscular Dystrophy Open
Objective: There is limited and mixed research describing the memory performance of boys with Duchenne muscular dystrophy (DMD), a progressive disorder that affects the muscle and the brain, presumably due to the absence of dystrophin; how…
View article: CSF IL-8 Associated with Response to Gene Therapy in a Case Series of Spinal Muscular Atrophy
CSF IL-8 Associated with Response to Gene Therapy in a Case Series of Spinal Muscular Atrophy Open
Gene therapies have greatly changed the outlook in spinal muscular atrophy (SMA), and this disorder provides a rare opportunity to study longitudinal biomarker changes correlated with reduced disease burden and improved clinical outcomes. …
View article: Phenotypic continuum of <scp><i>NFU1</i></scp>‐related disorders
Phenotypic continuum of <span><i>NFU1</i></span>‐related disorders Open
Bi‐allelic variants in Iron–Sulfur Cluster Scaffold ( NFU1 ) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected …
View article: Assessment of salivary titanium levels among patients undergoing dental implants: A case control study
Assessment of salivary titanium levels among patients undergoing dental implants: A case control study Open
Background: Dentistry is a continually evolving branch of medicine that is significantly affected by technological developments. The goal of modern implant dentistry is to restore physiological function, comfort, aesthetics, speech, and he…