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Erratum: Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry.
Published in:
2018
By:
- Cornejo-Olivas, Mario;
- Torres, Luis;
- Velit-Salazar, Mario R.;
- Inca-Martinez, Miguel;
- Mazzetti, Pilar;
- Cosentino, Carlos;
- Micheli, Federico;
- Perandones, Claudia;
- Dieguez, Elena;
- Raggio, Victor;
- Tumas, Vitor;
- Borges, Vanderci;
- Ferraz, Henrique B.;
- Rieder, Carlos R. M.;
- Shumacher-Schuh, Artur;
- Velez-Pardo, Carlos;
- Jimenez-Del-Rio, Marlene;
- Lopera, Francisco;
- Chang-Castello, Jorge;
- Andreé-Munoz, Brennie
Publication type:
Correction Notice
Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry.
Published in:
NPJ Parkinson's Disease, 2017, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41531-017-0020-6
By:
- Cornejo-Olivas, Mario;
- Torres, Luis;
- Velit-Salazar, Mario R.;
- Inca-Martinez, Miguel;
- Mazzetti, Pilar;
- Cosentino, Carlos;
- Micheli, Federico;
- Perandones, Claudia;
- Dieguez, Elena;
- Raggio, Victor;
- Tumas, Vitor;
- Borges, Vanderci;
- Ferraz, Henrique B.;
- Rieder, Carlos R. M.;
- Shumacher-Schuh, Artur;
- Velez-Pardo, Carlos;
- Jimenez-Del-Rio, Marlene;
- Lopera, Francisco;
- Chang-Castello, Jorge;
- Andreé-Munoz, Brennie
Publication type:
Article
Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1622
By:
- Spangenberg, Lucía;
- Guecaimburú, Rosario;
- Tapié, Alejandra;
- Vivas, Susana;
- Rodríguez, Soledad;
- Graña, Martín;
- Naya, Hugo;
- Raggio, Víctor
Publication type:
Article
Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation.
Published in:
Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1248964
By:
- Noel Spangenberg, María;
- Grille, Sofía;
- Simoes, Camila;
- Brandes, Mariana;
- Garcia-Luna, Joaquín;
- Inés Catalán, Ana;
- Ranero, Sabrina;
- Boada, Matilde;
- Brugnini, Andreína;
- Trias, Natalia;
- Lens, Daniela;
- Raggio, Víctor;
- Spangenberg, Lucía
Publication type:
Article
CBG Montevideo: A Clinically Novel SERPINA6 Mutation Leading to Haploinsufficiency of Corticosteroid-binding Globulin.
Published in:
Journal of the Endocrine Society, 2021, v. 5, n. 9, p. 1, doi. 10.1210/jendso/bvab115
By:
- Meyer, Emily Jane;
- Spangenberg, Lucía;
- Ramírez, Maria José;
- Sousa, Sunita Maria Christina De;
- Raggio, Victor;
- Torpy, David James
Publication type:
Article
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
Published in:
Human Genetics, 2013, v. 132, n. 7, p. 761, doi. 10.1007/s00439-013-1289-0
By:
- Reis, Linda;
- Tyler, Rebecca;
- Muheisen, Sanaa;
- Raggio, Victor;
- Salviati, Leonardo;
- Han, Dennis;
- Costakos, Deborah;
- Yonath, Hagith;
- Hall, Sarah;
- Power, Patricia;
- Semina, Elena
Publication type:
Article
A novel mutation in the OAR domain of the ARX gene.
Published in:
Clinical Case Reports, 2017, v. 5, n. 2, p. 170, doi. 10.1002/ccr3.769
By:
- Tapie, Alejandra;
- Pi‐Denis, Natalia;
- Souto, Jorge;
- Vomero, Alejandra;
- Peluffo, Gabriel;
- Boidi, María;
- Ciganda, Martín;
- Curbelo, Nicolás;
- Raggio, Victor;
- Roche, Leda;
- Pastro, Lucía
Publication type:
Article
Characterizing the Genetic Architecture of Parkinson's Disease in Latinos.
Published in:
Annals of Neurology, 2021, v. 90, n. 3, p. 353, doi. 10.1002/ana.26153
By:
- Loesch, Douglas P.;
- Horimoto, Andrea R. V. R.;
- Heilbron, Karl;
- Sarihan, Elif I.;
- Inca‐Martinez, Miguel;
- Mason, Emily;
- Cornejo‐Olivas, Mario;
- Torres, Luis;
- Mazzetti, Pilar;
- Cosentino, Carlos;
- Sarapura‐Castro, Elison;
- Rivera‐Valdivia, Andrea;
- Medina, Angel C.;
- Dieguez, Elena;
- Raggio, Victor;
- Lescano, Andres;
- Tumas, Vitor;
- Borges, Vanderci;
- Ferraz, Henrique B.;
- Rieder, Carlos R.
Publication type:
Article
Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy.
Published in:
Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00463-x
By:
- Raggio, Víctor;
- Graña, Martín;
- Winiarski, Erik;
- Mansilla, Santiago;
- Simoes, Camila;
- Rodríguez, Soledad;
- Brandes, Mariana;
- Tapié, Alejandra;
- Rodríguez, Laura;
- Cibils, Lucía;
- Alonso, Martina;
- Martínez, Jennyfer;
- Fernández-Calero, Tamara;
- Domínguez, Fernanda;
- Mezquida, Melania Rosas;
- Castro, Laura;
- Cerisola, Alfredo;
- Naya, Hugo;
- Cassina, Adriana;
- Quijano, Celia
Publication type:
Article
Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.
Published in:
Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00328-1
By:
- Raggio, Víctor;
- Dell'Oca, Nicolas;
- Simoes, Camila;
- Tapié, Alejandra;
- Medici, Conrado;
- Costa, Gonzalo;
- Rodriguez, Soledad;
- Greif, Gonzalo;
- Garrone, Estefania;
- Rovella, María Laura;
- Gonzalez, Virgina;
- Halty, Margarita;
- González, Gabriel;
- Shin, Jong-Yeon;
- Shin, Sang-Yoon;
- Kim, Changhoon;
- Seo, Jeong-Sun;
- Graña, Martin;
- Naya, Hugo;
- Spangenberg, Lucia
Publication type:
Article
Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report.
Published in:
Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1379254
By:
- Baltar, Federico;
- Simoes, Camila;
- Garagorry, Francisco;
- Graña, Martín;
- Rodríguez, Soledad;
- Haydée Aunchayna, María;
- Tapié, Alejandra;
- Cerisola, Alfredo;
- González, Gabriel;
- Naya, Hugo;
- Spangenberg, Lucía;
- Raggio, Víctor
Publication type:
Article
Parkinson's Disease Gene Screening in Familial Cases from Central and South America.
Published in:
Movement Disorders, 2024, v. 39, n. 10, p. 1843, doi. 10.1002/mds.29931
By:
- Lorenzo‐Betancor, Oswaldo;
- Mehta, Seysha;
- Ramchandra, Janvi;
- Mumuney, Sekinat;
- Schumacher‐Schuh, Artur F.;
- Cornejo‐Olivas, Mario;
- Sarapura‐Castro, Elison H.;
- Torres, Luis;
- Inca‐Martinez, Miguel A.;
- Mazzetti, Pilar;
- Cosentino, Carlos;
- Micheli, Federico;
- Tumas, Vitor;
- Dieguez, Elena;
- Raggio, Victor;
- Borges, Vanderci;
- Ferraz, Henrique B.;
- Chana‐Cuevas, Pedro;
- Jimenez‐Del‐Rio, Marlene;
- Velez‐Pardo, Carlos
Publication type:
Article
X‐Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson's Disease.
Published in:
Movement Disorders, 2023, v. 38, n. 9, p. 1625, doi. 10.1002/mds.29508
By:
- Leal, Thiago P.;
- Rao, Shilpa C.;
- French‐Kwawu, Jennifer N.;
- Gouveia, Mateus H.;
- Borda, Victor;
- Bandres‐Ciga, Sara;
- Inca‐Martinez, Miguel;
- Mason, Emily A.;
- Horimoto, Andrea R.V.R.;
- Loesch, Douglas P.;
- Sarihan, Elif I.;
- Cornejo‐Olivas, Mario R.;
- Torres, Luis E.;
- Mazzetti‐Soler, Pilar E.;
- Cosentino, Carlos;
- Sarapura‐Castro, Elison H.;
- Rivera‐Valdivia, Andrea;
- Medina, Angel C.;
- Dieguez, Elena M.;
- Raggio, Víctor E.
Publication type:
Article
Genome‐Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients.
Published in:
Movement Disorders, 2021, v. 36, n. 2, p. 434, doi. 10.1002/mds.28353
By:
- Sarihan, Elif Irem;
- Pérez‐Palma, Eduardo;
- Niestroj, Lisa‐Marie;
- Loesch, Douglas;
- Inca‐Martinez, Miguel;
- Horimoto, Andrea R.V.R.;
- Cornejo‐Olivas, Mario;
- Torres, Luis;
- Mazzetti, Pilar;
- Cosentino, Carlos;
- Sarapura‐Castro, Elison;
- Rivera‐Valdivia, Andrea;
- Dieguez, Elena;
- Raggio, Victor;
- Lescano, Andres;
- Tumas, Vitor;
- Borges, Vanderci;
- Ferraz, Henrique B.;
- Rieder, Carlos R.;
- Schumacher‐Schuh, Artur F.
Publication type:
Article
Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia.
Published in:
Diagnostics (2075-4418), 2024, v. 14, n. 3, p. 313, doi. 10.3390/diagnostics14030313
By:
- Raggio, Víctor;
- Rodríguez, Soledad;
- Feder, Sandra;
- Gueçaimburú, Rosario;
- Spangenberg, Lucía
Publication type:
Article
Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006237
By:
- Spangenberg, María Noel;
- Grille, Sofia;
- Simoes, Camila;
- Dell'Oca, Nicolás;
- Boada, Matilde;
- Guillermo, Cecilia;
- Raggio, Victor;
- Spangenberg, Lucía
Publication type:
Article
Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.
Published in:
2022
By:
- Simoes, Camila;
- Graña, Martín;
- Rodriguez, Soledad;
- Baltar Yanes, Federico;
- Tapié, Alejandra;
- Dell'Oca, Nicolás;
- Naya, Hugo;
- Raggio, Víctor;
- Spangenberg, Lucía
Publication type:
journal article

Found: 17