Search Results - "Pintos, Elena"

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene by Castro-Gago, Manuel, Dacruz-Alvarez, David, Pintos-Martínez, Elena, Beiras-Iglesias, Andrés, Arenas, Joaquín, Martín, Miguel Ángel, Martínez-Azorín, Francisco

“…Abstract Choline kinase beta gene ( CHKB ) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn…”
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Inflammatory myopathy in the context of an unusual overlapping laminopathy by Guillín-Amarelle, Cristina, Sánchez-Iglesias, Sofía, Mera, Antonio, Pintos, Elena, Castro-Pais, Ana, Rodríguez-Cañete, Leticia, Pardo, Julio, Casanueva, Felipe F, Araújo-Vilar, David

“…Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA…”
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Primary Adenosine Monophosphate (AMP) Deaminase Deficiency in a Hypotonic Infant by Castro-Gago, Manuel, Gomez-Lado, Carmen, Perez-Gay, Laura, Eiris-Punal, Jesus, Pintos Martinez, Elena, Garcia-Consuegra, Ines, Martin, Miguel Angel

“…The spectrum of the adenosine monophosphate (AMP) deaminase deficiency ranges from asymptomatic carriers to patients who manifest exercise-induced muscle pain,…”
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Open versus minimally invasive total gastrectomy after neoadjuvant chemotherapy: results of a European randomized trial by van der Wielen, Nicole, Straatman, Jennifer, Daams, Freek, Rosati, Riccardo, Parise, Paolo, Weitz, Jürgen, Reissfelder, Christoph, Diez del Val, Ismael, Loureiro, Carlos, Parada-González, Purificación, Pintos-Martínez, Elena, Mateo Vallejo, Francisco, Medina Achirica, Carlos, Sánchez-Pernaute, Andrés, Ruano Campos, Adriana, Bonavina, Luigi, Asti, Emanuele L. G., Alonso Poza, Alfredo, Gilsanz, Carlos, Nilsson, Magnus, Lindblad, Mats, Gisbertz, Suzanne S., van Berge Henegouwen, Mark I., Fumagalli Romario, Uberto, De Pascale, Stefano, Akhtar, Khurshid, Jaap Bonjer, H., Cuesta, Miguel A., van der Peet, Donald L.

“…Background Surgical resection with adequate lymphadenectomy is regarded the only curative option for gastric cancer. Regarding minimally invasive techniques,…”
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Epidemiology of Pediatric Mitochondrial Respiratory Chain Disorders in Northwest Spain by Castro-Gago, Manuel, Blanco-Barca, Manuel O., Campos-González, Yolanda, Arenas-Barbero, Joaquín, Pintos-Martínez, Elena, Eirís-Puñal, Jesús

“…Our knowledge of mitochondrial respiratory chain diseases has increased dramatically in recent years, but relatively little information is available about…”
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Metabolic Effects of Aripiprazole and Olanzapine Multiple-Dose Treatment in a Randomised Crossover Clinical Trial in Healthy Volunteers: Association with Pharmacogenetics by Koller, Dora, Almenara, Susana, Mejía, Gina, Saiz-Rodríguez, Miriam, Zubiaur, Pablo, Román, Manuel, Ochoa, Dolores, Navares-Gómez, Marcos, Santos-Molina, Elena, Pintos-Sánchez, Elena, Abad-Santos, Francisco

“…Introduction Aripiprazole and olanzapine are atypical antipsychotics. Both drugs can induce metabolic changes; however, the metabolic side effects produced by…”
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Three-year survival and distribution of lymph node metastases in gastric cancer following neoadjuvant chemotherapy: results from a European randomized clinical trial by van der Wielen, Nicole, Daams, Freek, Rosati, Riccardo, Parise, Paolo, Weitz, Jürgen, Reissfelder, Christoph, del Val, Ismael Diez, Loureiro, Carlos, Parada-González, Purificación, Pintos-Martínez, Elena, Vallejo, Francisco Mateo, Achirica, Carlos Medina, Sánchez-Pernaute, Andrés, Campos, Adriana Ruano, Bonavina, Luigi, Asti, Emanuele L. G., Poza, Alfredo Alonso, Gilsanz, Carlos, Nilsson, Magnus, Lindblad, Mats, Gisbertz, Suzanne S., van Berge Henegouwen, Mark I., Romario, Uberto Fumagalli, De Pascale, Stefano, Akhtar, Khurshid, Cuesta, Miguel A., van der Peet, Donald L., Straatman, Jennifer

“…Background Adequate lymphadenectomy is an important step in gastrectomy for cancer, with a modified D2 lymphadenectomy being recommended for advanced gastric…”
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Health related quality of life following open versus minimally invasive total gastrectomy for cancer: Results from a randomized clinical trial by van der Wielen, Nicole, Daams, Freek, Rosati, Riccardo, Parise, Paolo, Weitz, Jürgen, Reissfelder, Christoph, Diez del Val, Ismael, Loureiro, Carlos, Parada-González, Purificación, Pintos-Martínez, Elena, Vallejo, Francisco Mateo, Achirica, Carlos Medina, Sánchez-Pernaute, Andrés, Campos, Adriana Ruano, Bonavina, Luigi, Asti, Emanuele L.G., Poza, Alfredo Alonso, Gilsanz, Carlos, Nilsson, Magnus, Lindblad, Mats, Gisbertz, Suzanne S., van Berge Henegouwen, Mark I., Romario, Uberto Fumagalli, De Pascale, Stefano, Akhtar, Khurshid, Bonjer, H. Jaap, Cuesta, Miguel A., van der Peet, Donald L., Straatman, Jennifer

“…Minimally invasive techniques show improved short-term and comparable long-term outcomes compared to open techniques in the treatment of gastric cancer and…”
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Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion by Castro-Gago, Manuel, Dacruz-Alvarez, David, Pintos-Martínez, Elena, Beiras-Iglesias, Andrés, Delmiro, Aitor, Arenas, Joaquín, Martín, Miguel Ángel, Martínez-Azorín, Francisco

“…Abstract Background Choline kinase beta gene ( CHKB ) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, but never in…”
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Increased expression of growth hormone and prolactin receptors in hepatocellular carcinomas by García-Caballero, T, Mertani, H M, Lambert, A, Gallego, R, Fraga, M, Pintos, E, Forteza, J, Chevallier, M, Lobie, P E, Vonderhaar, B K, Beiras, A, Morel, G

“…The liver is an essential target tissue for growth hormone (GH) and prolactin (PRL). The aim of this study was to determine the in situ expression of growth…”
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Efficacy and safety of preoperative preparation with Lugol's iodine solution in euthyroid patients with Graves’ disease (LIGRADIS Trial): Study protocol for a multicenter randomized trial by Muñoz de Nova, José Luis, Franch-Arcas, Guzmán, Mejía-Abril, Gina Paola, Flores-Ruiz, María Eugenia, Muñoz-Pérez, Nuria, Pintos-Sánchez, Elena, Guadarrama González, Francisco Javier, Valdés de Anca, Álvaro, Mercader-Cidoncha, Enrique, de la Quintana-Basarrate, Aitor, Osorio-Silla, Irene, Ros-López, Susana, Gallego-Otaegui, Lander, Santos-Molina, Elena, Martínez-Nieto, Concepción, Gamborino-Caramés, Elena, Artés-Caselles, Mariano, Lorente-Poch, Leyre, García-Carrillo, Maitane, Moreno-Llorente, Pablo, Marín-Velarde, Consuelo, Ortega-Serrano, Joaquín, Martos-Martínez, Juan Manuel, Vidal-Pérez, Oscar, Luengo-Pierrard, Patricia, Villar-del-Moral, Jesús María

“…Currently, both the American Thyroid Association and the European Thyroid Association recommend preoperative preparation with Lugol's Solution (LS) for…”
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Voluntary ingestion of Cortinarius mushrooms leading to chronic interstitial nephritis by Calviño, J, Romero, R, Pintos, E, Novoa, D, Güimil, D, Cordal, T, Mardaras, J, Arcocha, V, Lens, X M, Sanchez-Guisande, D

“…'Magic mushrooms' ingestion among the drug-using population has become a popular cheap way to get hallucinogenic effects which is not free of complications…”
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Congenital ocular motor apraxia associated with myopathy, external hydrocephalus and NADH dehydrogenase deficiency by Puñal, Jesús Eirı́s, Rodrı́guez, Eladio, Pintos, Elena, Campos, Yolanda, Castro-Gago, Manuel

“…Congenital ocular motor apraxia (COMA), first described by Cogan [Trans Am Acad Ophthalmol Otolaryngol 1952;56:853–862], is a rare disorder characterized by…”
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Unilateral calf atrophy secondary to a de novo mutation of the caveolin-3 gene by Arias Gómez, Manuel, Alberte-Woodwar, Miguel, Arias-Rivas, Susana, Dapena, Dolores, Pintos, Elena, Navarro, Carmen

“…A 23‐year‐old man was evaluated for atrophy of the left calf. He had a myopathic pattern on electromyography. Light microscopy showed dystrophic changes and…”
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Three-year survival and distribution of lymph node metastases in gastric cancer following neoadjuvant chemotherapy: results from a European randomized clinical trial (Jul, 10.1007/s00464-023-10278-5, 2023) by van, der Wielen N, Daams, F, Rosati, R, Parise, P, Weitz, J, Reissfelder, C, del, Val ID, Loureiro, C, Parada-Gonzalez, P, Pintos-Martinez, E

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Correction: Three-year survival and distribution of lymph node metastases in gastric cancer following neoadjuvant chemotherapy: results from a European randomized clinical trial by van der Wielen, Nicole, Daams, Freek, Rosati, Riccardo, Parise, Paolo, Weitz, Jürgen, Reissfelder, Christoph, del Val, Ismael Diez, Loureiro, Carlos, Parada-González, Purificación, Pintos-Martínez, Elena, Vallejo, Francisco Mateo, Achirica, Carlos Medina, Sánchez-Pernaute, Andrés, Campos, Adriana Ruano, Bonavina, Luigi, Asti, Emanuele L. G., Poza, Alfredo Alonso, Gilsanz, Carlos, Nilsson, Magnus, Lindblad, Mats, Gisbertz, Suzanne S., van Berge Henegouwen, Mark I., Romario, Uberto Fumagalli, De Pascale, Stefano, Akhtar, Khurshid, Cuesta, Miguel A., van der Peet, Donald L., Straatman, Jennifer

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Congenital Hydranencephalic-Hydrocephalic Syndrome Associated With Mitochondrial Dysfunction by Castro-Gago, Manuel, Alonso, Adela, Pintos-Martinez, Elena, Beiras-Iglesias, Andrés, Campos, Yolanda, Arenas, Joaquin, Novo-Rodriguez, Maria Inés, Eiris-Punal, Jesus

“…We report the case of a 3-year-old girl, the only child of a nonconsanguineous couple without relevant antecedents, who was born with…”
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Scrotal Peripheral Primitive Neuroectodermal Tumor by Baleato-González, Sandra, Tirapu-de-Sagrario, Maria Gabriela, Pintos-Martínez, Elena, García-Figueiras, Roberto

“…The peripheral primitive neuroectodermal tumor (pPNET) is a rare malignant tumor originating from neuroectoderm that usually occurs in children or adolescent…”
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Corrigendum to “Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene” [Brain Dev. 38 (2016) 167–172] by Castro-Gago, Manuel, Dacruz-Alvarez, David, Pintos-Martínez, Elena, Beiras-Iglesias, Andrés, Arenas, Joaquín, Martín, Miguel Ángel, Martínez-Azorín, Francisco

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Open versus minimally invasive total gastrectomy after neoadjuvant chemotherapy: results of a European randomized trial (Jul, 10.1007/s10120-020-01109-w, 2020) by van, der Wielen N, Straatman, J, Daams, F, Rosati, R, Parise, P, Weitz, J, Reissfelder, C, Diez, del Val I, Loureiro, C, Parada-Gonzalez, P

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