Jose Laffita

Publikationer
Populärvetenskap och samverkan

Artiklar

Article: PARKINSONISM & RELATED DISORDERS. 2018;:S1353-8020(18)30399-7
WITHDRAWN: Novel Xp21.1 deletion associated with unusual features in a large McLeod syndrome kindred.
Sveinsson O; Udd B; Svenningsson P; Gassner C; Engström C; Laffita-Mesa JM; Solders G; Hertegård S; Savitcheva I; Jung HH; Tolnay M; Frey BM; Paucar M
Article: CEREBELLUM. 2018;17(4):465-476
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19
Paucar M; Bergendal A; Gustavsson P; Nordenskjold M; Laffita-Mesa J; Savitcheva I; Svenningsson P
Article: JOURNAL OF PARKINSONS DISEASE. 2017;7(4):619-628
Correlations Between Methionine Cycle Metabolism, COMT Genotype, and Polyneuropathy in L-Dopa Treated Parkinson's Disease: A Preliminary Cross-Sectional Study
Andreasson M; Brodin L; Laffita-Mesa JM; Svenningsson P
Article: ARCHIVES OF MEDICAL RESEARCH. 2017;48(3):297-302
Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2.
Cuello-Almarales DA; Almaguer-Mederos LE; Vázquez-Mojena Y; Almaguer-Gotay D; Zayas-Feria P; Laffita-Mesa JM; González-Zaldívar Y; Aguilera-Rodríguez R; Rodríguez-Estupiñán A; Velázquez-Pérez L
Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017;372:324-328
Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2.
Almaguer-Mederos LE; Almaguer-Gotay D; Aguilera-Rodríguez R; González-Zaldívar Y; Cuello-Almarales D; Laffita-Mesa J; Vázquez-Mojena Y; Zayas-Feria P; Rodríguez-Labrada R; Velázquez-Pérez L; MacLeod P
Article: JOURNAL OF COMMUNITY GENETICS. 2015;6(3):265-273
SCA2 predictive testing in Cuba: challenging concepts and protocol evolution.
Cruz-Mariño T; Vázquez-Mojena Y; Velázquez-Pérez L; González-Zaldívar Y; Aguilera-Rodríguez R; Velázquez-Santos M; Estupiñán-Rodríguez A; Laffita-Mesa JM; Almaguer-Mederos LE; Paneque M
Article: CEREBELLUM AND ATAXIAS. 2015;2:1
Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease.
González-Zaldívar Y; Vázquez-Mojena Y; Laffita-Mesa JM; Almaguer-Mederos LE; Rodríguez-Labrada R; Sánchez-Cruz G; Aguilera-Rodríguez R; Cruz-Mariño T; Canales-Ochoa N; MacLeod P; Velázquez-Pérez L
Article: BRAIN AND COGNITION. 2014;91:28-34
Executive deficit in spinocerebellar ataxia type 2 is related to expanded CAG repeats: evidence from antisaccadic eye movements.
Rodríguez-Labrada R; Velázquez-Pérez L; Aguilera-Rodríguez R; Seifried-Oberschmidt C; Peña-Acosta A; Canales-Ochoa N; Medrano-Montero J; Estupiñan-Rodríguez A; Vázquez-Mojena Y; González-Zaldivar Y; Laffita Mesa JM
Article: CEREBELLUM. 2014;13(5):568-579
Comprehensive study of early features in spinocerebellar ataxia 2: delineating the prodromal stage of the disease.
Velázquez-Pérez L; Rodríguez-Labrada R; Cruz-Rivas EM; Fernández-Ruiz J; Vaca-Palomares I; Lilia-Campins J; Cisneros B; Peña-Acosta A; Vázquez-Mojena Y; Diaz R; Magaña-Aguirre JJ; Cruz-Mariño T; Estupiñán-Rodríguez A; Laffita-Mesa JM; González-Piña R; Canales-Ochoa N; González-Zaldivar Y
Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2014;341(1-2):41-45
Role of glutathione S-transferases in the spinocerebellar ataxia type 2 clinical phenotype.
Almaguer-Gotay D; Almaguer-Mederos LE; Aguilera-Rodríguez R; Estupiñán-Rodríguez A; González-Zaldivar Y; Cuello-Almarales D; Laffita-Mesa JM; Vázquez-Mojena Y
Article: LANCET NEUROLOGY. 2014;13(5):482-489
Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study.
Velázquez-Pérez L; Rodríguez-Labrada R; Canales-Ochoa N; Montero JM; Sánchez-Cruz G; Aguilera-Rodríguez R; Almaguer-Mederos LE; Laffita-Mesa JM
Article: JOURNAL OF GENETIC COUNSELING. 2014;23(1):89-96
Large normal and intermediate alleles in the context of SCA2 prenatal diagnosis.
Cruz-Mariño T; Laffita-Mesa JM; Gonzalez-Zaldivar Y; Velazquez-Santos M; Aguilera-Rodriguez R; Estupinan-Rodriguez A; Vazquez-Mojena Y; Macleod P; Paneque M; Velazquez-Perez L
Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2013;335(1-2):101-104
Genetic features of Huntington disease in Cuban population: implications for phenotype, epidemiology and predictive testing.
Vázquez-Mojena Y; Laguna-Salvia L; Laffita-Mesa JM; González-Zaldívar Y; Almaguer-Mederos LE; Rodríguez-Labrada R; Almaguer-Gotay D; Zayas-Feria P; Velázquez-Pérez L
Article: JOURNAL OF COMMUNITY GENETICS. 2013;4(4):451-460
Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience.
Cruz-Mariño T; Velázquez-Pérez L; González-Zaldivar Y; Aguilera-Rodríguez R; Velázquez-Santos M; Vázquez-Mojena Y; Estupiñán-Rodríguez A; Reynaldo-Armiñán R; Almaguer-Mederos LE; Laffita-Mesa JM; Tamayo-Chiang V; Paneque M
Article: CLINICAL GENETICS. 2013;83(6):518-524
The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from.
Cruz-Mariño T; Velázquez-Pérez L; González-Zaldivar Y; Aguilera-Rodríguez R; Velázquez-Santos M; Vázquez-Mojena Y; Estupiñán-Rodríguez A; Laffita-Mesa JM; Reynaldo-Armiñán R; Almaguer-Mederos LE; Paneque M
Article: PLOS ONE. 2013;8(8):e70560
De Novo Mutations in Ataxin-2 Gene and ALS Risk
Miguel Laffita-Mesa J; Rodriguez Pupo JM; Moreno Sera R; Vazquez Mojena Y; Kouri V; Laguna-Salvia L; Martinez-Godales M; Valdevila Figueira JA; Bauer PO; Rodriguez-Labrada R; Gonzalez Zaldivar Y; Paucar M; Svenningsson P; Velazquez Perez L
Article: HUMAN GENETICS. 2012;131(4):625-638
Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications.
Laffita-Mesa JM; Bauer PO; Kourí V; Peña Serrano L; Roskams J; Almaguer Gotay D; Montes Brown JC; Martínez Rodríguez PA; González-Zaldívar Y; Almaguer Mederos L; Cuello-Almarales D; Aguiar Santiago J
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2012;20(1):41-49
Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.
Laffita-Mesa JM; Velázquez-Pérez LC; Santos Falcón N; Cruz-Mariño T; González Zaldívar Y; Vázquez Mojena Y; Almaguer-Gotay D; Almaguer Mederos LE; Rodríguez Labrada R
Article: NEUROCHEMICAL RESEARCH. 2011;36(10):1793-1800
Oral zinc sulphate supplementation for six months in SCA2 patients: a randomized, double-blind, placebo-controlled trial.
Velázquez-Pérez L; Rodríguez-Chanfrau J; García-Rodríguez JC; Sánchez-Cruz G; Aguilera-Rodríguez R; Rodríguez-Labrada R; Rodríguez-Díaz JC; Canales-Ochoa N; Gotay DA; Almaguer Mederos LE; Laffita Mesa JM; Porto-Verdecia M; Triana CG; Pupo NR; Batista IH; López-Hernandez OD; Polanco ID; Novas AJ
Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2011;306(1-2):103-107
Saccadic latency is prolonged in Spinocerebellar Ataxia type 2 and correlates with the frontal-executive dysfunctions.
Rodríguez-Labrada R; Velázquez-Pérez L; Seigfried C; Canales-Ochoa N; Auburger G; Medrano-Montero J; Sánchez-Cruz G; Aguilera-Rodríguez R; Laffita-Mesa J; Vázquez-Mojena Y; Verdecia-Ramirez M; Motta M; Quevedo-Batista Y
Article: JOURNAL OF GENETIC COUNSELING. 2011;20(3):241-248
Ethical dilemmas in genetic testing: examples from the Cuban program for predictive diagnosis of hereditary ataxias.
Mariño TC; Armiñán RR; Cedeño HJ; Mesa JML; Zaldivar YG; Rodríguez RA; Santos MV; Mederos LEA; Herrera MP; Pérez LV
Article: MOVEMENT DISORDERS. 2011;26(2):347-350
Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers.
Rodríguez-Labrada R; Velázquez-Perez L; Ochoa NC; Polo LG; Valencia RH; Cruz GS; Montero JM; Laffita-Mesa JM; Mederos LEA; Zaldívar YG; Parra CT; Acosta AP; Mariño TC
Article: NEURODEGENERATIVE DISEASES. 2011;8(6):447-454
Sleep disorders in spinocerebellar ataxia type 2 patients.
Velázquez-Pérez L; Voss U; Rodríguez-Labrada R; Auburger G; Canales Ochoa N; Sánchez Cruz G; Galicia Polo L; Haro Valencia R; Aguilera Rodríguez R; Medrano Montero J; Laffita Mesa JM; Tuin I
Article: CLINICAL GENETICS. 2010;78(2):169-174
Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis.
Almaguer-Mederos LE; Falcón NS; Almira YR; Zaldivar YG; Almarales DC; Góngora EM; Herrera MP; Batallán KE; Armiñán RR; Manresa MV; Cruz GS; Laffita-Mesa J; Cyuz TM; Chang V; Auburger G; Gispert S; Pérez LV
Article: NEUROSCIENCE LETTERS. 2010;472(2):85-89
Uncommon features in Cuban families affected with Friedreich ataxia.
Cruz-Mariño T; González-Zaldivar Y; Laffita-Mesa JM; Almaguer-Mederos L; Aguilera-Rodríguez R; Almaguer-Gotay D; Rodríguez-Labrada R; Canales-Ochoa N; Macleod P; Velázquez-Pérez L
Article: NEUROSCIENCE LETTERS. 2009;454(2):157-160
Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin.
Velázquez Pérez L; Cruz GS; Santos Falcón N; Enrique Almaguer Mederos L; Escalona Batallan K; Rodríguez Labrada R; Paneque Herrera M; Laffita Mesa JM; Rodríguez Díaz JC; Rodríguez RA; González Zaldivar Y; Coello Almarales D; Almaguer Gotay D; Jorge Cedeño H
Article: CLINICAL NEUROPHYSIOLOGY. 2009;120(3):632-635
Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2.
Velázquez-Pérez L; Seifried C; Abele M; Wirjatijasa F; Rodríguez-Labrada R; Santos-Falcón N; Sánchez-Cruz G; Almaguer-Mederos L; Tejeda R; Canales-Ochoa N; Fetter M; Ziemann U; Klockgether T; Medrano-Montero J; Rodríguez-Díaz J; Laffita-Mesa JM; Auburger G
Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2007;263(1-2):158-164
Electrophysiological features in patients and presymptomatic relatives with spinocerebellar ataxia type 2.
Velázquez Pérez L; Sánchez Cruz G; Canales Ochoa N; Rodríguez Labrada R; Rodríguez Díaz J; Almaguer Mederos L; Laffita Mesa J
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:469
A complex chromosome 21 rearrangement causes APP triplication and autosomal dominant early onset Alzheimer disease
Ehn E; Eisfeldt J; Thonberg H; Laffita J; Schoumans J; Remes A; Viitanen M; Lindstrand A; Nennesemo I; Graff C
Editorial comment: NEUROLOGY. 2018;91(15):710-712
Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations
Paucar M; Pajak A; Freyer C; Bergendal A; Dory M; Laffita-Mesa JM; Stranneheim H; Lagerstedt-Robinson K; Savitcheva I; Walker RH; Wedell A; Wredenberg A; Svenningsson P
Review: MOVEMENT DISORDERS. 2017;32(5):708-718
Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges.
Velázquez-Pérez L; Rodríguez-Labrada R; Laffita-Mesa JM
Review: MEDICINA CLINICA. 2014;143(8):360-365
[Epigenetic heredity (deoxyribonucleic acid methylation): Clinical context in neurodegenerative disorders and ATXN2 gene].
Laffita-Mesa JM; Bauer P
Letter: CLINICAL GENETICS. 2014;86(1):96-98
Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature.
Laffita-Mesa JM; Almaguer-Mederos LE; Kourí V; Bauer PO; Vázquez-Mojena Y; Cruz Mariño T; Velázquez-Pérez L
Letter: CLINICAL GENETICS. 2013;83(3):293-294
Estimation of survival in spinocerebellar ataxia type 2 Cuban patients.
Almaguer-Mederos LE; Aguilera Rodríguez R; González Zaldivar Y; Almaguer Gotay D; Cuello Almarales D; Laffita Mesa J; Vázquez Mojena Y; Zayas Feria P; Auburger G; Gispert S; Velásquez Pérez L
Review: CEREBELLUM. 2011;10(2):184-198
A comprehensive review of spinocerebellar ataxia type 2 in Cuba.
Velázquez-Pérez L; Rodríguez-Labrada R; García-Rodríguez JC; Almaguer-Mederos LE; Cruz-Mariño T; Laffita-Mesa JM
Letter: CLINICAL GENETICS. 2010;77(6):598-600
Low predisposition to instability of the Friedreich ataxia gene in Cuban population.
Mariño TC; Zaldivar YG; Mesa JML; Mederos LA; Rodríguez RA; Gotay DA; Labrada RR; Ochoa NC; Macleod P; Pérez LV

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