Carmen Paradas

Affiliations
  • Neuromuscular Unit, Department of Neurology, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, 41013 Sevilla, Spain.

Publications (43)

Cautionary note on the use of

BioTechniques
Avec: Alejandro Gil-Gálvez , Pilar Carbonell-Corvillo , Carmen Paradas , Antonio Miranda-Vizuete

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Journal of neurology, neurosurgery, and psychiatry
Avec: Alicia Alonso-Jimenez , Rosemarie H M J M Kroon , Aida Alejaldre-Monforte , Claudia Nuñez-Peralta , Corinne G C Horlings , Baziel G M van Engelen , Montse Olivé , Laura González , Enric Verges-Gil , Carmen Paradas , Celedonio Márquez , Matteo Garibaldi , Pía Gallano , Maria José Rodriguez , Lidia Gonzalez-Quereda , Cristina Dominguez Gonzalez , John Vissing , Freja Fornander , Anne-Sofie Vibæk Eisum , Tania García-Sobrino , Julio Pardo , Roberto García-Figueiras , Nuria Muelas , Juan Jesús Vilchez , Solange Kapetanovic , Giorgio Tasca , Mauro Monforte , Enzo Ricci , María Teresa Gomez , Jorge Alfredo Bevilacqua , Jorge Diaz-Jara , Ivonne Ingrid Zamorano , Robert Yves Carlier , Pascal Laforet , Ana Pelayo-Negro , Alba Ramos-Fransi , Amaia Martínez , Chiara Marini-Bettolo , Volker Straub , Gerardo Gutiérrez , Tanya Stojkovic , María Asunción Martín , Germán Morís , Roberto Fernández-Torrón , Adolfo Lopez De Munaín , Elena Cortes-Vicente , Luis Querol , Ricardo Rojas-García , Isabel Illa , Jordi Diaz-Manera

Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.

Clinical genetics
Avec: Fabiola Mavillard , Emilia Servián-Morilla , Eloy Rivas , Carmen Paradas , Macarena Cabrera-Serrano

Erratum: Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.

Neurology. Genetics
Avec: John Dou , Kelly Bakulski , Kai Guo , Junguk Hur , Lili Zhao , Sara Saez-Atienzar , Ali Stark , Ruth Chia , Alberto García-Redondo , Ricardo Rojas-Garcia , Juan Francisco Vázquez Costa , Ruben Fernandez Santiago , Sara Bandres-Ciga , Pilar Gómez-Garre , Maria Teresa Periñán , Pablo Mir , Jordi Pérez-Tur , Fernando Cardona , Manuel Menendez-Gonzalez , Javier Riancho , Daniel Borrego-Hernández , Lucia Galán-Dávila , Jon Infante Ceberio , Pau Pastor , Carmen Paradas , Oriol Dols-Icardo , Auteur inconnu , Bryan J Traynor , Eva L Feldman , Stephen A Goutman

Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche.

Molecular therapy. Nucleic acids
Avec: Jose L Ortiz-Vitali , Jianbo Wu , Nasa Xu , Annie W Shieh , Nima Niknejad , Megumi Takeuchi , Carmen Paradas , Chunru Lin , Hamed Jafar-Nejad , Robert S Haltiwanger , Sidney H Wang , Radbod Darabi

Loss of the matrix metalloproteinase-10 causes premature features of aging in satellite cells.

Frontiers in cell and developmental biology
Avec: Miriam Bobadilla Muñoz , Josune Orbe , Gloria Abizanda , Florencio J D Machado , Amaia Vilas , Asier Ullate-Agote , Leire Extramiana , Arantxa Baraibar Churio , Xabier L Aranguren , Gloria Cantero , Neira Sáinz Amillo , José Antonio Rodríguez , Luis Ramos García , Juan Pablo Romero Riojas , Ainara Vallejo-Illarramendi , Carmen Paradas , Adolfo López de Munain , José Antonio Páramo , Felipe Prósper , Ana Pérez-Ruiz

Decoding the muscle transcriptome of patients with late onset Pompe disease reveals markers of disease progression.

Brain : a journal of neurology
Avec: Alexandra Monceau , Rasya Gokul Nath , Xavier Suárez-Calvet , Olimpia Musumeci , Antonio Toscano , Biruta Kierdaszuk , Anna Kostera-Pruszczyk , Cristina Domínguez-González , Aurelio Hernández-Lain , Carmen Paradas , Eloy Rivas , George Papadimas , Constantinos Papadopoulos , Margarita Chrysanthou-Piterou , Eduard Gallardo , Montse Olivé , James Lilleker , Mark E Roberts , Domenica Marchese , Giulia Lunazzi , Holger Heyn , Esther Fernández-Simón , Elisa Villalobos , James Clark , Panos Katsikis , Catherine Collins , Priyanka Mehra , Zoe Laidler , Amy Vincent , Giorgio Tasca , Chiara Marini-Bettolo , Michela Guglieri , Volker Straub , Nina Raben , Jordi Díaz-Manera

A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity.

The Journal of clinical investigation
Avec: Massimo Buvoli , Genevieve Ck Wilson , Ada Buvoli , Jack F Gugel , Abbi Hau , Carsten G Bönnemann , Carmen Paradas , David M Ryba , Kathleen C Woulfe , Lori A Walker , Tommaso Buvoli , Julien Ochala , Leslie A Leinwand

Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Neurology
Avec: Ursula Moore , Marni Jacobs , Meredith K James , Anna G Mayhew , Roberto Fernandez-Torron , Jia Feng , Avital Cnaan , Michelle Eagle , Karen Bettinson , Laura E Rufibach , Robert Muni Lofra , Andrew M Blamire , Pierre G Carlier , Plavi Mittal , Linda Pax Lowes , Lindsay Alfano , Kristy Rose , Tina Duong , Katherine M Berry , Elena Montiel-Morillo , Irene Pedrosa-Hernández , Scott Holsten , Mohammed Sanjak , Ai Ashida , Chikako Sakamoto , Takayuki Tateishi , Hiroyuki Yajima , Aurélie Canal , Gwenn Ollivier , Valerie Decostre , Juan Bosco Mendez , Nieves Sánchez-Aguilera Praxedes , Simone Thiele , Catherine Siener , Jeanine Shierbecker , Julaine M Florence , Bruno Vandevelde , Brittney DeWolf , Meghan Hutchence , Richard Gee , Juliana Prügel , Elke Maron , Heather Hilsden , Hanns Lochmüller , Ulrike Grieben , Simone Spuler , Carolina Tesi Rocha , John W Day , Kristi J Jones , Diana X Bharucha-Goebel , Emmanuelle Salort-Campana , Matthew Harms , Alan Pestronk , Sabine Krause , Olivia Schreiber-Katz , Maggie C Walter , Carmen Paradas , Jean-Yves Hogrel , Tanya Stojkovic , Shin'ichi Takeda , Madoka Mori-Yoshimura , Elena Bravver , Susan Sparks , Jordi Díaz-Manera , Luca Bello , Claudio Semplicini , Elena Pegoraro , Jerry R Mendell , Kate Bushby , Volker Straub , Auteur inconnu

Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy.

Frontiers in neurology
Avec: Ursula Moore , Marni Jacobs , Roberto Fernandez-Torron , Jaume LLauger Rossello , Fiona E Smith , Meredith James , Anna Mayhew , Laura Rufibach , Pierre G Carlier , Andrew M Blamire , John W Day , Kristi J Jones , Diana X Bharucha-Goebel , Emmanuelle Salort-Campana , Alan Pestronk , Maggie C Walter , Carmen Paradas , Tanya Stojkovic , Madoka Mori-Yoshimura , Elena Bravver , Elena Pegoraro , Jerry R Mendell , Kate Bushby , Volker Straub , Jordi Diaz-Manera

Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Journal of neurology, neurosurgery, and psychiatry
Avec: Marianela Schiava , Chiseko Ikenaga , Rocío Nur Villar-Quiles , Marta Caballero-Ávila , Ana Topf , Ichizo Nishino , Virginia Kimonis , Bjarne Udd , Benedikt Schoser , Edmar Zanoteli , Paulo Victor Sgobbi Souza , Giorgio Tasca , Thomas Lloyd , Adolfo Lopez-de Munain , Carmen Paradas , Elena Pegoraro , Aleksandra Nadaj-Pakleza , Jan De Bleecker , Umesh Badrising , Alicia Alonso-Jiménez , Anna Kostera-Pruszczyk , Francesc Miralles , Jin-Hong Shin , Jorge Alfredo Bevilacqua , Montse Olivé , Matthias Vorgerd , Rudi Kley , Stefen Brady , Timothy Williams , Cristina Domínguez-González , George K Papadimas , Jodi Warman-Chardon , Kristl G Claeys , Marianne de Visser , Nuria Muelas , Pascal LaForet , Edoardo Malfatti , Lindsay N Alfano , Sruthi S Nair , Georgios Manousakis , Hani A Kushlaf , Matthew B Harms , Christopher Nance , Alba Ramos-Fransi , Carmelo Rodolico , Channa Hewamadduma , Hakan Cetin , Jorge García-García , Endre Pál , Maria Elena Farrugia , Phillipa J Lamont , Colin Quinn , Velina Nedkova-Hristova , Stojan Peric , Sushan Luo , Anders Oldfors , Kate Taylor , Stuart Ralston , Tanya Stojkovic , Conrad Weihl , Jordi Diaz-Manera , Auteur inconnu , Auteur inconnu

Cumulative Genetic Score and

Neurology. Genetics
Avec: John Dou , Kelly Bakulski , Kai Guo , Junguk Hur , Lili Zhao , Sara Saez-Atienzar , Ali Stark , Ruth Chia , Alberto García-Redondo , Ricardo Rojas-Garcia , Juan Francisco Vázquez Costa , Ruben Fernandez Santiago , Sara Bandres-Ciga , Pilar Gómez-Garre , Maria Teresa Periñán , Pablo Mir , Jordi Pérez-Tur , Fernando Cardona , Manuel Menendez-Gonzalez , Javier Riancho , Daniel Borrego-Hernández , Lucia Galán-Dávila , Jon Infante Ceberio , Pau Pastor , Carmen Paradas , Oriol Dols-Icardo , Bryan J Traynor , Eva L Feldman , Stephen A Goutman , Auteur inconnu

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.

Neuromuscular disorders : NMD
Avec: Rafael Jenaro Martinez-Marin , David Reyes-Leiva , Andrés Nascimento , Nuria Muelas , C Dominguez-González , Carmen Paradas , Montse Olivé , Mar García-Romero , Samuel Ignacio Pascual-Pascual , Josep Maria Grau , Miguel Angel Barba-Romero , Maria Teresa Gomez-Caravaca , Javier de Las Heras , Pilar Casquero , Maria Dolores Mendoza , Juan Carlos de León , Antonio Gutierrez , Germán Morís , Raquel Blanco-Lago , Alba Ramos-Fransi , Guillem Pintós , Maria José García-Antelo , Maria Rabasa , Yolanda Morgado , Mercedes Usón , Francisco Javier Miralles , Jose Eulalio Bárcena-Llona , Ana Belén Gómez-Belda , Maria Isabel Pedraza-Hueso , Miryam Hortelano , Antoni Colomé , Guillermina Garcia-Martin , Adolfo Lopez de Munain , Ivonne Jericó , Lucía Galán-Dávila , Julio Pardo , Giorgina Salgueiro-Origlia , Jorge Alonso-Pérez , Francesc Pla-Junca , Marianela Schiava , Sonia Segovia-Simón , Jordi Díaz-Manera

Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.

Neuromuscular disorders : NMD
Avec: Laura Llansó , Ursula Moore , Carla Bolano-Diaz , Meredith James , Andrew M Blamire , Pierre G Carlier , Laura Rufibach , Heather Gordish-Dressman , Georgina Boyle , Heather Hilsden , John W Day , Kristi J Jones , Diana X Bharucha-Goebel , Emmanuelle Salort-Campana , Alan Pestronk , Maggie C Walter , Carmen Paradas , Tanya Stojkovic , Madoka Mori-Yoshimura , Elena Bravver , Elena Pegoraro , Jerry R Mendell , Volker Straub , Jordi Díaz-Manera

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.

Molecular genetics and metabolism
Avec: Esther Fernández-Simón , Ana Carrasco-Rozas , Eduard Gallardo , Lidia González-Quereda , Jorge Alonso-Pérez , Izaskun Belmonte , Irene Pedrosa-Hernández , Elena Montiel , Sonia Segovia , Xavier Suárez-Calvet , Jaume Llauger , Mercedes Mayos , Isabel Illa , Miguel Angel Barba-Romero , Joseba Barcena , Carmen Paradas , María Rosario Carzorla , Carlota Creus , Jaume Coll-Cantí , Manuel Díaz , Cristina Domínguez , Roberto Fernández-Torrón , Maria José García-Antelo , Josep Maria Grau , Adolfo López de Munáin , Francisco Antonio Martínez-García , Yolanda Morgado , Antonio Moreno , Germán Morís , Miguel Angel Muñoz-Blanco , Andres Nascimento , José Luis Parajuá-Pozo , Luis Querol , Ricard Rojas , Arturo Robledo-Strauss , Íñigo Rojas-Marcos , Jose António Salazar , Mercedes Usón , Jordi Díaz-Manera

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.

Acta neuropathologica communications
Avec: E Servián-Morilla , M Cabrera-Serrano , E Rivas-Infante , A Carvajal , P J Lamont , A L Pelayo-Negro , G Ravenscroft , R Junckerstorff , J M Dyke , S Fletcher , A M Adams , F Mavillard , M A Fernández-García , J L Nieto-González , N G Laing , C Paradas

Clinical characteristics and outcomes of thymoma-associated myasthenia gravis.

European journal of neurology
Avec: Rodrigo Álvarez-Velasco , Gerardo Gutiérrez-Gutiérrez , Juan Carlos Trujillo , Elisabeth Martínez , Sonia Segovia , Marina Arribas-Velasco , Guillermo Fernández , Carmen Paradas , Beatriz Vélez-Gómez , Carlos Casasnovas , Velina Nedkova , Antonio Guerrero-Sola , Alba Ramos-Fransi , Alicia Martínez-Piñeiro , Julio Pardo , Teresa Sevilla , María Teresa Gómez-Caravaca , Adolfo López de Munain , Ivonne Jericó , Ana L Pelayo-Negro , María Asunción Martín , Yolanda Morgado , María Dolores Mendoza , Helena Pérez-Pérez , Ricard Rojas-García , Janina Turon-Sans , Luis Querol , Eduard Gallardo , Isabel Illa , Elena Cortés-Vicente

Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.

Muscle & nerve
Avec: Ursula Moore , Roberto Fernandez-Torron , Marni Jacobs , Heather Gordish-Dressman , Jordi Diaz-Manera , Meredith K James , Anna G Mayhew , Elizabeth Harris , Michela Guglieri , Laura E Rufibach , Jia Feng , Andrew M Blamire , Pierre G Carlier , Simone Spuler , John W Day , Kristi J Jones , Diana X Bharucha-Goebel , Emmanuelle Salort-Campana , Alan Pestronk , Maggie C Walter , Carmen Paradas , Tanya Stojkovic , Madoka Mori-Yoshimura , Elena Bravver , Elena Pegoraro , Linda Pax Lowes , Jerry R Mendell , Kate Bushby , Auteur inconnu , John Bourke , Volker Straub

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.

Annals of clinical and translational neurology
Avec: Fabiola Mavillard , Marcos Madruga-Garrido , Eloy Rivas , Emilia Servián-Morilla , Rainiero Ávila-Polo , Irene Marcos , Francisco J Morón , Carmen Paradas , Macarena Cabrera-Serrano

Combined HIIT and Resistance Training in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report.

Frontiers in physiology
Avec: Alba M Herrera-Olivares , Jose A Fernández-Luque , Carmen Paradas , Alejandro Lucia , Alfredo Santalla

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.

Acta neuropathologica
Avec: E Servián-Morilla , M Cabrera-Serrano , K Johnson , A Pandey , A Ito , E Rivas , T Chamova , N Muelas , T Mongini , S Nafissi , K G Claeys , R P Grewal , M Takeuchi , H Hao , C Bönnemann , O Lopes Abath Neto , L Medne , J Brandsema , A Töpf , A Taneva , J J Vilchez , I Tournev , R S Haltiwanger , H Takeuchi , H Jafar-Nejad , V Straub , Carmen Paradas

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.

Orphanet journal of rare diseases
Avec: Cristina Domínguez-González , Marcos Madruga-Garrido , Michio Hirano , Itxaso Martí , Miguel A Martín , Francina Munell , Andrés Nascimento , Montse Olivé , Joanne Quan , M Dolores Sardina , Ramon Martí , Carmen Paradas

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.

Neuromuscular disorders : NMD
Avec: Ursula Moore , Heather Gordish , Jordi Diaz-Manera , Meredith K James , Anna G Mayhew , Michela Guglieri , Roberto Fernandez-Torron , Laura E Rufibach , Jia Feng , Andrew M Blamire , Pierre G Carlier , Simone Spuler , John W Day , Kristi J Jones , Diana X Bharucha-Goebel , Emmanuelle Salort-Campana , Alan Pestronk , Maggie C Walter , Carmen Paradas , Tanya Stojkovic , Madoka Mori-Yoshimura , Elena Bravver , Elena Pegoraro , Linda Pax Lowes , Jerry R Mendell , Kate Bushby , Volker Straub , Auteur inconnu

Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.

European journal of neurology
Avec: Rafael Sivera , Vincenzo Lupo , Marina Frasquet , Herminia Argente-Escrig , Jorge Alonso-Pérez , Jordi Díaz-Manera , Luis Querol , María Del Mar García-Romero , Samuel Ignacio Pascual , Tania García-Sobrino , Carmen Paradas , Juan Francisco Vázquez-Costa , Nuria Muelas , Elvira Millet , Juan Jesús Vílchez , Carmen Espinós , Teresa Sevilla

Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.

Frontiers in neurology
Avec: Anna G Mayhew , Meredith K James , Ursula Moore , Helen Sutherland , Marni Jacobs , Jia Feng , Linda Pax Lowes , Lindsay N Alfano , Robert Muni Lofra , Laura E Rufibach , Kristy Rose , Tina Duong , Luca Bello , Irene Pedrosa-Hernández , Scott Holsten , Chikako Sakamoto , Aurélie Canal , Nieves Sánchez-Aguilera Práxedes , Simone Thiele , Catherine Siener , Bruno Vandevelde , Brittney DeWolf , Elke Maron , Heather Gordish-Dressman , Heather Hilsden , Michela Guglieri , Jean-Yves Hogrel , Andrew M Blamire , Pierre G Carlier , Simone Spuler , John W Day , Kristi J Jones , Diana X Bharucha-Goebel , Emmanuelle Salort-Campana , Alan Pestronk , Maggie C Walter , Carmen Paradas , Tanya Stojkovic , Madoka Mori-Yoshimura , Elena Bravver , Jordi Díaz-Manera , Elena Pegoraro , Jerry R Mendell , Volker Straub

BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.

The American journal of pathology
Avec: Ana Carrasco-Rozas , Esther Fernández-Simón , Xavier Suárez-Calvet , Patricia Piñol-Jurado , Jorge Alonso-Pérez , Noemí de Luna , Benedikt Schoser , Peter Meinke , Cristina Domínguez-González , Aurelio Hernández-Laín , Carmen Paradas , Eloy Rivas , Isabel Illa , Montse Olivé , Eduard Gallardo , Jordi Díaz-Manera

Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.

Journal of neurology
Avec: Cristina Domínguez-González , Roberto Fernández-Torrón , Ursula Moore , Carlos Pablo de Fuenmayor-Fernández de la Hoz , Beatriz Vélez-Gómez , Juan Antonio Cabezas , Jorge Alonso-Pérez , Laura González-Mera , Montse Olivé , Jorge García-García , Germán Moris , Juan Carlos León Hernández , Nuria Muelas , Emilia Servian-Morilla , Miguel A Martin , Jordi Díaz-Manera , Carmen Paradas

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.

Orphanet journal of rare diseases
Avec: Antonio Atalaia , Dagmar Wandrei , Nawel Lalout , Rachel Thompson , Adrian Tassoni , Peter A C 't Hoen , Dimitrios Athanasiou , Suzie-Ann Baker , Paraskevi Sakellariou , Georgios Paliouras , Carla D'Angelo , Rita Horvath , Michelangelo Mancuso , Nadine van der Beek , Cornelia Kornblum , Janbernd Kirschner , Davide Pareyson , Guillaume Bassez , Laura Blacas , Maxime Jacoupy , Catherine Eng , François Lamy , Jean-Philippe Plançon , Jana Haberlova , Esther Brusse , Janneke G J Hoeijmakers , Marianne de Visser , Kristl G Claeys , Carmen Paradas , Antonio Toscano , Vincenzo Silani , Melinda Gyenge , Evy Reviers , Dalil Hamroun , Elisabeth Vroom , Mark D Wilkinson , Hanns Lochmuller , Teresinha Evangelista

Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.

Brain : a journal of neurology
Avec: Fabiola Mavillard , Emilia Servian-Morilla , Lein Dofash , Iñigo Rojas-Marcos , Chiara Folland , Gavin Monahan , Gerardo Gutierrez-Gutierrez , Eloy Rivas , Aurelio Hernández-Lain , Amador Valladares , Gloria Cantero , Jose M Morales , Nigel G Laing , Carmen Paradas , Gianina Ravenscroft , Macarena Cabrera-Serrano

Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.

Annals of neurology
Avec: Marni B Jacobs , Meredoith K James , Linda P Lowes , Lindsay N Alfano , Michelle Eagle , Robert Muni Lofra , Ursula Moore , Jia Feng , Laura E Rufibach , Kristy Rose , Tina Duong , Luca Bello , Irene Pedrosa-Hernández , Scott Holsten , Chikako Sakamoto , Aurélie Canal , Nieves Sanchez-Aguilera Práxedes , Simone Thiele , Catherine Siener , Bruno Vandevelde , Brittney DeWolf , Elke Maron , Michela Guglieri , Jean-Yves Hogrel , Andrew M Blamire , Pierre G Carlier , Simone Spuler , John W Day , Kristi J Jones , Diana X Bharucha-Goebel , Emmanuelle Salort-Campana , Alan Pestronk , Maggie C Walter , Carmen Paradas , Tanya Stojkovic , Madoka Mori-Yoshimura , Elena Bravver , Jordi Díaz-Manera , Elena Pegoraro , Jerry R Mendell , Auteur inconnu , Anna G Mayhew , Volker Straub

Clinical and therapeutic features of myasthenia gravis in adults based on age at onset.

Neurology
Avec: Elena Cortés-Vicente , Rodrigo Álvarez-Velasco , Sonia Segovia , Carmen Paradas , Carlos Casasnovas , Antonio Guerrero-Sola , Julio Pardo , Alba Ramos-Fransi , Teresa Sevilla , Adolfo López de Munain , Maria Teresa Gómez , Ivonne Jericó , Gerardo Gutiérrez-Gutiérrez , Ana Lara Pelayo-Negro , María Asunción Martín , María Dolores Mendoza , Germán Morís , Ricard Rojas-Garcia , Jordi Díaz-Manera , Luis Querol , Eduard Gallardo , Beatriz Vélez , María Antonia Albertí , Lucía Galán , Tania García-Sobrino , Alicia Martínez-Piñeiro , Ana Lozano-Veintimilla , Roberto Fernández-Torrón , Ángel Cano-Abascal , Isabel Illa

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.

Annals of neurology
Avec: Cristina Domínguez-González , Marcos Madruga-Garrido , Fabiola Mavillard , Caterina Garone , Francisco Javier Aguirre-Rodríguez , M Alice Donati , Karin Kleinsteuber , Itxaso Martí , Elena Martín-Hernández , Juan P Morealejo-Aycinena , Francina Munell , Andrés Nascimento , Susana G Kalko , M Dolores Sardina , Concepcion Álvarez Del Vayo , Olga Serrano , Yuelin Long , Yuqi Tu , Bruce Levin , John L P Thompson , Kristen Engelstad , Jasim Uddin , Javier Torres-Torronteras , Cecilia Jimenez-Mallebrera , Ramon Martí , Carmen Paradas , Michio Hirano

Late-onset thymidine kinase 2 deficiency: a review of 18 cases.

Orphanet journal of rare diseases
Avec: Cristina Domínguez-González , Aurelio Hernández-Laín , Eloy Rivas , Ana Hernández-Voth , Javier Sayas Catalán , Roberto Fernández-Torrón , Carmen Fuiza-Luces , Jorge García García , Germán Morís , Montse Olivé , Frances Miralles , Jordi Díaz-Manera , Candela Caballero , Bosco Méndez-Ferrer , Ramon Martí , Elena García Arumi , María Carmen Badosa , Jesús Esteban , Cecilia Jimenez-Mallebrera , Alberto Blazquez Encinar , Joaquín Arenas , Michio Hirano , Miguel Ángel Martin , Carmen Paradas

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.

Scientific reports
Avec: Cristina Dominguez-Gonzalez , Carmen Badosa , Marcos Madruga-Garrido , Itxaso Martí , Carmen Paradas , Carlos Ortez , Jordi Diaz-Manera , Andres Berardo , Jorge Alonso-Pérez , Selena Trifunov , Daniel Cuadras , Susana G Kalko , Cora Blázquez-Bermejo , Yolanda Cámara , Ramon Martí , Fabiola Mavillard , Miguel A Martin , Julio Montoya , Eduardo Ruiz-Pesini , Joan Villarroya , Raquel Montero , Francesc Villarroya , Rafael Artuch , Michio Hirano , Andrés Nascimento , Cecilia Jimenez-Mallebrera

Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.

Annals of clinical and translational neurology
Avec: Elena Cortés-Vicente , Rodrigo Álvarez-Velasco , Francesc Pla-Junca , Ricard Rojas-Garcia , Carmen Paradas , Teresa Sevilla , Carlos Casasnovas , María Teresa Gómez-Caravaca , Julio Pardo , Alba Ramos-Fransi , Ana Lara Pelayo-Negro , Gerardo Gutiérrez-Gutiérrez , Janina Turon-Sans , Adolfo López de Munain , Antonio Guerrero-Sola , Ivonne Jericó , María Asunción Martín , María Dolores Mendoza , Germán Morís , Beatriz Vélez-Gómez , Tania Garcia-Sobrino , Elba Pascual-Goñi , David Reyes-Leiva , Isabel Illa , Eduard Gallardo

Water T2 could predict functional decline in patients with dysferlinopathy.

Journal of cachexia, sarcopenia and muscle
Avec: Ursula Moore , Ericky Caldas de Almeida Araújo , Harmen Reyngoudt , Heather Gordish-Dressman , Fiona E Smith , Ian Wilson , Meredith James , Anna Mayhew , Laura Rufibach , John W Day , Kristi J Jones , Diana X Bharucha-Goebel , Emmanuelle Salort-Campana , Alan Pestronk , Maggie C Walter , Carmen Paradas , Tanya Stojkovic , Madoka Mori-Yoshimura , Elena Bravver , Elena Pegoraro , Jerry R Mendell , Auteur inconnu , Kate Bushby , Andrew M Blamire , Volker Straub , Pierre G Carlier , Jordi Diaz-Manera

Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.

European journal of neurology
Avec: Juan F Vázquez-Costa , Daniel Borrego-Hernández , Carmen Paradas , María Teresa Gómez-Caravaca , Ricardo Rojas-Garcia , Luis Varona , Mónica Povedano , Tania García-Sobrino , Ivonne Jericó Pascual , Antonio Gutiérrez , Javier Riancho , Janina Turon-Sans , Abdelilah Assialioui , Jordi Pérez-Tur , Teresa Sevilla , Jesús Esteban Pérez , Alberto García-Redondo , Auteur inconnu

Lessons learned from a sporadic FUSopathy in a young man: a case report.

BMC neurology
Avec: Ernesto García-Roldán , Eloy Rivas-Infante , Manuel Medina-Rodríguez , José Enrique Arriola-Infante , Silvia Rodrigo-Herrero , Carmen Paradas , Alberto Rábano-Gutiérrez , Emilio Franco-Macías

Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.

Neuromuscular disorders : NMD
Avec: Ursula Moore , Esther Fernández-Simón , Marianela Schiava , Dan Cox , Heather Gordish-Dressman , Meredith K James , Anna Mayhew , Ian Wilson , Michela Guglieri , Laura Rufibach , Andrew Blamire , Pierre G Carlier , Madoka Mori-Yoshimura , John W Day , Kristi J Jones , Diana X Bharucha-Goebel , Emmanuelle Salort-Campana , Alan Pestronk , Maggie C Walter , Carmen Paradas , Tanya Stojkovic , Elena Bravver , Elena Pegoraro , Jerry R Mendell , Kate Bushby , Jordi Diaz-Manera , Volker Straub , Auteur inconnu

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.

Brain : a journal of neurology
Avec: Alexander de Bruyn , Federica Montagnese , Sonja Holm-Yildiz , Nanna Scharff Poulsen , Tanya Stojkovic , Anthony Behin , Johanna Palmio , Manu Jokela , Jan L De Bleecker , Marianne de Visser , Anneke J van der Kooi , Leroy Ten Dam , Cristina Domínguez González , Lorenzo Maggi , Annamaria Gallone , Anna Kostera-Pruszczyk , Anna Macias , Anna Łusakowska , Velina Nedkova , Montse Olive , Rodrigo Álvarez-Velasco , Julia Wanschitz , Carmen Paradas , Fabiola Mavillard , Giorgia Querin , Gorka Fernández-Eulate , Ros Quinlivan , Maggie C Walter , Christophe E Depuydt , Bjarne Udd , John Vissing , Benedikt Schoser , Kristl G Claeys

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Journal of neurology
Avec: Diana Esteller , Marianela Schiava , Rocío-Nur Villar-Quiles , Boris Dibowski , Nadia Venturelli , Pascal Laforet , Jorge Alonso-Pérez , Montse Olive , Cristina Domínguez-González , Carmen Paradas , Beatriz Vélez , Anna Kostera-Pruszczyk , Biruta Kierdaszuk , Carmelo Rodolico , Kristl Claeys , Endre Pál , Edoardo Malfatti , Sarah Souvannanorath , Alicia Alonso-Jiménez , Willem de Ridder , Eline De Smet , George Papadimas , Constantinos Papadopoulos , Sofia Xirou , Sushan Luo , Nuria Muelas , Juan J Vilchez , Alba Ramos-Fransi , Mauro Monforte , Giorgio Tasca , Bjarne Udd , Johanna Palmio , Srtuhi Sri , Sabine Krause , Benedikt Schöser , Roberto Fernández-Torrón , Adolfo López de Munain , Elena Pegoraro , Maria Elena Farrugia , Mathias Vorgerd , Georgious Manousakis , Jean Baptiste Chanson , Aleksandra Nadaj-Pakleza , Hakan Cetin , Umesh Badrising , Jodi Warman-Chardon , Jorge Bevilacqua , Nicholas Earle , Mario Campero , Jorge Díaz , Chiseko Ikenaga , Thomas E Lloyd , Ichizo Nishino , Yukako Nishimori , Yoshihiko Saito , Yasushi Oya , Yoshiaki Takahashi , Atsuko Nishikawa , Ryo Sasaki , Chiara Marini-Bettolo , Michela Guglieri , Volker Straub , Tanya Stojkovic , Robert Y Carlier , Jordi Díaz-Manera

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.

Neurology. Genetics
Avec: Marianela Schiava , Chiseko Ikenaga , Ana Topf , Marta Caballero-Ávila , Tsui-Fen Chou , Shan Li , Feng Wang , Jil Daw , Tanya Stojkovic , Rocio Villar-Quiles , Ichizo Nishino , Michio Inoue , Yukako Nishimori , Yoshihiko Saito , Masahisa Katsuno , Seiya Noda , Chihiro Ito , Mieko Otsuka , Sruthi Nahir , Georgios Manousakis , David Walk , Colin Quinn , Lindsay Alfano , Zarife Sahenk , Giorgio Tasca , Mauro Monforte , Mario Sabatelli , Giulia Bisogni , Anders Oldfors , Anna Rydeliu , Endre Pal , Carmen Paradas , Beatriz Velez , Jan L De Bleecker , Maria Elena Farugia , Cheryl Longman , Matthew B Harms , Stuart Ralston , Edmar Zanoteli , Andre Macedo Serafim da Silva , Javier Sotoca , Raul Juntas-Morales , Jorge Bevilacqua , Mireya Balart , Stuart Talbot , Volker Straub , Michela Guglieri , Chiara Marini-Bettolo , Jordi Diaz-Manera , Conrad Chris Weihl

Clinical and Genetic Analysis of Patients With TK2 Deficiency.

Neurology. Genetics
Avec: Francisco Ceballos , Pablo Serrano-Lorenzo , Laura Bermejo-Guerrero , Alberto Blázquez , Juan F Quesada-Espinosa , Jorge Amigo , Pablo Minguez , Carmen Ayuso , Elena García-Arumí , Nuria Muelas , Teresa Jaijo , Andres Nascimento , Beatriz Galán-Rodriguez , Carmen Paradas , Joaquín Arenas , Angel Carracedo , Ramon Martí , Miguel A Martín , Cristina Domínguez-González , Auteur inconnu

Réseau de co-auteurs

Tanya Stojkovic 14 collaborations
Volker Straub 13 collaborations
Jordi Díaz-Manera 13 collaborations
None None 12 collaborations
Elena Pegoraro 11 collaborations
Ursula Moore 10 collaborations
Maggie C Walter 10 collaborations
Jordi Diaz-Manera 9 collaborations
Cristina Domínguez-González 9 collaborations
Pierre G Carlier 9 collaborations
John W Day 9 collaborations
Kristi J Jones 9 collaborations
Diana X Bharucha-Goebel 9 collaborations
Emmanuelle Salort-Campana 9 collaborations
Alan Pestronk 9 collaborations
Madoka Mori-Yoshimura 9 collaborations
Elena Bravver 9 collaborations
Jerry R Mendell 9 collaborations
Montse Olivé 8 collaborations
Michela Guglieri 8 collaborations
Andrew M Blamire 8 collaborations
Nuria Muelas 7 collaborations
Alba Ramos-Fransi 7 collaborations
Jorge Alonso-Pérez 7 collaborations
Germán Morís 6 collaborations
Roberto Fernández-Torrón 6 collaborations
Isabel Illa 6 collaborations
Fabiola Mavillard 6 collaborations
Eloy Rivas 6 collaborations
Eduard Gallardo 6 collaborations
Kate Bushby 6 collaborations
Julio Pardo 5 collaborations
Giorgio Tasca 5 collaborations
Luis Querol 5 collaborations
Adolfo López de Munain 5 collaborations
Meredith K James 5 collaborations
Anna G Mayhew 5 collaborations
Jia Feng 5 collaborations
Laura E Rufibach 5 collaborations
Simone Spuler 5 collaborations
Marianela Schiava 5 collaborations
Heather Gordish-Dressman 5 collaborations
Teresa Sevilla 5 collaborations
Ramon Martí 5 collaborations
Tania García-Sobrino 4 collaborations
Chiara Marini-Bettolo 4 collaborations
María Asunción Martín 4 collaborations
Anna Kostera-Pruszczyk 4 collaborations
Esther Fernández-Simón 4 collaborations
Marni Jacobs 4 collaborations
Roberto Fernandez-Torron 4 collaborations
Linda Pax Lowes 4 collaborations
Irene Pedrosa-Hernández 4 collaborations
Laura Rufibach 4 collaborations
Andrés Nascimento 4 collaborations
Ivonne Jericó 4 collaborations
Rodrigo Álvarez-Velasco 4 collaborations
Marcos Madruga-Garrido 4 collaborations
Michio Hirano 4 collaborations
Mauro Monforte 3 collaborations
Macarena Cabrera-Serrano 3 collaborations
Alberto García-Redondo 3 collaborations
Ricardo Rojas-Garcia 3 collaborations
Jordi Pérez-Tur 3 collaborations
Javier Riancho 3 collaborations
Daniel Borrego-Hernández 3 collaborations
Xavier Suárez-Calvet 3 collaborations
Robert Muni Lofra 3 collaborations
Kristy Rose 3 collaborations
Tina Duong 3 collaborations
Scott Holsten 3 collaborations
Chikako Sakamoto 3 collaborations
Aurélie Canal 3 collaborations
Simone Thiele 3 collaborations
Catherine Siener 3 collaborations
Bruno Vandevelde 3 collaborations
Brittney DeWolf 3 collaborations
Elke Maron 3 collaborations
Heather Hilsden 3 collaborations
Jean-Yves Hogrel 3 collaborations
Luca Bello 3 collaborations
Meredith James 3 collaborations
Anna Mayhew 3 collaborations
Chiseko Ikenaga 3 collaborations
Ichizo Nishino 3 collaborations
Bjarne Udd 3 collaborations
Benedikt Schoser 3 collaborations
Kristl G Claeys 3 collaborations
Marianne de Visser 3 collaborations
Lindsay N Alfano 3 collaborations
Yolanda Morgado 3 collaborations
Sonia Segovia 3 collaborations
Gerardo Gutiérrez-Gutiérrez 3 collaborations
Beatriz Vélez-Gómez 3 collaborations
Carlos Casasnovas 3 collaborations
Antonio Guerrero-Sola 3 collaborations
María Teresa Gómez-Caravaca 3 collaborations
María Dolores Mendoza 3 collaborations
Janina Turon-Sans 3 collaborations
Elena Cortés-Vicente 3 collaborations
Itxaso Martí 3 collaborations
Cecilia Jimenez-Mallebrera 3 collaborations
John Vissing 2 collaborations
Jorge Alfredo Bevilacqua 2 collaborations
Pascal Laforet 2 collaborations
Emilia Servián-Morilla 2 collaborations
John Dou 2 collaborations
Kelly Bakulski 2 collaborations
Kai Guo 2 collaborations
Junguk Hur 2 collaborations
Lili Zhao 2 collaborations
Sara Saez-Atienzar 2 collaborations
Ali Stark 2 collaborations
Ruth Chia 2 collaborations
Juan Francisco Vázquez Costa 2 collaborations
Ruben Fernandez Santiago 2 collaborations
Sara Bandres-Ciga 2 collaborations
Pilar Gómez-Garre 2 collaborations
Maria Teresa Periñán 2 collaborations
Pablo Mir 2 collaborations
Fernando Cardona 2 collaborations
Manuel Menendez-Gonzalez 2 collaborations
Lucia Galán-Dávila 2 collaborations
Jon Infante Ceberio 2 collaborations
Pau Pastor 2 collaborations
Oriol Dols-Icardo 2 collaborations
Bryan J Traynor 2 collaborations
Eva L Feldman 2 collaborations
Stephen A Goutman 2 collaborations
Gloria Cantero 2 collaborations
Antonio Toscano 2 collaborations
Biruta Kierdaszuk 2 collaborations
Aurelio Hernández-Lain 2 collaborations
George Papadimas 2 collaborations
Constantinos Papadopoulos 2 collaborations
Michelle Eagle 2 collaborations
Lindsay Alfano 2 collaborations
Sabine Krause 2 collaborations
Fiona E Smith 2 collaborations
Marta Caballero-Ávila 2 collaborations
Ana Topf 2 collaborations
Edmar Zanoteli 2 collaborations
Aleksandra Nadaj-Pakleza 2 collaborations
Umesh Badrising 2 collaborations
Alicia Alonso-Jiménez 2 collaborations
Jodi Warman-Chardon 2 collaborations
Edoardo Malfatti 2 collaborations
Georgios Manousakis 2 collaborations
Matthew B Harms 2 collaborations
Carmelo Rodolico 2 collaborations
Hakan Cetin 2 collaborations
Jorge García-García 2 collaborations
Endre Pál 2 collaborations
Maria Elena Farrugia 2 collaborations
Colin Quinn 2 collaborations
Sushan Luo 2 collaborations
Anders Oldfors 2 collaborations
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David Reyes-Leiva 2 collaborations
Josep Maria Grau 2 collaborations
Miguel Angel Barba-Romero 2 collaborations
Maria José García-Antelo 2 collaborations
Mercedes Usón 2 collaborations
Francesc Pla-Junca 2 collaborations
Ana Carrasco-Rozas 2 collaborations
Andres Nascimento 2 collaborations
E Servián-Morilla 2 collaborations
M Cabrera-Serrano 2 collaborations
Velina Nedkova 2 collaborations
Alicia Martínez-Piñeiro 2 collaborations
Miguel A Martín 2 collaborations
Francina Munell 2 collaborations
M Dolores Sardina 2 collaborations
Aurelio Hernández-Laín 2 collaborations
Emilia Servian-Morilla 2 collaborations
Miguel A Martin 2 collaborations
Ana Lara Pelayo-Negro 2 collaborations
Ricard Rojas-Garcia 2 collaborations
Beatriz Vélez 2 collaborations
Susana G Kalko 2 collaborations
Joaquín Arenas 2 collaborations
Ian Wilson 2 collaborations
Johanna Palmio 2 collaborations
Jan L De Bleecker 2 collaborations
Montse Olive 2 collaborations
Jorge Bevilacqua 2 collaborations
Yukako Nishimori 2 collaborations
Yoshihiko Saito 2 collaborations
Alejandro Gil-Gálvez 1 collaboration
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K Johnson 1 collaboration
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