Search Results - "Juntas‐Morales, Raúl"

Pharmacometabolomics applied to low‐dose interleukin‐2 treatment in amyotrophic lateral sclerosis by Alarcan, Hugo, Bruno, Clément, Emond, Patrick, Raoul, Cédric, Vourc'h, Patrick, Corcia, Philippe, Camu, William, Veyrune, Jean‐Luc, Garlanda, Cecilia, Locati, Massimo, Juntas‐Morales, Raúl, Saker, Safaa, Suehs, Carey, Masseguin, Christophe, Kirby, Janine, Shaw, Pamela, Malaspina, Andrea, De Vos, John, Al‐Chalabi, Ammar, Leigh, P. Nigel, Tree, Timothy, Bensimon, Gilbert, Blasco, Hélène

“…Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease. The immunosuppressive functions of regulatory T lymphocytes (Tregs) are impaired in…”
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Clinicopathological correlates in the frontotemporal lobar degeneration-motor neuron disease spectrum by Carbayo, Álvaro, Borrego-Écija, Sergi, Turon-Sans, Janina, Cortés-Vicente, Elena, Molina-Porcel, Laura, Gascón-Bayarri, Jordi, Rubio, Miguel Ángel, Povedano, Mónica, Gámez, Josep, Sotoca, Javier, Juntas-Morales, Raúl, Almendrote, Miriam, Marquié, Marta, Sánchez-Valle, Raquel, Illán-Gala, Ignacio, Dols-Icardo, Oriol, Rubio-Guerra, Sara, Bernal, Sara, Caballero-Ávila, Marta, Vesperinas, Ana, Gelpi, Ellen, Rojas-García, Ricard

“…Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease (MND) that shares a common clinical, genetic and pathologic spectrum with…”
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Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction by Turki, Ahmed, Hayot, Maurice, Carnac, Gilles, Pillard, Fabien, Passerieux, Emilie, Bommart, Sébastien, de Mauverger, Eric Raynaud, Hugon, Gérald, Pincemail, Joel, Pietri, Sylvia, Lambert, Karen, Belayew, Alexandra, Vassetzky, Yegor, Juntas Morales, Raul, Mercier, Jacques, Laoudj-Chenivesse, Dalila

“…Facioscapulohumeral muscular dystrophy (FSHD), the most frequent muscular dystrophy, is an autosomal dominant disease. In most individuals with FSHD, symptoms…”
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The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering by Ceprian, Maria, Juntas-Morales, Raul, Campbell, Graham, Walther-Louvier, Ulrike, Rivier, François, Camu, William, Esselin, Florence, Echaniz-Laguna, Andoni, Stojkovic, Tanya, Bouhour, Françoise, Latour, Philippe, Tricaud, Nicolas

“…Demyelinating Charcot-Marie-Tooth 4G (CMT4G) results from a recessive mutation in the 5'UTR region of the Hexokinase 1 (HK1) gene. HK participates in…”
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Reply to the Letter to the Editor in response to “Role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis: A systematic review and expert appraisal” by Meisel, Andreas, Baggi, Fulvio, Behin, Anthony, Evoli, Amelia, Kostera‐Pruszczyk, Anna, Mantegazza, Renato, Juntas Morales, Raul, Punga, Anna Rostedt, Sacconi, Sabrina, Schroeter, Michael, Verschuuren, Jan, Crathorne, Louise, Holmes, Kris, Leite, Maria‐Isabel

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Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant by Llauradó, Arnau, Gratacòs‐Viñola, Margarida, Rovira‐Moreno, Eulàlia, Codina‐Solà, Marta, Salvadó, Maria, Sanchez‐Tejerina, Daniel, Sotoca, Javier, Raguer, Núria, Garcia‐Arumi, Elena, Juntas‐Morales, Raul

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Survey on the management of Pompe disease in routine clinical practice in Spain by Domínguez-González, Cristina, Díaz-Marín, Carmina, Juntas-Morales, Raúl, Nascimiento-Osorio, Andrés, Rivera-Gallego, Alberto, Díaz-Manera, Jordi

“…Despite the availability of several clinical guidelines, not all health professionals use their recommendations to manage patients with Pompe disease, a rare…”
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ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy by Villar‐Quiles, Rocío N., Catervi, Fabio, Cabet, Eva, Juntas‐Morales, Raul, Genetti, Casie A., Gidaro, Teresa, Koparir, Asuman, Yüksel, Adnan, Coppens, Sandra, Deconinck, Nicolas, Pierce‐Hoffman, Emma, Lornage, Xavière, Durigneux, Julien, Laporte, Jocelyn, Rendu, John, Romero, Norma B., Beggs, Alan H., Servais, Laurent, Cossée, Mireille, Olivé, Montse, Böhm, Johann, Duband‐Goulet, Isabelle, Ferreiro, Ana

“…Objective Recently, the ASC‐1 complex has been identified as a mechanistic link between amyotrophic lateral sclerosis and spinal muscular atrophy (SMA), and 3…”
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Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene by Llauradó, Arnau, Rovira‐Moreno, Eulalia, Codina‐Solà, Marta, Martínez‐Saez, Elena, Salvadó, Maria, Sanchez‐Tejerina, Daniel, Sotoca, Javier, López‐Diego, Verónica, Restrepo‐Vera, Juan Luis, Garcia‐Arumi, Elena, Juntas‐Morales, Raul

“…Chronic progressive external ophthalmoplegia (CPEO) plus syndrome due to pathogenic biallelic variants in TOP3A gene has been described in only one single…”
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Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease by Breza, Marianthi, Hirst, Jennifer, Chelban, Viorica, Banneau, Guillaume, Tissier, Laurène, Kol, Bophara, Bourinaris, Thomas, Said, Samia A., Péréon, Yann, Heinzmann, Anna, Debs, Rabab, Juntas‐Morales, Raul, Martinez, Victoria G., Camdessanche, Jean P., Scherer‐Gagou, Clarisse, Zola, Jean‐Médard, Athanasiou‐Fragkouli, Alkyoni, Efthymiou, Stephanie, Vavougios, George, Velonakis, Georgios, Stamelou, Maria, Tzartos, John, Potagas, Constantin, Zambelis, Thomas, Mariotti, Caterina, Blackstone, Craig, Vandrovcova, Jana, Mavridis, Theodoros, Kartanou, Chrisoula, Stefanis, Leonidas, Wood, Nicholas, Karadima, Georgia, LeGuern, Eric, Koutsis, Georgios, Houlden, Henry, Stevanin, Giovanni

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Genotype–phenotype correlation in French patients with myelin protein zero gene‐related inherited neuropathy by Subréville, Marie, Bonello‐Palot, Nathalie, Yahiaoui, Douniazed, Beloribi‐Djefaflia, Sadia, Fernandes, Sara, Stojkovic, Tanya, Cassereau, Julien, Péréon, Yann, Echaniz‐Laguna, Andoni, Violleau, Marie‐Hélène, Soulages, Antoine, Louis, Sarah Léonard, Masingue, Marion, Magot, Armelle, Delmont, Emilien, Sacconi, Sabrina, Adams, David, Labeyrie, Céline, Genestet, Steeve, Noury, Jean‐Baptiste, Chanson, Jean‐Baptiste, Lévy, Nicolas, Juntas‐Morales, Raul, Tard, Céline, Sole, Guilhem, Attarian, Shahram

“…Background and purpose Preparations for clinical trials of unfolded protein response (UPR) inhibitors (such as Sephin1) that target the upregulated UPR in…”
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A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency by Perrin, Aurélien, Metay, Corinne, Villanova, Marcello, Carlier, Robert‐Yves, Pegoraro, Elena, Juntas Morales, Raul, Stojkovic, Tanya, Richard, Isabelle, Richard, Pascale, Romero, Norma B., Granzier, Henk, Koenig, Michel, Malfatti, Edoardo, Cossée, Mireille

“…Congenital titinopathies are myopathies with variable phenotypes and inheritance modes. Here, we fully characterized, using an integrated approach (deep…”
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Novel dominant distal titinopathy phenotype associated with copy number variation by Perrin, Aurélien, Juntas Morales, Raul, Chapon, Françoise, Thèze, Corinne, Lacourt, Delphine, Pégeot, Henri, Uro‐Coste, Emmanuelle, Giovannini, Diane, Leboucq, Nicolas, Mallaret, Martial, Lagrange, Emmeline, Rigau, Valérie, Gaudon, Karen, Richard, Pascale, Koenig, Michel, Métay, Corinne, Cossée, Mireille

“…The aim of this study was to analyze patients from two distinct families with a novel distal titinopathy phenotype associated with exactly the same CNV in the…”
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Biomarcadores pronósticos y de seguimiento en la polineuropatía desmielinizante inflamatoria crónica by Llauradó Gayete, Arnau, Sánchez-Tejerina San José, Daniel, Vidal Taboada, José M., Salvado Figueras, Maria, Sotoca-Fernández, Jorge, Juntas Morales, Raúl

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Debilidad como complicación del paciente crítico por COVID-19: características clínicas y factores pronósticos en una serie de casos by Ballvé Martín, Alejandro, Llauradó Gayete, Arnau, Palasí, Antoni, Quintana Luque, Manuel, Martínez Sáez, Elena, Laínez Samper, Elena, Raguer Sanz, Nuria, Juntas Morales, Raúl

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RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology by Benkirane, Mehdi, Da Cunha, Dylan, Marelli, Cecilia, Larrieu, Lise, Renaud, Mathilde, Varilh, Jessica, Pointaux, Morgane, Baux, David, Ardouin, Olivier, Vangoethem, Charles, Taulan, Magali, Daumas Duport, Benjamin, Bergougnoux, Anne, Corbillé, Anne-Gaelle, Cossée, Mireille, Juntas Morales, Raul, Tuffery-Giraud, Sylvie, Koenig, Michel, Isidor, Bertrand, Vincent, Marie-Claire

“…Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited late-onset neurological disease caused by bi-allelic AAGGG…”
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FHL1 is a major host factor for chikungunya virus infection by Meertens, Laurent, Hafirassou, Mohamed Lamine, Couderc, Thérèse, Bonnet-Madin, Lucie, Kril, Vasiliya, Kümmerer, Beate M., Labeau, Athena, Brugier, Alexis, Simon-Loriere, Etienne, Burlaud-Gaillard, Julien, Doyen, Cécile, Pezzi, Laura, Goupil, Thibaud, Rafasse, Sophia, Vidalain, Pierre-Olivier, Bertrand-Legout, Anne, Gueneau, Lucie, Juntas-Morales, Raul, Ben Yaou, Rabah, Bonne, Gisèle, de Lamballerie, Xavier, Benkirane, Monsef, Roingeard, Philippe, Delaugerre, Constance, Lecuit, Marc, Amara, Ali

“…Chikungunya virus (CHIKV) is a re-emerging alphavirus that is transmitted to humans by mosquito bites and causes musculoskeletal and joint pain 1 , 2 . Despite…”
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Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations by Echaniz‐Laguna, Andoni, Geuens, Thomas, Petiot, Philippe, Péréon, Yann, Adriaenssens, Elias, Haidar, Mansour, Capponi, Simona, Maisonobe, Thierry, Fournier, Emmanuel, Dubourg, Odile, Degos, Bertrand, Salachas, François, Lenglet, Timothée, Eymard, Bruno, Delmont, Emilien, Pouget, Jean, Juntas Morales, Raul, Goizet, Cyril, Latour, Philippe, Timmerman, Vincent, Stojkovic, Tanya

“…ABSTRACT In this study, we describe the phenotypic spectrum of distal hereditary motor neuropathy caused by mutations in the small heat shock proteins HSPB1…”
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Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy by Géraud, Justine, Dieterich, Klaus, Rendu, John, Uro Coste, Emmanuelle, Dobrzynski, Murielle, Marcorelle, Pascale, Ioos, Christine, Romero, Norma Beatriz, Baudou, Eloise, Brocard, Julie, Coville, Anne-Cécile, Fauré, Julien, Koenig, Michel, Juntas Morales, Raul, Lacène, Emmanuelle, Madelaine, Angéline, Marty, Isabelle, Pegeot, Henri, Theze, Corinne, Siegfried, Aurore, Cossee, Mireille, Cances, Claude

“…Congenital nemaline myopathies are rare pathologies characterised by muscle weakness and rod-shaped inclusions in the muscle fibres. Using next-generation…”
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Vitamin D confers protection to motoneurons and is a prognostic factor of amyotrophic lateral sclerosis by Camu, William, Tremblier, Boris, Plassot, Carine, Alphandery, Sébastien, Salsac, Céline, Pageot, Nicolas, Juntas-Morales, Raul, Scamps, Frédérique, Daures, Jean-Pierre, Raoul, Cédric

“…Abstract Amyotrophic lateral sclerosis (ALS) is an incurable paralytic disorder primarily typified by the selective and progressive degeneration of motoneurons…”
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