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1

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

Jonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Lidia González-Quereda, Eloy Rivas, Carmen Paradas, Marcos Madruga, Pedro Sánchez-Ayaso, Cristina Jou, Laura Gonz

Journal:

Orphanet Journal of Rare Diseases

Année:

2012

Langue:

english

Fichier:

PDF, 654 KB

english, 2012

2

Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele

M. Meznaric, L. Gonzalez-Quereda, E. Gallardo, N. de Luna, P. Gallano, M. Fanin, C. Angelini, B. Peterlin, J. Zidar

Journal:

European Journal of Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 74 KB

english, 2011

3

LMNA mutation in progeroid syndrome in association with strokes

L. Gonzalez-Quereda, V. Delgadillo, J. Juan-Mateu, E. Verdura, M.J. Rodriguez, M. Baiget, M. Pineda, P. Gallano

Journal:

European Journal of Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 439 KB

english, 2011

4

An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families

Laura Gort, Ester Quintana, Sonia Moliner, Lidia González-Quereda, Tania López-Hernández, Paz Briones

Journal:

Medicina Clínica

Année:

2009

Fichier:

PDF, 103 KB

2009

5

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

N. De Luna, A. Freixas, P. Gallano, L. Caselles, R. Rojas-García, C. Paradas, G. Nogales, R. Dominguez-Perles, L. Gonzalez-Quereda, J.J. Vílchez, C. Márquez, J. Bautista, A. Guerrero, J.A. Salazar, A.

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 212 KB

english, 2007

6

G.P.4.05 Childhood early onset of LGMD2B in siblings homozygous for the A927fsX21 mutation in the dysferlin gene

L. González-Quereda, H. Gómez, A. Cabello, N. De Luna, E. Gallardo, M. Rodriguez, J. Juan, M. Baiget, P. Gallano

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

7

G.P.8.10 Muscle imaging in familial asymptomatic hyperCKemia due to mutations in caveolin-3 gene

C. Paradas, P. Gallano, L. Gonzalez-Quereda, N. De Luna, L. Gonzalez, M. Olivé

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

8

A new phenotype of dysferlinopathy with congenital onset

C. Paradas, L. González-Quereda, N. De Luna, E. Gallardo, I. García-Consuegra, H. Gómez, A. Cabello, I. Illa, P. Gallano

Journal:

Neuromuscular Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2009

9

G.P.10.06 Caveolinopathy presenting as neonatal hypotonia

M. Olivé, L. Gonzalez-Quereda, P. Gallano, M. Roig, F. Munell, A. Sanchez, A. Macaya, I. Ferrer

Journal:

Neuromuscular Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 38 KB

english, 2009

10

G.P.13.09 Muscle biopsy mRNA-based analysis of point mutations in DMD gene in Spanish patients

J. Juan-Mateu, M.J. Rodrı´guez, L. González-Quereda, J. Colomer, A. Nascimento, A. Cabello, E. Rivas, M. Madruga, C. Paradas, M. Olivé, P. Gallano

Journal:

Neuromuscular Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 40 KB

english, 2009

11

P1.48 Unusual morphological changes due to different mutations in lamin A/C gene: observations in four patients

C. Paradas, E. Rivas, S. Jesús, J. Morales, L. González-Quereda, P. Gallano, M. Olivé, C. Márquez

Journal:

Neuromuscular Disorders

Année:

2010

Langue:

english

Fichier:

PDF, 39 KB

english, 2010

12

P4.06 Somatic mosaicism in a Duchenne/Becker muscular dystrophy patient

J. Juan-Mateu, C. Paradas, E. Verdura, E. Rivas, M. Olivé, L. González-Quereda, E. Comanys, M.J. Rodríguez, E. Tizzano, M. Baiget, P. Gallano

Journal:

Neuromuscular Disorders

Année:

2010

Langue:

english

Fichier:

PDF, 36 KB

english, 2010

13

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

Année:

2011

Langue:

english

Fichier:

PDF, 61 KB

english, 2011

14

P2.34 Mutational spectrum of sarcoglycanopathies in Spain

E. Verdura, L. Gonzalez-Quereda, J. Juan-Mateu, M.J. Rodriguez, A. Cabello, M. Castro Gago, J. Coll, J. Colomer, E. Gutierrez-Rivas, K. Hankiewicz, A. Lopez de Munain, C. Navarro, S. Pascual, A. Pou,

Journal:

Neuromuscular Disorders

Année:

2011

Langue:

english

Fichier:

PDF, 47 KB

english, 2011

15

Phenotypic variability in a Spanish family with a Caveolin-3 mutation

Paloma González-Pérez, Pía Gallano, Lidia González-Quereda, Eloy Rivas-Infante, Susana Teijeira, Carmen Navarro, Juan Bautista-Lorite

Journal:

Journal of the Neurological Sciences

Année:

2009

Langue:

english

Fichier:

PDF, 316 KB

english, 2009

16

G.P.79 DMD mutation spectrum in 611 unrelated dystrophinopathy families

Juan-Mateu, J., Fernandez, M.J., Gonzalez-Quereda, L., Verdura, E., Colomer, A., Nascimento, A., Baiget, M., Gallano, P.

Journal:

Neuromuscular Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 60 KB

english, 2012

17

Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle

J Juan-Mateu, C Paradas, M Olivé, E Verdura, E Rivas, L González-Quereda, MJ Rodríguez, M Baiget, P Gallano

Journal:

Clinical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 754 KB

english, 2012

18

Morphology and tectonics of the Galapagos Triple junction [of the Pacific, Cocos, and Nazca plates]

Juan-Mateu, J., González-Quereda, L., Rodriguez, M.J., Jou, C., Nascimento, A., Jimenez-Mallebrera, C., Colomer, J., Baiget, M., Olive, M., Gallano, P.

Journal:

Deep Sea Research Part B. Oceanographic Literature Review

Année:

1986

Langue:

english

Fichier:

PDF, 90 KB

english, 1986

19

P.2.14 Isolated cognitive abnormalities associated to DMD mutations

Juan-Mateu, J., González-Quereda, L., Rodriguez, M.J., Jou, C., Nascimento, A., Jimenez-Mallebrera, C., Colomer, J., Baiget, M., Olive, M., Gallano, P.

Journal:

Neuromuscular Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 47 KB

english, 2013

20

ROYAL COLLEGE OF SURGEONS OF ENGLAND.

Juan-Mateu, J., González-Quereda, L., Rodriguez, M.J., Jou, C., Nascimento, A., Jimenez-Mallebrera, C., Colomer, J., Baiget, M., Olive, M., Gallano, P.

Journal:

Année:

1893

Langue:

english

Fichier:

PDF, 182 KB

english, 1893

21

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

Année:

2014

Langue:

english

Fichier:

PDF, 47 KB

english, 2014

22

Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos

Vieitez, I., Gallano, P., González-Quereda, L., Borrego, S., Marcos, I., Millán, J.M., Jairo, T., Prior, C., Molano, J., Trujillo-Tiebas, M.J., Gallego-Merlo, J., García-Barcina, M., Fenollar, M., Nav

Journal:

Année:

2016

Fichier:

PDF, 1008 KB

2016

23

Dystrophinopathies: A NGS approach for the molecular analysis of DMD gene

Gallano, P., Gonzalez-Quereda, L., Lasa, A., Baena, M., Rodriguez, M., Monges, S., Lubieniecki, F., Nascimento, A., Ortez, C., Baiget, M.

Journal:

Neuromuscular Disorders

Année:

2015

Langue:

english

Fichier:

PDF, 200 KB

english, 2015

24

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases

Gallano, P., Vieitez, I., Gonzalez-Quereda, L., Borrego, S., Marcos, I., Millan, J., Jaijo, T., Prior, C., Molano, J., Trujillo-Tiebas, M., Gallego-Merlo, J., Garcia-Barcina, M., Fenollar-Cortés, M.,

Journal:

Neuromuscular Disorders

Année:

2016

Langue:

english

Fichier:

PDF, 209 KB

english, 2016

25

LGMD2D intrafamilial clinical heterogeneity caused by alternative splicing of SGCA gene

Gonzalez-Quereda, L., Gallano, P., Gallardo, E., Rodriguez, M., Lleixa, C., Straub, V., Topf, A., Diaz-Manera, J.

Journal:

Neuromuscular Disorders

Année:

2016

Langue:

english

Fichier:

PDF, 190 KB

english, 2016

26

Desminopathy in Chile, first cases reported

Bevilacqua, J., Gonzalez-Quereda, L., Castiglioni, C., Zamorano, I., Acevedo, L., Díaz, J., Rodríguez, M., Trangulao, A., Rivera, M., Gallano, P.

Journal:

Neuromuscular Disorders

Année:

2016

Langue:

english

Fichier:

PDF, 194 KB

english, 2016

27

Molecular characterization of congenital myasthenic syndromes in spain

Natera-de Benito, D, Töpf, A, Vilchez, JJ, González-Quereda, L, Domínguez-Carral, J, Díaz-Manera, J, Ortez, C, Bestué, M, Gallano, P, Dusl, M, Abicht, A, Müller, JS, Senderek, J, García-Ribes, A, Muel

Journal:

Neuromuscular Disorders

Année:

2017

Langue:

english

Fichier:

PDF, 1.46 MB

english, 2017

28

Two different NGS approaches to address molecular diagnosis of congenital neuromuscular diseases

Gonzalez-Quereda, L., Rodriguez, M., Nascimento, A., Ortez, C., Jou, C., Milisenda, J., Diaz-Manera, J., Jerico, I., Tejada, I., Gallano, P.

Journal:

Neuromuscular Disorders

Année:

2017

Langue:

english

Fichier:

PDF, 235 KB

english, 2017

29

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

Juan-Mateu, Jonas, Gonzalez-Quereda, Lidia, Rodriguez, Maria Jose, Baena, Manel, Verdura, Edgard, Nascimento, Andres, Ortez, Carlos, Baiget, Montserrat, Gallano, Pia, Ervasti, James M.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 2.35 MB

english, 2015

30

Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy

Gallardo, Eduard, de Luna, Noemi, Diaz-Manera, Jordi, Rojas-García, Ricardo, Gonzalez-Quereda, Lidia, Flix, Bàrbara, de Morrée, Antoine, van der Maarel, Silvère, Illa, Isabel, Schuelke, Markus

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 452 KB

english, 2011

31

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement

Gonzalez-Quereda, Lidia, Gallardo, Eduard, Töpf, Ana, Alonso-Jimenez, Alicia, Straub, Volker, Rodriguez, Maria Jose, Lleixa, Cinta, Illa, Isabel, Gallano, Pia, Diaz-Manera, Jordi

Journal:

Neuromuscular Disorders

Année:

2018

Langue:

english

Fichier:

PDF, 1.68 MB

english, 2018

32

Anti-rh-GAA antibodies does not influence late onset Pompe disease progression

Díaz-Manera, Jordi, Alonso-Jimenez, Alicia, Figueroa-Bonaparte, Sebastian, Gonzalez-Quereda, Lidia, Segovia, Sonia, Llauger, Jaume, Belmonte, Izaskun, Pedrosa, Irene, Carrasco, Ana, Nuñez-Peralta, Cla

Journal:

Molecular Genetics and Metabolism

Année:

2018

Langue:

english

Fichier:

PDF, 75 KB

english, 2018

33

Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

Alías, Laura, Crespi, Jaume, González-Quereda, Lidia, Téllez, Jesús, Martínez, Elisabeth, Bernal, Sara, Gallano, Ma Pia

Journal:

BMC Medical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 3.01 MB

english, 2018

34

LIMB-GIRDLE MUSCULAR DYSTROPHY I

Gonzalez-Quereda, L., Garrabou, G., Rodriguez, M., Gallano, P., Sanchez, A., Grau, J., Milisenda, J.

Journal:

Neuromuscular Disorders

Année:

2018

Langue:

english

Fichier:

PDF, 62 KB

english, 2018

35

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Gonzalez-Quereda, L., Pellisé, A., Vidal, N., Rodriguez, M., Gallano, P., Olivé, M.

Journal:

Neuromuscular Disorders

Année:

2018

Langue:

english

Fichier:

PDF, 68 KB

english, 2018

36

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

Fernández-Simón, Esther, Carrasco-Rozas, Ana, Gallardo, Eduard, González-Quereda, Lidia, Alonso-Pérez, Jorge, Belmonte, Izaskun, Pedrosa-Hernández, Irene, Montiel, Elena, Segovia, Sonia, Suárez-Calvet

Journal:

Molecular Genetics and Metabolism

Année:

2019

Fichier:

PDF, 479 KB

2019

37

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

González-Quereda, L., Fuentealba, M., Díaz, J., Trangulao, A., Gallano, P., Bevilacqua, J.

Journal:

Neuromuscular Disorders

Année:

2018

Langue:

english

Fichier:

PDF, 66 KB

english, 2018

38

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

Gonzalez-Quereda, Lidia, Rodriguez, Maria Jose, Diaz-Manera, Jordi, Alonso-Perez, Jorge, Gallardo, Eduard, Nascimento, Andres, Ortez, Carlos, Benito, Daniel Natera-de, Olive, Montse, Gonzalez-Mera, La

Journal:

Année:

2020

Fichier:

PDF, 377 KB

2020

39

Anoctamin 5 (ANO5) muscular dystrophyâthree different phenotypes and a new histological pattern

SeguÃ, Ferran, Gonzalez-Quereda, Lidia, Sanchez, Aurora, Matas-GarcÃa, Ana, Garrabou, Gloria, Rodriguez, Maria JosÃ©, Gallano, Pia, Grau, Josep Maria, Milisenda, JosÃ© CÃ©sar

Journal:

Neurological Sciences

Année:

2020

Fichier:

PDF, 447 KB

2020

40

Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients

Riera, Pau, RodrÃguez-Santiago, BenjamÃn, Lasa, Adriana, Gonzalez-Quereda, Lidia, MartÃn, Berta, Salazar, Juliana, Sebio, Ana, Virgili, Anna C., MinguillÃ³n, Jordi, Camps, Cristina, SurrallÃ©s, Jor

Journal:

Année:

2020

Fichier:

PDF, 691 KB

2020

41

HEREDITARY NEUROPATHIES & ALS

Gonzalez-Quereda, L., Gallano, P., Pagola, I., Rodriguez, M., Bernal, S., TornÃ©, L., JericÃ³, I.

Journal:

Neuromuscular Disorders

Année:

2020

Fichier:

PDF, 56 KB

2020