缅北禁地

Jordi Diaz Manera, MD, PhD, is a Professor of Neuromuscular, Translational Medicine and Genetics at 缅北禁地 and Honorary Consultant in Genetics at 缅北禁地 Hospitals NHS Foundation Trust.  

Jordi did the undergraduate studies in Medicine in Universitat Rovira I Virigili in Tarragona (Spain) and was trained from 2001 to 2005 in Neurology at Hospital de la Santa Creu i Sant Pau (HSCSP) in Barcelona. After the neurology training, he did a fellowship in Neuromuscular Diseases at the same hospital funded by the Spanish Society of Neurology. Jordi became an associate member of the Neurology department of HSCSP in 2006 working in the Neuromuscular Diseases Unit where he was mainly responsible of the diagnosis and follow-up of patients with inherited and acquired myopathies. 

Jordi has a long-standing experience in translational research, being interested both in basic and clinical research areas. He was a visitor researcher at the Stem Cell Research Unit at San Rafaelle Ospedalle in Milano (Italy) lead by Prof. Giulio Cossu from 2008 to 2010. There he worked in a project related with stem cell characterization and treatment of a murine model of dysferlinopathy with these cells. Spending two years working in a research laboratory awoke Jordi’s interest in cell biology and particularly understanding the process of muscle degeneration and regeneration that takes place in patients with muscular diseases, which has been the motivation of his career. In 2013 he completed his PhD on "New diagnostic and therapeutic tools for dysferlinopathy", focusing on the development of new diagnostic and therapeutic tools for dysferlin muscular dystrophy, being rated excellent cum laude by the examining board and awarded the European Special Mention by the Autonomous University of Barcelona. Since that moment he became a senior member of the research laboratory in Barcelona and responsible of the research line in muscle diseases. In this role he has supervised eight PhD students that successfully completed their PhD while being working in the laboratory. In recent years, he has become more interested in discovering new molecular targets for therapies to treat patients with these diseases. He has especially worked with tyrosine-kinase inhibitors as antifibrotic drugs and is the co-owner of a patent to use nintedanib for treatment of muscular dystrophies.  

His clinical research activities are mainly focused on the implementation of muscle to characterize the phenotype of patients with different neuromuscular diseases and also to quantify diseases progression. In this sense, he has published several papers describing the patterns of muscle involvement in many different diseases including limb girdle muscular dystrophies, Pompe disease or neuropathies. Moreover, he has also used different MRI techniques to study disease progression, including Dixon, DTI, magnetization transfer or T2. Jordi is especially interested in correlating clinical and radiological data as well as understanding how MRI can identify the changes that are taking place in the tissue. 

Jordi is member of several professional societies including the Catalan and Spanish Neurology Society, the European Academy of Neurology, the British Myology Society and the World Muscle Society. He was the coordinator of the Neuromuscular Study group of the Spanish Society of Neurology from 2012 to 2014 and member of the directive committee of the Catalan Society of Neurology. He has been also the chair of the limb girdle study group of TREAT-NMD from 2019 to 2022 and is since 2021, the Regional Lead of Genetics of NHIR for the North of England. Jordi is on the grant reviewer panel of several organizations including MDUK in UK, AFM in France, FIS in Spain. He is also reviewer for many journals and is associate editor of Scientific Reports and of Frontiers in Neurology.  He has recently been awarded with a Professorial position by the Academy of Medical Sciences.  

This broad background in neuromuscular disorders, with specific training and expertise in translational research has led him to be PI or co-Investigator of several grants funded both by private or public institutions. The results of these investigations have been published in international peer-review journals of high impact and have been important in the evolution of the knowledge in his topics of interest. 

One of his main point of interests is Pompe Disease. Jordi has studied it contributing to the field, to its diagnosis, stablished correlations between clinical findings and muscles MRI results, other related studies, personally contributing to the development of guidelines for the treatments of patients with this disease. He is one of the members of the Steering Committee of the European Pompe Consortium (EPOC). 

Basic research is one of the pillars of his research routine. For years, they have been interested in the physiopathology and the development of new treatments for muscular dystrophies. The work carried out in this field has allowed his team to find a new indication for an antifibrotic drug, with a European patent shared with Boehringer-Ingelheim, which is the pharmaceutical company that has developed the drug and began a series of research projects grants with both private and public fundings.

His basic research interest focuses on the process of muscle fibre degeneration and the replacement of muscle tissue by fat and fibrosis that takes place in patients with muscular dystrophies. He is especially interested in translating outcomes from cell biology experiments to the development of new therapies and test them in preclinical animal models of muscular dystrophies.

His current clinical research projects concentrate on the characterization of large cohort of patients with muscular dystrophies, the implementation of quantitative muscle MRI for the diagnosis and follow-up of patients with muscular diseases and the development of new outcome measures for clinical trials and natural history studies.

This has allowed him to publish numerous papers in international journals and collaborate with scientific groups around the world. As a result of this effort, he has been part of the Action-COST called MYO-MRI aimed to disseminate the use of MRI among clinicians dedicated to neuromuscular diseases and coordinating the last two years of the COST some of the group meetings. This participation has opened the door to new studies in which their Unit is participating, and that has enabled to take their centre to the forefront of research in this aspect.

Finally, the third aspect of his research is Pompe disease, a metabolic myopathy of which him and his team have done a series of basic research and radiological work that have allowed them to publish articles in first quartile international journals.

In collaboration with the other members of the European Pompe Consortium (EPOC), they have already published guidelines for the follow-up of patients with Pompe disease. Besides he has run clinical studies analysing the muscle MRI features of the patients, studied the concentration of different biomarkers in their blood samples and compared these concentrations with their muscle function and MRI features.

He was the PI of the COMET and the PROPEL Stud in Barcelona and collaborated in the design of several clinical studies with patients such as de COS Study in patients with Dysferlinopathy or the Natural history studies performed with Pompe patients at their centre.

• Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien Y-H, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B, Behin A, Boentert M, Carvalho G, Chahin N, Charrow J, Deegan P, Durmus Tekce H, Duval F, Genge A, Gutmann L, Henderson RD, Hennermann JB, Hiwot T, Hughes D, Karaa A, Karam C, Kautzky-Willer A, Komaki H, Laforet P, Longo N, Malinova V, Mare R, Maxit C, Mengel E, Moggio MG, Molnar MJ, Mongini TE, Nadaj-Pakleza A, Nascimento Osorio A, Noury J-B, Oliveira ASB, Parman Y, Pena L, Remiche G, Sciacco M, Shieh PB, Smith C, Stulnig T, Taithe F, Tard C, Tarnopolsky M, Vorgerd M, Whitley C, Young P, Alonso-Perez J, Altemus P, Aube-Nathier A-C, Avelar JB, Bailey C, Bekircan-Kurt CE, Billy J, Boschi S, Brown KE, Carrera Garcia L, Chase L, Cirne H, Danjoux L, Davion J-B, DeArmey S, Fedotova E, Gandolfo E, Grosz Z, Guellec D, Guettsches A-K, Guglieri M, Hatcher E, Helms S, Hufgard-Leitner M, Klyushnikov SA, Langton J, Linkova L, Mavroudakis N, Mazurova S, Mori M, Muller-Miny L, Musumeci O, Nance CS, Natera-de Benito D, Neel R, Niizawa GA, Noll L, Ortega E, Pasnoor M, Pautot V, Potulska-Chromik A, Pugliese A, Questienne C, Ramos Lopes M, Reyes-Leiva D, Riedl M, Rugiero MF, Salort-Campana E, Sgobbi Souza PV, Sole G, Solera L, Souto Lopes S, Specht S, Statland J, Swenson A, Tan CY, Tizon S, van der Beek NAME, van Kooten HA, Wencel M, Wenninger S, Zagnoli F. . The Lancet Neurology 2021, 20(12), 1012-1026.
• Verdú-Díaz J, Alonso-Pérez J, Nuñez-Peralta C, Tasca G, Vissing J, Straub V, Fernández-Torrón R, Llauger J, Illa I, Díaz-Manera J. . Neurology 2020, 94(10), e1094-e1102.
• Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Lokken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kyncl M, Walter MC, Carlier RY. . Journal of Neurology 2020, 267(1), 45-56.
• Hogarth MW, Defour A, Lazarski C, Gallardo E, Diaz-Manera J, Partridge TA, Nagaraju K, Jaiswal JK. . Nature Communications 2020, 10, 2430.
• Nuñez-Peralta C, Alonso-Pérez J, Llauger J, Segovia S, Montesinos P, Belmonte I, Pedrosa I, Montiel E, Alonso-Jiménez A, Sánchez-González J, Martínez-Noguera A, Illa I, Díaz-Manera J. . Journal of Cachexia, Sarcopenia and Muscle 2020, 11(4), 1032-1046.
• Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Diaz-Manera J, Ehrstedt C, Rojas-Garcia R, Saenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Valipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vilchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao C-B, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. . Genetics in Medicine 2020, 22, 2029-2040.
• Moore U, Jacobs M, Fernandez-Torron R, LLauger Rossello J, Smith FE, James M, Mayhew A, Rufibach L, Carlier PG, Blamire AM, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Mendell JR, The Jain COS Consortium, Bushby K, Straub V, Diaz-Manera J. . Frontiers in Neurology 2020, 11, 613446.
• Alonso-Perez J, Segovia S, Dominguez-Gonzalez C, Olive M, Mendoza Grimon MD, Fernandez-Torron R, Lopez de Munain A, Munoz-Blanco JL, Ramos-Fransi A, Almendrote M, Illa I, Diaz-Manera J. . Medicina Clinica 2020, 154(3), 80-85.
• Suárez-Calvet X, Alonso-Pérez J, Castellví I, Carrasco-Rozas A, Fernández-Simón E, Zamora C, Martínez-Martínez L, Alonso-Jiménez A, Rojas-García R, Turón J, Querol L, de Luna N, Milena-Millan A, Corominas H, Castillo D, Cortés-Vicente E, Illa I, Gallardo E, Díaz-Manera J. . Neurology Neuroimmunology & Neuroinflammation 2020, 7(3), e694.
• Vissing J, Johnson K, Topf A, Nafissi S, Diaz-Manera J, French VM, Schindler RF, Sarathchandra P, Lokken N, Rinne S, Freund M, Decher N, Muller T, Duno M, Krag T, Brand T, Straub V. . Annals of Neurology 2019, 86(6), 832-843.
• Duchateau L, Martin-Aguilar L, Lleixa C, Cortese A, Dols-Icardo O, Cervera-Carles L, Pascual-Goni E, Diaz-Manera J, Callegari I, Franciotta D, Rojas-Garcia R, Illa I, Clarimon J, Querol L. . PLoS ONE 2019, 14(2), e0212647.
• Moore U, Jacobs M, James MK, Mayhew AG, Fernandez-Torron R, Feng J, Cnaan A, Eagle M, Bettinson K, Rufibach LE, Lofra RM, Blamire AM, Carlier PG, Mittal P, Lowes LP, Alfano L, Rose K, Duong T, Berry KM, Montiel-Morillo E, Pedrosa-Hernández I, Holsten S, Sanjak M, Ashida A, Sakamoto C, Tateishi T, Yajima H, Canal A, Ollivier G, DeCostre V, Mendez JB, Praxedes NSA, Thiele S, Siener C, Shierbecker J, Florence JM, Vandevelde B, DeWolf B, Hutchence M, Gee R, Prugel J, Maro E, Hilsden H, Lochmüller H, Grieben U, Spuler S, Rocha CT, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V. . Neurology 2019, 92(5), e461-e474.
• Pascual-Goni E, Martin-Aguilar L, Lleixa C, Martinez-Martinez L, Simon-Talero MJ, Diaz-Manera J, Cortes-Vicente E, Rojas-Garcia R, Moga E, Juarez C, Illa I, Querol L. . Scientific Reports 2019, 9(1), 6155.
• Gutierrez Gutierrez G, Diaz-Manera J, Almendrote M, Azriel S, Eulalio Barcena J, Cabezudo Garcia P, Camacho Salas A, Casanova Rodriguez C, Cobo AM, Diaz Guardiola P, Fernandez-Torron R, Gallano Petit MP, Garcia Pavia P, Gomez Gallego M, Gutierrez Martinez AJ, Jerico I, Kapetanovic Garcia S, Lopez de Munain Arregui A, Martorell L, Moris de la Tassa G, Moreno Zabaleta R, Munoz-Blanco JL, Olivar Roldan J, Pascual Pascual SI, Peinado Peinado R, Perez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolome A, Rubio Perez MA, Urtizberea JA, Zapata-Wainberg G, Gutierrez-Rivas E. . Medicina Clinica 2019, 153(2), 82.e1-82.e17.
• Gutierrez Gutierrez G, Diaz-Manera J, Almendrote M, Azriel S, Eulalio Barcena J, Cabezudo Garcia P, Camacho Salas A, Casanova Rodriguez C, Cobo AM, Diaz Guardiola P, Fernandez-Torron R, Gallano Petit MP, Garcia Pavia P, Gomez Gallego M, Gutierrez Martinez AJ, Jerico I, Kapetanovic Garcia S, Lopez de Munain Arregui A, Martorell L, Moris de la Tassa G, Moreno Zabaleta R, Munoz-Blanco JL, Olivar Roldan J, Pascual Pascual SI, Peinado Peinado R, Perez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolome A, Rubio Perez MA, Urtizberea JA, Zapata-Wainberg G, Gutierrez-Rivas E. . Neurologia 2019, 35(3), 185-206.
• Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Diaz-Manera J, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, Van Engelen B, Vohanka S, Lochmuller H. Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: Case study of a global collaboration for a rare disease (Orphanet Journal of Rare Diseases (2018) 13 (155) DOI: 10.1186/s13023-018-0889-0). Orphanet Journal of Rare Diseases 2019, 14(1), -.
• Duchateau L, Martin-Aguilar L, Lleixa C, Cortese A, Dols-Icardo O, Cervera-Carles L, Pascual-Goni E, Diaz-Manera J, Callegari I, Franciotta D, Rojas-Garcia R, Illa I, Clarimon J, Querol L. Correction: Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy (PLoS ONE (2019) 14: 2 (e0212647) DOI: 10.1371/journal.pone.0212647). PLoS ONE 2019, 14(4), -.
• Andersen H, Mantegazza R, Wang JJ, O'Brien F, Patra K, Jr Howard JF, The REGAIN Study Group. . Quality of Life Research 2019, 28, 2247-2254.
• Carreno-Gago L, Blazquez-Bermejo C, Diaz-Manera J, Camara Y, Gallardo E, Marti R, Torres-Torronteras J, Garcia-Arumi E. Identification and characterization of new RNASEH1 mutations associated with PEO syndrome and multiple mitochondrial DNA deletions. Frontiers in Genetics 2019, 10(JUN), -.
• Carrasco-Rozas A, Fernandez-Simon E, Lleixa MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, Nunez-Peralta C, Llauger Rossello J, Segovia S, De Luna N, Suarez-Calvet X, Illa I, Diaz-Manera J, Gallardo E. . Annals of Clinical and Translational Neurology 2019, 6(7), 1214-1224.
• Dominguez-Gonzalez C, Hernandez-Lain A, Rivas E, Hernandez-Voth A, Sayas Catalan J, Fernandez-Torron R, Fuiza-Luces C, Garcia Garcia J, Moris G, Olive M, Miralles F, Diaz-Manera J, Caballero C, Mendez-Ferrer B, Marti R, Garcia Arumi E, Badosa MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MA, Paradas C. . Orphanet Journal of Rare Diseases 2019, 14(1), 100.
• Muppidi s, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Nowak RJ, Andersen H, Casanovas C, de Bleecker JL, Vu TH, Mantegazza R, O'Brien FL, Wang JJ, Fujita KP, Jr Howard JF, for the Regain Study Group. . Muscle & Nerve 2019, 60(1), 14-24.
• Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nunez-Peralta C, Horlings CGC, Van Engelen BGM, Olive M, Gonzalez L, Verges-Gil E, Paradas C, Marquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum A-SV, Garcia-Sobrino T, Pardo J, Garcia-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martinez A, Marini-Bettolo C, Straub V, Gutierrez G, Martin MA, Moris G, Fernandez-Torron R, Lopez De Munain A, Cortes-Vicente E, Querol L, Rojas-Garcia R, Illa I, Diaz-Manera J. . Journal of Neurology, Neurosurgery and Psychiatry 2019, 90(5), 576-585.
• Chardon JW, Diaz-Manera J, Tasca G, Bonnemann CG, Gomez-Andres D, Heerschap A, Mercuri E, Muntoni F, Pichiecchio A, Ricci E, Walter MC, Hanna M, Jungbluth H, Morrow JM, Torron RF, Udd B, Vissing J, Yousry T, Quijano-Roy S, Straub V, Carlier RY. . Neuromuscular Disorders 2019, 29(11), 827-841.
• Fernandez-Simon E, Carrasco-Rozas A, Gallardo E, Figueroa-Bonaparte S, Belmonte I, Pedrosa I, Montiel E, Suarez-Calvet X, Alonso-Perez J, Segovia S, Nunez-Peralta C, Llauger J, Mayos M, Illa I, Spanish Pompe Study Group, Diaz-Manera J. . Scientific Reports 2019, 9(1), 2139.
• Fernandez-Simon E, Carrasco-Rozas A, Gallardo E, Gonzalez-Quereda L, Alonso-Perez J, Belmonte I, Pedrosa-Hernandez I, Montiel E, Segovia S, Suarez-Calvet X, Llauger J, Mayos M, Illa I, Barba-Romero MA, Barcena J, Paradas C, Carzorla MR, Creus C, Coll-Canti J, Diaz M, Dominguez C, Fernandez-Torron R, Garcia-Antelo MJ, Grau JM, Lopez de Munain A, Martinez-Garcia FA, Morgado Y, Moreno A, Moris G, Munoz-Blanco MA, Nascimento A, Parajua-Pozo JL, Querol L, Rojas R, Robledo-Strauss A, Rojas-Marcos I, Salazar JA, Uson M, Diaz-Manera J. . Molecular Genetics and Metabolism 2019, 128(1-2), 129-136.
• Lostal W, Urtizberea JA, Richard I, Alonso-Jimenez A, the Calpain 3 Study Group. . Neuromuscular Disorders 2018, 28(6), 540-549.
• Gonzalez-Quereda L, Gallardo E, Topf A, Alonso-Jimenez A, Straub V, Rodriguez MJ, Lleixa C, Illa I, Gallano P, Diaz-Manera J. . Neuromuscular Disorders 2018, 28(8), 633-638.
• Cabrera-Serrano M, Mavillard F, Biancalana V, Rivas E, Morar B, Hernandez-Lain A, Olive M, Muelas N, Khan E, Carvajal A, Quiroga P, Diaz-Manera J, Davis M, Avila R, Dominguez C, Romero NB, Vilchez JJ, Comas D, Laing NG, Laporte J, Kalaydjieva L, Paradas C. . Neurology 2018, 91(4), e339-e348.
• Siles AM, Martinez-Hernandez E, Araque J, Diaz-Manera J, Rojas-Garcia R, Gallardo E, Illa I, Graus F, Querol L. . Annals of Clinical and Translational Neurology 2018, 5(5), 559-569.
• Alonso-Jimenez A, Ramon C, Dols-Icardo O, Roig C, Gallardo E, Clarimon J, Nunez-Peralta C, Diaz-Manera J. . European Journal of Neurology 2018, 25(2), e25-e26.
• De Luna N, Suarez-Calvet X, Garicano M, Fernandez-Simon E, Rojas-Garc R, Diaz-Manera J, Querol L, Illa I, Gallardo E. . Journal of Neuropathology and Experimental Neurology 2018, 77(10), 964-972.
• Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Diaz-Manera J, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, Van Engelen B, Vohanka S, Lochmuller H. . Orphanet Journal of Rare Diseases 2018, 13(1), 155.
• Erdocia-Goni A, Alonso-Jimenez A, Ramon-Carbajo C, Garcia-Arumi E, Casquero P, Gallardo E, Diaz-Manera J. . Revista de Neurologia 2018, 66(8), 268-270.
• Diaz-Manera J, Sotoca-Fernandez J, Alonso-Jimenez A, Marzo ME, Gallardo E, Segovia-Simon S, Siles AM, Illa I, Pagonabarraga J. . Muscle and Nerve 2018, 58(1), E5-E8.
• Tasca G, Monforte M, Diaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Lokken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlova J, Magnano G, Walter MC, Quijano-Roy S, Carlier R-Y, van Engelen BGM, Vissing J, Straub V, Bonnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C. . Journal of Neurology, Neurosurgery, and Psychiatry 2018, 89(1), 72-77.
• GoMez-Andres D, Diaz-Manera J, Alejaldre A, Pulido-Valdeolivas I, GonzaLez-mera L, Olive M, Vilchez JJ, De Munain AL, Paradas C, Muelas N, SaNchez-MontaNez A, Alonso-Jimenez A, De la banda MGG, Dabaj I, Bonne G, Munell F, Carlier RY, Quijano-Roy S. . Muscle and Nerve 2018, 58(6), 812-817.
• Díaz-Manera J, Fernandez-Torron R, Rossello JL, James M, Mayhew A, Smith FE, Moore U, Blamire A, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Gala RS, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero HJ, Foster S, Peduto A, Sawyer AM, Hilsden H, Lochmuller L, Grieben U, Spuler S, Rocha CT, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V. . Journal of Neurology, Neurosurgery, and Psychiatry 2018, 89(10), 1071-1081.
• Pinol-Jurado P, Suarez-Calvet X, Fernandez-Simon E, Gallardo E, de la Oliva N, Martinez-Muriana A, Gomez-Galvez P, Escudero LM, Perez-Peiro M, Wollin L, de Luna N, Navarro X, Illa I, Diaz-Manera J. . Cell Death and Disease 2018, 9, 776.
• Diaz-Manera J, Luna S, Roig C. . Current Opinion in Neurology 2018, 31(5), 618-627.
• Figueroa-Bonaparte S, Llauger J, Segovia S, Belmonte I, Pedrosa I, Montiel E, Montesinos P, Sanchez-Gonzalez J, Alonso-Jimenez A, Gallardo E, Illa I, Spanish Pompe group, Diaz-Manera J. . Scientific Reports 2018, 8(1), 10898.
• Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, Mayhew A, Rufibach L, Mittal P, Eagle M, Cnaan A, Carlier PG, Blamire A, Hilsden H, Lochmüller H, Grieben U, Spuler S, Rocha CT, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel J-Y, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V. . Journal of Neurology, Neurosurgery and Psychiatry 2018, 89(11), 1224-1226.
• Cortes-Vicente E, Rojas-Garcia R, Diaz-Manera J, Querol L, Casasnovas C, Guerrero-Sola A, Munoz-Blanco JL, Barcena-Llona JE, Marquez-Infante C, Pardo J, Martinez-Fernandez EM, Uson M, Oliva-Nacarino P, Sevilla T, Illa I. . Annals of Clinical and Translational Neurology 2018, 5(6), 710-716.
• Marsolier J, Laforet P, Pegoraro E, Vissing J, Richard I, Sarcoglycanopathies Working Group. . Neuromuscular Disorders 2017, 27(7), 683-692.
• Querol L, Siles AM, Alba-Rovira R, Jauregui A, Devaux J, Faivre-Sarrailh C, Araque J, Rojas-Garcia R, Diaz-Manera J, Cortes-Vicente E, Nogales-Gadea G, Navas-Madronal M, Gallardo E, Illa I. . Scientific Reports 2017, 7(1), 14411.
• Martinez-Martinez L, Lleixa MC, Boera-Carnicero G, Cortese A, Devaux J, Siles A, Rajabally Y, Martinez-Pineiro A, Carvajal A, Pardo J, Delmont E, Attarian S, Diaz-Manera J, Callegari I, Marchioni E, Franciotta D, Benedetti L, Lauria G, de la Calle Martin O, Juarez C, Illa I, Querol L. . Journal of Neuroinflammation 2017, 14(1), 224.
• Koeks Z, Bladen CL, Salgado D, Van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barisic N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, Van Den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Diaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topalolu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Beroud C, Verschuuren JJ, Lochmuller H. . Journal of Neuromuscular Diseases 2017, 4(4), 293-306.
• Rodriguez MA, Barquero LMDR, Ortez CI, Jou C, Vigo M, Medina J, Febrer A, Ramon-Krauel M, Diaz-Manera J, Olive M, Gonzalez-Mera L, Nascimento A, Jimenez-Mallebrera C. . Frontiers in Aging Neuroscience 2017, 9, 268.
• Cortes-Vicente E, Pradas J, Marin-lahoz J, De Luna N, Clarimon J, Turon-Sans J, Gelpi E, Diaz-Manera J, Illa I, Rojas-Garcia R. . Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 2017, 18(5-6), 333-340.
• van der Ploeg AT, Kruijshaar ME, Toscano A, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rosler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B, On behalf of the European Pompe Consortium. . European Journal of Neurology 2017, 24(6), 768-e31.
• De Luna N, Suarez-Calvet X, Lleixa C, Diaz-Manera J, Olive M, Illa I, Gallardo E. . Scientific Reports 2017, 7(1), 8595.
• Natera-de Benito D, Topf A, Vilchez JJ, Gonzalez-Quereda L, Dominguez-Carral J, Diaz-Manera J, Ortez C, Bestue M, Gallano P, Dusl M, Abicht A, Muller JS, Senderek J, Garcia-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodriguez Cruz PM, Camacho A, Jimenez E, Miranda-Herrero MC, Santana-Artiles A, Garcia-Campos O, Dominguez-Rubio R, Olive M, Colomer J, Beeson D, Lochmuller H, Nascimento A. . Neuromuscular Disorders 2017, 27(12), 1087-1098.
• Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM. . Journal of Neurology 2017, 264(7), 1334-1342.
• Pinol-Jurado P, Gallardo E, de Luna N, Suarez-Calvet X, Sanchez-Riera C, Fernandez-Simon E, Gomis C, Illa I, Diaz-Manera J. . American Journal of Pathology 2017, 187(8), 1814-1827.
• Suarez-Calvet X, Gallardo E, Pinal-Fernandez I, De Luna N, Lleixa C, Diaz-Manera J, Rojas-Garcia R, Castellvi I, Martinez MA, Grau JM, Selva-O'Callaghan A, Illa I. . Arthritis Research and Therapy 2017, 19(1), 174.
• Howard JF, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Muppidi S, Nowak RJ, O'Brien F, Wang J-J, Mantegazza R, in collaboration with the REGAIN Study Group. . The Lancet Neurology 2017, 16(12), 976-986.
• Cruz S, Figueroa-Bonaparte S, Gallardo E, De Becdelievre A, Gartioux C, Allamand V, Pinol P, Garcia MAR, Jimenez-Mallebriera C, Llauger J, Gonzalez-Rodriguez L, Cortes-Vicente E, Illa I, Diaz-Manera J. . Journal of Neuromuscular Diseases 2016, 3(2), 267-274.
• Cortes-Vicente E, Gallardo E, Martinez MA, Diaz-Manera J, Querol L, Rojas-Garcia R, Illa I. . JAMA Neurology 2016, 73(9), 1099-1104.
• Huijbers MG, Vink A-FD, Niks EH, Westhuis RH, van Zwet EW, de Meel RH, Rojas-Garcia R, Diaz-Manera J, Kuks JB, Klooster R, Straasheijm K, Evoli A, Illa I, van der Maarel SM, Verschuuren JJ. . Journal of Neuroimmunology 2016, 291, 82-88.
• Diaz-Manera J, Alejaldre A, Gonzalez L, Olive M, Gomez-Andres D, Muelas N, Vilchez JJ, Llauger J, Carbonell P, Marquez-Infante C, Fernandez-Torron R, Poza JJ, Lopez de Munain A, Gonzalez-Quereda L, Mirabet S, Clarimon J, Gallano P, Rojas-Garcia R, Gallardo E, Illa I. . Neuromuscular Disorders 2016, 26(1), 33-40.
• Figueroa-Bonaparte S, Segovia S, Llauger J, Belmonte I, Pedrosa I, Alejaldre A, Mayos M, Suarez-Cuartin G, Gallardo E, Illa I, Diaz-Manera J, Spanish Pompe Study Group. . PLoS ONE 2016, 11(10), e0163493.
• Garibaldi M, Diaz-Manera J, Gallardo E, Antonini G. . Neurology 2016, 86(24), e250-e251.
• Gomez-Anson B, Roman E, De Bobadilla RF, Pires-Encuentra P, Diaz-Manera J, Nuez F, Martinez-Horta S, Vives-Gilabert Y, Pagonabarraga J, Kulisevsky J, Cordoba J, Guarner C, Soriano G. . PLoS ONE 2015, 10(3), e0118930.
• Diaz-Manera J, Llauger J, Gallardo E, Illa I. . Acta Myologica 2015, 34(2-3), 95-108.
• Ramos-Fransi A, Rojas-Garcia R, Segovia S, Marquez-Infante C, Pardo J, Coll-Canti J, Jerico I, Illa I, Alberti Aguilo MA, Bataller Alberola L, Berciano Blanco J, Casasnovas Pons C, Diaz-Manera J, Fernandez Torron MR, Garcia Sobrino T, Gomez Caravaca MT, Guerrero Sola A, Gutierrez Gutierrez G, Lopez de Munain Arregui A, Martinez Pineiro A, Mendoza Grimon MD, Munoz Blanco JL, Pelayo Negro AL, Querol L, Sevilla Mantecon T. . European Journal of Neurology 2015, 22(7), 1056-1061.
• Querol L, Rojas-Garcia R, Diaz-Manera J, Barcena J, Pardo J, Ortega-Moreno A, Sedano MJ, Sero-Ballesteros L, Carvajal A, Ortiz N, Gallardo E, Illa I. . Neurology: Neuroimmunology and NeuroInflammation 2015, 2(5), e149.
• Camara Y, Carreno-Gago L, Martin MA, Melia MJ, Blazquez A, Delmiro A, Garrabou G, Moren C, Diaz-Manera J, Gallardo E, Bornstein B, Lopez-Gallardo E, Hernandez-Lain A, San Millan B, Cancho E, Rodriguez-Vico JS, Marti R, Garcia-Arumi E. . Neurology 2015, 84(22), 2286-2288.
• Gutierrez-Rivas E, Bautista J, Vilchez JJ, Muelas N, Diaz-Manera J, Illa I, Martinez-Arroyo A, Olive M, Sanz I, Arpa J, Fernandez-Torron R, Lopez de Munain A, Jimenez L, Solera J, Lukacs Z. . Neuromuscular Disorders 2015, 25(7), 548-553.
• Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Milic Rasic V, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Ayşe Karaduman A, Topaloğlu H, ElSherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Beroud C, Lochmüller H. . Human Mutation 2015, 36(4), 395-402.
• Osuna MT, Querol L, Olivas-Chacon CI, Lejarreta-Andres S, Robert J, Ailouti-Caballero N, Ramos-Duran L, Diaz-Manera J, Belvis R. . Revista de Neurologia 2015, 61(11), 527-528.
• Paco S, Casserras T, Rodriguez MA, Jou C, Puigdelloses M, Ortez CI, Diaz-Manera J, Gallardo E, Colomer J, Nascimento A, Kalko SG, Jimenez-Mallebrera C. . PLoS ONE 2015, 10(12), e0145107.
• Suarez-Calvet X, Gallardo E, Nogales-Gadea G, Querol L, Navas M, Diaz-Manera J, Rojas-Garcia R, Illa I. . Journal of Pathology 2014, 233(3), 258-268.
• Nogales-Gadea G, Ramos-Fransi A, Suarez-Calvet X, Navas M, Rojas-Garcia R, Mosquera JL, Diaz-Manera J, Querol L, Gallardo E, Illa I. . PLoS ONE 2014, 9(3), e91927.
• Gallardo E, Martinez-Hernandez E, Titulaer MJ, Huijbers MG, Martinez MA, Ramos A, Querol L, Diaz-Manera J, Rojas-Garcia R, Hayworth CR, Verschuuren JJ, Balice-Gordon R, Dalmau J, Illa I. . Autoimmunity Reviews 2014, 13(10), 1003-1007.
• Diaz-Manera J, Alejaldre A, Llauger J, Mirabet S, Rojas-Garcia R, Ramos-Fransi A, Gallardo E, Illa I. . European Journal of Neurology 2014, 21(6), e51-e52.
• Gallardo E, Ankala A, Nunez-Alvarez Y, Hegde M, Diaz-Manera J, Luna ND, Pastoret A, Suelves M, Illa I. . Human Mutation 2014, 35(8), 990-997.
• Querol L, Nogales-Gadea G, Rojas-Garcia R, Diaz-Manera J, Pardo J, Ortega-Moreno A, Sedano MJ, Gallardo E, Berciano J, Blesa R, Dalmau J, Illa I. . Neurology 2014, 82(10), 879-886.
• Diaz-Manera J, Querol L, Alejaldre A, Rojas-Garcia R, Ramos-Fransi A, Gallardo E, Illa I. . Journal of Human Genetics 2014, 59(8), 465-466.