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1. Full Text Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype
by Lucariello, Mario and Vidal, Enrique and Vidal, Silvia and Saez, Mauricio and Roa, Laura and Huertas, Dori and Pineda, Mercè and Dalfó, Esther and Dopazo, Joaquin and Jurado, Paola and Armstrong, Judith and Esteller, Manel
Human Genetics, ISSN 0340-6717, 12/2016, Volume 135, Issue 12, pp. 1343 - 1354
Classical Rett syndrome (RTT) is a neurodevelopmental disorder where most of cases carry MECP2 mutations. Atypical RTT variants involve mutations in CDKL5 and... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | INTELLECTUAL DISABILITY | PROTEIN | DISRUPTION | GENETICS & HEREDITY | EPILEPSY | RECEPTORS | SHANK3 | Caenorhabditis elegans - genetics | Humans | Protein-Serine-Threonine Kinases - genetics | Child, Preschool | Forkhead Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Methyl-CpG-Binding Protein 2 - genetics | Rett Syndrome - physiopathology | Genetic Variation | Carrier Proteins - genetics | Exome - genetics | Animals | DNA Mutational Analysis | Adolescent | Adult | Female | High-Throughput Nucleotide Sequencing | Mutation | Rett Syndrome - genetics | Child | Receptors, Nicotinic - genetics | Medical colleges | Genetic aspects | Rett syndrome | Malalties cerebrals | Phenotype | Fenotip | Mutació (Biologia) | Amino acid sequence | Seqüència d'aminoàcids | Síndrome de Rett | Mutation (Biology) | Brain diseases | Original Investigation
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2. Full Text The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
by Vidal, Silvia and Brandi, Núria and Pacheco, Paola and Gerotina, Edgar and Blasco, Laura and Trotta, Jean-Rémi and Derdak, Sophia and Del Mar O'Callaghan, Maria and Garcia-Cazorla, Àngels and Pineda, Mercè and Armstrong, Judith and Aguirre, Francisco Javier and Aleu, Montserrat and Alonso, Xènia and Alsius, Mercè and Inmaculada Amorós, Maria and Antiñolo, Guillermo and Aquino, Lourdes and Arellano, Carmen and Arriola, Gema and Arteaga, Rosa and Baena, Neus and Barcos, Montserrat and Belzunces, Nuria and Boronat, Susana and Camacho, Tomás and Campistol, Jaume and Del Campo, Miguel and Campo, Andrea and Cancho, Ramon and Candau, Ramon and Canós, Ignacio and Carrascosa, María Del Carmen and Carratalá-Marco, Francisco and Casano, Jovaní and Castro, Pedro and Cobo, Ana and Colomer, Jaime and Conejo, David and Corrales, Maria José and Cortés, Rocío and Cruz, Gabriel and Csányi, Gábor and De Santos, María Teresa and De Toledo, María and Toro, Mireia Del and Domingo, Rosario and Duat, Anna and Duque, Rosario and Esparza, Ana María and Fernández, Rosa and Fons, Maria Carme and Fontalba, Ana and Galán, Enrique and Gallano, Pia and Gamundi, María José and García, Pedro Luis and García, María Del Mar and García-Barcina, María and Garcia-Catalan, María Jesús and García-Miñaur, Sixto and Garcia-Peñas, Juan Jose and García-Silva, María Teresa and Gassio, Rosa and Geán, Esther and Gil, Belén and Gökben, Sarenur and Gonzalez, Luis and Gonzalez, Veronica and Gonzalez, Julieta and González, Gloria and Guillén, Encarna and Guitart, Miriam and Guitet, Montserrat and Gutierrez, Juan Manuel and Gutiérrez, Eva and Herranz, Jose Luís and Iglesias, Gemma and Karacic, Iva and Lahoz, Carlos H and Lao, José Ignacio and Lapunzina, Pablo and Lautre-Ecenarro, María Jesús and Lluch, María Dolores and López, Laura and López-Ariztegui, Asunción and Macaya, Alfons and Marín, Rosario and Marquez, Charles M. Lourenço and Martín, Elena and Martínez, Beatriz and Martínez-Salcedo, Eduardo and Mas, María José and Mateo, Gonzalo and Mendez, Pilar and Jimenez, Amparo Morant and Moreno, Sira and Mulas, Fernando and Narbona, Juan and Nascimento, Andrés and ... and Rett Working Grp and Rett Working Group
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 12288 - 11
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been... 
INTELLECTUAL DISABILITY | CRITERIA | AUTISM | DE-NOVO MUTATIONS | DATABASE | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | DYSFUNCTION | EPILEPSY | GENOME | DISCOVERY | Rett Syndrome - diagnosis | Humans | Protein-Serine-Threonine Kinases - genetics | DNA Copy Number Variations - genetics | Forkhead Transcription Factors - genetics | Genetic Testing - methods | Nerve Tissue Proteins - genetics | Methyl-CpG-Binding Protein 2 - genetics | Whole Exome Sequencing | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Mutation | Rett Syndrome - genetics | Cohort Studies | Foxg1 protein | Methyl-CpG binding protein | MeCP2 protein | Etiology | Rett syndrome | Neurodevelopmental disorders | Age | Genetic screening
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3. Full Text Miglustat in Niemann-Pick disease type C patients: A review
by Pineda, Mercè and Walterfang, Mark and Patterson, Marc C
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 08/2018, Volume 13, Issue 1, pp. 140 - 21
Objective: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive... 
Efficacy | Biomarker | Miglustat | Niemann-Pick disease type C | MEDICINE, RESEARCH & EXPERIMENTAL | ADULT FORM | NEUROFIBRILLARY TANGLES | SUSPICION INDEX | NEUROLOGICAL MANIFESTATIONS | ITALIAN PATIENTS | N-BUTYLDEOXYNOJIRIMYCIN | LIPID-TRAFFICKING | GAUCHER-DISEASE | PEDIATRIC-PATIENTS | GENETICS & HEREDITY | RAPID DIAGNOSIS | Niemann-Pick disease | Treatment outcome | Research | Drug therapy | Analysis | Studies | Neurodegeneration | Biomarkers | Lipids | Systematic review | Dysphagia | Peripheral neuropathy | Patients | Age | Cholesterol
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4. Full Text Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients
by Pereira, Catia S and Pérez-Cabezas, Begoña and Ribeiro, Helena and Maia, M. Luz and Cardoso, M. Teresa and Dias, Ana F and Azevedo, Olga and Ferreira, M. Fatima and Garcia, Paula and Rodrigues, Esmeralda and Castro-Chaves, Paulo and Martins, Esmeralda and Aguiar, Patricio and Pineda, Mercè and Amraoui, Yasmina and Fecarotta, Simona and Leão-Teles, Elisa and Deng, Shenglou and Savage, Paul B and Macedo, M. Fatima
Frontiers in Immunology, ISSN 1664-3224, 06/2019, Volume 10
The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer... 
Dendritic cells | T cells | Antigens | Metabolism, Inborn errors of | Lysosomes | Models | Rats as laboratory animals | Research | monocytes | lysosomal storage diseases | dendritic cells | CD1d | CD1b | lipid antigen presentation
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5. Full Text Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges
by Vidal, S and Xiol, C and Pascual-Alonso, A and O'Callaghan, M and Pineda, M and Armstrong, J
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, ISSN 1661-6596, 08/2019, Volume 20, Issue 16, p. 3925
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that primarily affects females, resulting in severe cognitive and physical disabilities, and... 
DEFECTS | Rett-like | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | CHEMISTRY, MULTIDISCIPLINARY | INTELLECTUAL DISABILITY | MECP2 | WDR45 MUTATIONS | PYRAMIDAL NEURONS | genetics | Rett syndrome | MOUSE MODEL | PATIENT | NGS | DEFICITS | BRAIN
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6. Full Text Assessing the effectiveness of miglustat in Niemann-Pick disease type C
by Hendriksz, Christian J and Pineda, Mercè and Walterfang, Mark and Patterson, Marc C
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S61 - S61
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7. Full Text X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
by Xiol, C and Vidal, S and Pascual-Alonso, A and Blasco, L and Brandi, N and Pacheco, P and Gerotina, E and O'Callaghan, M and Pineda, M and Armstrong, J and Aguirre, FJ and Aleu, M and Alonso, X and Alsius, M and Amoros, M and Antinolo, G and Aquino, L and Arellano, C and Arriola, G and Arteaga, R and Baena, N and Barcos, M and Belzunces, N and Boronat, S and Camacho, T and Campistol, J and del Campo, M and Campo, A and Cancho, R and Candau, R and Canos, I and Carrascosa, MD and Carratala-Marco, F and Casano, J and Castro, P and Cobo, A and Colomer, J and Conejo, D and Corrales, MJ and Cortes, R and Cruz, G and Csanyi, G and de Santos, MT and de Toledo, M and Del Campo, M and Del Toro, M and Domingo, R and Duat, A and Duque, R and Esparza, AM and Fernandez, R and Fons, MC and Fontalba, A and Galan, E and Gallano, P and Gamundi, MJ and Garcia, PL and Garcia, MD and Garcia-Barcina, M and Garcia-Catalan, MJ and Garcia-Cazorla, A and Garcia-Minaur, S and Garcia-Penas, JJ and Garcia-Silva, MT and Gassio, R and Gean, E and Gil, B and Gokben, S and Gonzalez, L and Gonzalez, V and Gonzalez, J and Gonzalez, G and Guillen, E and Guitart, M and Guitet, M and Gutierrez, JM and Gutierrez, E and Herranz, JL and Iglesias, G and Karacic, I and Lahoz, CH and Lao, JI and Lapunzina, P and Lautre-Ecenarro, MJ and Lluch, MD and Lopez, L and Lopez-Ariztegui, A and Macaya, A and Marin, R and Marquez, CML and Martin, E and Martinez, B and Martinez-Salcedo, E and Mas, MJ and Mateo, G and Mendez, P and Jimenez, AM and Moreno, S and Mulas, F and Narbona, J and ... and Rett Working Grp and Rett Working Group
SCIENTIFIC REPORTS, ISSN 2045-2322, 08/2019, Volume 9, Issue 1, pp. 11983 - 9
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X... 
MECP2 MUTATIONS | PATTERNS | METHYLATION | GENE | MULTIDISCIPLINARY SCIENCES | BRAIN | Phenotypes | Transcription | Phenotypic variations | Blood | Neurological diseases | Methyl-CpG binding protein | MeCP2 protein | X Chromosomes | Rett syndrome | Alleles | Mutation | Methylation | Chromosomes
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8. Full Text Recommendations on the diagnosis and management of Niemann-Pick disease type C
by Wraith, James E and Baumgartner, Matthias R and Bembi, Bruno and Covanis, Athanasios and Levade, Thierry and Mengel, Eugen and Pineda, Mercè and Sedel, Frédéric and Topçu, Meral and Vanier, Marie T and Widner, Hakan and Wijburg, Frits A and Patterson, Marc C and NP-C Guidelines Working Grp and NP-C Guidelines Working Group and Lund University and Neurologi, Lund and Neurology, Lund and Lunds universitet
Molecular Genetics and Metabolism, ISSN 1096-7192, 2009, Volume 98, Issue 1, pp. 152 - 165
Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and... 
Screening | Treatment | Diagnosis | Niemann-Pick disease type C | Monitoring | Guidelines | MEDICINE, RESEARCH & EXPERIMENTAL | NEUROFIBRILLARY TANGLES | GLYCOLIPID BIOSYNTHESIS | BONE-MARROW-TRANSPLANTATION | CLINICAL SPECTRUM | LYSOSOMAL STORAGE DISORDERS | N-BUTYLDEOXYNOJIRIMYCIN | SUPRANUCLEAR OPHTHALMOPLEGIA | MAGNETIC-RESONANCE-SPECTROSCOPY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | I GAUCHER-DISEASE | CHOLESTEROL HOMEOSTASIS | Niemann-Pick Disease, Type C - therapy | Humans | Middle Aged | Child, Preschool | Infant | Young Adult | Mass Screening | Adolescent | Adult | Niemann-Pick Disease, Type C - diagnosis | Niemann-Pick Disease, Type C - genetics | Child | Infant, Newborn | Neurologi | Clinical Medicine | Neurology | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin
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9. Full Text GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunction
by Montero, Raquel and Yubero, Delia and Villarroya, Joan and Henares, Desiree and Jou, Cristina and Rodríguez, Maria Angeles and Ramos, Federico and Nascimento, Andrés and Ortez, Carlos Ignacio and Campistol, Jaume and Perez-Dueñas, Belen and O'Callaghan, Mar and Pineda, Mercedes and Garcia-Cazorla, Angeles and Oferil, Jaume Colomer and Montoya, Julio and Ruiz-Pesini, Eduardo and Emperador, Sonia and Meznaric, Marija and Campderros, Laura and Kalko, Susana G and Villarroya, Francesc and Artuch, Rafael and Jimenez-Mallebrera, Cecilia
PLoS ONE, ISSN 1932-6203, 02/2016, Volume 11, Issue 2, p. e0148709
Background We previously described increased levels of growth and differentiation factor 15 (GDF-15) in skeletal muscle and serum of patients with... 
CRITERIA | THERAPY | BIOMARKER | INHIBITORY CYTOKINE-1 | MULTIDISCIPLINARY SCIENCES | GROWTH-DIFFERENTIATION FACTOR-15 | DISORDERS | MUTATIONS | INDUCTION | EXPRESSION | DEFICIENCY | Cell Line | Reproducibility of Results | Humans | Child, Preschool | Infant | Male | Muscle, Skeletal - metabolism | Biomarkers - blood | Muscle Fibers, Skeletal - metabolism | RNA, Messenger - metabolism | Case-Control Studies | Myoblasts - metabolism | Animals | Growth Differentiation Factor 15 - blood | Fibroblast Growth Factors - blood | Sensitivity and Specificity | Adolescent | Female | ROC Curve | Mice | Neuromuscular Diseases - blood | Mitochondrial Diseases - blood | Child | Cohort Studies | Medical research | RNA | Muscles | Medicine, Experimental | Fibroblast growth factors | Children | Diseases | Oligomycin | Pediatrics | Fibroblast growth factor | Biomedical research | Disease | Mental disorders | Disease detection | Biochemistry | Mitochondria | Enzyme-linked immunosorbent assay | Obesity | Myotubes | Cytokines | Nutrition | Secretion | Gene expression | Patients | Skeletal muscle | Hospitals | Biopsy | Biomarkers | Diabetes | Mutation | Molecular biology | Proteins | Infants | Mitocondris | Proteïnes
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10. Full Text Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: Findings from the ZOOM study
by Bauer, Peter and Balding, David J and Klünemann, Hans H and Linden, David E. J and Ory, Daniel S and Pineda, Mercè and Priller, Josef and Sedel, Frederic and Muller, Audrey and Chadha-Boreham, Harbajan and Welford, Richard W. D and Strasser, Daniel S and Patterson, Marc C
Human Molecular Genetics, ISSN 0964-6906, 11/2013, Volume 22, Issue 21, pp. 4349 - 4356
Niemann-Pick disease type C (NP-C) is a rare, autosomal-recessive, progressive neurological disease caused by mutations in either the NPC1 gene (in 95% of... 
Glycoproteins - genetics | Genetic Testing | Niemann-Pick Disease, Type C - psychology | Humans | Middle Aged | Genotype | Male | Niemann-Pick Disease, Type C - physiopathology | Sequence Analysis, DNA | Membrane Glycoproteins - genetics | Genetic Variation | Young Adult | Carrier Proteins - genetics | Phenotype | Age of Onset | Alleles | Aged, 80 and over | Adult | Female | Aged | Mutation | Niemann-Pick Disease, Type C - diagnosis | Niemann-Pick Disease, Type C - genetics | Age
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11. Full Text Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
by Quijada-Fraile, Pilar and O'Callaghan, Mar and Martín-Hernández, Elena and Montero, Raquel and Garcia-Cazorla, Àngels and de Aragón, Ana M.artínez and Muchart, Jordi and Málaga, Ignacio and Pardo, Rafael and García-Gonzalez, Pedro and Jou, Cristina and Montoya, Julio and Emperador, Sonia and Ruiz-Pesini, Eduardo and Arenas, Joaquín and Martin, Miguel A.ngel and Ormazabal, Aida and Pineda, Mercè and García-Silva, María T and Artuch, Rafael
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, p. 217
Background: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that presents with profound cerebral folate deficiency and other features.... 
Neuroimaging | MEDICINE, RESEARCH & EXPERIMENTAL | 5-METHYLTETRAHYDROFOLATE | MRI | DISORDERS | Cerebral folate deficiency | CEREBROSPINAL-FLUID | CHILDREN | Mitochondrial DNA deletion | MONITOR PROGRESSION | GENETICS & HEREDITY | SCALE | Kearns-Sayre syndrome | MITOCHONDRIAL DISEASES | BRAIN | Folinic acid treatment | Folic Acid Deficiency - metabolism | Leucovorin - administration & dosage | Folic Acid Deficiency - diet therapy | Follow-Up Studies | Humans | Kearns-Sayre Syndrome - diet therapy | Magnetic Resonance Imaging - methods | Male | Vitamin B Complex - administration & dosage | Brain - metabolism | Young Adult | Kearns-Sayre Syndrome - metabolism | Adolescent | Adult | Female | Child | Dietary Supplements | Deficiency diseases | Complications and side effects | Care and treatment | Leucovorin | Dosage and administration | Mitochondrial diseases | Diagnosis | Research | Risk factors | Medicine, Experimental | Medical research
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12. Full Text Plasma coenzyme Q10 status is impaired in selected genetic conditions
by Montero, Raquel and Yubero, Delia and Salgado, Maria C and González, María Julieta and Campistol, Jaume and O’Callaghan, Maria del Mar and Pineda, Mercè and Delgadillo, Verónica and Maynou, Joan and Fernandez, Guerau and Montoya, Julio and Ruiz-Pesini, Eduardo and Meavilla, Silvia and Neergheen, Viruna and García-Cazorla, Angels and Navas, Placido and Hargreaves, Iain and Artuch, Rafael
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 1 - 8
Identifying diseases displaying chronic low plasma Coenzyme Q10 (CoQ) values may be important to prevent possible cardiovascular dysfunction. The aim of this... 
Neurological diseases | Plasma | Nutrient deficiency | Inborn errors of metabolism | Coenzyme Q10 | Mucopolysaccharidosis | High-performance liquid chromatography | Genetic screening
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