Researcher
Carlos Casasnovas Pons
University of Barcelona
Statistics
45 papers found
All papers authored by Carlos Casasnovas Pons
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Montserrat Ruiz ,
Laura Planas-Serra ,
Edgard Verdura ,
Agustí Rodríguez-Palmero ,
Agatha Schlüter,
Leire Goicoechea ,
Cristina Guilera ,
Josefina Casas ,
Felix Campelo ,
Emmanuelle Jouanguy,
Jean-Laurent Casanova ,
Odile Boespflug-Tanguy ,
Maria Vazquez Cancela,
Luis González Gutiérrez-Solana
and 3 other authors
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
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,
Nathalie Launay ,
Leire Goicoechea ,
Bénédicte Heron,
Cristina Jou,
Natalia Juliá-Palacios ,
Montserrat Ruiz ,
Stéphane Fourcade ,
Carlos Casasnovas ,
Carolina De La Torre,
Antoinette Gelot ,
Maria Marsal ,
Pablo Loza-Alvarez ,
Àngels García-Cazorla ,
Ali Fatemi
and 4 other authors
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity
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,
Laura Lladó,
Cristina Borrachero,
Patricia Valentina Pérez-Santamaría ,
Francisco Muñoz-Beamud,
Inés Asunción Losada-López,
Maria Carme Baliellas-Comellas,
Juan González-Moreno
Download from doi.org
,
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
and 10 other authors
Drug‐refractory myasthenia gravis: Clinical characteristics, treatments, and outcome
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,
Agatha Schlüter ,
Edgard Verdura ,
Montserrat Ruiz ,
Juan José Martínez,
Isabelle Gourlaouen,
Chandran Ka,
Ricardo Lobato,
Carlos Casasnovas ,
Gérald Le Gac ,
Stéphane Fourcade ,
Aurora Pujol
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy
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,
Agatha Schlüter,
Gorka Fernández‐Eulate,
Raquel Ramos‐Martín,
Miren Zulaica,
Laura Planas‐Serra ,
Montserrat Ruiz,
Stéphane Fourcade,
Carlos Casasnovas ,
Adolfo López de Munain,
Aurora Pujol
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases
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Download from doi.org
,
Celedonio Márquez-Infante,
Teresa Sevilla,
Samuel I. Pascual,
María Sánchez-Aragó,
Carmen Espinos,
Francesc Palau,
José M. Cuezva
Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients
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Causes of neuropathy in patients referred as “Idiopathic neuropathy”
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,
Carlos Cemillán,
José Ignacio Cuadrado,
Jacinto Duarte,
María Dolores Fernández-Pérez,
Óscar Fernández,
FernándezÓscar,
Juan Antonio García Merino,
Rosa García Montero
and 5 other authors
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,
A. Behin
and 24 other authors
Titin antibodies in “seronegative” myasthenia gravis – A new role for an old antigen
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,
Francesc Villarroya,
Cristina Guilera ,
Francisco J. Ortega,
Alba Naudí,
Reinald Pamplona ,
Ramón Gimeno,
Stéphane Fourcade,
Manuel Portero-Otín,
Aurora Pujol
Download from www.researchgate.net
,
A. Evoli,
F. Deymeer,
G. Saruhan Direskeneli,
H. Durmus,
T. Brenner,
A. Vaknin
and 22 other authors
MuSK autoantibodies in myasthenia gravis detected by cell based assay — A multinational study
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,
J. Coll-Cantí,
J. Diaz-Manera,
M. R. Fernandez Torron,
I. Jericó,
T. Garcia Sobrino
and 10 other authors
Myasthenia gravis: descriptive analysis of life-threatening events in a recent nationwide registry
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,
Javier Giménez,
Antoni Matilla-Dueñas,
Ivelisse Sánchez,
Víctor Volpini
Download from link.springer.com
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