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The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 4274, doi. 10.3390/ijms22084274
By:
- Yubero, Dèlia;
- Natera-de Benito, Daniel;
- Pijuan, Jordi;
- Armstrong, Judith;
- Martorell, Loreto;
- Fernàndez, Guerau;
- Maynou, Joan;
- Jou, Cristina;
- Roldan, Mònica;
- Ortez, Carlos;
- Nascimento, Andrés;
- Hoenicka, Janet;
- Palau, Francesc
Publication type:
Article
CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 915, doi. 10.1002/ajmg.a.61122
By:
- Carrera‐García, Laura;
- Natera‐de Benito, Daniel;
- Dieterich, Klaus;
- Banda, Marta G. G.;
- Felter, Adrien;
- Inarejos, Emili;
- Codina, Anna;
- Jou, Cristina;
- Roldan, Monica;
- Palau, Francesc;
- Hoenicka, Janet;
- Pijuan, Jordi;
- Ortez, Carlos;
- Expósito‐Escudero, Jessica;
- Durand, Chantal;
- Nugues, Frédérique;
- Jimenez‐Mallebrera, Cecilia;
- Colomer, Jaume;
- Carlier, Robert Y.;
- Lochmüller, Hanns
Publication type:
Article
Regulatory and pathogenic mechanisms in response to iron deficiency and excess in fungi.
Published in:
Microbial Biotechnology, 2023, v. 16, n. 11, p. 2053, doi. 10.1111/1751-7915.14346
By:
- Pijuan, Jordi;
- Moreno, David F.;
- Yahya, Galal;
- Moisa, Mihaela;
- Ul Haq, Ihtisham;
- Krukiewicz, Katarzyna;
- Mosbah, Rasha;
- Metwally, Kamel;
- Cavalu, Simona
Publication type:
Article
Profiling the physiological pitfalls of anti‐hepatitis C direct‐acting agents in budding yeast.
Published in:
Microbial Biotechnology, 2021, v. 14, n. 5, p. 2199, doi. 10.1111/1751-7915.13904
By:
- Yahya, Galal;
- Hashem Mohamed, Nashwa;
- Pijuan, Jordi;
- Seleem, Noura M.;
- Mosbah, Rasha;
- Hess, Steffen;
- Abdelmoaty, Ahmed A.;
- Almeer, Rafa;
- Abdel‐Daim, Mohamed M.;
- Shulaywih Alshaman, Hamoud;
- Juraiby, Ibrahim;
- Metwally, Kamel;
- Storchova, Zuzana
Publication type:
Article
PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2021, v. 14, n. 6, p. 1088, doi. 10.1002/aur.2502
By:
- Pijuan, Jordi;
- Ortigoza‐Escobar, Juan Darío;
- Ortiz, Juan;
- Alcalá, Adrián;
- Calvo, María José;
- Cubells, Mariona;
- Hernando‐Davalillo, Cristina;
- Palau, Francesc;
- Hoenicka, Janet
Publication type:
Article
Oxidative stress‐induced FAK activation contributes to uterine serous carcinoma aggressiveness.
Published in:
Molecular Oncology, 2023, v. 17, n. 1, p. 98, doi. 10.1002/1878-0261.13346
By:
- Lopez‐Mejia, Isabel C.;
- Pijuan, Jordi;
- Navaridas, Raúl;
- Santacana, Maria;
- Gatius, Sònia;
- Velasco, Ana;
- Castellà, Gerard;
- Panosa, Anaïs;
- Cabiscol, Elisa;
- Pinyol, Miquel;
- Coll, Laura;
- Bonifaci, Núria;
- Peña, Laura Plata;
- Vidal, August;
- Villanueva, Alberto;
- Gari, Eloi;
- Llobet‐Navàs, David;
- Fajas, Lluis;
- Matias‐Guiu, Xavier;
- Yeramian, Andrée
Publication type:
Article
Inheritance of c.628‐6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants.
Published in:
Clinical Genetics, 2024, v. 105, n. 3, p. 340, doi. 10.1111/cge.14454
By:
- Pijuan, Jordi;
- Vilanova‐Adell, Alba;
- Casas‐Alba, Dídac;
- Campistol, Jaume;
- Hoenicka, Janet;
- Palau, Francesc
Publication type:
Article
Cth2 Protein Mediates Early Adaptation of Yeast Cells to Oxidative Stress Conditions.
Published in:
PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0148204
By:
- Castells-Roca, Laia;
- Pijuan, Jordi;
- Ferrezuelo, Francisco;
- Bellí, Gemma;
- Herrero, Enrique
Publication type:
Article
A Novel AIFM1‐Related Disorder Phenotype Treated with Deep Brain Stimulation.
Published in:
Movement Disorders, 2024, v. 39, n. 1, p. 215, doi. 10.1002/mds.29616
By:
- Pijuan, Jordi;
- Sevrioukova, Irina F.;
- García‐Campos, Óscar;
- Hernaez, Mar;
- Gort, Laura;
- Gómez‐Chiari, Marta;
- Jou, Cristina;
- Candela‐Cantó, Santiago;
- Rumiá, Jordi;
- Artuch, Rafael;
- Palau, Francesc;
- Hoenicka, Janet;
- Ortigoza‐Escobar, Juan Dario
Publication type:
Article
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Published in:
Acta Neuropathologica, 2023, v. 145, n. 4, p. 479, doi. 10.1007/s00401-023-02551-7
By:
- Nascimento, Andres;
- Bruels, Christine C.;
- Donkervoort, Sandra;
- Foley, A. Reghan;
- Codina, Anna;
- Milisenda, Jose C.;
- Estrella, Elicia A.;
- Li, Chengcheng;
- Pijuan, Jordi;
- Draper, Isabelle;
- Hu, Ying;
- Stafki, Seth A.;
- Pais, Lynn S.;
- Ganesh, Vijay S.;
- O'Donnell-Luria, Anne;
- Syeda, Safoora B.;
- Carrera-García, Laura;
- Expósito-Escudero, Jessica;
- Yubero, Delia;
- Martorell, Loreto
Publication type:
Article
Cooling Rate Modeling and Evaluation during Centrifugal Atomization Process.
Published in:
Journal of Manufacturing & Materials Processing, 2023, v. 7, n. 3, p. 112, doi. 10.3390/jmmp7030112
By:
- Cegarra, Sasha A.;
- Pijuan, Jordi;
- Riera, María D.
Publication type:
Article
Effect of processing parameters on copper powder produced by novel hybrid atomisation technique.
Published in:
Powder Metallurgy, 2020, v. 63, n. 2, p. 142, doi. 10.1080/00325899.2020.1724431
By:
- Cegarra Salges, Sasha Alejandra;
- Pijuan, Jordi;
- Hernández, Ricardo;
- Riera, Maria Dolores
Publication type:
Article
Centrifugal Atomization of Glass-Forming Alloy Al 86 Ni 8 Y 4.5 La 1.5.
Published in:
Materials (1996-1944), 2022, v. 15, n. 22, p. 8159, doi. 10.3390/ma15228159
By:
- Pijuan, Jordi;
- Cegarra, Sasha Alejandra;
- Dosta, Sergi;
- Albaladejo-Fuentes, Vicente;
- Riera, María Dolores
Publication type:
Article
T‐type calcium channels drive migration/invasion in BRAFV600E melanoma cells through Snail1.
Published in:
Pigment Cell & Melanoma Research, 2018, v. 31, n. 4, p. 484, doi. 10.1111/pcmr.12690
By:
- Maiques, Oscar;
- Barceló, Carla;
- Panosa, Anaïs;
- Pijuan, Jordi;
- Orgaz, Jose L.;
- Rodriguez‐Hernandez, Irene;
- Matas‐Nadal, Clara;
- Tell, Gemma;
- Vilella, Ramón;
- Fabra, Angels;
- Puig, Susana;
- Sanz‐Moreno, Victoria;
- Matias‐Guiu, Xavier;
- Canti, Carles;
- Herreros, Judit;
- Marti, Rosa M.;
- Macià, Anna
Publication type:
Article
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.
Published in:
Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.784880
By:
- Pijuan, Jordi;
- Cantarero, Lara;
- Natera-de Benito, Daniel;
- Altimir, Arola;
- Altisent-Huguet, Anna;
- Díaz-Osorio, Yaiza;
- Carrera-García, Laura;
- Expósito-Escudero, Jessica;
- Ortez, Carlos;
- Nascimento, Andrés;
- Hoenicka, Janet;
- Palau, Francesc
Publication type:
Article

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