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X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson's Disease.
Mov Disord. 2023 Sep;38(9):1625-1635. doi: 10.1002/mds.29508. Epub 2023 Jul 20.
Mov Disord. 2023.
PMID: 37469269
Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients.
Sarihan EI, Pérez-Palma E, Niestroj LM, Loesch D, Inca-Martinez M, Horimoto ARVR, Cornejo-Olivas M, Torres L, Mazzetti P, Cosentino C, Sarapura-Castro E, Rivera-Valdivia A, Dieguez E, Raggio V, Lescano A, Tumas V, Borges V, Ferraz HB, Rieder CR, Schumacher-Schuh AF, Santos-Lobato BL, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Moreno S, Chana-Cuevas P, Fernandez W, Arboleda G, Arboleda H, Arboleda-Bustos CE, Yearout D, Zabetian CP, Thornton TA, O'Connor TD, Lal D, Mata IF; Latin American Research Consortium on the Genetics of Parkinson's Disease (LARGE-PD)‡.
Sarihan EI, et al.
Mov Disord. 2021 Feb;36(2):434-441. doi: 10.1002/mds.28353. Epub 2020 Nov 5.
Mov Disord. 2021.
PMID: 33150996
Free PMC article.
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Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation.
Spangenberg MN, Grille S, Simoes C, Brandes M, Garcia-Luna J, Catalán AI, Ranero S, Boada M, Brugnini A, Trias N, Lens D, Raggio V, Spangenberg L.
Spangenberg MN, et al.
Front Oncol. 2023 Sep 13;13:1248964. doi: 10.3389/fonc.2023.1248964. eCollection 2023.
Front Oncol. 2023.
PMID: 37781189
Free PMC article.
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Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report.
Baltar F, Simoes C, Garagorry F, Graña M, Rodríguez S, Haydée Aunchayna M, Tapié A, Cerisola A, González G, Naya H, Spangenberg L, Raggio V.
Baltar F, et al.
Front Pediatr. 2024 May 1;12:1379254. doi: 10.3389/fped.2024.1379254. eCollection 2024.
Front Pediatr. 2024.
PMID: 38751748
Free PMC article.
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Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms.
Spangenberg MN, Grille S, Simoes C, Dell'Oca N, Boada M, Guillermo C, Raggio V, Spangenberg L.
Spangenberg MN, et al.
Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006237. doi: 10.1101/mcs.a006237. Print 2022 Dec.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 36577524
Free PMC article.
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Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy.
Raggio V, Graña M, Winiarski E, Mansilla S, Simoes C, Rodríguez S, Brandes M, Tapié A, Rodríguez L, Cibils L, Alonso M, Martínez J, Fernández-Calero T, Domínguez F, Mezquida MR, Castro L, Cerisola A, Naya H, Cassina A, Quijano C, Spangenberg L.
Raggio V, et al.
Hum Genomics. 2023 Feb 27;17(1):14. doi: 10.1186/s40246-023-00463-x.
Hum Genomics. 2023.
PMID: 36849973
Free PMC article.
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Fibrodysplasia ossificans progressiva in a 3-year-old female patient.
Moreira C, Dapueto G, Peluffo G, Vomero A, Tapié A, Rodríguez S, Raggio V, Suárez R, Giachetto G, García L.
Moreira C, et al.
Bol Med Hosp Infant Mex. 2023;80(1):69-73. doi: 10.24875/BMHIM.22000039.
Bol Med Hosp Infant Mex. 2023.
PMID: 36867574
Free article.
English.
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X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson Disease.
Leal TP, French-Kwawu JN, Gouveia MH, Borda V, Inca-Martinez M, Mason EA, Horimoto AR, Loesch DP, Sarihan EI, Cornejo-Olivas MR, Torres LE, Mazzetti-Soler PE, Cosentino C, Sarapura-Castro EH, Rivera-Valdivia A, Medina AC, Dieguez EM, Raggio VE, Lescano A, Tumas V, Borges V, Ferraz HB, Rieder CR, Schumacher-Schuh A, Santos-Lobato BL, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Moreno S, Chana-Cuevas P, Fernandez W, Arboleda G, Arboleda H, Arboleda Bustos CE, Yearout D, Lima-Costa MF, Tarazona E, Zabetian C, Thornton TA, O'Connor TD, Mata IF.
Leal TP, et al. Among authors: raggio ve.
medRxiv [Preprint]. 2023 Feb 2:2023.01.31.23285199. doi: 10.1101/2023.01.31.23285199.
medRxiv. 2023.
PMID: 36778409
Free PMC article.
Updated.
Preprint.
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