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L

Laura González

Neuromuscular Research Unit and Department of Neurology and Hospital Universitari de Bellvitge
H指数:19
被引数:1,284

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Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project

西班牙脊髓性肌萎缩症的真实世界数据：来自CuidAME项目超过500名个体的见解

Journal of Neuromuscular Diseases
IF3.4
2025-07-280
PRE
Cristina Puig-Ram; Sonia Segovia; Rocio Garcia-Uzquiano; Nancy Carolina Ñungo Garzón; Karolina Aragon-Gawinska; Mar García Romero; Jesica María Expósito-Escudero; Laura Carrera-García; Mercedes López-Lobato; Carmen Paradas; Laura González Mera; Mireia Álvarez Molinero; David Gómez Andrés; Esther Toro; Joaquín Alejandro Fernández Ramos; Maria Antonia Grimalt; Laura Toledo Bravo de Laguna; Desire González Barrios; Eduardo F Tizzano; Maria Grazia Cattinari; Julita Medina; Rocío Calvo Medina; Francina Munell; Javier Sotoca; Eduardo Martínez-Salcedo; Antonio Moreno Escribano; Mónica Povedano Panadés; Miguel A. Fernández-García; Inmaculada Pitarch-Castellano; Juan F. Vázquez-Costa; Daniel Natera-de Benito; Andres Nascimento
Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naive Early-Onset Anti-HMGCR Necrotizing Myopathy
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
IF7.5
2024-09-010
OAAI
Llanso, Laura; Segarra-Casas, Alba; Dominguez-Gonzalez, Cristina; Malfatti, Edoardo; Kapetanovic, Solange; Rodriguez-Santiago, Benjamin; de la Calle, Oscar; Blanco, Rosa; Dobrescu, Amelia; Nascimento-Osorio, Andres; Paipa, Andres; Hernandez-Lain, Aurelio; Jou, Cristina; Mariscal, Anais; Gonzalez-Mera, Laura; Arteche, Ana; Lleixa, Cinta; Caballero-Avila, Marta; Carbayo, Alvaro; Vesperinas, Ana; Querol, Luis; Gallardo, Eduard; Olive, Montse
HeterozygousCAPN3missense variants causing autosomal-dominant calpainopathy in seven unrelated families
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
IF3.4
2020-09-2822
PREAI
Gonzalez-Mera, L.; Ravenscroft, G.; Cabrera-Serrano, M.; Ermolova, N.; Dominguez-Gonzalez, C.; Arteche-Lopez, A.; Soltanzadeh, P.; Evesson, F.; Navas, C.; Mavillard, F.; Clayton, J.; Rodrigo, P.; Servian-Morilla, E.; Cooper, S. T.; Waddell, L.; Reardon, K.; Corbett, A.; Hernandez-Lain, A.; Sanchez, A.; Esteban Perez, J.; Paradas-Lopez, C.; Rivas-Infante, E.; Spencer, M.; Laing, N.; Olive, M.
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
2018-12-0834
PREAI
Alonso-Jimenez, Alicia; Kroon, Rosemarie H. M. J. M.; Alejaldre-Monforte, Aida; Nunez-Peralta, Claudia; Horlings, Corinne G. C.; van Engelen, Baziel G. M.; Olive, Montse; Gonzalez, Laura; Verges-Gil, Enric; Paradas, Carmen; Marquez, Celedonio; Garibaldi, Matteo; Gallano, Pia; Jose Rodriguez, Maria; Gonzalez-Quereda, Lidia; Dominguez Gonzalez, Cristina; Vissing, John; Fornander, Freja; Eisum, Anne-Sofie Vibaek; Garcia-Sobrino, Tania; Pardo, Julio; Garcia-Figueiras, Roberto; Muelas, Nuria; Jesus Vilchez, Juan; Kapetanovic, Solange; Tasca, Giorgio; Monforte, Mauro; Ricci, Enzo; Teresa Gomez, Maria; Alfredo Bevilacqua, Jorge; Diaz-Jara, Jorge; Ingrid Zamorano, Ivonne; Yves Carlier, Robert; Laforet, Pascal; Pelayo-Negro, Ana; Ramos-Fransi, Alba; Martinez, Amaia; Marini-Bettolo, Chiara; Straub, Volker; Gutierrez, Gerardo; Stojkovic, Tanya; Asuncion Martin, Maria; Moris, German; Fernandez-Torron, Roberto; Lopez De Munain, Adolfo; Cortes-Vicente, Elena; Querol, Luis; Rojas-Garcia, Ricardo; Illa, Isabel; Diaz-Manera, Jordi
Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss
ELIFE
IF0
2018-01-2241
OAAI
Guarch, Meritxell Espino; Font-Llitjos, Mariona; Murillo-Cuesta, Silvia; Errasti-Murugarren, Ekaitz; Celaya, Adelaida M.; Girotto, Giorgia; Vuckovic, Dragana; Mezzavilla, Massimo; Vilches, Clara; Bodoy, Susanna; Sahun, Ignasi; Gonzalez, Laura; Prat, Esther; Zorzano, Antonio; Dierssen, Mara; Varela-Nieto, Isabel; Gasparini, Paolo; Palacin, Manuel; Nunes, Virginia
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
BRAIN
IF11.7
2014-09-2665
PREAI
Boehm, Johann; Biancalana, Valerie; Malfatti, Edoardo; Dondaine, Nicolas; Koch, Catherine; Vasli, Nasim; Kress, Wolfram; Strittmatter, Matthias; Lia Taratuto, Ana; Gonorazky, Hernan; Laforet, Pascal; Maisonobe, Thierry; Olive, Montse; Gonzalez-Mera, Laura; Fardeau, Michel; Carriere, Nathalie; Clavelou, Pierre; Eymard, Bruno; Bitoun, Marc; Rendu, John; Faure, Julien; Weis, Joachim; Mandel, Jean-Louis; Romero, Norma B.; Laporte, Jocelyn
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2012-10-2342
OAAI
Juan-Mateu, Jonas; Jose Rodriguez, Maria; Nascimento, Andres; Jimenez-Mallebrera, Cecilia; Gonzalez-Quereda, Lidia; Rivas, Eloy; Paradas, Carmen; Madruga, Marcos; Sanchez-Ayaso, Pedro; Jou, Cristina; Gonzalez-Mera, Laura; Munell, Francina; Roig-Quilis, Manuel; Rabasa, Maria; Hernandez-Lain, Aurelio; Diaz-Manera, Jorge; Gallardo, Eduard; Pascual, Jordi; Verdura, Edgard; Colomer, Jaume; Baiget, Montserrat; Olive, Montse; Gallano, Pia
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores (vol 87, pg 842, 2010)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2011-01-012
OAAI
Sambuughin, Nyamkhishig; Yau, Kyle S.; Olive, Montse; Duff, Rachael M.; Bayarsaikhan, Munkhuu; Lu, Shajia; Gonzalez-Mera, Laura; Sivadorai, Padma; Nowak, Kristen J.; Ravenscroft, Gianina; Mastaglia, Frank L.; North, Kathryn N.; Ilkovski, Biljana; Kremer, Hannie; Lammens, Martin; van Engelen, Baziel G. M.; Fabian, Vicki; Lamont, Phillipa; Davis, Mark R.; Laing, Nigel G.; Goldfarb, Lev G.
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2010-12-01142
OAAI
Sambuughin, Nyamkhishig; Yau, Kyle S.; Olive, Montse; Duff, Rachael M.; Bayarsaikhan, Munkhuu; Lu, Shajia; Gonzalez-Mera, Laura; Sivadorai, Padma; Nowak, Kristen J.; Ravenscroft, Gianina; Mastaglia, Frank L.; North, Kathryn N.; Ilkovski, Biljana; Kremer, Hannie; Lammens, Martin; van Engelen, Baziel G. M.; Fabian, Vicki; Lamont, Phillipa; Davis, Mark R.; Laing, Nigel G.; Goldfarb, Lev G.

研究方向

暂未获取到该数据
M
Montse Olivé
H 指数:42论文数:232被引数:4,855
A
A. Nascimento
H 指数:39论文数:275被引数:4,948
C
Cristina Domínguez‐González
H 指数:27论文数:178被引数:2,517
I
Isidró Ferrer
H 指数:119论文数:1,173被引数:5.8万
B
Baziel G.M. van Engelen
H 指数:90论文数:853被引数:2.9万
N
Nigel G. Laing
H 指数:80论文数:1,233被引数:2.8万
G
Gianina Ravenscroft
H 指数:43论文数:269被引数:5,681
C
Cristina Jou
H 指数:28论文数:163被引数:2,365
L
Luís Querol
H 指数:50论文数:219被引数:9,387
M
Mark R. Davis
H 指数:52论文数:213被引数:1.0万