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Pharmacometabolomics applied to low‐dose interleukin‐2 treatment in amyotrophic lateral sclerosis.
Published in:
Annals of the New York Academy of Sciences, 2024, v. 1536, n. 1, p. 82, doi. 10.1111/nyas.15147
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
Publication type:
Article
Clinicopathological correlates in the frontotemporal lobar degeneration–motor neuron disease spectrum.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 7, p. 2357, doi. 10.1093/brain/awae011
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
Publication type:
Article
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Published in:
2022
By:
- Benkirane, Mehdi;
- Cunha, Dylan Da;
- Marelli, Cecilia;
- Larrieu, Lise;
- Renaud, Mathilde;
- Varilh, Jessica;
- Pointaux, Morgane;
- Baux, David;
- Ardouin, Olivier;
- Vangoethem, Charles;
- Taulan, Magali;
- Duport, Benjamin Daumas;
- Bergougnoux, Anne;
- Corbillé, Anne-Gaelle;
- Cossée, Mireille;
- Morales, Raul Juntas;
- Tuffery-Giraud, Sylvie;
- Koenig, Michel;
- Isidor, Bertrand;
- Vincent, Marie-Claire
Publication type:
journal article
Dramatic Weight Loss with Levetiracetam.
Published in:
Epilepsia (Series 4), 2008, v. 49, n. 2, p. 308, doi. 10.1111/j.1528-1167.2007.01273.x
By:
- Gelisse, Philippe;
- Juntas-Morales, Raul;
- Genton, Pierre;
- Hillaire-Buys, Dominique;
- Diaz, Ophélie;
- Coubes, Philippe;
- Crespel, Arielle
Publication type:
Article
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8506, doi. 10.3390/ijms23158506
By:
- Vecten, Maude;
- Pion, Emmanuelle;
- Bartoli, Marc;
- Morales, Raul Juntas;
- Sternberg, Damien;
- Rendu, John;
- Stojkovic, Tanya;
- Bourdain, Cécile Acquaviva;
- Métay, Corinne;
- Richard, Isabelle;
- Cerino, Mathieu;
- Milh, Mathieu;
- Campana-Salort, Emmanuelle;
- Gorokhova, Svetlana;
- Levy, Nicolas;
- Latypova, Xénia;
- Bonne, Gisèle;
- Biancalana, Valérie;
- Petit, François;
- Molon, Annamaria
Publication type:
Article
Long-term safety and efficacy of zilucoplan in patients with generalized myasthenia gravis: interim analysis of the RAISE-XT open-label extension study.
Published in:
Therapeutic Advances in Neurological Disorders, 2024, p. 1, doi. 10.1177/17562864241243186
By:
- Howard Jr, James F.;
- Bresch, Saskia;
- Farmakidis, Constantine;
- Freimer, Miriam;
- Genge, Angela;
- Hewamadduma, Channa;
- Hinton, John;
- Hussain, Yessar;
- Juntas-Morales, Raul;
- Kaminski, Henry J.;
- Maniaol, Angelina;
- Mantegazza, Renato;
- Masuda, Masayuki;
- Nowak, Richard J.;
- Sivakumar, Kumaraswamy;
- Śmiłowski, Marek;
- Utsugisawa, Kimiaki;
- Vu, Tuan;
- Weiss, Michael D.;
- Zajda, Małgorzata
Publication type:
Article
Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant.
Published in:
Muscle & Nerve, 2023, v. 67, n. 6, p. E22, doi. 10.1002/mus.27788
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
Publication type:
Article
Bent spine syndrome as the initial symptom of late-onset Pompe disease.
Published in:
2017
By:
- Taisne, Nicolas;
- Desnuelle, Claude;
- Juntas Morales, Raul;
- Ferrer Monasterio, Xavier;
- Sacconi, Sabrina;
- Duval, Fanny;
- Sole, Guilhem;
- Flipo, René Marc;
- Lacour, Arnaud;
- Vermersch, Patrick;
- Cardon, Thierry;
- Flipo, René Marc
Publication type:
journal article
New Targeted Agents in Myasthenia Gravis and Future Therapeutic Strategies.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 21, p. 6394, doi. 10.3390/jcm11216394
By:
- Sánchez-Tejerina, Daniel;
- Sotoca, Javier;
- Llaurado, Arnau;
- López-Diego, Veronica;
- Juntas-Morales, Raul;
- Salvado, Maria
Publication type:
Article
Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort.
Published in:
Frontiers in Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fnins.2020.00316
By:
- Esselin, Florence;
- Mouzat, Kevin;
- Polge, Anne;
- Juntas-Morales, Raul;
- Pageot, Nicolas;
- De la Cruz, Elisa;
- Bernard, Emilien;
- Lagrange, Emmeline;
- Danel, Véronique;
- Alphandery, Sébastien;
- Labar, Laura;
- Nogué, Erika;
- Picot, Marie-Christine;
- Lumbroso, Serge;
- Camu, William
Publication type:
Article
Survey on the management of Pompe disease in routine clinical practice in Spain.
Published in:
2022
By:
- Domínguez-González, Cristina;
- Díaz-Marín, Carmina;
- Juntas-Morales, Raúl;
- Nascimiento-Osorio, Andrés;
- Rivera-Gallego, Alberto;
- Díaz-Manera, Jordi
Publication type:
journal article
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Published in:
2022
By:
- Sanson, Benoît;
- Stalens, Caroline;
- Guien, Céline;
- Villa, Luisa;
- Eng, Catherine;
- Rabarimeriarijaona, Sitraka;
- Bernard, Rafaëlle;
- Cintas, Pascal;
- Solé, Guilhem;
- Tiffreau, Vincent;
- Echaniz-Laguna, Andoni;
- Magot, Armelle;
- Juntas Morales, Raul;
- Boyer, François Constant;
- Nadaj-Pakleza, Aleksandra;
- Jacquin-Piques, Agnès;
- Béroud, Christophe;
- Sacconi, Sabrina;
- The French FSHD registry collaboration group;
- Acket, Blandine
Publication type:
journal article
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Published in:
Brain: A Journal of Neurology, 2008, v. 131, n. 5, p. 1217
By:
- Ines Dierick;
- Jonathan Baets;
- Joy Irobi;
- An Jacobs;
- Els De Vriendt;
- Tine Deconinck;
- Luciano Merlini;
- Peter Van den Bergh;
- Vedrana Milic Rasic;
- Wim Robberecht;
- Dirk Fischer;
- Raul Juntas Morales;
- Zoran Mitrovic;
- Pavel Seeman;
- Radim Mazanec;
- Andrzej Kochanski;
- Albena Jordanova;
- Michaela Auer-Grumbach;
- A. T. J. M. Helderman-van den Enden;
- John H. J. Wokke
Publication type:
Article
Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 83, doi. 10.3233/JND-210711
By:
- Gros, Marilyn;
- Nunes, Andreia M.;
- Daoudlarian, Douglas;
- Pini, Jonathan;
- Martinuzzi, Emanuela;
- Barbosa, Susana;
- Ramirez, Monique;
- Puma, Angela;
- Villa, Luisa;
- Cavalli, Michele;
- Grecu, Nicolae;
- Garcia, Jérémy;
- Siciliano, Gabriele;
- Solé, Guilhem;
- Juntas-Morales, Raul;
- Jones, Peter L.;
- Jones, Takako;
- Glaichenhaus, Nicolas;
- Sacconi, Sabrina
Publication type:
Article
Novel dominant distal titinopathy phenotype associated with copy number variation.
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 9, p. 1906, doi. 10.1002/acn3.51434
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
Publication type:
Article
A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 846, doi. 10.1002/acn3.51031
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
Publication type:
Article
Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 492, doi. 10.1111/cge.14287
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
Publication type:
Article
Progression of stroke-like lesions along the cortico-ponto-cerebellar tract.
Published in:
Acta Neurologica Belgica, 2017, v. 117, n. 1, p. 309, doi. 10.1007/s13760-016-0671-9
By:
- Taieb, Guillaume;
- Juntas-Morales, Raul;
- Renard, Dimitri
Publication type:
Article
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Published in:
2020
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
Publication type:
journal article
Clinical and genetic features of patients suffering from CMT4J.
Published in:
Journal of Neurology, 2024, v. 271, n. 3, p. 1355, doi. 10.1007/s00415-023-12076-4
By:
- Beloribi-Djefaflia, Sadia;
- Morales, Raul Juntas;
- Fatehi, Farzad;
- Isapof, Arnaud;
- Servais, Laurent;
- Leonard-Louis, Sarah;
- Michaud, Maud;
- Verdure, Pierre;
- Gidaro, Teresa;
- Pouget, Jean;
- Poinsignon, Vianney;
- Bonello-Palot, Nathalie;
- Attarian, Shahram
Publication type:
Article
Diagnosis and management of Becker muscular dystrophy: the French guidelines.
Published in:
Journal of Neurology, 2023, v. 270, n. 10, p. 4763, doi. 10.1007/s00415-023-11837-5
By:
- Magot, Armelle;
- Wahbi, Karim;
- Leturcq, France;
- Jaffre, Sandrine;
- Péréon, Yann;
- Sole, Guilhem;
- Ambrosi, Pierre;
- Boulle, Ralph;
- Cances, Claude;
- Cossee, Mireille;
- Debelleix, Stéphane;
- Delleci, Claire;
- Duboc, Denis;
- Feasson, Leonard;
- Ghorab, Karima;
- Goizet, Cyril;
- Gonzales, Jesus;
- Iriart, Xavier;
- Juntas-Morales, Raul;
- Llontop, Claudio
Publication type:
Article
Antibodies against the node of Ranvier: a real-life evaluation of incidence, clinical features and response to treatment based on a prospective analysis of 1500 sera.
Published in:
Journal of Neurology, 2020, v. 267, n. 12, p. 3664, doi. 10.1007/s00415-020-10041-z
By:
- Delmont, Emilien;
- Brodovitch, Alexandre;
- Kouton, Ludivine;
- Allou, Thibaut;
- Beltran, Stéphane;
- Brisset, Marion;
- Camdessanché, Jean Philippe;
- Cauquil, Cécile;
- Cirion, Jonathan;
- Dubard, Thierry;
- Echaniz-Laguna, Andoni;
- Grapperon, Aude-Marie;
- Jauffret, Joëlle;
- Juntas-Morales, Raul;
- Kremer, Laurent Daniel;
- Kuntzer, Thierry;
- Labeyrie, Céline;
- Lanfranco, Lucas;
- Maisonobe, Thierry;
- Mavroudakis, Nicolas
Publication type:
Article
Amyotrophic lateral sclerosis transcriptomics reveals immunological effects of low-dose interleukin-2.
Published in:
Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab141
By:
- Giovannelli, Ilaria;
- Bayatti, Nadhim;
- Brown, Abigail;
- Wang, Dennis;
- Mickunas, Marius;
- Camu, William;
- Veyrune, Jean-Luc;
- Payan, Christine;
- Garlanda, Cecilia;
- Locati, Massimo;
- Juntas-Morales, Raul;
- Pageot, Nicolas;
- Malaspina, Andrea;
- Andreasson, Ulf;
- Suehs, Carey;
- Saker, Safa;
- Masseguin, Christophe;
- de Vos, John;
- Zetterberg, Henrik;
- Al-Chalabi, Ammar
Publication type:
Article
Low 25OH Vitamin D Blood Levels Are Independently Associated With Higher Amyotrophic Lateral Sclerosis Severity Scores: Results From a Prospective Study.
Published in:
Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00363
By:
- Juntas-Morales, Raul;
- Pageot, Nicolas;
- Marin, Gregory;
- Dupuy, Anne-Marie;
- Alphandery, Sébastien;
- Labar, Laura;
- Esselin, Florence;
- Picot, Marie Christine;
- Camu, William
Publication type:
Article
Gait Assessment in Chronic Inflammatory Demyelinating Polyradiculoneuropathy.
Published in:
Acta Neurologica Scandinavica, 2024, v. 2024, p. 1, doi. 10.1155/2024/7037704
By:
- Llauradó, Arnau;
- Quintana, Manuel;
- Gratacós-Viñola, Margarita;
- Vidal-Taboada, Jose Manuel;
- Restrepo-Vera, Juan Luis;
- Alemañ, José;
- López-Diego, Verónica;
- Salvadó, Maria;
- Sanchez-Tejerina, Daniel;
- Sotoca, Javier;
- Raguer, Núria;
- Juntas-Morales, Raul
Publication type:
Article
Immunological, Clinical, and Epidemiological Features of Guillain-Barré Syndrome Associated with SARS-CoV-2 Infection.
Published in:
Acta Neurologica Scandinavica, 2023, p. 1, doi. 10.1155/2023/5380946
By:
- Restrepo-Vera, Juan Luis;
- Llauradó, Arnau;
- Palasí, Antoni;
- González-Martínez, Victoria;
- Gratacòs, Margarida;
- Salvadó, Maria;
- Sánchez-Tejerina, Daniel;
- Sotoca, Javier;
- Raguer, Núria;
- Juntas-Morales, Raul
Publication type:
Article
The Use of Peripherally Inserted Central Catheter in Amyotrophic Lateral Sclerosis Patients at a Later Stage.
Published in:
European Neurology, 2017, v. 77, n. 1/2, p. 87, doi. 10.1159/000454858
By:
- Juntas-Morales, Raul;
- Pageot, Nicolas;
- Alphandéry, Sébastien;
- Camu, William
Publication type:
Article
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".
Published in:
European Journal of Neurology, 2023, v. 30, n. 4, p. 1162, doi. 10.1111/ene.15690
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
Publication type:
Article
Role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis: A systematic review and expert appraisal.
Published in:
European Journal of Neurology, 2023, v. 30, n. 1, p. 266, doi. 10.1111/ene.15565
By:
- Meisel, Andreas;
- Baggi, Fulvio;
- Behin, Anthony;
- Evoli, Amelia;
- Kostera‐Pruszczyk, Anna;
- Mantegazza, Renato;
- Morales, Raul Juntas;
- Punga, Anna Rostedt;
- Sacconi, Sabrina;
- Schroeter, Michael;
- Verschuuren, Jan;
- Crathorne, Louise;
- Holmes, Kris;
- Leite, Maria‐Isabel
Publication type:
Article
Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease.
Published in:
Movement Disorders, 2021, v. 36, n. 4, p. 1034, doi. 10.1002/mds.28487
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
Publication type:
Article
Biofluid Biomarkers in the Prognosis of Amyotrophic Lateral Sclerosis: Recent Developments and Therapeutic Applications.
Published in:
Cells (2073-4409), 2023, v. 12, n. 8, p. 1180, doi. 10.3390/cells12081180
By:
- Sanchez-Tejerina, Daniel;
- Llaurado, Arnau;
- Sotoca, Javier;
- Lopez-Diego, Veronica;
- Vidal Taboada, Jose M.;
- Salvado, Maria;
- Juntas-Morales, Raul
Publication type:
Article
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Published in:
Human Mutation, 2017, v. 38, n. 5, p. 556, doi. 10.1002/humu.23189
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
Publication type:
Article
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Published in:
Human Mutation, 2016, v. 37, n. 12, p. 1340, doi. 10.1002/humu.23063
By:
- Marelli, Cecilia;
- Guissart, Claire;
- Hubsch, Cecile;
- Renaud, Mathilde;
- Villemin, Jean‐Philippe;
- Larrieu, Lise;
- Charles, Perrine;
- Ayrignac, Xavier;
- Sacconi, Sabrina;
- Collignon, Patrick;
- Cuntz‐Shadfar, Danielle;
- Perrin, Laurine;
- Benarrosh, Anelia;
- Degardin, Adrian;
- Lagha‐Boukbiza, Ouhaïd;
- Mutez, Eugenie;
- Carlander, Bertrand;
- Morales, Raul Juntas;
- Gonzalez, Victoria;
- Carra‐Dalliere, Clarisse
Publication type:
Article
Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).
Published in:
Genes, 2024, v. 15, n. 6, p. 692, doi. 10.3390/genes15060692
By:
- Rochat, Julie;
- Blavier, André;
- Ruet, Séverine;
- Vasseur, Sophie;
- Puma, Angela;
- Desnous, Béatrice;
- Chan, Victor;
- Delmont, Emilien;
- Attarian, Shahram;
- Juntas Morales, Raul;
- Quadrio, Isabelle;
- Vidoni, Léo;
- Bonello-Palot, Nathalie;
- Cheillan, David
Publication type:
Article
An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature.
Published in:
Genes, 2022, v. 13, n. 8, p. 1483, doi. 10.3390/genes13081483
By:
- Sánchez-Tejerina, Daniel;
- Restrepo-Vera, Juan Luis;
- Rovira-Moreno, Eulalia;
- Codina-Sola, Marta;
- Llauradó, Arnau;
- Sotoca, Javier;
- Salvado, Maria;
- Raguer, Núria;
- García-Arumí, Elena;
- Juntas-Morales, Raúl
Publication type:
Article
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Published in:
Genes, 2021, v. 12, n. 8, p. 1199, doi. 10.3390/genes12081199
By:
- Juntas Morales, Raul;
- Perrin, Aurélien;
- Solé, Guilhem;
- Lacourt, Delphine;
- Pegeot, Henri;
- Walther-Louvier, Ulrike;
- Cintas, Pascal;
- Cances, Claude;
- Espil, Caroline;
- Theze, Corinne;
- Zenagui, Reda;
- Yauy, Kevin;
- Cosset, Elodie;
- Renard, Dimitri;
- Rigau, Valerie;
- Maues de Paula, Andre;
- Uro-Coste, Emmanuelle;
- Arne-Bes, Marie-Christine;
- Martin Négrier, Marie-Laure;
- Leboucq, Nicolas
Publication type:
Article
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.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 8, p. 4364, doi. 10.3390/ijms25084364
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
Publication type:
Article
Liver X Receptor Genes Variants Modulate ALS Phenotype.
Published in:
Molecular Neurobiology, 2018, v. 55, n. 3, p. 1959, doi. 10.1007/s12035-017-0453-2
By:
- Mouzat, Kevin;
- Molinari, Nicolas;
- Kantar, Jovana;
- Polge, Anne;
- Corcia, Philippe;
- Couratier, Philippe;
- Clavelou, Pierre;
- Juntas-Morales, Raul;
- Pageot, Nicolas;
- Lobaccaro, Jean -Marc A.;
- Raoul, Cedric;
- Lumbroso, Serge;
- Camu, William
Publication type:
Article

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