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List of works by Iscia Lopes-Cendes

A Interleucina 1-beta mostra uma ação protetora na fase aguda do modelo de epilepsia induzido pela pilocarpina

article published in 2010

A Locus Identified on Chromosome18P11.31 is Associated with Hippocampal Abnormalities in a Family with Mesial Temporal Lobe Epilepsy ⬇️

scientific article published on August 10, 2012

A caracterização do perfil de expressão gênica em larga escala em modelos genéticos de epilepsia fornece elementos para entender os mecanismos envolvidos na epileptogênese em roedores

A combined voxel-based morphometry and 1H-MRS study in patients with Friedreich's ataxia

scientific article published on 12 March 2009

A comparison between different reference genes for expression studies in human hippocampal tissue

scientific article published on 3 May 2012

A genética das epilepsias

A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27

scientific article published on 01 May 2008

A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.

scientific article

A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process

scientific article

Analysis of energetically biased transcripts of viruses and transposable elements

scientific article published on 13 November 2012

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

scientific article

Antiepileptic drug response in temporal lobe epilepsy: A clinical and MRI morphometry study

article

Atrophy of mesial structures in patients with temporal lobe epilepsy: Cause or consequence of repeated seizures?

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

scientific article published on February 1994

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24

scientific article

Axonal dysfunction in the deep white matter in Machado-Joseph disease

scientific article published on 8 May 2008

Benchmarking the proteomic profile of animal models of mesial temporal epilepsy

scientific article published on 03 March 2022

Bilateral posterior parietal polymicrogyria: a mild form of congenital bilateral perisylvian syndrome?

scientific article published in July 2001

Brain glyceraldehyde-3-phosphate dehydrogenase activity in human trinucleotide repeat disorders

scientific article published in October 1998

Caring for Machado-Joseph disease: current understanding and how to help patients

scientific article published on 06 October 2009

Characterization of language and reading skills in familial polymicrogyria.

scientific article published on 24 October 2007

Chronic Pain in Machado-Joseph Disease

scientific article published on 01 December 2007

Circulating Metabolites as Biomarkers of Disease in Patients with Mesial Temporal Lobe Epilepsy

scientific article published on 17 May 2022

Circulating Metabolites as Potential Biomarkers for Neurological Disorders-Metabolites in Neurological Disorders

scientific article published on 29 September 2020

Clinical and Genetic Heterogeneity in Familial Temporal Lobe Epilepsy

scientific article published on 01 January 2002

Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype

scientific article

Clinical correlates of autonomic dysfunction in patients with Machado-Joseph disease

scientific article published on 11 January 2010

Clinical presentation of juvenile Huntington disease

scientific article published in March 2006

Congenital bilateral perisylvian syndrome: familial occurrence, clinical and psycholinguistic aspects correlated with MRI.

scientific article published in June 2008

Correlation between quantitative EEG and MRI in idiopathic generalized epilepsy

scientific article published in September 2010

Cryptic anhydrobiotic potential in man: Implications in medicine

scientific article published on 14 July 2009

Decrease in presynaptic inhibition on heteronymous monosynaptic Ia terminals in patients with Parkinson's disease

scientific article published on 01 September 2000

Demographic history differences between Hispanics and Brazilians imprint haplotype features

scientific article published in 2022

Distribution of local ancestry and evidence of adaptation in admixed populations

scientific article published on 25 September 2019

Do we need a new look in the definition of X-linked recessive disorders?

scientific article published on 01 July 2012

Dysautonomia is frequent in Machado-Joseph disease: clinical and neurophysiological evaluation

scientific article

EEG features in idiopathic generalized epilepsy: clues to diagnosis

scientific article published in March 2006

Emerging RNA-based drugs: siRNAs, microRNAs and derivates

scientific article published on September 2012

Epilepsias parciais familiares

scientific article published on 01 September 2000

Epileptic features of patients with unilateral and bilateral schizencephaly

scientific article published on September 2006

Estudos genéticos e moleculares em um grande grupo de pacientes com malformações do córtex cerebral

Evidence for the existence of a fourth dominantly inherited spinocerebellar ataxia locus

article

Evidence of memory impairment in asymptomatic individuals with hippocampal atrophy.

scientific article published in December 2004

Evidence of thalamic dysfunction in Huntington disease by proton magnetic resonance spectroscopy

scientific article

Experimental animal model and RNA interference: a promising association for bladder cancer research.

scientific article published on 13 February 2009

Expression profile and distribution of Efhc1 gene transcript during rodent brain development

scientific article

Expression profile of Lgi1 gene in mouse brain during development

scientific article published on 18 June 2008

Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12

article

Familial Temporal Lobe Epilepsy with Auditory Features

scientific article published on 01 January 2005

Family history of cancer in Brazil: is it being used?

scientific article published on 10 January 2008

Family-based association study for bipolar affective disorder.

scientific article published in June 2010

Genetic linkage studies in familial frontal epilepsy: Exclusion of the human chromosome regions homologous to the El-1 mouse locus

article

Genetic testing in the epilepsies--report of the ILAE Genetics Commission

scientific article

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

scientific article published on 23 March 2020

Genotype-Phenotype correlation in Dravet Syndrome with SCN1A mutation increase efficiency of molecular diagnosis

Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3

article

Infratentorial gray matter atrophy and excess in primary craniocervical dystonia.

scientific article published on 5 November 2013

Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

scientific article published on 18 September 2012

Interactions of polymorphisms in different clock genes associated with circadian phenotypes in humans

scientific article

Interferon-beta induces major histocompatibility complex of class I (MHC-I) expression and a proinflammatory phenotype in cultivated human astrocytes

scientific article published in 2022

Interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development

scientific article published in July 2002

LINKGEN: a new algorithm to process data in genetic linkage studies.

scientific article

Laser microdissection-based microproteomics of the hippocampus of a rat epilepsy model reveals regional differences in protein abundances

scientific article published on 10 March 2020

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins

article

Linkage study of voltage-gated potassium channels in familial mesial temporal lobe epilepsy.

scientific article

Long term follow up of familial mesial temporal lobe epilepsy

Longitudinal MRI volumetric evaluation in patients with familial mesial temporal lobe epilepsy.

scientific article published on 14 February 2011

Longitudinal analysis of regional grey matter loss in Huntington disease: effects of the length of the expanded CAG repeat.

scientific article

MEF2C silencing attenuates load-induced left ventricular hypertrophy by modulating mTOR/S6K pathway in mice

scientific article

MRI Shows Dorsal Lesions and Spinal Cord Atrophy in Chronic Sensory Neuronopathies

MRI and EEG as long-term seizure outcome predictors in familial mesial temporal lobe epilepsy

scientific article published on 28 November 2012

MRI reveals structural abnormalities in patients with idiopathic generalized epilepsy

scientific article published in September 2006

MRI volumetry shows increased anterior thalamic volumes in patients with absence seizures

scientific article published on 10 March 2006

MRI-texture analysis of corpus callosum, thalamus, putamen, and caudate in Machado-Joseph disease

scientific article

Machado-Joseph disease versus hereditary spastic paraplegia: case report

scientific article published on 01 September 2001

Magnetic resonance imaging evidence of hippocampal sclerosis in asymptomatic, first-degree relatives of patients with familial mesial temporal lobe epilepsy

scientific article published in December 2002

Mesial temporal lobe abnormalities in a family with 15q26qter trisomy

scientific article published in September 2002

MicroRNA expression profile in epilepsy: breaking molecular barriers

MicroRNA expression profile in murine central nervous system development.

scientific article published on 2 May 2008

MicroRNAs: a new paradigm on molecular urological oncology.

scientific article published on 15 May 2010

Molecular diagnosis of Huntington disease in Brazilian patients

scientific article published in March 2000

Multi-omics analysis suggests enhanced epileptogenesis in the Cornu Ammonis 3 of the pilocarpine model of mesial temporal lobe epilepsy

scientific article published on 10 October 2020

Muscle excitability abnormalities in Machado-Joseph disease

scientific article

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

scientific article

Neocortical atrophy in Machado-Joseph disease: a longitudinal neuroimaging study

scientific article published on 23 June 2011

Neuroanatomical correlates of depression in Friedreich's ataxia: a voxel-based morphometry study.

scientific article

Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado-Joseph Disease.

scientific article published on 19 November 2012

Outcome of surgical treatment in familial mesial temporal lobe epilepsy

scientific article published in August 2003

Patterns of hippocampal abnormalities in malformations of cortical development

scientific article

Pharmacogenetics: reality or fiction? Or are we there yet?

scientific article published on 01 April 2011

Phosphoinositide-specific inositol polyphosphate 5-phosphatase IV inhibits inositide trisphosphate accumulation in hypothalamus and regulates food intake and body weight

scientific article published on 17 August 2006

Progression of ataxia in patients with Machado-Joseph disease

scientific article published in July 2009

Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum.

scientific article

Prospective study of peripheral neuropathy in Machado-Joseph disease

RNAi-mediated gene silencing as a principle of action of venoms and poisons

article

Relationship between environmental factors and gray matter atrophy in refractory MTLE.

scientific article published in March 2010

Repeated neural tube defects and valproate monotherapy suggest a pharmacogenetic abnormality

scientific article published in June 2001

Schistosoma mansoni: evaluation of an RNAi-based treatment targeting HGPRTase gene.

scientific article

Segregation analysis in mesial temporal lobe epilepsy with hippocampal atrophy

scientific article published in February 2010

Seizure frequency during pregnancy and the puerperium

scientific article published on 29 December 2004

Shp2 negatively regulates growth in cardiomyocytes by controlling focal adhesion kinase/Src and mTOR pathways

scientific journal article

Sleep symptoms and their clinical correlates in Machado-Joseph disease

scientific article published on 3 September 2008

Spinal cord atrophy correlates with disability in Friedreich's ataxia

scientific article published in February 2013

Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family

scientific article

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.

scientific article

Structural abnormalities of the thalamus in juvenile myoclonic epilepsy

scientific article published on 23 June 2011

THE SCN2A gene is not a likely candidate for familial mesial temporal lobe epilepsy

scientific article published on 17 August 2006

Targeting Focal Adhesion Kinase With Small Interfering RNA Prevents and Reverses Load-Induced Cardiac Hypertrophy in Mice

scientific article published on 18 October 2007

Thalamic volume and dystonia in Machado-Joseph disease

scientific article published in April 2011

The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations

scientific article published on 02 October 2020

The Machado-Joseph disease-associated expanded form of ataxin-3: Overexpression, purification, and preliminary biophysical and structural characterization

scientific article published on 20 July 2018

The clinical spectrum of malformations of cortical development

scientific article published in June 2007

The genetic architecture of the human cerebral cortex

The genetic architecture of the human cerebral cortex

scientific article

The genetics of epilepsies.

scientific article published on August 2008

The international cooperative ataxia rating scale in Machado-Joseph disease. Comparison with the unified multiple system atrophy rating scale

scientific article published in October 2007

The natural history of degenerative ataxia: a retrospective study in 466 patients

scientific article published in April 1998

Transcriptome of the Wistar audiogenic rat (WAR) strain following audiogenic seizures

scientific article published on 29 August 2018

Voxel-based morphometry in patients with idiopathic generalized epilepsies

scientific article published on 15 May 2006

White and grey matter abnormalities in patients with SPG11 mutations

scientific article published on 13 June 2012

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