Conversion of adult endothelium to immunocompetent haematopoietic stem cells
Lis, Raphael, Karrasch, Charles C, Poulos, Michael G, Kunar, Balvir, Redmond, David, Duran, Jose G Barcia, Badwe, Chaitanya R, Schachterle, William, Ginsberg, Michael, Xiang, Jenny, Tabrizi, Arash Rafii, Shido, Koji, Rosenwaks, Zev, Elemento, Olivier, Speck, Nancy A, Butler, Jason M, Scandura, Joseph M, Rafii, Shahin
Published in Nature (London) (25.05.2017)
Published in Nature (London) (25.05.2017)
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Journal Article
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients
Mouillé, M, Rio, M, Breton, S, Piketty, M L, Afenjar, A, Amiel, J, Capri, Y, Goldenberg, A, Francannet, C, Michot, C, Mignot, C, Perrin, L, Quelin, C, Van Gils, J, Barcia, G, Pingault, V, Maruani, G, Koumakis, E, Cormier-Daire, V
Published in Orphanet journal of rare diseases (03.03.2022)
Published in Orphanet journal of rare diseases (03.03.2022)
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Journal Article
Anaerobic Removal of Trace Organic Contaminants in Sewage Sludge: 15 Years of Experience
BARRET, M., DELGADILLO-MIRQUEZ, L., TRABLY, E., DELGENES, N., BRAUN, F., CEA-BARCIA, G., STEYER, J.P., PATUREAU, D.
Published in Pedosphere (01.08.2012)
Published in Pedosphere (01.08.2012)
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Journal Article
The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome
Martín, M.Á., García‐Silva, M.T., Barcia, G., Delmiro, A., Rodríguez‐García, M.E., Blázquez, A., Francisco‐Álvarez, R., Martín‐Hernández, E., Quijada‐Fraile, P., Tejada‐Palacios, P., Arenas, J., Santos, C., Martínez‐Azorín, F.
Published in Clinical genetics (01.01.2017)
Published in Clinical genetics (01.01.2017)
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Journal Article
A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency
Barcia, G, Barnerias, C, Rio, M, Siquier-Pernet, K, Desguerre, I, Colleaux, L, Munnich, A, Rotig, A, Nabbout, R
Published in European journal of medical genetics (01.12.2013)
Published in European journal of medical genetics (01.12.2013)
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Journal Article
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
Martin, Hilary C, Kim, Grace E, Pagnamenta, Alistair T, Murakami, Yoshiko, Carvill, Gemma L, Meyer, Esther, Copley, Richard R, Rimmer, Andrew, Barcia, Giulia, Fleming, Matthew R, Kronengold, Jack, Brown, Maile R, Hudspith, Karl A, Broxholme, John, Kanapin, Alexander, Cazier, Jean-Baptiste, Kinoshita, Taroh, Nabbout, Rima, Bentley, David, McVean, Gil, Heavin, Sinéad, Zaiwalla, Zenobia, McShane, Tony, Mefford, Heather C, Shears, Deborah, Stewart, Helen, Kurian, Manju A, Scheffer, Ingrid E, Blair, Edward, Donnelly, Peter, Kaczmarek, Leonard K, Taylor, Jenny C
Published in Human molecular genetics (15.06.2014)
Published in Human molecular genetics (15.06.2014)
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Journal Article
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
Chemin, Jean, Siquier-Pernet, Karine, Nicouleau, Michaël, Barcia, Giulia, Ahmad, Ali, Medina-Cano, Daniel, Hanein, Sylvain, Altin, Nami, Hubert, Laurence, Bole-Feysot, Christine, Fourage, Cécile, Nitschké, Patrick, Thevenon, Julien, Rio, Marlène, Blanc, Pierre, vidal, Céline, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Lyonnet, Stanislas, Boddaert, Nathalie, Fassi, Emily, Shinawi, Marwan, Zimmerman, Holly, Amiel, Jeanne, Faivre, Laurence, Colleaux, Laurence, Lory, Philippe, Cantagrel, Vincent
Published in Brain (London, England : 1878) (01.07.2018)
Published in Brain (London, England : 1878) (01.07.2018)
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Journal Article
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
Ucuncu, Ekin, Rajamani, Karthyayani, Wilson, Miranda S C, Medina-Cano, Daniel, Altin, Nami, David, Pierre, Barcia, Giulia, Lefort, Nathalie, Banal, Céline, Vasilache-Dangles, Marie-Thérèse, Pitelet, Gaële, Lorino, Elsa, Rabasse, Nathalie, Bieth, Eric, Zaki, Maha S, Topcu, Meral, Sonmez, Fatma Mujgan, Musaev, Damir, Stanley, Valentina, Bole-Feysot, Christine, Nitschké, Patrick, Munnich, Arnold, Bahi-Buisson, Nadia, Fossoud, Catherine, Giuliano, Fabienne, Colleaux, Laurence, Burglen, Lydie, Gleeson, Joseph G, Boddaert, Nathalie, Saiardi, Adolfo, Cantagrel, Vincent
Published in Nature communications (30.11.2020)
Published in Nature communications (30.11.2020)
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Journal Article
Prothymosin alpha is phosphorylated in proliferating stimulated cells
BARCIA, M. G, CASTRO, J. M, JULLIEN, C. D, FREIRE, M
Published in The Journal of biological chemistry (05.03.1993)
Published in The Journal of biological chemistry (05.03.1993)
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Journal Article
Localization of Prothymosin α in the Nucleus
Castro, Jose M., Barcia, Miguel G.
Published in Biochemical and biophysical research communications (05.07.1996)
Published in Biochemical and biophysical research communications (05.07.1996)
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Journal Article
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease
Hikmat, Omar, Isohanni, Pirjo, Keshavan, Nandaki, Ferla, Matteo P., Fassone, Elisa, Abbott, Mary‐Alice, Bellusci, Marcello, Darin, Niklas, Dimmock, David, Ghezzi, Daniele, Houlden, Henry, Invernizzi, Federica, Kamarus Jaman, Nazreen B., Kurian, Manju A., Morava, Eva, Naess, Karin, Ortigoza‐Escobar, Juan Darío, Parikh, Sumit, Pennisi, Alessandra, Barcia, Giulia, Tylleskär, Karin B., Brackman, Damien, Wortmann, Saskia B., Taylor, Jenny C., Bindoff, Laurence A., Fellman, Vineta, Rahman, Shamima
Published in Annals of clinical and translational neurology (01.11.2021)
Published in Annals of clinical and translational neurology (01.11.2021)
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Journal Article
Prothymosin α is phosphorylated by casein kinase-2
Barcia, Miguel G., Castro, José M., Jullien, Cristina D., González, Carlos G., Freire, Manuel
Published in FEBS letters (09.11.1992)
Published in FEBS letters (09.11.1992)
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Journal Article
P17 – 2103 Early epileptic encephalopathies associated with STXBP1 mutations: three new patients with different electroclinical profile evoluting to infantile spasms
Barcia, G, Chemaly, N, Van Bogaert, P, Gobin, S, Barnerias, C, Kaminska, A, Munnich, A, Desguerre, I, Dulac, O, Nabbout, R
Published in European journal of paediatric neurology (01.09.2013)
Published in European journal of paediatric neurology (01.09.2013)
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Journal Article
Apports de la génétique au diagnostic des troubles du spectre autistique
Demily, C., Assouline, M., Boddaert, N., Barcia, G., Besmond, C., Poisson, A., Sanlaville, D., Munnich, A.
Published in Neuropsychiatrie de l'enfance et de l'adolescence (01.10.2016)
Published in Neuropsychiatrie de l'enfance et de l'adolescence (01.10.2016)
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Journal Article
Bosonic binary mixtures with Josephson-type interactions
Souza, Valéria de C., Arenas, Zochil González, Barci, Daniel G., Linhares, Cesar A.
Published in Physica A (15.05.2016)
Published in Physica A (15.05.2016)
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Journal Article
Abstract 696: Long Noncoding RNA Regulation Of Inflammation In Atherosclerosis
Gourvest, Morgane, Barcia Durán, José G, Zhang, Tracy, Wang, Jesse, Peled, Daniel, Newman, Alexandra, Dupuis, Samantha, Giannarelli, Chiara, van Solingen, Coen, Moore, Kathryn J
Published in Arteriosclerosis, thrombosis, and vascular biology (01.05.2023)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.05.2023)
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Journal Article
Pkd2 deletion during embryo development does not alter mesonephric programmed cell senescence
Da Silva-Álvarez, Sabela, Lamas-González, Olaya, Ferreirós, Alba, González, Patricia, Gómez, María, García-Caballero, Tomás, González Barcia, Miguel, García-González, Miguel A, Collado, Manuel
Published in The International journal of developmental biology (2018)
Published in The International journal of developmental biology (2018)
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Journal Article
Aquino eyes total log ban to avert floods
BY CRIS G. ODRONIA REPORTERRHAYDZ BARCIA RESEARCHER WITH REPORT FROM MARIA NIKKA U. GARRIGA
Published in Manila times (Quezon City, Philippines) (15.01.2011)
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Published in Manila times (Quezon City, Philippines) (15.01.2011)
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