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

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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

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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 Laffita-Mesa, José Miguel, Velázquez-Pérez, Luis C, Santos Falcón, Nieves, Cruz-Mariño, Tania, González Zaldívar, Yanetza, Vázquez Mojena, Yaimee, Almaguer-Gotay, Dennis, Almaguer Mederos, Luis Enrique, Rodríguez Labrada, Roberto

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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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De Novo Mutations in Ataxin-2 Gene and ALS Risk. e70560 by Laffita-Mesa, Jose Miguel, Pupo, Jorge MichelRodriguez, Sera, Raciel Moreno, Mojena, Yaimee Vazquez, Kouri, Vivian, Laguna-Salvia, Leonides, Martinez-Godales, Michael, Figueira, Jose AValdevila, Bauer, Peter O, Rodriguez-Labrada, Roberto

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WITHDRAWN: Novel Xp21.1 deletion associated with unusual features in a large McLeod syndrome kindred by Sveinsson, Olafur, Udd, Bjarne, Svenningsson, Per, Gassner, Christoph, Engström, Charlotte, Laffita-Mesa, José Miguel, Solders, Göran, Hertegård, Stellan, Savitcheva, Irina, Jung, Hans H, Tolnay, Markus, Frey, Beat M, Paucar, Martin

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Potential Modifying Effect of the APOEε4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer’s Disease with and without a Pathogenic Variant i... by Valdez-Gaxiola, César A., Maciel-Cruz, Eric Jonathan, Hernández-Peña, Rubiceli, Dumois-Petersen, Sofía, Rosales-Leycegui, Frida, Gallegos-Arreola, Martha Patricia, Moreno-Ortiz, José Miguel, Figuera, Luis E.

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Potential Modifying Effect of the IAPOEε4/I Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer’s Disease with and without a Pathogenic Varian... by Valdez-Gaxiola, César A, Maciel-Cruz, Eric Jonathan, Hernández-Peña, Rubiceli, Dumois-Petersen, Sofía, Rosales-Leycegui, Frida, Gallegos-Arreola, Martha Patricia, Moreno-O, Figuera, Luis E

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Altered plasma protein profiles in genetic FTD – a GENFI study by Ullgren, Abbe, Öijerstedt, Linn, Olofsson, Jennie, Remnestål, Julia, van Swieten, John C., Jiskoot, Lize C., Seelaar, Harro, Borroni, Barbara, Moreno, Fermin, Peakman, Georgia, Pievani, Michela, Pijnenburg, Yolande, Premi, Enrico, Rademakers, Rosa, Redaelli, Veronica, Rinaldi, Daisy, Rittman, Tim, Rollin, Adeline, Rosser, Martin, Semler, Elisa, Shoesmith, Christen, Tábuas-Pereira, Miguel, Tainta, Mikel, Synofzik, Matthis, Taipa, Ricardo, Thomas, David L., Thompson, Paul, Thonberg, Håkan, Timberlake, Carolyn, Todd, Emily, Van Damme, Philip, Veldsman, Michele, Galimberti, Daniela, Verdelho, Ana, Villanua, Jorge, Warren, Jason, Wilke, Carlo, Woollacott, Ione, Zetterberg, Henrik, Lemos, João, Rowe, James B., Finger, Elizabeth, Vandenberghe, Rik, de Mendonça, Alexandre, Tirabosch, Pietro, Ducharme, Simon, Butler, Chris R., Gerhard, Alexander, Otto, Markus, Russell, Lucy, Swift, Imogen J., Rohrer, Jonathan D., Månberg, Anna, Nilsson, Peter, Almeida, Maria Rosario, Anderl-Straub, Sarah, Andersson, Christin, Antonell, Anna, Arighi, Andrea, Balasa, Mircea, Bargalló, Nuria, Bartha, Robart, Buratti, Emanuele, Benussi, Luisa, Binetti, Giuliano, Black, Sandra, Bocchetta, Martina, Borrego-Ecija, Sergi, Bras, Jose, Bruffaerts, Rose, Cañada, Marta, Cantoni, Valentina, Caroppo, Paola, Cash, David, Castelo-Branco, Miguel, Cope, Thomas, Fenoglio, Chiara, da Silva Ferreira, Catarina Beatriz, Fox, Nick, Freedman, Morris, Fumagalli, Giorgio, Funkiewiez, Aurélie, Gabilondo, Alazne, Gauthier, Serge, Alberici, Antonella, Giaccone, Giorgio, Gorostidi, Ana, Greaves, Caroline, Guerreiro, Rita, Indakoetxea, Begoña, Karnath, Hans-Otto, Kuchcinski, Gregory, Langheinrich, Tobias, Lebouvier, Thibaud, Leitão, Maria João, Lladó, Albert, Miltenberger-Miltenyi, Gabriel, Mitchell, Sara, Moore, Katrina, Nicholas, Jennifer

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