Search Results - "Gómez, Petra Yescas"
-
1
Ovarioleukodystrophy Due to EIF2B Genes: Systematic Review and Case Report
Published in Curēus (Palo Alto, CA) (13-07-2024)“…Leukodystrophies comprise a spectrum of genetic disorders affecting white matter (WM) formation in the central nervous system (CNS), of which vanishing white…”
Get full text
Journal Article -
2
Genetic mutations in early-onset Parkinson's disease Mexican patients: Molecular testing implications
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01-04-2014)“…Mutations in PARK2, PINK1, and DJ‐1 have been associated with autosomal recessive early‐onset Parkinson's disease. Here, we report the prevalence of sequence…”
Get full text
Journal Article -
3
High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease
Published in Movement disorders (01-07-2012)“…Background: Parkin mutations in patients with early‐onset Parkinson's disease (EOPD) are estimated to occur in 49% of familial cases and 18% of sporadic cases…”
Get full text
Journal Article -
4
Oxidative Stress Associated with Neuronal Apoptosis in Experimental Models of Epilepsy
Published in Oxidative medicine and cellular longevity (01-01-2014)“…Epilepsy is considered one of the most common neurological disorders worldwide. Oxidative stress produced by free radicals may play a role in the initiation…”
Get full text
Journal Article -
5
Apparent Diffusion Coefficient Measurements. A Reliable Tool for the Diagnosis of Creutzfeldt-Jakob Disease
Published in Archives of medical research (01-02-2025)“…Creutzfeldt-Jakob disease (CJD) is a rare, rapidly fatal neurodegenerative disorder. The gold standard test for a positive diagnosis of definite CJD is…”
Get full text
Journal Article -
6
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases
Published in Annals of neurology (01-06-2016)“…Objective The polyglutamine diseases, including Huntington's disease (HD) and multiple spinocerebellar ataxias (SCAs), are among the commonest hereditary…”
Get full text
Journal Article -
7
Presymptomatic Testing for Huntington's Disease in Mexico: 28 Years of Experience
Published in Archives of medical research (01-06-2024)“…Huntington's disease (HD) is a genetic neurodegenerative disorder with dominant inheritance. Our center in Mexico City has offered presymptomatic testing (PT)…”
Get full text
Journal Article -
8
Genetics of Alzheimer’s Disease
Published in Archives of medical research (01-11-2012)“…Alzheimer’s disease (AD) is the most frequent cause of dementia in the elderly and represents an important and increasing clinical challenge in terms of…”
Get full text
Journal Article -
9
Matrix metalloproteinases deregulation in amyotrophic lateral sclerosis
Published in Journal of the neurological sciences (15-12-2020)“…Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the loss of upper and lower motor neurons that results in progressive…”
Get full text
Journal Article -
10
Immunohistochemical Study of Antioxidant Enzymes Regulated by Nrf2 in the Models of Epileptic Seizures (KA and PTZ)
Published in Oxidative medicine and cellular longevity (01-01-2019)“…Epilepsy is a neurological disorder characterized by recurrent spontaneous seizures due to an imbalance between cerebral excitability and inhibition, with a…”
Get full text
Journal Article -
11
Expression of nuclear factor-erythroid 2-related factor 2 in rat brain following the administration of kainic acid and pentylenetetrazole
Published in Neuroreport (20-03-2019)“…Epilepsy is a neurological disorder of the central nervous system characterized by hypersynchronized neuronal activity and has been associated with oxidative…”
Get full text
Journal Article -
12
Immunohistochemical study of Metallothionein in patients with temporal lobe epilepsy
Published in Journal of clinical neuroscience (01-05-2017)“…Highlights • Temporal lobe epilepsy is one of the most frequent types of focal acquired epilepsy. • Oxidative stress as plays a role in several neurological…”
Get full text
Journal Article -
13
Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families
Published in Neurogenetics (01-03-2014)“…Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disease characterized by progressive cerebellar ataxia and macular degeneration causing…”
Get full text
Journal Article -
14
-
15
Association of R230C ABCA1 gene variant with low HDL-C levels and abnormal HDL subclass distribution in Mexican school-aged children
Published in Clinica chimica acta (06-09-2010)“…The effect of ABCA1 genetic variation on HDL-C levels has been widely documented, although studies in children are scarce. We recently found a frequent…”
Get full text
Journal Article -
16
Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico
Published in Journal of the neurological sciences (15-03-2016)“…Abstract Introduction The pathophysiology of PD (Parkinson's disease) has been related to the ubiquitin proteasome system and oxidative stress. Parkin acts as…”
Get full text
Journal Article -
17
B48 DNA repair pathways as a common genetic mechanism modulating the age at onset in polyglutamine diseases
Published in Journal of neurology, neurosurgery and psychiatry (01-09-2016)“…BackgroundOver 30 human diseases are caused by expansion of unstable microsatellite sequences. Nine of these are caused by expanded CAG tracts encoding…”
Get full text
Journal Article -
18
The ATP-Binding Cassette Transporter A1 R230C Variant Affects HDL Cholesterol Levels and BMI in the Mexican Population
Published in Diabetes (New York, N.Y.) (01-07-2007)“…The ATP-Binding Cassette Transporter A1 R230C Variant Affects HDL Cholesterol Levels and BMI in the Mexican Population Association With Obesity and…”
Get full text
Journal Article -
19
Is tau protein’s h1 haplotype involved in the clinical presentation of Alzheimer's disease?
Published in Alzheimer's & dementia (01-07-2015)Get full text
Journal Article -
20
P2‐089: Is tau protein's h1 haplotype involved in the clinical presentation of Alzheimer's disease?
Published in Alzheimer's & dementia (01-07-2015)Get full text
Journal Article