Search Results - "Vilchez, Juan Jesús"

Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series by Sivera, Rafael, Sevilla, Teresa, Vílchez, Juan Jesús, Martínez-Rubio, Dolores, Chumillas, María José, Vázquez, Juan Francisco, Muelas, Nuria, Bataller, Luis, Millán, José María, Palau, Fancesc, Espinós, Carmen

“…OBJECTIVES:To determine the genetic distribution and the phenotypic correlation of an extensive series of patients with Charcot-Marie-Tooth disease in a…”
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Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation by Frasquet, Marina, Rojas‐García, Ricard, Argente‐Escrig, Herminia, Vázquez‐Costa, Juan Francisco, Muelas, Nuria, Vílchez, Juan Jesús, Sivera, Rafael, Millet, Elvira, Barreiro, Marisa, Díaz‐Manera, Jordi, Turon‐Sans, Janina, Cortés‐Vicente, Elena, Querol, Luis, Ramírez‐Jiménez, Laura, Martínez‐Rubio, Dolores, Sánchez‐Monteagudo, Ana, Espinós, Carmen, Sevilla, Teresa, Lupo, Vincenzo

“…Background and purpose Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of disorders characterized by degeneration of the motor component…”
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Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion by Poyatos‐García, Javier, Martí, Pilar, Liquori, Alessandro, Muelas, Nuria, Pitarch, Inmaculada, Martinez‐Dolz, Luis, Rodríguez, Benjamin, Gonzalez‐Quereda, Lidia, Damiá, Maria, Aller, Elena, Selva‐Gimenez, Marta, Vilchez, Roger, Diaz‐Manera, Jordi, Alonso‐Pérez, Jorge, Barcena, José Eulalio, Jauregui, Amaia, Gámez, Josep, Aladrén, Jesus Angel, Fernández, Ariadna, Montolio, Marisol, Azorin, Inmaculada, Hervas, David, Casasús, Ana, Nieto, Marisa, Gallano, Pia, Sevilla, Teresa, Vilchez, Juan Jesus

“…Objective Duchenne muscular dystrophy (DMD) exon 45–55 deletion (del45–55) has been postulated as a model that could treat up to 60% of DMD patients, but the…”
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Vestibular impairment in Charcot-Marie-Tooth disease type 4C by Pérez-Garrigues, Herminio, Sivera, Rafael, Vílchez, Juan Jesús, Espinós, Carmen, Palau, Francesc, Sevilla, Teresa

“…Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary neuropathy with prominent unsteadiness. The objective of the current study is to determine whether…”
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The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection by Rodríguez-Mora, Sara, De Wit, Flore, García-Perez, Javier, Bermejo, Mercedes, López-Huertas, María Rosa, Mateos, Elena, Martí, Pilar, Rocha, Susana, Vigón, Lorena, Christ, Frauke, Debyser, Zeger, Vílchez, Juan Jesús, Coiras, Mayte, Alcamí, José

“…The causative mutation responsible for limb girdle muscular dystrophy 1F (LGMD1F) is one heterozygous single nucleotide deletion in the stop codon of the…”
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Charcot–Marie–Tooth disease due to MORC2 mutations in Spain by Sivera, Rafael, Lupo, Vincenzo, Frasquet, Marina, Argente‐Escrig, Herminia, Alonso‐Pérez, Jorge, Díaz‐Manera, Jordi, Querol, Luis, Mar García‐Romero, María, Ignacio Pascual, Samuel, García‐Sobrino, Tania, Paradas, Carmen, Francisco Vázquez‐Costa, Juan, Muelas, Nuria, Millet, Elvira, Jesús Vílchez, Juan, Espinós, Carmen, Sevilla, Teresa

“…Background and purpose MORC2 mutations have been described as a rare cause of axonal Charcot–Marie–Tooth disease (CMT2Z). The aim of this work was to determine…”
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CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2 by Poyatos-García, Javier, Blázquez-Bernal, Águeda, Selva-Giménez, Marta, Bargiela, Ariadna, Espinosa-Espinosa, Jorge, Vázquez-Manrique, Rafael P., Bigot, Anne, Artero, Ruben, Vilchez, Juan Jesús

“…A single-nucleotide deletion in the stop codon of the nuclear import receptor transportin-3 (TNPO3), also involved in human immunodeficiency virus type 1…”
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Immunoproteomic studies on paediatric opsoclonus-myoclonus associated with neuroblastoma by Torres-Vega, Estefanía, Durán-Moreno, María, del Pino, Manuel Sánchez, Yáñez, Yania, Cañete, Adela, Castel, Victoria, López-Cuevas, Rogelio, Vílchez, Juan Jesús, Dalmau, Josep, Graus, Francesc, García Verdugo, José Manuel, Bataller, Luis

“…Abstract We aimed to identify new cell-membrane antigens implicated in opsoclonus-myoclonus with neuroblastoma. The sera of 3 out of 14 patients showed IgG…”
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Clinical phenotype, muscle MRI and muscle pathology of LGMD1F by Peterle, Enrico, Fanin, Marina, Semplicini, Claudio, Padilla, Juan Jesus Vilchez, Nigro, Vincenzo, Angelini, Corrado

“…Of the seven autosomal dominant genetically distinct forms of LGMD so far described, in only four the causative gene has been identified (LGMD1A-1D). We…”
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Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin‐deficient muscle by Laitila, Jenni, Seaborne, Robert A. E., Ranu, Natasha, Kolb, Justin S., Wallgren‐Pettersson, Carina, Witting, Nanna, Vissing, John, Vilchez, Juan Jesus, Zanoteli, Edmar, Palmio, Johanna, Huovinen, Sanna, Granzier, Henk, Ochala, Julien

“…Nemaline myopathy (NM) is a genetic muscle disease, primarily caused by mutations in the NEB gene (NEB‐NM) and with muscle myosin dysfunction as a major…”
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European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders by Bersselaar, Luuk R., Heytens, Luc, Silva, Helga C. A., Reimann, Jens, Tasca, Giorgio, Díaz‐Cambronero, Óscar, Løkken, Nicoline, Hellblom, Anna, Hopkins, Philip M., Rueffert, Henrik, Bastian, Börge, Vilchez, Juan Jesus, Gillies, Robyn, Johannsen, Stephan, Veyckemans, Francis, Muenster, Tino, Klein, Andrea, Litman, Ron, Jungbluth, Heinz, Riazi, Sheila, Voermans, Nicol C., Snoeck, Marc M. J.

“…Background and purpose Patients with neuromuscular conditions are at increased risk of suffering perioperative complications related to anaesthesia. There is…”
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NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy by Ranu, Natasha, Laitila, Jenni, Dugdale, Hannah F, Mariano, Jennifer, Kolb, Justin S, Wallgren-Pettersson, Carina, Witting, Nanna, Vissing, John, Vilchez, Juan Jesus, Fiorillo, Chiara, Zanoteli, Edmar, Auranen, Mari, Jokela, Manu, Tasca, Giorgio, Claeys, Kristl G, Voermans, Nicol C, Palmio, Johanna, Huovinen, Sanna, Moggio, Maurizio, Beck, Thomas Nyegaard, Kontrogianni-Konstantopoulos, Aikaterini, Granzier, Henk, Ochala, Julien

“…Nemaline myopathy (NM) is one of the most common non-dystrophic genetic muscle disorders. NM is often associated with mutations in the NEB gene. Even though…”
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Human skeletal myopathy myosin mutations disrupt myosin head sequestration by Carrington, Glenn, Hau, Abbi, Kosta, Sarah, Dugdale, Hannah F, Muntoni, Francesco, D'Amico, Adele, Van den Bergh, Peter, Romero, Norma B, Malfatti, Edoardo, Vilchez, Juan Jesus, Oldfors, Anders, Pajusalu, Sander, Õunap, Katrin, Giralt-Pujol, Marta, Zanoteli, Edmar, Campbell, Kenneth S, Iwamoto, Hiroyuki, Peckham, Michelle, Ochala, Julien

“…Myosin heavy chains encoded by MYH7 and MYH2 are abundant in human skeletal muscle and important for muscle contraction. However, it is unclear how mutations…”
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Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 Infection by Diez-Fuertes, Francisco, López-Huertas, María Rosa, García-Pérez, Javier, Calonge, Esther, Bermejo, Mercedes, Mateos, Elena, Martí, Pilar, Muelas, Nuria, Vílchez, Juan Jesús, Coiras, Mayte, Alcamí, José, Rodríguez-Mora, Sara

“…LGMDD2 is a rare form of muscular dystrophy characterized by one of the three heterozygous deletions described within the gene that result in the addition of a…”
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Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene by Marco‐Hernández, Ana Victoria, Tomás‐Vila, Miguel, Montoya‐Filardi, Alejandro, Barranco‐González, Honorio, Vilchez Padilla, Juan Jesus, Azorín, Inmaculada, Smeyers Dura, Patricia, Monfort‐Membrado, Sandra, Pitarch‐Castellano, Inmaculada, Martínez‐Castellano, Francisco

“…IMMT gene codes for mitofilin, a mitochondrial inner membrane protein that regulates the morphology of mitochondrial cristae. The phenotype associated with…”
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Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene by Martí, Salvador, León, Marian, Orellana, Carmen, Prieto, Javier, Ponsoda, Xavier, López-García, Carlos, Vílchez, Juan Jesús, Sevilla, Teresa, Torres, Josema

“…Human CMT2-FiPS4F1 cell line was generated from fibroblasts of a patient with Charcot-Marie-Tooth disease harbouring the following mutations in the GDAP1 gene…”
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Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy by Alonso-Jimenez, Alicia, Kroon, Rosemarie H M J M, Alejaldre-Monforte, Aida, Nuñez-Peralta, Claudia, Horlings, Corinne G C, van Engelen, Baziel G M, Olivé, Montse, González, Laura, Verges-Gil, Enric, Paradas, Carmen, Márquez, Celedonio, Garibaldi, Matteo, Gallano, Pía, Rodriguez, Maria José, Gonzalez-Quereda, Lidia, Dominguez Gonzalez, Cristina, Vissing, John, Fornander, Freja, Eisum, Anne-Sofie Vibæk, García-Sobrino, Tania, Pardo, Julio, García-Figueiras, Roberto, Muelas, Nuria, Vilchez, Juan Jesús, Kapetanovic, Solange, Tasca, Giorgio, Monforte, Mauro, Ricci, Enzo, Gomez, María Teresa, Bevilacqua, Jorge Alfredo, Diaz-Jara, Jorge, Zamorano, Ivonne Ingrid, Carlier, Robert Yves, Laforet, Pascal, Pelayo-Negro, Ana, Ramos-Fransi, Alba, Martínez, Amaia, Marini-Bettolo, Chiara, Straub, Volker, Gutiérrez, Gerardo, Stojkovic, Tanya, Martín, María Asunción, Morís, Germán, Fernández-Torrón, Roberto, Lopez De Munaín, Adolfo, Cortes-Vicente, Elena, Querol, Luis, Rojas-García, Ricardo, Illa, Isabel, Diaz-Manera, Jordi

“…Background and objectiveOculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene…”
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Familial idiopathic paroxysmal kinesigenic dyskinesia: its natural history and a descriptive study in three Spanish families by Palau-Bargues, Juan, Rubio-Agusti, Ignacio, Burguera, Juan Andrés, Vilchez-Padilla, Juan Jesús, Villanueva, Vicente E

“…Paroxysmal kinesigenic dyskinesia (PKD) is a disorder that is characterised by brief episodes of involuntary movements triggered by other sudden movements…”
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259th ENMC international workshop: Anaesthesia and neuromuscular disorders 11 December, 2020 and 28–29 May, 2021 by van den Bersselaar, LR, Riazi, S, Snoeck, MMJ, Jungbluth, H, Voermans, NC, Bastian, Börge, van den Bersselaar, Luuk R., Cornel, Martina, Cambronero, Oscar Díaz, Dietrich, Klaus, van Esch, Charlotte, Forzano, Francesca, Gillies, Robyn, Hellblom, Anna, Heytens, Luc, Hopkins, Phil, Johannsen, Stephan, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Klein, Andrea, Litman, Ron, Løkken, Nicoline, Münster, Tino, Reimann, Jens, Rendu, John, Riazi, Sheila, Rueffert, Henrik, Silva, Helga CA, Snoeck, Marc MJ, Soller, Maria, Stowell, Kathryn, Tasca, Giorgio, Veyckemans, Francis, Vilchez, Juan Jesus, Voermans, Nicol C.

“…•An overview of current knowledge on anaesthesia and neuromuscular disorders was presented.•A multidisciplinary approach is essential for optimal…”
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Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain by Sivera, Rafael, Frasquet, Marina, Lupo, Vincenzo, García-Sobrino, Tania, Blanco-Arias, Patricia, Pardo, Julio, Fernández-Torrón, Roberto, de Munain, Adolfo López, Márquez-Infante, Celedonio, Villarreal, Liliana, Carbonell, Pilar, Rojas-García, Ricard, Segovia, Sonia, Illa, Isabel, Frongia, Anna Lia, Nascimento, Andrés, Ortez, Carlos, García-Romero, María del Mar, Pascual, Samuel Ignacio, Pelayo-Negro, Ana Lara, Berciano, José, Guerrero, Antonio, Casasnovas, Carlos, Camacho, Ana, Esteban, Jesús, Chumillas, María José, Barreiro, Marisa, Díaz, Carmen, Palau, Francesc, Vílchez, Juan Jesús, Espinós, Carmen, Sevilla, Teresa

“…Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of…”
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