Elisa De La Cruz
A5065005090- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Muscle Physiology and Disorders
- Neurological diseases and metabolism
- Cholinesterase and Neurodegenerative Diseases
- Prion Diseases and Protein Misfolding
- biodegradable polymer synthesis and properties
- Facilities and Workplace Management
- interferon and immune responses
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Quinazolinone synthesis and applications
- Botulinum Toxin and Related Neurological Disorders
- Construction Project Management and Performance
- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- Pectus Deformity Diagnosis and Treatment
- Nuclear Structure and Function
- Coenzyme Q10 studies and effects
- Stroke Rehabilitation and Recovery
- Glutathione Transferases and Polymorphisms
- Silymarin and Mushroom Poisoning
- Histone Deacetylase Inhibitors Research
Inserm
2021-2025
Hôpital Gui de Chauliac
2017-2025
Université de Montpellier
2020-2025
Centre Hospitalier Universitaire de Montpellier
2017-2024
Institute for Neurosciences of Montpellier
2021-2024
Hôpital Saint Eloi
2021-2024
Takeda (United States)
2024
Centre Hospitalier de Perpignan
2016
Pfizer (United States)
2009-2010
Universidade da Coruña
2006-2008
Selecting the most appropriate blood tests is crucial for management of patients with amyotrophic lateral sclerosis (ALS). This study evaluates diagnostic and prognostic performance neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), phosphorylated tau 181 (pTau181) biomarkers in ALS to establish their clinical relevance cutoff values. In a cohort from center Montpellier, we conducted head-to-head comparison 4 different technologies 3 distinct serum analytes: NfL was...
Abstract Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some of which are associated with a distinct phenotype. Most studies assess limited or sample sizes. In this international, retrospective observational study, we compare phenotypic and demographic characteristics between people SOD1 -ALS ALS no recorded variant. We investigate age at symptom onset time from to death censoring using Cox proportional-hazards regression. The dataset reports for 1122...
Abstract Protein drugs that neutralize vascular endothelial growth factor (VEGF), such as aflibercept or ranibizumab, rescue vision in patients with retinal diseases. Nonetheless, optimal visual outcomes require intraocular injections frequently every month. Here we report a method to extend the intravitreal half-life of protein an alternative either encapsulation chemical modifications polymers. We combine 97-amino-acid peptide human origin binds hyaluronan, major macromolecular component...
The neurofilament light chain (NfL) assay is gradually becoming an essential diagnostic tool for the diagnosis of many neurological diseases including amyotrophic lateral sclerosis (ALS). Different methods determination this biomarker in serum have been developed recent years.We measured blood NfL 429 patients referred to tertiary ALS center Montpellier, France using two different ultrasensitive (Ella™ and Simoa™) we compared clinical performances these approaches. We also converted values...
Abstract Background In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had mainly involved children. Since 2020, the oral, selective SMN2-splicing modifier risdiplam has been restrictions evolving time. this peculiar context of lack data regarding adult patients, many questions were raised to define indications and appropriate follow-up in...
Little is known about the influence of Riluzole on serum neurofilament light chain (sNfL) levels, a biomarker prognosis in amyotrophic lateral sclerosis (ALS), and variations with time sNfL concentrations are controversial.Sera from ALS patients (n = 141) controls 33) were collected at inclusion (sNfL1) second visit (sNfL2, mean delay 10.4 ± 8.7 months). determined by single-molecule array, compared between both points. concentration changes (w/Ril) study those who treated following (w/o...
Caffeine consumption outcomes on Amyotrophic Lateral Sclerosis (ALS) including progression, survival and cognition remain poorly defined may depend its metabolization influenced by genetic variants. 378 ALS patients with a precise evaluation of their regular caffeine were monitored as part prospective multicenter study. Demographic, clinical characteristics, functional disability measured revised Functional Rating Scale (ALSFRS-R), cognitive deficits using Edinburgh Cognitive Behavioural...
Covid-19-related lockdown (LD) in France precluded in-person follow-up referral ALS centers. patients' evolution and worsening before during LD were studied to analyze its impact. A total of 84 patients identified. The monthly rate ALSFRS-R decline was 1.06 ± 1.42 significantly increased compared the pre-LD period, 0.58 0.73, corresponding an 83% increase (p = 0.007). Weight loss unchanged between LD, gender site onset did not influence rates change score. Several factors may be implicated...
The purpose of the work summarized here was to improve efficiency construction project management processes performed by Spanish civil service, identifying and analyzing main risks in these kinds projects, also establishing potential risk responses. scope this effort included a list 96 events, categorized prioritized first impact, then frequency. most relevant ones are related issues such as an inadequate prequalification system, insufficient training public servants, or political...
Background: In familial amyotrophic lateral sclerosis ALS cases the presence of an abnormal C9ORF72 repeat expansion (C9RE) is most frequent genetic cause identified. Various clinical phenotypes have been described in relation to C9RE, including psychiatric disorders or Huntington-like symptoms. a subset sporadic ALS, C9RE also described. present study all index-cases with and identified our centre their profile were as well neurological characteristics family members. Clinical patients...
Background Myosin heavy chain 7 ( MYH7 )-related myopathies -RMs) are a group of muscle disorders linked to pathogenic variants in the gene, encoding slow/beta-cardiac myosin chain, which is highly expressed skeletal and heart. The phenotype heterogeneous including distal, predominantly axial or scapuloperoneal with variable cardiac involvement. Methods We retrospectively analysed clinical, MRI, genetic myopathological features 57 patients. Patients received thorough neurological (n=57,...
Abstract Background Amyotrophic lateral sclerosis (ALS) is a highly debilitating neurodegenerative condition. Despite recent advancements in understanding the molecular mechanisms underlying ALS, there have been no significant improvements therapeutic options for ALS patients years. Currently, cure and only approved treatment Europe riluzole, which has shown to slow disease progression prolong survival by approximately 3 months. Recently, tauroursodeoxycholic acid (TUDCA) emerged as...
Aim: The aim of this study was to detect misfolded Cu/Zn SOD1 as a potential biomarker for amyotrophic lateral sclerosis (ALS). Materials & methods: Two ultrasensitive immunodetection assays were developed the quantification total and SOD1. Results: detection possible in human serum cerebrospinal fluid. Total increased fluid from ALS patients. Misfolded had low variable expression both control patient samples. Conclusion: These hold promise improving our understanding its detection, could...
The authors have studied the construction-related public procurement environment in United Kingdom to identify and analyze potential improvement strategies that may be applied Spain. paper comprises a comparative analysis of environments both countries. It focuses on recent programs enhance efficiency British administration, includes suggestions for improving those main keys their success. A Delphi was carried out Spain assess, qualitative terms, how efficiently easily could implemented...
Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent dystrophies and currently has no treatment. Clinical genetic heterogeneity are main challenges to a full comprehension of physiopathological mechanism. Improving our knowledge FSHD crucial development future therapeutic trials standards care. National registries have been set up this end. The French Registry combines clinical evaluation form (CEF) self-report questionnaire (SRQ), filled out by...
ABSTRACT Mutations in the superoxide dismutase 1 ( SOD1 ) gene are second most common known cause of ALS. variants express high phenotypic variability and over 200 have been reported people with Investigating how different affect protein dynamics might help understanding their pathogenic mechanism explaining heterogeneous clinical presentation. It was previously proposed that can be broadly classified two groups, ‘wild-type like’ (WTL) ‘metal binding region’ (MBR) variants, based on...
Abstract The molecular diagnosis of type 1 FacioScapuloHumeral Dystrophy (FSHD1) relies on the detection a shortened D4Z4 array at 4q35 locus while until recently, FSHD2 relied absence allele in clinically affected patients. vast majority patients carry heterozygous variant SMCHD1 gene. In addition, decreased DNA methylation is consistently associated with FSHD1 and FSHD2. genetic diagnostics, predicting pathogenicity SMCHD variants remains challenging, as many are classified unknown...
Abstract The Plasmodium falciparum cytoplasmic tyrosine tRNA synthetase ( Pf TyrRS) is an attractive drug target that susceptible to reaction-hijacking by AMP-mimicking nucleoside sulfamates. We previously identified exemplar pyrazolopyrimidine ribose sulfamate, ML901, as a potent pro-inhibitor of TyrRS. Here we examined the stage specificity action showing very good activity against schizont stage, but lower trophozoite activity. explored series ML901 analogues and ML471, which exhibits...
The Plasmodium falciparum cytoplasmic tyrosine tRNA synthetase ( Pf TyrRS) is an attractive drug target that susceptible to reaction-hijacking by AMP-mimicking nucleoside sulfamates. We previously identified exemplar pyrazolopyrimidine ribose sulfamate, ML901, as a potent reaction hijacking inhibitor of TyrRS. Here we examined the stage specificity action showing very good activity against schizont stage, but lower trophozoite activity. explored series ML901 analogues and ML471, which...