Jaume Coll Cantí
Jaume Coll Cantí
Univesitat Autònoma de Barcelona. Hospital Germans Trias
Dirección de correo verificada de gencat.cat
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A dysfunctional desmin mutation in a patient with severe generalized myopathy
AM Muñoz-Mármol, G Strasser, M Isamat, PA Coulombe, Y Yang, X Roca, ...
Proceedings of the National Academy of Sciences 95 (19), 11312-11317, 1998
Assay of succinate dehydrogenase activity by a colorimetric-continuous method using iodonitrotetrazolium chloride as electron acceptor
P Munujos, J Coll-Canti, F Gonzalez-Sastre
Anal. Biochem 212, 506-509, 1993
Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle
A Ariza, J Coll, MT Fernandez-Figueras, MD Lopez, JL Mate, O García, ...
Human pathology 26 (9), 1032-1037, 1995
Central nervous system disease in Sjögren's syndrome
D Escudero, P Latorre, M Codina, J Coll-Canti, J Coll
Annales de médecine interne 146 (4), 239-242, 1995
Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy.
R Cervera, J Bruix, A Bayes, R Blesa, I Illa, J Coll, AM Garcia-Puges
Gut 29 (4), 544-547, 1988
Amyotrophic lateral sclerosis in Catalonia: A population based study
GLALSCAT Jesús Pradas, Teresa Puig, Ricard Rojas-García
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14 (4), 278-283, 2013
Muscle MRI findings in childhood/adult onset pompe disease correlate with muscle function
S Figueroa-Bonaparte, S Segovia, J Llauger, I Belmonte, I Pedrosa, ...
PLoS One 11 (10), e0163493, 2016
Tuberous sclerosis: a Golgi study of cortical tuber.
I Ferrer, I Fabregues, J Coll, T Ribalta, A Rives
Clinical Neuropathology 3 (2), 47-51, 1984
Brain pyruvate oxidation in experimental thiamin-deficiency encephalopathy
P Munujos, J Coll-Canti, J Beleta, F Gonzalez-Sastre, F Gella
Clinica Chimica Acta 255 (1), 13-25, 1996
Myasthenia gravis: descriptive analysis of life-threatening events in a recent nationwide registry.
A Ramos‐Fransi, R García, Rojas‐Garcia, S Segovia, C Márquez‐Infante, ...
European Journal of Neurology, 1-6, 2015
Neuropathy due to necrotizing vasculitis: a study of the clinical anatomy, neurophysiological characteristics, and clinical course of the disorder in 27 patients
J Sanchez, J Coll-Canti, A Ariza, A Olive, A Cuixart, J Teixido
Revista de Neurologia 33 (11), 1033-1036, 2001
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update
A Santalla, G Nogales-Gadea, AB Encinar, I Vieitez, A González-Quintana, ...
BMC genomics 18 (8), 819, 2017
Different patterns of nicotinic acetylcholine receptor subunit transcription in human thymus
R Bruno, L Sabater, E Tolosa, M Sospedra, X Ferrer-Francesch, J Coll, ...
Journal of neuroimmunology 149 (1-2), 147-159, 2004
Exercise and preexercise nutrition as treatment for McArdle disease
G Nogales-Gadea, A Santalla, A Ballester-Lopez, J Arenas, MA Martín, ...
Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome
A Blanco‐Grau, I Bonaventura‐Ibars, J Coll‐Cantí, MJ Melià, R Martinez, ...
Genes, Brain and Behavior 12 (8), 812-820, 2013
Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study
S Figueroa-Bonaparte, J Llauger, S Segovia, I Belmonte, I Pedrosa, ...
Scientific reports 8 (1), 1-11, 2018
Genes and exercise intolerance: insights from McArdle disease
G Nogales-Gadea, R Godfrey, A Santalla, J Coll-Cantí, G Pintos-Morell, ...
Physiological genomics 48 (2), 93-100, 2016
Chloroquine-induced myopathy and neuropathy: progressive tetraparesis with areflexia that simulates a polyradiculoneuropathy. Two case reports
JL Becerra-Cunat, J Coll-Cantí, E Gelpí-Mantius, X Ferrer-Avellí, ...
Revista de neurologia 36 (6), 523, 2003
Taking advantage of an old concept,“illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease
I Garcia-Consuegra, A Blázquez, JC Rubio, J Arenas, A Ballester-Lopez, ...
Genetics in Medicine 18 (11), 1128-1135, 2016
Implementation of Intraoperative Neurophysiological Monitoring during Endovascular Procedures in the Central Nervous System.
A Martinez-Piñeiro, C Cubells, P Garcia, C Castaño, A Dávalos, ...
Interventional Neurology 3 (2), 85-100, 2015
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