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141.
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Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study. [electronic resource] by
- Pena, Loren D M
- Barohn, Richard J
- Byrne, Barry J
- Desnuelle, Claude
- Goker-Alpan, Ozlem
- Ladha, Shafeeq
- Laforêt, Pascal
- Mengel, Karl Eugen
- Pestronk, Alan
- Pouget, Jean
- Schoser, Benedikt
- Straub, Volker
- Trivedi, Jaya
- Van Damme, Philip
- Vissing, John
- Young, Peter
- Kacena, Katherine
- Shafi, Raheel
- Thurberg, Beth L
- Culm-Merdek, Kerry
- van der Ploeg, Ans T
Producer: 20200601
In:
Neuromuscular disorders : NMD vol. 29
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142.
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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. [electronic resource] by
- Böhm, Johann
- Biancalana, Valérie
- Malfatti, Edoardo
- Dondaine, Nicolas
- Koch, Catherine
- Vasli, Nasim
- Kress, Wolfram
- Strittmatter, Matthias
- Taratuto, Ana Lia
- Gonorazky, Hernan
- Laforêt, Pascal
- Maisonobe, Thierry
- Olivé, Montse
- Gonzalez-Mera, Laura
- Fardeau, Michel
- Carrière, Nathalie
- Clavelou, Pierre
- Eymard, Bruno
- Bitoun, Marc
- Rendu, John
- Fauré, Julien
- Weis, Joachim
- Mandel, Jean-Louis
- Romero, Norma B
- Laporte, Jocelyn
Producer: 20150318
In:
Brain : a journal of neurology vol. 137
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143.
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High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations. [electronic resource] by
- Thevenon, Julien
- Laurent, Gabriel
- Ader, Flavie
- Laforêt, Pascal
- Klug, Didier
- Duva Pentiah, Anju
- Gouya, Laurent
- Maurage, Claude Alain
- Kacet, Salem
- Eicher, Jean-Christophe
- Albuisson, Juliette
- Desnos, Michel
- Bieth, Eric
- Duboc, Denis
- Martin, Laurent
- Réant, Patricia
- Picard, François
- Bonithon-Kopp, Claire
- Gautier, Elodie
- Binquet, Christine
- Thauvin-Robinet, Christel
- Faivre, Laurence
- Bouvagnet, Patrice
- Charron, Philippe
- Richard, Pascale
Producer: 20180110
In:
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology vol. 19
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144.
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Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity. [electronic resource] by
- Claeys, Kristl G
- Pellissier, Jean-François
- Garcia-Bragado, Federico
- Weis, Joachim
- Urtizberea, Andoni
- Poza, Juan-Jose
- Cobo, Ana-Maria
- Stoltenburg, Gisela
- Figarella-Branger, Dominique
- Willems, Patrick J
- Depuydt, Christophe E
- Kleiner, Wolfgang
- Pouget, Jean
- Piraud, Monique
- Brochier, Guy
- Romero, Norma B
- Fardeau, Michel
- Goebel, Hans H
- Bönnemann, Carsten G
- Voit, Thomas
- Eymard, Bruno
- Laforêt, Pascal
Producer: 20110121
In:
Neuromuscular disorders : NMD vol. 20
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145.
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High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibody. [electronic resource] by
- Allenbach, Yves
- Keraen, Jeremy
- Bouvier, Anne-Marie
- Jooste, Valérie
- Champtiaux, Nicolas
- Hervier, Baptiste
- Schoindre, Yoland
- Rigolet, Aude
- Gilardin, Laurent
- Musset, Lucile
- Charuel, Jean-Luc
- Boyer, Olivier
- Jouen, Fabienne
- Drouot, Laurent
- Martinet, Jeremie
- Stojkovic, Tanya
- Eymard, Bruno
- Laforêt, Pascal
- Behin, Antony
- Salort-Campana, Emmanuelle
- Fain, Olivier
- Meyer, Alain
- Schleinitz, Nicolas
- Mariampillai, Kuberaka
- Grados, Aurelie
- Benveniste, Olivier
Producer: 20170605
In:
Brain : a journal of neurology vol. 139
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146.
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The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study. [electronic resource] by
- Querin, Giorgia
- El Mendili, Mohamed-Mounir
- Lenglet, Timothée
- Behin, Anthony
- Stojkovic, Tanya
- Salachas, François
- Devos, David
- Le Forestier, Nadine
- Del Mar Amador, Maria
- Debs, Rabab
- Lacomblez, Lucette
- Meininger, Vincent
- Bruneteau, Gaëlle
- Cohen-Adad, Julien
- Lehéricy, Stéphane
- Laforêt, Pascal
- Blancho, Sophie
- Benali, Habib
- Catala, Martin
- Li, Menghan
- Marchand-Pauvert, Véronique
- Hogrel, Jean-Yves
- Bede, Peter
- Pradat, Pierre-François
Producer: 20191211
In:
NeuroImage. Clinical vol. 21
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Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. [electronic resource] by
- Mochel, Fanny
- Schiffmann, Raphael
- Steenweg, Marjan E
- Akman, Hasan O
- Wallace, Mary
- Sedel, Frédéric
- Laforêt, Pascal
- Levy, Richard
- Powers, J Michael
- Demeret, Sophie
- Maisonobe, Thierry
- Froissart, Roseline
- Da Nobrega, Bruno Barcelos
- Fogel, Brent L
- Natowicz, Marvin R
- Lubetzki, Catherine
- Durr, Alexandra
- Brice, Alexis
- Rosenmann, Hanna
- Barash, Varda
- Kakhlon, Or
- Gomori, J Moshe
- van der Knaap, Marjo S
- Lossos, Alexander
Producer: 20121214
In:
Annals of neurology vol. 72
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148.
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Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase. [electronic resource] by
- Puzzo, Francesco
- Colella, Pasqualina
- Biferi, Maria G
- Bali, Deeksha
- Paulk, Nicole K
- Vidal, Patrice
- Collaud, Fanny
- Simon-Sola, Marcelo
- Charles, Severine
- Hardet, Romain
- Leborgne, Christian
- Meliani, Amine
- Cohen-Tannoudji, Mathilde
- Astord, Stephanie
- Gjata, Bernard
- Sellier, Pauline
- van Wittenberghe, Laetitia
- Vignaud, Alban
- Boisgerault, Florence
- Barkats, Martine
- Laforet, Pascal
- Kay, Mark A
- Koeberl, Dwight D
- Ronzitti, Giuseppe
- Mingozzi, Federico
Producer: 20180717
In:
Science translational medicine vol. 9
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149.
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Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. [electronic resource] by
- Michot, Caroline
- Hubert, Laurence
- Romero, Norma B
- Gouda, Amr
- Mamoune, Asmaa
- Mathew, Suja
- Kirk, Edwin
- Viollet, Louis
- Rahman, Shamima
- Bekri, Soumeya
- Peters, Heidi
- McGill, James
- Glamuzina, Emma
- Farrar, Michelle
- von der Hagen, Maya
- Alexander, Ian E
- Kirmse, Brian
- Barth, Magalie
- Laforet, Pascal
- Benlian, Pascale
- Munnich, Arnold
- JeanPierre, Marc
- Elpeleg, Orly
- Pines, Ophry
- Delahodde, Agnès
- de Keyzer, Yves
- de Lonlay, Pascale
Producer: 20130405
In:
Journal of inherited metabolic disease vol. 35
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Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. [electronic resource] by
- Bauché, Stéphanie
- Vellieux, Geoffroy
- Sternberg, Damien
- Fontenille, Marie-Joséphine
- De Bruyckere, Elodie
- Davoine, Claire-Sophie
- Brochier, Guy
- Messéant, Julien
- Wolf, Lucie
- Fardeau, Michel
- Lacène, Emmanuelle
- Romero, Norma
- Koenig, Jeanine
- Fournier, Emmanuel
- Hantaï, Daniel
- Streichenberger, Nathalie
- Manel, Veronique
- Lacour, Arnaud
- Nadaj-Pakleza, Aleksandra
- Sukno, Sylvie
- Bouhour, Françoise
- Laforêt, Pascal
- Fontaine, Bertrand
- Strochlic, Laure
- Eymard, Bruno
- Chevessier, Frédéric
- Stojkovic, Tanya
- Nicole, Sophie
Producer: 20180418
In:
Journal of neurology vol. 264
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151.
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A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. [electronic resource] by
- Herson, Serge
- Hentati, Faycal
- Rigolet, Aude
- Behin, Anthony
- Romero, Norma B
- Leturcq, France
- Laforêt, Pascal
- Maisonobe, Thierry
- Amouri, Rim
- Haddad, Hafedh
- Audit, Muriel
- Montus, Marie
- Masurier, Carole
- Gjata, Bernard
- Georger, Christophe
- Cheraï, Mustapha
- Carlier, Pierre
- Hogrel, Jean-Yves
- Herson, Ariane
- Allenbach, Yves
- Lemoine, François M
- Klatzmann, David
- Sweeney, H Lee
- Mulligan, Richard C
- Eymard, Bruno
- Caizergues, Didier
- Voït, Thomas
- Benveniste, Olivier
Producer: 20120427
In:
Brain : a journal of neurology vol. 135
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152.
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FSHD1 and FSHD2 form a disease continuum. [electronic resource] by
- Sacconi, Sabrina
- Briand-Suleau, Audrey
- Gros, Marilyn
- Baudoin, Christian
- Lemmers, Richard J L F
- Rondeau, Sophie
- Lagha, Nadira
- Nigumann, Pilvi
- Cambieri, Chiara
- Puma, Angela
- Chapon, Françoise
- Stojkovic, Tanya
- Vial, Christophe
- Bouhour, Françoise
- Cao, Michelangelo
- Pegoraro, Elena
- Petiot, Philippe
- Behin, Anthony
- Marc, Bras
- Eymard, Bruno
- Echaniz-Laguna, Andoni
- Laforet, Pascal
- Salviati, Leonardo
- Jeanpierre, Marc
- Cristofari, Gaël
- van der Maarel, Silvère M
Producer: 20191218
In:
Neurology vol. 92
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153.
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Hereditary myopathy with early respiratory failure: occurrence in various populations. [electronic resource] by
- Palmio, Johanna
- Evilä, Anni
- Chapon, Françoise
- Tasca, Giorgio
- Xiang, Fengqing
- Brådvik, Björn
- Eymard, Bruno
- Echaniz-Laguna, Andoni
- Laporte, Jocelyn
- Kärppä, Mikko
- Mahjneh, Ibrahim
- Quinlivan, Rosaline
- Laforêt, Pascal
- Damian, Maxwell
- Berardo, Andres
- Taratuto, Ana Lia
- Bueri, Jose Antonio
- Tommiska, Johanna
- Raivio, Taneli
- Tuerk, Matthias
- Gölitz, Philipp
- Chevessier, Frederic
- Sewry, Caroline
- Norwood, Fiona
- Hedberg, Carola
- Schröder, Rolf
- Edström, Lars
- Oldfors, Anders
- Hackman, Peter
- Udd, Bjarne
Producer: 20140403
In:
Journal of neurology, neurosurgery, and psychiatry vol. 85
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154.
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Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α. [electronic resource] by
- Kishnani, Priya
- Tarnopolsky, Mark
- Roberts, Mark
- Sivakumar, Kumarswamy
- Dasouki, Majed
- Dimachkie, Mazen M
- Finanger, Erika
- Goker-Alpan, Ozlem
- Guter, Karl A
- Mozaffar, Tahseen
- Pervaiz, Muhammad Ali
- Laforet, Pascal
- Levine, Todd
- Adera, Matthews
- Lazauskas, Richard
- Sitaraman, Sheela
- Khanna, Richie
- Benjamin, Elfrida
- Feng, Jessie
- Flanagan, John J
- Barth, Jay
- Barlow, Carrolee
- Lockhart, David J
- Valenzano, Kenneth J
- Boudes, Pol
- Johnson, Franklin K
- Byrne, Barry
Producer: 20180219
In:
Molecular therapy : the journal of the American Society of Gene Therapy vol. 25
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155.
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A randomized study of alglucosidase alfa in late-onset Pompe's disease. [electronic resource] by
- van der Ploeg, Ans T
- Clemens, Paula R
- Corzo, Deyanira
- Escolar, Diana M
- Florence, Julaine
- Groeneveld, Geert Jan
- Herson, Serge
- Kishnani, Priya S
- Laforet, Pascal
- Lake, Stephen L
- Lange, Dale J
- Leshner, Robert T
- Mayhew, Jill E
- Morgan, Claire
- Nozaki, Kenkichi
- Park, Dorothy J
- Pestronk, Alan
- Rosenbloom, Barry
- Skrinar, Alison
- van Capelle, Carine I
- van der Beek, Nadine A
- Wasserstein, Melissa
- Zivkovic, Sasa A
Producer: 20100422
In:
The New England journal of medicine vol. 362
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156.
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Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin. [electronic resource] by
- Allenbach, Yves
- Drouot, Laurent
- Rigolet, Aude
- Charuel, Jean Luc
- Jouen, Fabienne
- Romero, Norma B
- Maisonobe, Thierry
- Dubourg, Odile
- Behin, Anthony
- Laforet, Pascal
- Stojkovic, Tania
- Eymard, Bruno
- Costedoat-Chalumeau, Nathalie
- Campana-Salort, Emmanuelle
- Tournadre, Anne
- Musset, Lucile
- Bader-Meunier, Brigitte
- Kone-Paut, Isabelle
- Sibilia, Jean
- Servais, Laurent
- Fain, Olivier
- Larroche, Claire
- Diot, Elisabeth
- Terrier, Benjamin
- De Paz, Raphael
- Dossier, Antoine
- Menard, Dominique
- Morati, Chafika
- Roux, Marielle
- Ferrer, Xavier
- Martinet, Jeremie
- Besnard, Sophie
- Bellance, Remi
- Cacoub, Patrice
- Arnaud, Laurent
- Grosbois, Bernard
- Herson, Serge
- Boyer, Olivier
- Benveniste, Olivier
Producer: 20140617
In:
Medicine vol. 93
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157.
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. [electronic resource] by
- Biancalana, Valérie
- Scheidecker, Sophie
- Miguet, Marguerite
- Laquerrière, Annie
- Romero, Norma B
- Stojkovic, Tanya
- Abath Neto, Osorio
- Mercier, Sandra
- Voermans, Nicol
- Tanner, Laura
- Rogers, Curtis
- Ollagnon-Roman, Elisabeth
- Roper, Helen
- Boutte, Célia
- Ben-Shachar, Shay
- Lornage, Xavière
- Vasli, Nasim
- Schaefer, Elise
- Laforet, Pascal
- Pouget, Jean
- Moerman, Alexandre
- Pasquier, Laurent
- Marcorelle, Pascale
- Magot, Armelle
- Küsters, Benno
- Streichenberger, Nathalie
- Tranchant, Christine
- Dondaine, Nicolas
- Schneider, Raphael
- Gasnier, Claire
- Calmels, Nadège
- Kremer, Valérie
- Nguyen, Karine
- Perrier, Julie
- Kamsteeg, Erik Jan
- Carlier, Pierre
- Carlier, Robert-Yves
- Thompson, Julie
- Boland, Anne
- Deleuze, Jean-François
- Fardeau, Michel
- Zanoteli, Edmar
- Eymard, Bruno
- Laporte, Jocelyn
Producer: 20180613
In:
Acta neuropathologica vol. 134
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158.
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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study. [electronic resource] by
- Dogan, Celine
- De Antonio, Marie
- Hamroun, Dalil
- Varet, Hugo
- Fabbro, Marianne
- Rougier, Felix
- Amarof, Khadija
- Arne Bes, Marie-Christine
- Bedat-Millet, Anne-Laure
- Behin, Anthony
- Bellance, Remi
- Bouhour, Françoise
- Boutte, Celia
- Boyer, François
- Campana-Salort, Emmanuelle
- Chapon, Françoise
- Cintas, Pascal
- Desnuelle, Claude
- Deschamps, Romain
- Drouin-Garraud, Valerie
- Ferrer, Xavier
- Gervais-Bernard, Helene
- Ghorab, Karima
- Laforet, Pascal
- Magot, Armelle
- Magy, Laurent
- Menard, Dominique
- Minot, Marie-Christine
- Nadaj-Pakleza, Aleksandra
- Pellieux, Sybille
- Pereon, Yann
- Preudhomme, Marguerite
- Pouget, Jean
- Sacconi, Sabrina
- Sole, Guilhem
- Stojkovich, Tanya
- Tiffreau, Vincent
- Urtizberea, Andoni
- Vial, Christophe
- Zagnoli, Fabien
- Caranhac, Gilbert
- Bourlier, Claude
- Riviere, Gerard
- Geille, Alain
- Gherardi, Romain K
- Eymard, Bruno
- Puymirat, Jack
- Katsahian, Sandrine
- Bassez, Guillaume
Producer: 20160711
In:
PloS one vol. 11
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159.
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Multiple phenotypes in phosphoglucomutase 1 deficiency. [electronic resource] by
- Tegtmeyer, Laura C
- Rust, Stephan
- van Scherpenzeel, Monique
- Ng, Bobby G
- Losfeld, Marie-Estelle
- Timal, Sharita
- Raymond, Kimiyo
- He, Ping
- Ichikawa, Mie
- Veltman, Joris
- Huijben, Karin
- Shin, Yoon S
- Sharma, Vandana
- Adamowicz, Maciej
- Lammens, Martin
- Reunert, Janine
- Witten, Anika
- Schrapers, Esther
- Matthijs, Gert
- Jaeken, Jaak
- Rymen, Daisy
- Stojkovic, Tanya
- Laforêt, Pascal
- Petit, François
- Aumaître, Olivier
- Czarnowska, Elzbieta
- Piraud, Monique
- Podskarbi, Teodor
- Stanley, Charles A
- Matalon, Reuben
- Burda, Patricie
- Seyyedi, Soraya
- Debus, Volker
- Socha, Piotr
- Sykut-Cegielska, Jolanta
- van Spronsen, Francjan
- de Meirleir, Linda
- Vajro, Pietro
- DeClue, Terry
- Ficicioglu, Can
- Wada, Yoshinao
- Wevers, Ron A
- Vanderschaeghe, Dieter
- Callewaert, Nico
- Fingerhut, Ralph
- van Schaftingen, Emile
- Freeze, Hudson H
- Morava, Eva
- Lefeber, Dirk J
- Marquardt, Thorsten
Producer: 20140211
In:
The New England journal of medicine vol. 370
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Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy. [electronic resource] by
- Alonso-Jimenez, Alicia
- Kroon, Rosemarie H M J M
- Alejaldre-Monforte, Aida
- Nuñez-Peralta, Claudia
- Horlings, Corinne G C
- van Engelen, Baziel G M
- Olivé, Montse
- González, Laura
- Verges-Gil, Enric
- Paradas, Carmen
- Márquez, Celedonio
- Garibaldi, Matteo
- Gallano, Pía
- Rodriguez, Maria José
- Gonzalez-Quereda, Lidia
- Dominguez Gonzalez, Cristina
- Vissing, John
- Fornander, Freja
- Eisum, Anne-Sofie Vibæk
- García-Sobrino, Tania
- Pardo, Julio
- García-Figueiras, Roberto
- Muelas, Nuria
- Vilchez, Juan Jesús
- Kapetanovic, Solange
- Tasca, Giorgio
- Monforte, Mauro
- Ricci, Enzo
- Gomez, María Teresa
- Bevilacqua, Jorge Alfredo
- Diaz-Jara, Jorge
- Zamorano, Ivonne Ingrid
- Carlier, Robert Yves
- Laforet, Pascal
- Pelayo-Negro, Ana
- Ramos-Fransi, Alba
- Martínez, Amaia
- Marini-Bettolo, Chiara
- Straub, Volker
- Gutiérrez, Gerardo
- Stojkovic, Tanya
- Martín, María Asunción
- Morís, Germán
- Fernández-Torrón, Roberto
- Lopez De Munaín, Adolfo
- Cortes-Vicente, Elena
- Querol, Luis
- Rojas-García, Ricardo
- Illa, Isabel
- Diaz-Manera, Jordi
Producer: 20200319
In:
Journal of neurology, neurosurgery, and psychiatry vol. 90
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