Works matching AU Rosa, Alberto L.

Results: 10

Brisk deep-tendon reflexes as a distinctive phenotype in an argentinean spinocerebellar ataxia type 2 pedigree.

Published in:

Movement Disorders, 2006, v. 21, n. 1, p. 66, doi. 10.1002/mds.20636

By:

Rosa, Alberto L.;
Molina, Irma;
Kowaljow, Valeria;
Conde, Cecilia B.

Publication type:

Article

Identification of copy‐number variants in patients with overgrowth disorders.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 614, doi. 10.1111/cge.14596

By:

Parra, Alejandro;
Tenorio‐Castano, Jair;
Nevado, Julián;
Cazalla, Mario;
Miranda‐Alcaraz, Lucía;
Gallego‐Zazo, Natalia;
Silván, Cristina;
Arias, Pedro;
Pozo‐Román, Jesús;
Ballesta‐Martínez, María Juliana;
Guillén‐Navarro, Encarna;
Arroyo, Ignacio;
Lotersztein, Vanesa;
Cosentino, Viviana;
González‐Meneses, Antonio;
Galán, Enrique;
Rosell, Jordi;
Ramos, Feliciano;
Plasencia, Antonio;
Rosa, Alberto L.

Publication type:

Article

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 140, doi. 10.1111/cge.14440

By:

Parra, Alejandro;
Pascual, Patricia;
Cazalla, Mario;
Arias, Pedro;
Gallego‐Zazo, Natalia;
San‐Martín, Esteban A.;
Silván, Cristina;
Santos‐Simarro, Fernando;
Plasencia, Antonio;
Rosa, Alberto L.;
Blanquer, Aleixandre;
Garcı'a‐Alix, Alfredo;
Santana, Alfredo;
Delicado, Alicia;
Alonso, Almudena;
Rodriguez, Amaya;
Sanchis, Amparo;
Moreno, Ana;
Gar‐cía, Ana Patiño;
Vega, Ana

Publication type:

Article

The DUX4 protein is a co‐repressor of the progesterone and glucocorticoid nuclear receptors.

Published in:

FEBS Letters, 2022, v. 596, n. 20, p. 2644, doi. 10.1002/1873-3468.14416

By:

Quintero, Julieta;
Saad, Nizar Y.;
Pagnoni, Sabrina M.;
Jacquelin, Daniela K.;
Gatica, Laura V.;
Harper, Scott Q.;
Rosa, Alberto L.

Publication type:

Article

Isolation and Identification of the Indigenous Yeast Population during Spontaneous Fermentation of Isabella (Vitis labrusca L.) Grape Must.

Published in:

Frontiers in Microbiology, 2017, v. 8, p. 1, doi. 10.3389/fmicb.2017.00532

By:

Eder, María L. Raymond;
Reynoso, Cristina;
Lauret, Santiago C.;
Rosa, Alberto L.

Publication type:

Article

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

Published in:

Human Genetics, 2009, v. 125, n. 1, p. 29, doi. 10.1007/s00439-008-0598-1

By:

Alías, Laura;
Bernal, Sara;
Fuentes-Prior, Pablo;
Barceló, María Jesus;
Also, Eva;
Martínez-Hernández, Rebeca;
Rodríguez-Alvarez, Francisco J.;
Martín, Yolanda;
Aller, Elena;
Grau, Elena;
Peciña, Ana;
Antiñolo, Guillermo;
Galán, Enrique;
Rosa, Alberto L.;
Fernández-Burriel, Miguel;
Borrego, Salud;
Millán, José M.;
Hernández-Chico, Concepción;
Baiget, Montserrat;
Tizzano, Eduardo F.

Publication type:

Article

A dominant negative effect of eth-1r, a mutant allele of the Neurospora crassa...

Published in:

Genetics, 1996, v. 144, n. 4, p. 1455, doi. 10.1093/genetics/144.4.1455

By:

Barra, Jose L.;
Mautino, Mario R.;
Rosa, Alberto L.

Publication type:

Article

Molecular Cloning of a Gene (cfp) Encoding the Cytoplasmic Filament Protein P59Nc and Its Genetic Relationship to the snowflake Locus of Neurospora crassa.

Published in:

Genetics, 1992, v. 131, n. 3, p. 575

By:

Haedo, Sergio D.;
Temporini, Esteban D.;
Alvarez, María E.;
Maccioni, Hugo J. F.;
Rosa, Alberto L.

Publication type:

Article

Differences Between Indigenous Yeast Populations in Spontaneously Fermenting Musts From <italic>V. vinifera</italic> L. and <italic>V. labrusca</italic> L. Grapes Harvested in the Same Geographic Location.

Published in:

Frontiers in Microbiology, 2018, p. N.PAG, doi. 10.3389/fmicb.2018.01320

By:

Raymond Eder, María L.;
Conti, Francisco;
Rosa, Alberto L.

Publication type:

Article

Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report.

Published in:

2023

By:

Duggirala, Niharika;
Ngo, Kathie J.;
Pagnoni, Sabrina M.;
Rosa, Alberto L.;
Fogel, Brent L.

Publication type:

Case Study