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1
المؤلفون: Inès Mademan, Lauren E. Drake, James Shorter, Kevin J. O'Donovan, Alice Flynn Ford, Andrzej Kochański, Matthew T. Wheeler, Kristof Van Schil, Nicolas Dubuisson, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Jonathan Baets, Devon Bonner, J. Paul Taylor, Peter De Jonghe, Tine Deconinck, Jacinda B. Sampson, Charlotte M. Fare, Anahit Mehrabyan, Peter Van den Bergh, Nicol C. Voermans, Dagmara Kabzińska, Lin Guo, Steven Palmer, Danique Beijer, Hong Joo Kim
المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Centre de référence neuromusculaire
المصدر: Jci Insight, 6, 14
JCI Insight, 6(14). AMER SOC CLINICAL INVESTIGATION INC
JCI Insight
JCI insight, Vol. 6, no.14, p. 1-18 (2021)
Jci Insight, 6
JCI insightمصطلحات موضوعية: Adult, Male, Heterozygote, TIA1, Heterogeneous nuclear ribonucleoprotein, Adolescent, Heterogeneous Nuclear Ribonucleoprotein A1, DNA Mutational Analysis, Biology, Whole Exome Sequencing, Muscular Atrophy, Spinal, Young Adult, Stress granule, All institutes and research themes of the Radboud University Medical Center, Exome Sequencing, medicine, Genetics, Humans, Amyotrophic lateral sclerosis, Child, Genetic Association Studies, Amyotrophic Lateral Sclerosis, RNA, Translation (biology), General Medicine, Middle Aged, medicine.disease, Cell stress, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phenotype, Stress Granules, Cell biology, Pedigree, Chemistry, RNA splicing, Mutation, Female, Human medicine, Neurological disorders, Research Article, Neuroscience
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f44f7da41fba7d5d08ec3934beb42a6Test
https://hdl.handle.net/1887/3214438Test -
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المؤلفون: Radim Mazanec, Luciano Merlini, Eva Nelis, Peter Van den Bergh, Anne-Marie Jacobs, Andrzej Kochański, Joy Irobi, Vincent Timmerman, Dirk Fischer, Jonathan Baets, Wim Robberecht, Tine Deconinck, Albena Jordanova, Pavel Seeman, Els De Vriendt, Raul Juntas Morales, Michaela Auer-Grumbach, Zoran Mitrović, John H. J. Wokke, Ines Dierick, Vedrana Milic Rasic, A. T. J. M. Helderman-van den Enden, Peter De Jonghe
المصدر: Brain
مصطلحات موضوعية: Male, Genotype, HSP27 Heat-Shock Proteins, Mutation, Missense, Biology, Protein Serine-Threonine Kinases, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, GTP-Binding Protein gamma Subunits, medicine, Missense mutation, Humans, Heat-Shock Proteins, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Base Sequence, Genetic heterogeneity, Mosaicism, Chromosomes, Human, Pair 11, Haplotype, DNA Helicases, Spinal muscular atrophy, VAPB, medicine.disease, Multifunctional Enzymes, 3. Good health, Neoplasm Proteins, Pedigree, DCTN1, Electrophysiology, Phenotype, Haplotypes, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery, RNA Helicases, Molecular Chaperones, Distal HMN, BSCL2, HSPB1, HSPB8, SETX, Marie-Tooth-disease, amyotrophic-lateral-sclerosis, spinal muscular-atrophy, SEIP congenital lipodystrophy, familial spastic paraplegia, RNA synthetase mutations, sensory neuron diseases, HMN type-V, Silver-syndrome, electrophysiologic findings
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6e645225795d20a3d550af3d87b80dfTest
http://doc.rero.ch/record/299093/files/awn029.pdfTest -
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المؤلفون: Peter Van den Bergh, Sabrina Sacconi, Andreas Ferbert, Matthias Vorgerd, Markus Bergmann, Jörg B. Schulz, Joachim Weis, Jean-Jacques Martin, Marcus Deschauer, J Elisa Bach, Peter De Jonghe, Jan Bürmann, Wolfram Kress, Kristl G. Claeys, Eva Neuen-Jacob, J. Michael Schröder, Anna-Lena Semmler, Rudolf A. Kley, Claus Liebe, Roland Anderheiden, Oliver J. Müller
المساهمون: Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.121
Orphanet Journal of Rare Diseases, Vol. 9, p. 121 [1-13] (2014)
Orphanet journal of rare diseases 9(1), 121 (2014). doi:10.1186/s13023-014-0121-9
Orphanet journal of rare diseases
Orphanet journal of rare diseases 9, 121 (2014). doi:10.1186/s13023-014-0121-9مصطلحات موضوعية: Male, Pathology, bcl-2 associated athanogene protein 3, 610 Medical sciences Medicine, 0302 clinical medicine, Genetics(clinical), Pharmacology (medical), FLNC, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Genetics, Medicine(all), 0303 health sciences, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, Phenotype, Pedigree, 3. Good health, Mutation (genetic algorithm), Female, Protein aggregation, Polyneuropathy, Myopathies, Structural, Congenital, Adult, medicine.medical_specialty, Adolescent, Next generation sequencing, Biology, MFM, Hearing impairment, Young Adult, 03 medical and health sciences, medicine, Humans, ddc:610, Muscle, Skeletal, Gene, Adaptor Proteins, Signal Transducing, Aged, 030304 developmental biology, Nerve biopsy, Genetic heterogeneity, Research, medicine.disease, Human genetics, Mutation, Human medicine, Apoptosis Regulatory Proteins, 030217 neurology & neurosurgery
وصف الملف: application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb47c88657f1d9f8b9fc70a4ba9888e7Test
https://hal.archives-ouvertes.fr/hal-01117408Test