Search Results - "Laffita‐Mesa, José Miguel"

Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications by Laffita-Mesa, José Miguel, Bauer, Peter O., Kourí, Vivian, Peña Serrano, Leodani, Roskams, Jane, Almaguer Gotay, Dennis, Montes Brown, Julio Cesar, Martínez Rodríguez, Pedro Ariel, González-Zaldívar, Yanetza, Almaguer Mederos, Luís, Cuello-Almarales, Dany, Aguiar Santiago, Jorge

“…Pathogenic CAG (cytosine-adenine-guanine) expansions beyond certain thresholds in the ataxin-2 (ATXN2) gene cause spinocerebellar ataxia type 2 (SCA2) and were…”
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Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia by Natarajan, Karthick, Eisfeldt, Jesper, Hammond, Maria, Laffita-Mesa, José Miguel, Patra, Kalicharan, Khoshnood, Behzad, Öijerstedt, Linn, Graff, Caroline

“…We identified an autosomal dominant progranulin mutation carrier without symptoms of dementia in her lifetime (Reduced Penetrance Mutation Carrier, RedPenMC)…”
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Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin by Velázquez Pérez, Luis, Cruz, Gilberto Sánchez, Santos Falcón, Nieves, Enrique Almaguer Mederos, Luis, Escalona Batallan, Karel, Rodríguez Labrada, Roberto, Paneque Herrera, Milena, Laffita Mesa, José Miguel, Rodríguez Díaz, Julio C., Rodríguez, Raúl Aguilera, González Zaldivar, Yanetza, Coello Almarales, Dany, Almaguer Gotay, Dennis, Jorge Cedeño, Humberto

“…The objective of this study was to determine the prevalence of hereditary ataxias in Cuba, with a special focus on the clinical and molecular features of SCA2…”
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Correlations Between Methionine Cycle Metabolism, COMT Genotype, and Polyneuropathy in L-Dopa Treated Parkinson's Disease: A Preliminary Cross-Sectional Study by Andréasson, Mattias, Brodin, Lovisa, Laffita-Mesa, José Miguel, Svenningsson, Per

“…Polyneuropathy (pnp) is recognized as a clinical feature of Parkinson's disease (PD). Whether pnp is a result of the alpha-synucleinopathy or related to…”
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A Comprehensive Review of Spinocerebellar Ataxia Type 2 in Cuba by Velázquez-Pérez, Luis, Rodríguez-Labrada, Roberto, García-Rodríguez, Julio Cesar, Almaguer-Mederos, Luis Enrique, Cruz-Mariño, Tania, Laffita-Mesa, José Miguel

“…Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia characterized by a progressive cerebellar syndrome associated to saccadic…”
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Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles by MIGUEL LAFFITA-MESA, José, VELAZQUEZ-PEREZ, Luis C, SANTOS FALCON, Nieves, CRUZ-MARINO, Tania, GONZALEZ ZALDIVAR, Yanetza, VAZQUEZ MOJENA, Yaimee, ALMAGUER-GOTAY, Dennis, ALMAGUER MEDEROS, Luis Enrique, RODRIGUEZ LABRADA, Roberto

“…The role of short, large or intermediate normal alleles (ANs) of the ataxin-2 gene in generating expanded alleles (EAs) causing spinocerebellar ataxia type 2…”
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A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72‐ALS by Laffita‐Mesa, Jose Miguel, Nennesmo, Inger, Paucar, Martin, Svenningsson, Per

“…Background The ataxin‐2 (ATXN2) gene contains a cytosine‐adenine‐guanine repeat sequence ranging from 13 to 31 repeats, but when surpassing certain thresholds…”
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Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations by Paucar, Martin, Pajak, Aleksandra, Freyer, Christoph, Bergendal, Åsa, Döry, Margit, Laffita-Mesa, José Miguel, Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Savitcheva, Irina, Walker, Ruth H, Wedell, Anna, Wredenberg, Anna, Svenningsson, Per

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Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges by Velázquez‐Pérez, Luis, Rodríguez‐Labrada, Roberto, Laffita‐Mesa, José Miguel

“…ABSTRACT The characterization of prodromal stages in neurodegenerative disorders is becoming increasingly important because of the need for early…”
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De novo mutations in ataxin-2 gene and ALS risk by Laffita-Mesa, José Miguel, Rodríguez Pupo, Jorge Michel, Moreno Sera, Raciel, Vázquez Mojena, Yaimee, Kourí, Vivian, Laguna-Salvia, Leonides, Martínez-Godales, Michael, Valdevila Figueira, José A, Bauer, Peter O, Rodríguez-Labrada, Roberto, González Zaldívar, Yanetza, Paucar, Martin, Svenningsson, Per, Velázquez Pérez, Luís

“…Pathogenic CAG repeat expansion in the ataxin-2 gene (ATXN2) is the genetic cause of spinocerebellar ataxia type 2 (SCA2). Recently, it has been associated…”
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Ethical Dilemmas in Genetic Testing: Examples from the Cuban Program for Predictive Diagnosis of Hereditary Ataxias by Mariño, Tania Cruz, Armiñán, Rubén Reynaldo, Cedeño, Humberto Jorge, Mesa, José Miguel Laffita, Zaldivar, Yanetza González, Rodríguez, Raúl Aguilera, Santos, Miguel Velázquez, Mederos, Luis Enrique Almaguer, Herrera, Milena Paneque, Pérez, Luis Velázquez

“…Predictive testing protocols are intended to help patients affected with hereditary conditions understand their condition and make informed reproductive…”
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Ataxin-2 gene: a powerful modulator of neurological disorders by Laffita-Mesa, Jose Miguel, Paucar, Martin, Svenningsson, Per

“…To provide an update on the role of Ataxin-2 gene (ATXN2) in health and neurological diseases. There is a growing complexity emerging on the role of ATXN2 and…”
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Large Normal and Intermediate Alleles in the Context of SCA2 Prenatal Diagnosis by Cruz-Mariño, Tania, Laffita-Mesa, Jose Miguel, Gonzalez-Zaldivar, Yanetza, Velazquez-Santos, Miguel, Aguilera-Rodriguez, Raul, Estupinan-Rodriguez, Annelie, Vazquez-Mojena, Yaime, Macleod, Patrick, Paneque, Milena, Velazquez-Perez, Luis

“…In 2001 a program for predictive testing of Spinocerebellar Ataxia type 2 was developed in Cuba, based on the detection of an abnormal CAG trinucleotide repeat…”
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GENES MODIFICADORES EN ENFERMEDADES POLIGLUTAMÍNICAS by Almaguer Mederos, Luis Enrique, González Zaldivar, Yanetza, Almaguer Gotay, Dennis, Laffita Mesa, José Miguel, Coello Almarales, Dany

“…Las enfermedades poliglutamínicas constituyen un grupo creciente de enfermedades neurodegenerativas humanas, causadas por la expansión de secuencias…”
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Epigenetic heredity (deoxyribonucleic acid methylation): Clinical context in neurodegenerative disorders and ATXN2 gene by Laffita-Mesa, José Miguel, Bauer, Peter

“…Epigenetics is the group of changes in the phenotype which are related with the process independently of the primary DNA sequence. These changes are intimately…”
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Are ATXN2 variants modifying our understanding about neural pathogenesis, phenotypes, and diagnostic? by Laffita-Mesa, Jose, Paucar, Martin, Svenningsson, Per

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P rodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges by Velázquez‐Pérez, Luis, Rodríguez‐Labrada, Roberto, Laffita‐Mesa, José Miguel

“…ABSTRACT The characterization of prodromal stages in neurodegenerative disorders is becoming increasingly important because of the need for early…”
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SCA2 predictive testing in Cuba: challenging concepts and protocol evolution by Cruz-Mariño, Tania, Vázquez-Mojena, Yaimeé, Velázquez-Pérez, Luis, González-Zaldívar, Yanetza, Aguilera-Rodríguez, Raúl, Velázquez-Santos, Miguel, Estupiñán-Rodríguez, Annelié, Laffita-Mesa, José Miguel, Almaguer-Mederos, Luis E., Paneque, Milena

“…Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by a CAG repeat expansion in the ATXN2 gene. Cuba has the highest prevalence (6.57…”
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Uncommon features in Cuban families affected with Friedreich ataxia by Cruz-Mariño, Tania, González-Zaldivar, Yanetza, Laffita-Mesa, Jose Miguel, Almaguer-Mederos, Luis, Aguilera-Rodríguez, Raul, Almaguer-Gotay, Dennis, Rodríguez-Labrada, Roberto, Canales-Ochoa, Nalia, MacLeod, Patrick, Velázquez-Pérez, Luis

“…This report describes two families who presented with autosomal recessive ataxia. By means of Polymerase Chain Reaction (PCR) molecular testing we identified…”
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Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience by Cruz-Mariño, Tania, Velázquez-Pérez, Luis, González-Zaldivar, Yanetza, Aguilera-Rodríguez, Raúl, Velázquez-Santos, Miguel, Vázquez-Mojena, Yaimé, Estupiñán-Rodríguez, Annelié, Reynaldo-Armiñán, Rubén, Almaguer-Mederos, Luis Enrique, Laffita-Mesa, José Miguel, Tamayo-Chiang, Victor, Paneque, Milena

“…Cuba reports the highest worldwide prevalence of spinocerebellar ataxia type 2 (SCA2) and the greatest number of descendants at risk. A protocol for genetic…”
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