Search Results - "Pascual, I"
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Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates
Published in American journal of human genetics (13-07-2012)“…Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse…”
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2
Competition of Superconducting Phenomena and Kondo Screening at the Nanoscale
Published in Science (American Association for the Advancement of Science) (20-05-2011)“…Magnetic and superconducting interactions couple electrons together to form complex states of matter. We show that, at the atomic scale, both types of…”
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3
Crystal-Phase Transitions and Photocatalysis in Supramolecular Scaffolds
Published in Journal of the American Chemical Society (03-05-2017)“…The energy landscape of a supramolecular material can include different molecular packing configurations that differ in stability and function. We report here…”
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4
Protection of excited spin states by a superconducting energy gap
Published in Nature physics (01-12-2013)“…When a paramagnetic molecule is placed on a superconducting surface the lifetime of its spin excitations increases dramatically. This effect, caused by the…”
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5
Tuning the Magnetic Anisotropy of Single Molecules
Published in Nano letters (10-06-2015)“…The magnetism of single atoms and molecules is governed by the atomic scale environment. In general, the reduced symmetry of the surrounding splits the d…”
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Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations
Published in Human molecular genetics (15-05-2019)“…Abstract Mutations in MORC2 lead to an axonal form of Charcot-Marie-Tooth (CMT) neuropathy type 2Z. To date, 31 families have been described with mutations in…”
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Optimizing sacral neuromodulation for low anterior resection syndrome: learning from our experience
Published in Colorectal disease (01-12-2020)“…Aim The aim of this work was to review our institutional series of patients treated with sacral neuromodulation (SNM) for low anterior resection syndrome…”
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Bi‐allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2‐NAB complex
Published in European journal of neurology (01-12-2020)“…Mutations in the EGR2 cause demyelinating, but also axonal neuropathies and, except for one family, all reported cases have autosomal dominant inheritance with…”
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Detecting the spin-polarization of edge states in graphene nanoribbons
Published in Nature communications (21-10-2023)“…Low dimensional carbon-based materials can show intrinsic magnetism associated to p-electrons in open-shell π -conjugated systems. Chemical design provides…”
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10
Holographic waveguides in photopolymers
Published in Optics express (21-01-2019)“…The possibilities that offer the holographic optical elements for photovoltaic and "see through display" applications open new windows for holographic…”
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11
Change of the Magnetic Coupling of a Metal–Organic Complex with the Substrate by a Stepwise Ligand Reaction
Published in Nano letters (09-10-2013)“…The surface-assisted intramolecular ligand reaction of a porphyrin molecule adsorbed on Au(111) is studied by scanning tunneling microscopy and spectroscopy…”
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Reversible change of the spin state in a manganese phthalocyanine by coordination of CO molecule
Published in Physical review letters (02-10-2012)“…We show that the magnetic state of individual manganese phthalocyanine (MnPc) molecules on a Bi(110) surface is modified when the Mn2+ center coordinates to CO…”
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Effects of climate change including elevated CO2 concentration, temperature and water deficit on growth, water status, and yield quality of grapevine (Vitis vinifera L.) cultivars
Published in Agricultural water management (01-09-2015)“…•Red Tempranillo yielded more than white Tempranillo.•Drought combined with elevated temperature reduced growth and bunch weight.•Elevated CO2 attenuated the…”
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14
Serum interleukin-8 reflects tumor burden and treatment response across malignancies of multiple tissue origins
Published in Clinical cancer research (15-11-2014)“…Interleukin-8 (IL8) is a chemokine produced by malignant cells of multiple cancer types. It exerts various functions in shaping protumoral vascularization and…”
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Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
Published in Brain (London, England : 1878) (01-01-2016)“…Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form,…”
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16
Real space manifestations of coherent screening in atomic scale Kondo lattices
Published in Nature communications (17-05-2019)“…The interaction among magnetic moments screened by conduction electrons drives quantum phase transitions between magnetically ordered and heavy-fermion ground…”
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17
Dual-Scattering Near-Field Microscope for Correlative Nanoimaging of SERS and Electromagnetic Hotspots
Published in Nano letters (12-04-2017)“…Surface-enhanced Raman spectroscopy (SERS) enables sensitive chemical studies and materials identification, relying on electromagnetic (EM) and…”
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European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience
Published in European journal of neurology (01-06-2017)“…Background and purpose Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy (ERT) has been available since 2006. Uniform…”
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SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V
Published in Clinical genetics (01-03-2013)“…Sánchez‐Ferrero E, Coto E, Beetz C, Gámez J, Corao A, Díaz M, Esteban J, del Castillo E, Moris G, Infante J, Menéndez M, Pascual‐Pascual SI, López de Munaín A,…”
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Ultraviolet-B radiation modifies the quantitative and qualitative profile of flavonoids and amino acids in grape berries
Published in Phytochemistry (Oxford) (01-06-2014)“…The impact of UV-B radiation on grape skin flavonoid and pulp amino acid biosynthesis was studied. The quantitative and qualitative profile of grape skin…”
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