A5038421269- Genetic Neurodegenerative Diseases
- Lysosomal Storage Disorders Research
- Ion channel regulation and function
- Amyotrophic Lateral Sclerosis Research
- Myasthenia Gravis and Thymoma
- Peripheral Neuropathies and Disorders
- Neurogenetic and Muscular Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Muscle Physiology and Disorders
- Cardiomyopathy and Myosin Studies
- Biochemical and Molecular Research
- Cancer Treatment and Pharmacology
- Pain Mechanisms and Treatments
- Inflammatory Myopathies and Dermatomyositis
- Botulinum Toxin and Related Neurological Disorders
- Parkinson's Disease and Spinal Disorders
- Prion Diseases and Protein Misfolding
- Systemic Sclerosis and Related Diseases
- Carbohydrate Chemistry and Synthesis
- Child Nutrition and Feeding Issues
- Autoimmune Neurological Disorders and Treatments
- Long-Term Effects of COVID-19
- Cardiac electrophysiology and arrhythmias
- Metabolism and Genetic Disorders
- Hereditary Neurological Disorders
The University of Texas Southwestern Medical Center
2016-2025
Parkland Health & Hospital System
2025
Southwestern Medical Center
2014-2024
University of Florida
2016-2022
Centro Clinico Nemo
2022
University of Milan
2012-2022
Barrow Neurological Institute
2022
Duke University
2022
Assistance Publique – Hôpitaux de Paris
2022
University of Kansas Medical Center
2012-2022
To identify preferred neurofilament assays and clinically validate serum light (NfL) phosphorylated heavy (pNfH) as prognostic potential pharmacodynamic biomarkers relevant to amyotrophic lateral sclerosis (ALS) therapy development.In this prospective, multicenter, longitudinal observational study of patients with ALS (n = 229), primary 20), progressive muscular atrophy 11), biological specimens were collected, processed, stored according strict standard operating procedures (SOPs)....
Chronic, excess zinc intake can result in copper deficiency and profound neurologic disease. However, when hyperzincemia is identified, the source often remains elusive. We identified four patients, one previously reported, with various abnormalities setting of hypocupremia hyperzincemia. Each these patients wore dentures used very large amounts denture cream chronically.To determine concentration creams by as a possible ingestion.Detailed clinical laboratory data for each patient were...
We performed a retrospective chart review on 53 muscle-specific kinase antibody (MuSK-Ab)-positive myasthenia gravis (MG) patients at nine university-based centers in the U.S. Of these, 66% were Caucasian, 85% women, and age of onset was 9-79 years. Twenty-seven nonresponsive to anticholinesterase therapy. Myasthenia Gravis Foundation America improvement status achieved 53% corticosteroids, 51% with plasma exchange, 20% intravenous immunoglobulin (IVIG). Thymectomy beneficial 7/18 3...
In rare diseases it is difficult to achieve high-quality evidence of treatment efficacy because small cohorts and clinical heterogeneity. With emerging treatments for diseases, innovative trial designs are needed.To investigate the effectiveness mexiletine in nondystrophic myotonia using an aggregated N-of-1 trials design compare results between this a previously conducted RCT.A series aggregated, double-blind, randomized, placebo-controlled N-of-1-trials, performed single academic referral...
Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with considerable phenotypic overlap between diseases. Few prospective studies have evaluated the sensitivity of symptoms signs myotonia a large cohort patients. We performed observational study 95 participants definite or clinically suspected non-dystrophic recruited from six sites USA, UK Canada March 2006 2009. used common infrastructure data elements provided NIH-funded Rare...
To determine the safety and tolerability of mexiletine in a phase II double-blind randomized controlled trial sporadic amyotrophic lateral sclerosis (SALS).Sixty participants with SALS from 10 centers were 1:1:1 to placebo, 300 mg/d, or 900 mg/d followed for 12 weeks. The primary endpoints tolerability. Secondary pharmacokinetic study plasma CSF, ALS Functional Rating Scale-Revised (ALSFRS-R) score, slow vital capacity (SVC), muscle cramp frequency severity.The only serious adverse event...
To determine the short-term and long-term effects of dichlorphenamide (DCP) on attack frequency quality life in hyperkalemic (HYP) hypokalemic (HOP) periodic paralysis.Two multicenter randomized, double-blind, placebo-controlled trials lasted 9 weeks (Class I evidence), followed by a 1-year extension phase which all participants received DCP. Forty-four HOP 21 HYP participated. The primary outcome variable was average number attacks per week over final 8 double-blind phase.The median rate...
Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA) and subsequent glycogen accumulation. Avalglucosidase alfa, recombinant human GAA enzyme replacement therapy designed for increased cellular uptake clearance, has been studied long-term efficacy safety in patients with late-onset (LOPD). Here, we report up to 6.5 years' experience avalglucosidase alfa during the NEO1 NEO-EXT studies.NEO1 participants LOPD, either treatment...
Traditionally, amyotrophic lateral sclerosis (ALS) is recognised as a fatal neurodegenerative disease that typically emerges in the later decades of life, with life expectancy 2–5 years after symptom onset. We now understand ALS exhibits wide phenotypic clinical spectrum, significantly influenced by genetic factors. Here, we describe patient familial carrying heterozygous pathogenic H47R mutation superoxide dismutase 1 ( SOD1 ) gene. His presentation atypical, slow progressive course, lower...
Abstract This study presents a transcriptomic analysis of the cingulate cortex (CING) in Parkinson’s disease (PD) and dementia (PDD) using High-efficiency single-nucleus RNA sequencing (HiF-snRNA-seq) protocol optimized for post-mortem brain samples. quality prediction, poly-A tailing, dCas9-targeted depletion enabled 77 high-quality samples from 240 cases, yielding over 2 million nuclei classified into seven major cell types. Disease conditions revealed altered astrocyte microglia...
<h3>Importance</h3> Cryptogenic sensory polyneuropathy (CSPN) is a common generalized slowly progressive neuropathy, second in prevalence only to diabetic neuropathy. Most patients with CSPN have significant pain. Many medications been tried for pain reduction CSPN, including antiepileptics, antidepressants, and sodium channel blockers. There are no comparative studies that identify the most effective medication CSPN. <h3>Objective</h3> To determine which (pregabalin, duloxetine,...
Peripheral neuropathy is a common neurological disorder. There may be important differences and similarities in the diagnosis of peripheral between North America (NA) South (SA). Neuromuscular databases were searched for at two American sites, University Kansas Medical Center Texas Southwestern Center, one site, Federal Fluminense Brazil. All patients included into six major categories: immune-mediated, diabetic, hereditary, infectious/inflammatory, systemic/metabolic/toxic (not diabetic)...
: The objective of this study was to characterize the clinical features and natural history primary lateral sclerosis (PLS).: PLS is a motor neuron disorder defined by corticospinal corticobulbar tract dysfunction without clinically significant lower involvement.: We collected data from 25 patients with seen in 2 academic neurology departments over 5-year period.: population represented approximately 3% acquired disease cases during that period. Twenty-three (92%) presented limb weakness,...
Abstract Introduction : Non‐dystrophic myotonia (NDM) is caused by mutations in muscle chloride and sodium channels. Currently, there no standardized instrument for documenting symptom frequency severity NDM. Methods Subjects used an automated, interactive, telephone‐based voice response diary (IVR) to record of stiffness, weakness, pain, tiredness once a week 8 weeks, after their baseline visits. Results We describe the IVR report data on 76 subjects total 385 person‐weeks. Overall were 5.1...
Abstract Introduction/Aims Myxovirus resistance protein A (MxA) is a type I interferon (IFN1) pathway activation marker and MxA sarcoplasmic expression currently recognized as highly specific for dermatomyositis (DM). However, we have frequently observed endothelial tubuloreticular inclusions (TRI), another surrogate IFN1 marker, in variety of overlap myositides. The aim this study was to examine those Methods We retrospectively performed immunostaining on wide range Results present DM...
<h3>Background</h3> Neurological involvement occurs rarely with systemic sclerosis (SSc). Only a few cases of transverse myelopathy have been reported in the setting SSc. <h3>Objective</h3> To describe patient SSc who developed myelitis that improved during course immunosuppression. <h3>Results</h3> A 30-year-old woman presented subacute onset bilateral lower extremity weakness and numbness. Results magnetic resonance imaging cerebrospinal fluid studies supported diagnosis myelitis. The...
Abstract Introduction The primary objective of this study was to assess response plasma exchange (PLEX) in myasthenia gravis (MG) patients with and without autoantibodies (Ab) acetylcholine receptor (AChR) or muscle‐specific kinase (MuSK). Analysis also done determine if correlation existed between sex, early late onset MG, thymoma, thymectomy PLEX. Materials Methods Data analyzed on 58 consecutive MG treated Responses were categorized as complete response, clinical improvement requiring...
There have been a few case reports of motor neuron disease in association with Huntington (HD).To describe patient presenting prominent fasciculations, chorea, and possible amyotrophic lateral sclerosis (ALS) whom genetic testing revealed HD mutation.Case report.University Texas Southwestern Medical Center, Dallas. Patient A 69-year-old man chorea fasciculations.Genetic electrophysiologic testing.Genetic test result, physical examination.A long-standing depression failing memory presented...