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1

Response to methotrexate in a chronic inflammatory demyelinating polyradiculoneuropathy patient

Jordi Díaz-Manera, Ricard Rojas-García, Eduard Gallardo, Isabel Illa

Journal:

Year:

2009

Language:

english

File:

PDF, 125 KB

english, 2009

2

A novel mutation in the mitochondrial tRNAAla gene (m.5636T>C) in a patient with progressive external ophthalmoplegia

Tomàs Pinós, Mario Marotta, Eduard Gallardo, Isabel Illa, Jorge Díaz-Manera, Emiliano Gonzalez-Vioque, Elena García-Arumí, Antoni L. Andreu, Ramon Martí

Journal:

Year:

2011

Language:

english

File:

PDF, 773 KB

english, 2011

3

[Society for the Promotion of Hellenic Studies]. Meetings of the Session 1945-46

Fiaschi, T., Tedesco, F. S., Giannoni, E., Diaz-Manera, J., Parri, M., Cossu, G., Chiarugi, P.

Journal:

The Journal of Hellenic Studies

Year:

1946

Language:

english

File:

PDF, 45 KB

english, 1946

4

Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity

Huijbers, Maartje G., Vink, Anna-Fleur D., Niks, Erik H., Westhuis, Ruben H., van Zwet, Erik W., de Meel, Robert H., Rojas-García, Ricardo, Díaz-Manera, Jordi, Kuks, Jan B., Klooster, Rinse, Straashei

Journal:

Journal of Neuroimmunology

Year:

2016

Language:

english

File:

PDF, 1.31 MB

english, 2016

5

Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy

Pascual-Goñi, Elba, Martín-Aguilar, Lorena, Lleixà, Cinta, Martínez-Martínez, Laura, Simón-Talero, Manuel J., Díaz-Manera, Jordi, Cortés-Vicente, Elena, Rojas-García, Ricard, Moga, Esther, Juárez, Cán

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 1.10 MB

english, 2019

6

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Wood, Libby, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura Cecilia, Dai, Yi, Dawkins, Hugh, Díaz-Manera, Jordi, Dogan, Celine, el Sherif, Rasha, Foss

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 251 KB

2019

7

MYO-MRI Diagnostic Protocols in Genetic Myopathies

Chardon, Jodi Warman, Díaz-Manera, Jordi, Tasca, Giorgio, Bönnemann, Carsten G., Gómez-Andrés, David, Heerschap, Arend, Mercuri, Eugenio, Muntoni, Francesco, Pichiecchio, Anna, Ricci, Enzo, Walter, Ma

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 1.28 MB

english, 2019

8

Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes

FernÃ¡ndez-SimÃ³n, Esther, LleixÃ , Cinta, Suarez-Calvet, Xavier, Diaz-Manera, Jordi, Illa, Isabel, Gallardo, Eduard, de Luna, NoemÃ

Journal:

BMC Musculoskeletal Disorders

Year:

2020

File:

PDF, 3.58 MB

2020

9

Antibodies against disialosyl and terminal NeuNAc(α2-3)Gal ganglioside epitopes in acute relapsing sensory ataxic neuropathy

R. Rojas-Garcia, E. Gallardo, M. Povedano, N. de Luna, J. Bruna, C. Juarez, J. Diaz-Manera, J. A. Martinez-Matos, I. Illa

Journal:

Journal of Neurology

Year:

2008

Language:

english

File:

PDF, 210 KB

english, 2008

10

Blood pressure is not associated with haematoma enlargement in acute intracerebral haemorrhage

J. Martí-Fàbregas, S. Martínez-Ramírez, M. Martínez-Corral, J. Díaz-Manera, L. Querol, M. Suárez-Calvet, M. De Juan, M. Santaló, R. Marín, J.-L. Martí-Vilalta

Journal:

European Journal of Neurology

Year:

2008

Language:

english

File:

PDF, 106 KB

english, 2008

11

A novel antiganglioside specificity against terminal NeuNAc(alfa 2–3)Gal in acute bulbar palsy

Ricard Rojas-Garcia, Maria Martinez-Lage, Eduard Gallardo, Noemi de Luna, Josep-Lluis Marti-Vilalta, Jordi Diaz-Manera, Candido Juarez, Rafael Blesa, Isabel Illa

Journal:

Journal of Neuroimmunology

Year:

2006

Language:

english

File:

PDF, 111 KB

english, 2006

12

Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patients

Isabel Illa, Jordi Diaz-Manera, Ricard Rojas-Garcia, Jesus Pradas, Antonio Rey, Rafael Blesa, Candido Juarez, Eduard Gallardo

Journal:

Journal of Neuroimmunology

Year:

2008

Language:

english

File:

PDF, 172 KB

english, 2008

13

Treatment strategies for myasthenia gravis: an update

Díaz-Manera, Jordi, Rojas García, Ricard, Illa, Isabel

Journal:

Expert Opinion on Pharmacotherapy

Year:

2012

Language:

english

File:

PDF, 379 KB

english, 2012

14

Unique post-exercise electrophysiological test results in a new Andersen–Tawil syndrome mutation

J. Díaz-Manera, L. Querol, J. Clarimón, S. Yagüe, I. Illa

Journal:

Clinical Neurophysiology

Year:

2011

Language:

english

File:

PDF, 212 KB

english, 2011

15

G.P.10.03 Quantification of dysferlin in monocytes: A useful tool for the detection of patients and carriers of dysferlinopathy

N. De Luna, E. Gallardo, R. Rojas-Garcia, R. Dominguez-Perles, J. Diaz-Manera, C. De La Torre, P. Gallano, I. Illa

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 59 KB

english, 2008

16

G.P.10.08 Increased lysosomes trafficking and poly(ADP-ribose)polymerase-1 expression in dysferlin myopathy: Implications in muscle fiber necrosis

R. Dominguez-Perles, N. De Luna, C. De la Torre, S.T. Cooper, R. Robles-Cedeño, R. Rojas-Garcia, J.A. Diaz-Manera, I. Illa, E. Gallardo

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 44 KB

english, 2008

17

P1.18 Dystrophinopathy in manifesting female carriers: Clinical and genetic characterization in a cohort of 20 patients

J. Juan-Mateu, E. Verdura, M.J. Rodriguez, L. Gonzalez-Quereda, J. Colomer, J. Díaz-Manera, E. Gallardo, L. Gonzalez-Mera, A. Macaya, F. Munell, A. Nascimento, C. Navarro, M. Olive, J. Pascual, A. Pou

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 61 KB

english, 2011

18

P2.30 Caveolinopathy: Further clinical heterogeneity

K. Hankiewicz, R. Rojas-García, J. Díaz-Manera, E. Gallardo, J. Llauger, P. Gallano, I. Illa

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 49 KB

english, 2011

19

Trunk muscle involvement in late-onset Pompe disease: Study of thirty patients

Aída Alejaldre, Jordi Díaz-Manera, Sabrina Ravaglia, Enrico Colli Tibaldi, Francesco D’Amore, Germán Morís, Nuria Muelas, Juan J. Vílchez, Ana García-Medina, Mercedes Usón, Francisco A. Martínez Garcí

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 463 KB

english, 2012

20

Efficacy of botulinum toxin in severe Tourette syndrome with dystonic tics involving the neck

Maria Aguirregomozcorta, Javier Pagonabarraga, Jordi Diaz-Manera, Berta Pascual-Sedano, Alexandre Gironell, Jaime Kulisevsky

Journal:

Parkinsonism & Related Disorders

Year:

2008

Language:

english

File:

PDF, 200 KB

english, 2008

21

The increase of pericyte population in human neuromuscular disorders supports their role in muscle regeneration in vivo

Díaz-Manera, Jordi, Gallardo, Eduard, de Luna, Noemi, Navas, Miquel, Soria, Laura, Garibaldi, Matteo, Rojas-García, Ricard, Tonlorenzi, Rossana, Cossu, Giulio, Illa, Isabel

Journal:

The Journal of Pathology

Year:

2012

Language:

english

File:

PDF, 4.55 MB

english, 2012

22

Miastenia gravis «seronegativa» y anticuerpos antiMuSK positivos: descripción de una serie española

Isabel Illa, Jordi A. Díaz-Manera, Cándido Juárez, Ricard Rojas-García, Laura Molina-Porcel, Aitziber Aleu, Jesús Pradas, Eduard Gallardo

Journal:

Medicina Clínica

Year:

2005

File:

PDF, 77 KB

2005

23

Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy

Querol, Luis, Nogales-Gadea, Gisela, Rojas-Garcia, Ricard, Martinez-Hernandez, Eugenia, Diaz-Manera, Jordi, Suárez-Calvet, Xavier, Navas, Miquel, Araque, Josefa, Gallardo, Eduard, Isabel Illa,

Journal:

Annals of Neurology

Year:

2013

Language:

english

File:

PDF, 1.98 MB

english, 2013

24

P.19.4 PDGF-BB is expressed by muscle fibers in myopathies and regulates growth and migration of satellite cells and pericytes

Díaz-Manera, J., Gallardo, E., Luna, N. De, Pastoret, A., Navas, M., Illa, I.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

25

P.14.1 Dysregulation of innate immunity-related genes in Dermatomyositis

Suárez-Calvet, X., Gallardo, E., Nogales-Gadea, G., Navas, M., Querol, L., Diaz-Manera, J., Rojas-Garcia, R., Illa, I.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 50 KB

english, 2013

26

Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg

Querol, L., Nogales-Gadea, G., Rojas-Garcia, R., Diaz-Manera, J., Pardo, J., Ortega-Moreno, A., Sedano, M. J., Gallardo, E., Berciano, J., Blesa, R., Dalmau, J., Illa, I.

Journal:

Year:

2014

Language:

english

File:

PDF, 646 KB

english, 2014

27

Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes

Gallardo, Eduard, Ankala, Arunkanth, Núñez-Álvarez, Yaiza, Hegde, Madhuri, Diaz-Manera, Jordi, Luna, Noemí De, Pastoret, Ana, Suelves, Mònica, Illa, Isabel

Journal:

Year:

2014

Language:

english

File:

PDF, 982 KB

english, 2014

28

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

Paradas, C., Llauger, J., Diaz-Manera, J., Rojas-Garcia, R., De Luna, N., Iturriaga, C., Marquez, C., Uson, M., Hankiewicz, K., Gallardo, E., Illa, I.

Journal:

Year:

2010

Language:

english

File:

PDF, 1.14 MB

english, 2010

29

Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis

Suárez-Calvet, Xavier, Gallardo, Eduard, Nogales-Gadea, Gisela, Querol, Luis, Navas, Miquel, Díaz-Manera, Jordi, Rojas-Garcia, Ricard, Illa, Isabel

Journal:

The Journal of Pathology

Year:

2014

Language:

english

File:

PDF, 2.83 MB

english, 2014

30

Cortactin autoantibodies in myasthenia gravis

Gallardo, Eduard, Martínez-Hernández, Eugenia, Titulaer, Maarten J., Huijbers, Maartje G., Martínez, Maria Angeles, Ramos, Alba, Querol, Luis, Díaz-Manera, Jordi, Rojas-García, Ricard, Hayworth, Chris

Journal:

Autoimmunity Reviews

Year:

2014

Language:

english

File:

PDF, 547 KB

english, 2014

31

G.P.143

Díaz-Manera, J., Alejaldre, A., Gonzalez, L., Rojas-García, R., Olivé, M., Llauger, J., Gallardo, E., Gonzalez-Quereda, L., Carbonell, P., Marquez, C., Muelas, N., Vílchez, J.J., Fernández-Torrón, R.,

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 47 KB

english, 2014

32

Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene

Díaz-Manera, J., Alejaldre, A., Llauger, J., Mirabet, S., Rojas-García, R., Ramos-Fransi, A., Gallardo, E., Illa, I.

Journal:

European Journal of Neurology

Year:

2014

Language:

english

File:

PDF, 508 KB

english, 2014

33

G.P.287

Gallardo, E., Ankala, A., Nuñez-Alvarez, y., Hedge, M., Diaz-Manera, J., De Luna, N., Pastoret, A., Suelves, M., Illa, I.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

34

Treatment strategies for myasthenia gravis

Díaz-Manera, J, Rojas-García, R, Illa, Isabel

Journal:

Expert Opinion on Pharmacotherapy

Year:

2009

Language:

english

File:

PDF, 532 KB

english, 2009

35

Severe exacerbation of Andersen–Tawil syndrome secondary to thyrotoxicosis

Díaz-Manera, Jordi, Querol, Luis, Alejaldre, Aída, Rojas-García, Ricard, Ramos-Fransi, Alba, Gallardo, Eduard, Illa, Isabel

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 114 KB

english, 2014

36

Bone Marrow Transplantation in Dysferlin-Deficient Mice Results in a Mild Functional Improvement

Flix, Bàrbara, Suárez-Calvet, Xavier, Díaz-Manera, Jordi, Santos-Nogueira, Eva, Mancuso, Renzo, Barquinero, Jordi, Navas, Miquel, Navarro, Xavier, Illa, Isabel, Gallardo, Eduard

Journal:

Stem Cells and Development

Year:

2013

Language:

english

File:

PDF, 783 KB

english, 2013

37

Antibodies to AChR, MuSK and VGKC in a patient with myasthenia gravis and Morvan's syndrome

Díaz-Manera, Jordi, Rojas-García, Ricard, Gallardo, Eduard, Juárez, Cándido, Martínez-Domeño, Alejandro, Martínez-Ramírez, Sergi, Dalmau, Josep, Blesa, Rafael, Illa, Isabel

Journal:

Nature Clinical Practice Neurology

Year:

2007

Language:

english

File:

PDF, 375 KB

english, 2007

38

Reasons for exclusion from thrombolytic therapy following acute ischemic stroke

Cocho, D., Belvis, R., Marti-Fabregas, J., Molina-Porcel, L., Diaz-Manera, J., Aleu, A., Pagonabarraga, J., Garcia-Bargo, D., Mauri, A., Marti-Vilalta, J. -L.

Journal:

Year:

2005

Language:

english

File:

PDF, 171 KB

english, 2005

39

Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy

Camara, Y., Carreno-Gago, L., Martin, M. A., Melia, M. J., Blazquez, A., Delmiro, A., Garrabou, G., Moren, C., Diaz-Manera, J., Gallardo, E., Bornstein, B., Lopez-Gallardo, E., Hernandez-Lain, A., San

Journal:

Year:

2015

Language:

english

File:

PDF, 160 KB

english, 2015

40

Globular Adiponectin as a Complete Mesoangioblast Regulator: Role in Proliferation, Survival, Motility, and Skeletal Muscle Differentiation

Fiaschi, T., Tedesco, F. S., Giannoni, E., Diaz-Manera, J., Parri, M., Cossu, G., Chiarugi, P.

Journal:

Molecular Biology of the Cell

Year:

2010

Language:

english

File:

PDF, 1.75 MB

english, 2010

41

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

Gutiérrez-Rivas, E., Bautista, J., Vílchez, J.J., Muelas, N., Díaz-Manera, J., Illa, I., Martínez-Arroyo, A., Olivé, M., Sanz, I., Arpa, J., Fernández-Torrón, R., López de Munáin, A., Jiménez, L., Sol

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 364 KB

english, 2015

42

1α,25(OH)2-Vitamin D3 Increases Dysferlin Expression in vitro and in a Human Clinical Trial

Luna, Noemi De, Díaz-Manera, Jordi, Paradas, Carmen, Iturriaga, Cristina, Rojas-García, Ricardo, Araque, Josefa, Genebriera, Mireia, Gich, Ignasi, Illa, Isabel, Gallardo, Eduard

Journal:

Molecular Therapy

Year:

2012

Language:

english

File:

PDF, 1013 KB

english, 2012

43

Hemostatic markers of recanalization in patients with ischemic stroke treated with rt-PA

Marti-Fabregas, J., Borrell, M., Cocho, D., Belvis, R., Castellanos, M., Montaner, J., Pagonabarraga, J., Aleu, A., Molina-Porcel, L., Diaz-Manera, J., Bravo, Y., Alvarez-Sabin, J., Davalos, A., Fontc

Journal:

Year:

2005

Language:

english

File:

PDF, 154 KB

english, 2005

44

Long-lasting treatment effect of rituximab in MuSK myasthenia

Diaz-Manera, J., Martinez-Hernandez, E., Querol, L., Klooster, R., Rojas-Garcia, R., Suarez-Calvet, X., Munoz-Blanco, J. L., Mazia, C., Straasheijm, K. R., Gallardo, E., Juarez, C., Verschuuren, J. J.

Journal:

Year:

2012

Language:

english

File:

PDF, 505 KB

english, 2012

45

Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins

Querol, L., Rojas-Garcia, R., Diaz-Manera, J., Barcena, J., Pardo, J., Ortega-Moreno, A., Sedano, M. J., Sero-Ballesteros, L., Carvajal, A., Ortiz, N., Gallardo, E., Illa, I.

Journal:

Neurology: Neuroimmunology & Neuroinflammation

Year:

2015

Language:

english

File:

PDF, 511 KB

english, 2015

46

Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy

Díaz-Manera, J, Touvier, T, Dellavalle, A, Tonlorenzi, R, Tedesco, F S, Messina, G, Meregalli, M, Navarro, C, Perani, L, Bonfanti, C, Illa, I, Torrente, Y, Cossu, G

Journal:

Cell Death and Disease

Year:

2010

Language:

english

File:

PDF, 858 KB

english, 2010

47

Whole body muscle MRI correlates with muscle function in patients with adult onset Pompe disease

Díaz-Manera, J., Segovia, S., Llauger, J., Belmonte, I., Suárez-Cuartin, G., Mayos, M., Alejaldre, A., Figueroa-Bonaparte, S., Pedrosa, I., Querol, L., Rojas-García, R., Gallardo, E., Illa, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

48

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.

Díaz-Manera, Jordi, Alejaldre, Aida, González, Laura, Olivé, Montse, Gómez-Andrés, David, Muelas, Nuria, Vílchez, Juan José, Llauger, Jaume, Carbonell, Pilar, Márquez-Infante, Celedonio, Fernández-Tor

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 923 KB

english, 2015

49

Role of hypoxia in innate immunity activation in dermatomyositis

Gallardo, E., Suarez-Calvet, X., De Luna, N., Rojas-Garcia, R., Diaz-Manera, J., Illa, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 224 KB

english, 2015

50

Pretreatment Hemostatic Markers of Symptomatic Intracerebral Hemorrhage in Patients Treated With Tissue Plasminogen Activator

Cocho, D., Borrell, M., Marti-Fabregas, J., Montaner, J., Castellanos, M., Bravo, Y., Molina-Porcel, L., Belvis, R., Diaz-Manera, J.-A., Martinez-Domeno, A., Martinez-Lage, M., Millan, M., Fontcuberta

Journal:

Year:

2006

Language:

english

File:

PDF, 312 KB

english, 2006

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