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المؤلفون: Kevin J Ferrick, Alex Conant, Jay J Chudow, Syona S Shetty, Rahul Grover, John D Fisher, Andrew Krumerman
المصدر: Journal of Integrative Cardiology Open Access. :1-4
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المؤلفون: Noriko Miyake, Tsutomu Ogata, Irene Stolte-Dijkstra, Dimitra Micha, Cas Simons, Zoya Kingsbury, Annette Bley, Alex Conant, Bryan R. Lajoie, Ferdy K. Cayami, Dennis Lal, Amy Pizzino, Andrea Superti-Furga, Bernd A. Neubauer, Shihoko Kimura-Ohba, Deborah A Sival, Stephen J. Bent, Andreas Hahn, Sean Humphray, Ryan J. Taft, Adeline Vanderver, Nicole I. Wolf, Karen W. Gripp, Naomichi Matsumoto, Joanna Crawford, Nicole Ulrick, Keiichi Ozono, Dorothy I. Bulas, Richard J. Sinke
المساهمون: Movement Disorder (MD), Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatric surgery, Human genetics, AMS - Trauma and Reconstruction, AMS - Growth and Development, ACS - Microcirculation, ACS - Atherosclerosis & ischemic syndromes
المصدر: Neurogenetics
Neurogenetics, 18(4), 185-194. SPRINGER
Miyake, N, Wolf, N I, Cayami, F K, Crawford, J, Bley, A, Bulas, D, Conant, A, Bent, S J, Gripp, K W, Hahn, A, Humphray, S, Kimura-Ohba, S, Kingsbury, Z, Lajoie, B R, Lal, D, Micha, D, Pizzino, A, Sinke, R J, Sival, D, Stolte-Dijkstra, I, Superti-Furga, A, Ulrick, N, Taft, R J, Ogata, T, Ozono, K, Matsumoto, N, Neubauer, B A, Simons, C & Vanderver, A 2017, ' X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 ', Neurogenetics, vol. 18, no. 4, pp. 185-194 . https://doi.org/10.1007/s10048-017-0520-x
Neurogenetics, 18(4), 185-194. Springer Verlag
Neurogenetics, vol. 18, no. 4, pp. 185-194مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Spondylometaphyseal dysplasia, VARIANTS, PHENOTYPE, Exon, Dysarthria, 0302 clinical medicine, Genes, X-Linked, Mitochondrial leukodystrophy, MINERALIZATION, Genetics (clinical), Myelin Sheath, Genetics, Apoptosis Inducing Factor, Phenotype, Pedigree, Myelin, Original Article, medicine.symptom, Hypomyelination, Retinopathy, Whole exome sequencing (WES), medicine.medical_specialty, Ataxia, Hearing loss, DISORDERS, LEUKODYSTROPHIES, Biology, Osteochondrodysplasias, CHONDRODYSPLASIA, 03 medical and health sciences, Cellular and Molecular Neuroscience, Intellectual Disability, APOPTOSIS-INDUCING FACTOR, medicine, Humans, Genetic Predisposition to Disease, Spasticity, AIFM1 gene, SPECTRUM, NEUROPATHY, Sequence Analysis, DNA, medicine.disease, Human genetics, 030104 developmental biology, Mutation, 030217 neurology & neurosurgery, MENTAL-RETARDATION
وصف الملف: application/pdf
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المؤلفون: Asako Takanohashi, Simona Orcesi, Chloe A Stutterd, Guy Helman, Keith Van Haren, Camilo Toro, Davide Tonduti, Adeline Vanderver, A. B. Moser, Heather Gordish-Dressman, Nicole Ulrick, Joseph J. Orsini, Raphaela Goldbach Mansky, Francesco Gavazzi, Thaís Armangue, Alex Conant, Marjo S. van der Knaap, Alejandro D. Iglesias, Norah Nahhas, Richard Jones, Mark A. Morrissey
المساهمون: Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatric surgery, Amsterdam Reproduction & Development (AR&D)
المصدر: Molecular Genetics and Metabolism, 122(3), 134-139. Academic Press Inc.
MOLECULAR GENETICS AND METABOLISM
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Armangue, T, Orsini, J J, Takanohashi, A, Gavazzi, F, Conant, A, Ulrick, N, Morrissey, M A, Nahhas, N, Helman, G, Gordish-Dressman, H, Orcesi, S, Tonduti, D, Stutterd, C, van Haren, K, Toro, C, Iglesias, A D, van der Knaap, M S, Goldbach Mansky, R, Moser, A B, Jones, R O & Vanderver, A 2017, ' Neonatal detection of Aicardi Goutières Syndrome by increased C26 : 0 lysophosphatidylcholine and interferon signature on newborn screening blood spots ', Molecular Genetics and Metabolism, vol. 122, no. 3, pp. 134-139 . https://doi.org/10.1016/j.ymgme.2017.07.006مصطلحات موضوعية: Male, 0301 basic medicine, Endocrinology, Diabetes and Metabolism, Central nervous system, Nervous System Malformations, Sensitivity and Specificity, Biochemistry, Article, 03 medical and health sciences, chemistry.chemical_compound, Autoimmune Diseases of the Nervous System, Neonatal Screening, Endocrinology, Tandem Mass Spectrometry, Interferon, Genetics, medicine, Humans, Molecular Biology, Chromatography, High Pressure Liquid, Retrospective Studies, Inflammation, Newborn screening, Spots, business.industry, Leukodystrophy, Infant, Newborn, Infant, Lysophosphatidylcholines, Phosphoproteins, medicine.disease, Exodeoxyribonucleases, 030104 developmental biology, Lysophosphatidylcholine, medicine.anatomical_structure, chemistry, Child, Preschool, Mutation, Immunology, Aicardi–Goutières syndrome, Female, Adrenoleukodystrophy, lipids (amino acids, peptides, and proteins), Dried Blood Spot Testing, Interferons, Transcriptome, business, Chromatography, Liquid, medicine.drug
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المؤلفون: Julian Curiel, Adeline Vanderver, Sarah H. Evans, Guy Helman, Cas Simons, Parisa Sabetrasekh, Miriam Bloom, Matthew T. Whitehead, Steven A. Moore, Amy Pizzino, Alex Conant, Ryan J. Taft, Jennifer L. Murphy
المصدر: Journal of child neurology. 33(10)
مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Cell Adhesion Molecules, Neuronal, Sural nerve, 030105 genetics & heredity, Compound heterozygosity, Article, 03 medical and health sciences, Myelin, 0302 clinical medicine, Ranvier's Nodes, medicine, Humans, Child, Exome sequencing, Arthrogryposis, Arthrogryposis multiplex congenita, business.industry, Leukodystrophy, Neurodegeneration, medicine.disease, Magnetic Resonance Imaging, Axons, medicine.anatomical_structure, nervous system, Pediatrics, Perinatology and Child Health, Mutation, Female, Neurology (clinical), medicine.symptom, business, Neuroglia, 030217 neurology & neurosurgery, Demyelinating Diseases
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المؤلفون: James A. Kennison, Monica T. Cooper, Alex Conant
المصدر: Genetics. 185:811-822
مصطلحات موضوعية: Male, Cell Survival, Mutant, RNA polymerase II, Investigations, Biology, Evolution, Molecular, Transcription (biology), Genetics, Animals, Drosophila Proteins, Gene, Phylogeny, Polytene chromosome, DNA Helicases, biology.organism_classification, Chromosomes, Mammalian, Chromatin, Drosophila melanogaster, Fertility, Mutation, biology.protein, Female, Drosophila Protein