Search Results - Natalia Juliá‐Palacios

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  1. 1
    Spermidine Treatment Improves <scp>GRIN2B</scp> Loss‐Of‐Function, A Primary Disorder of Glutamatergic Neurotransmission

    Spermidine Treatment Improves <scp>GRIN2B</scp> Loss‐Of‐Function, A Primary Disorder of Glutamatergic Neurotransmission by Ana Santos‐Gómez, Natalia Juliá‐Palacios, A. Rejano‐Bosch, Rosanna Mari‐Vico, Federico Míguez‐Cabello, Mercè Masana, David Soto, Mireia Olivella, Àngels García‐Cazorla, Xavier Altafaj

    Published 2025
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  2. 2
    Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

    Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity by Laura Planas‐Serra, Nathalie Launay, Leire Goicoechea, Bénédicte Héron, Cristina Jou, Natalia Juliá‐Palacios, Montserrat Ruíz, Stéphane Fourcade, Carlos Casasnovas, Carolina de la Torre, A. Gélot, María Marsal, Pablo Loza‐Álvarez, Àngels García‐Cazorla, Ali Fatemi, Isidró Ferrer, Manuel Portero‐Otín, Estela Area‐Gómez, Aurora Pujol

    Published 2023
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  3. 3
    Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

    Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder by Itay Tokatly Latzer, Jean‐Baptiste Roullet, Wardiya Afshar Saber, Henry H.C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García‐Cazorla, Natalia Juliá‐Palacios, K. Michael Gibson, Mustafa Şahin, Phillip L. Pearl

    Published 2024
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  4. 4
    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency by Natalia Juliá‐Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Horváth, Thomas Lücke, Cheuk Wing Fung, Suet‐Na Wong, Elisenda Cortès‐Saladelafont, M. Mar Rovira‐Remisa, Yılmaz Yıldız, Saadet Mercimek‐Andrews, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung‐Klawitter, Kathrin Jeltsch, Serap Sivri, Sven F. Garbade, Àngels García‐Cazorla, Thomas Opladen

    Published 2024
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  5. 5
    Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor‐1 Receptor (<scp>CSF1R)</scp>‐Related Disorder

    Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor‐1 Receptor (<scp>CSF1R)</scp>‐Related Disorder by Hemmo A. F. Yska, Marianne Golse, Shanice Beerepoot, Stefanie N. Hayer, Caroline Bergner, Anderson Rodrigues Brandão de Paiva, Cécilia Marelli, Natalia Juliá Palacios, Yudy Llamas Osorio, Camille Huiban, Georg–Nikolaus Franke, Friederike Wortmann, Udo Holtick, Xavier Ayrignac, Marjo S. van der Knaap, Lüdger Schöls, Vincent Perlbarg, Damien Galanaud, Moniek A. de Witte, Nicole I. Wolf, Stéphanie Nguyen, Fanny Mochel

    Published 2025
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  6. 6
    Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment by Marivi V. Cascajo-Almenara, Natalia Juliá‐Palacios, Roser Urreizti, Ana Sánchez‐Cuesta, Daniel J.M. Fernández‐Ayala, Elena García-Díaz, Clara Oliva, Maria del Mar O ́Callaghan, Abraham J. Paredes‐Fuentes, Pedro Moreno, Jordi Muchart, A. Nascimento, C. Ortez, Daniel Natera‐de Benito, M. Pineda, Noelia Rivera, Tyler R. Fortuna, Deepa Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Dèlia Yubero, Àngels García‐Cazorla, Udai Bhan Pandey, Carlos Santos–Ocaña, Rafael Artuch

    Published 2024
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  7. 7
    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes by Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Alghamdi, Yair Anikster, Xinhua Bao, Fahad A. Bashiri, Bruria Ben Zeev, Giovanni Bisello, Ahmet Cevdet Ceylan, Yin‐Hsiu Chien, Yew Sing Choy, Sarah H. Elsea, Lisa Flint, Àngels García‐Cazorla, Charul Gijavanekar, Emel Yılmaz Gümüş, Muddathir H. Hamad, Burcu Öztürk Hişmi, Tomáš Honzík, Oya Kuseyri Hübschmann, Wuh‐Liang Hwu, Salvador Ibáñez‐Micó, Kathrin Jeltsch, Natalia Juliá‐Palacios, Çiğdem Seher Kasapkara, Manju A. Kurian, Katarzyna Kuśmierska, Ning Liu, Lock Hock Ngu, John D. Odom, Winnie Ong, Thomas Opladen, Mari Oppebøen, Phillip L. Pearl, Belén Pérez, Roser Pons, Agnieszka Magdalena Rygiel, Tan Ee Shien, Robert Spaull, Jolanta Sykut‐Cegielska, Brahim Tabarki, Trine Tangeraas, Beat Thöny, Tessa Wassenberg, Yongxin Wen, Yusnita Yakob, Jasmine Goh Chew Yin, J Zeman, Nenad Blau

    Published 2023
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