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Journal Article
Revista de neurologia, 2012, Volume 54, pp. S31 - 39
Journal Article
Revista de Neurologia, ISSN 0210-0010, 08/2017, Volume 65, Issue 4, pp. 157 - 160
Journal Article
Journal of the American Chemical Society, ISSN 0002-7863, 05/2017, Volume 139, Issue 17, pp. 6120 - 6127
The energy landscape of a supramolecular material can include different molecular packing configurations that differ in stability and function. We report here... 
J-AGGREGATE | NANOFIBERS | KINETICS | AQUEOUS-MEDIA | DYNAMICS | ENERGY LANDSCAPES | ORGANIC MATERIALS | POLYMERIZATION | CHARGE-TRANSFER EXCITONS | PORPHYRIN | CHEMISTRY, MULTIDISCIPLINARY | Oxidation-reduction reaction | Usage | Chemical properties | Catalysis | Hydrogen | Index Medicus
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 10/2013, Volume 84, Issue 10, pp. 1119 - 1125
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2017, Volume 12, Issue 6, p. e0178376
Objective Charcot-Marie-Tooth 1A (CMT1A) disease is the most common inherited neuropathy that lacks of therapy and of molecular markers to assess disease... 
RELAPSING MULTIPLE-SCLEROSIS | FREE-TRYPTOPHAN | ORAL FINGOLIMOD | CMT NEUROPATHY SCORE | MULTIDISCIPLINARY SCIENCES | DISEASE | PHENOTYPE | CHAIN AMINO-ACIDS | PLACEBO-CONTROLLED TRIAL | CANCER | EXERCISE | Biomarkers - metabolism | Metabolomics | Prospective Studies | Skin - metabolism | Humans | Middle Aged | Biomarkers - analysis | Metabolome | Proteins - analysis | Biomarkers - blood | Charcot-Marie-Tooth Disease - pathology | Proteins - metabolism | Energy Metabolism | Adult | Charcot-Marie-Tooth Disease - metabolism | Charcot-Marie-Tooth Disease - blood | Skin - pathology | Development and progression | Skin | Diagnosis | Health aspects | Charcot-Marie-Tooth disease | Therapy | Plasma | Energy metabolism | Multiple sclerosis | Nuclear magnetic resonance--NMR | Lipids | Amino acids | Leucine | Neuropathy | Protein turnover | Proteins | Coupling (molecular) | Sarcopenia | Mitochondria | Metabolites | Water analysis | Classification | Longitudinal studies | Lipid metabolism | Discriminant analysis | Markers | Mass spectroscopy | Liquid chromatography | Metabolism | Patients | Studies | Protein arrays | Depletion | Biopsy | Protein synthesis | Correlation analysis | Biomarkers | Catabolism | Mass spectrometry | Malalties hereditàries | Amiotròfia neural progressiva de Charcot-Marie-Tooth | Genetic diseases | Nuclear magnetic resonance | NMR
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2019, Volume 28, Issue 10, pp. 1629 - 1644
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... 
FALSE DISCOVERY RATE | TRANSPORT | COMPLEX | PROTEIN | KINESIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | MOTOR | GENETICS & HEREDITY | ZIC GENES
Journal Article
European Journal of Neurology, ISSN 1351-5101, 06/2017, Volume 24, Issue 6, pp. 768 - e31
Journal Article
Topology and its Applications, ISSN 0166-8641, 2009, Volume 156, Issue 18, pp. 3109 - 3113
Let be a uniform space and the Banach space of bounded and uniformly continuous functions from into , provided with its supremum norm. The aim of this paper is... 
Uniform space | Extension of uniformly continuous functions | Extreme point | Samuel compactification | MATHEMATICS | MATHEMATICS, APPLIED
Journal Article
Revista del Laboratorio Clinico, ISSN 1888-4008, 10/2016, Volume 9, Issue 4, pp. 195 - 202
Myotonia congenita is the most common form of non-dystrophic myotonia. This myopathy is caused by mutations in the CLCN1 gene, encoding the main skeletal... 
Becker | Thomsen | Myotonia congenita | CLCN1
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 10/2013, Volume 84, Issue 10, pp. 1119 - 1125
Journal Article