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1دورية أكاديمية
المؤلفون: Milena Ślęczkowska, Rowida Almomani, Margherita Marchi, Erika Salvi, Bianca T A de Greef, Maurice Sopacua, Janneke G J Hoeijmakers, Patrick Lindsey, Stephen G Waxman, Giuseppe Lauria, Catharina G Faber, Hubert J M Smeets, Monique M Gerrits
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 22, p 14095 (2022)
مصطلحات موضوعية: idiopathic small fiber neuropathy, ion channel, MIPs-NGS, neuropathic pain, peripheral neuropathy, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Rowida Almomani, Margherita Marchi, Maurice Sopacua, Patrick Lindsey, Erika Salvi, Bart de Koning, Silvia Santoro, Stefania Magri, Hubert J M Smeets, Filippo Martinelli Boneschi, Rayaz A Malik, Dan Ziegler, Janneke G J Hoeijmakers, Gidon Bönhof, Sulayman Dib-Hajj, Stephen G Waxman, Ingemar S J Merkies, Giuseppe Lauria, Catharina G Faber, Monique M Gerrits, on behalf on the PROPANE Study Group
المصدر: PLoS ONE, Vol 16, Iss 3, p e0248250 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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3دورية أكاديمية
المؤلفون: Rowida Almomani, Margherita Marchi, Maurice Sopacua, Patrick Lindsey, Erika Salvi, Bart de Koning, Silvia Santoro, Stefania Magri, Hubert J M Smeets, Filippo Martinelli Boneschi, Rayaz R Malik, Dan Ziegler, Janneke G J Hoeijmakers, Gidon Bönhof, Sulayman Dib-Hajj, Stephen G Waxman, Ingemar S J Merkies, Giuseppe Lauria, Catharina G Faber, Monique M Gerrits, on behalf on the PROPANE Study Group
المصدر: PLoS ONE, Vol 15, Iss 9, p e0238467 (2020)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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4دورية أكاديمية
المؤلفون: Bianca T A de Greef, Janneke G J Hoeijmakers, Emma E Wolters, Hubertus J M Smeets, Arthur van den Wijngaard, Ingemar S J Merkies, Catharina G Faber, Monique M Gerrits
المصدر: PLoS ONE, Vol 11, Iss 2, p e0148316 (2016)
وصف الملف: electronic resource
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المؤلفون: Group, Rowida Almomani, Maurice Sopacua, Margherita Marchi, Milena Ślęczkowska, Patrick Lindsey, Bianca T. A. de Greef, Janneke G. J. Hoeijmakers, Erika Salvi, Ingemar S. J. Merkies, Maryam Ferdousi, Rayaz A. Malik, Dan Ziegler, Kasper W. J. Derks, Gidon Boenhof, Filippo Martinelli-Boneschi, Daniele Cazzato, Raffaella Lombardi, Sulayman Dib-Hajj, Stephen G. Waxman, Hubert J. M. Smeets, Monique M. Gerrits, Catharina G. Faber, Giuseppe Lauria, on behalf of the PROPANE Study Group on behalf of the PROPANE Study
المصدر: International Journal of Molecular Sciences; Volume 24; Issue 9; Pages: 8278
مصطلحات موضوعية: diabetic neuropathy, small fiber neuropathy, neuropathic pain, molecular inversion probes, next generation sequencing, sodium channel genes variants
وصف الملف: application/pdf
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المؤلفون: Peng Zhao, Julie I R Labau, Matthew Alsaloum, Daniel Sosniak, Rowida Almomani, Catharina G. Faber, Monique M. Gerrits, Janneke G J Hoeijmakers, Sulayman D. Dib-Hajj, Giuseppe Lauria, Stephen G. Waxman
المساهمون: RS: MHeNs - R3 - Neuroscience, Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9)
المصدر: Journal of Neurophysiology, 126(3), 827-839. American Physiological Society
J Neurophysiolمصطلحات موضوعية: 0301 basic medicine, tetrodotoxin-sensitive voltage-gated sodium channels, Physiology, Action Potentials, Gating, medicine.disease_cause, Rats, Sprague-Dawley, Pathogenesis, sodium channel beta subunits, 0302 clinical medicine, Dorsal root ganglion, Ganglia, Spinal, Cells, Cultured, Neurons, Mutation, FEBRILE SEIZURES, Chemistry, General Neuroscience, PAIN, Cell biology, medicine.anatomical_structure, voltage-gated sodium (Nav) channels, Gain of Function Mutation, Neuropathic pain, VOLTAGE-GATED SODIUM, INACTIVATION, Research Article, EXPRESSION, Small Fiber Neuropathy, DIAGNOSTIC-CRITERIA, Mutation, Missense, GENERALIZED EPILEPSY, 03 medical and health sciences, Downregulation and upregulation, medicine, small fiber neuropathy (SFN), Animals, Humans, NA(V)1.8 MUTATION, beta 2 subunit, Voltage-Gated Sodium Channel beta-2 Subunit, Sodium channel, medicine.disease, GENE, Rats, HEK293 Cells, 030104 developmental biology, Peripheral neuropathy, 030217 neurology & neurosurgery, PERIPHERAL NEUROPATHY
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::908b3e5aa3e0f5d36c5c4503620817f6
https://doi.org/10.1152/jn.00184.2021 -
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المؤلفون: Maria Ponson-Wever, Ivo Peters, Bas C. Stunnenberg, Mieke M. van Haelst, Monique M. Gerrits, Eline A. Verberne, Charlotte A. Haaxma
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Human Genetics, Graduate School
المصدر: Journal of Pediatric Neurology, 19(3):2000024, 189-192. Thieme Medical Publishers
Journal of Pediatric Neurology, 19, 03, pp. 189-192
Journal of Pediatric Neurology, 19(03), 189-192. IOS Press
Journal of Pediatric Neurology, 19(3):2000024, 189-192. Thieme Medical Publishers Inc.
Stunnenberg, B, Ponson-Wever, M, Verberne, E, Peters, I, Gerrits, M, Haaxma, C & Van Haelst, M 2021, ' Novel SCN9A Mutations in a Compound Heterozygous Girl with Congenital Insensitivity to Pain ', Journal of Pediatric Neurology, vol. 19, no. 3, 2000024, pp. 189-192 . https://doi.org/10.1055/s-0040-1714067
Journal of Pediatric Neurology, 19, 189-192مصطلحات موضوعية: DISORDER, SCN9A, business.industry, Sodium channel, Anosmia, VARIANTS, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Compound heterozygosity, medicine.disease, Frameshift mutation, Exon, All institutes and research themes of the Radboud University Medical Center, Pediatrics, Perinatology and Child Health, medicine, Noxious stimulus, Cancer research, Neurology (clinical), SCN9A Gene, medicine.symptom, business, congenital insensitivity to pain, anosmia, Congenital insensitivity to pain
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad80aabc5eb3d0811b83b79a5e4a54a4
https://doi.org/10.1055/s-0040-1714067 -
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المؤلفون: Isis B.T. Joosten, Debby M.E.I. Hellebrekers, Catharina G. Faber, Monique M. Gerrits, Christine E. M. de Die-Smulders, Bianca T. A. de Greef, Hubert J.M. Smeets
المساهمون: Klinische Neurowetenschappen, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: DA KG Lab Centraal Lab (9), RS: MHeNs - R3 - Neuroscience, MUMC+: KIO Kemta (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, RS: FHML MaCSBio, Klinische Genetica, MUMC+: DA KG Polikliniek (9), MUMC+: MA Med Staf Spec Neurologie (9)
المصدر: Eur J Hum Genet
European Journal of Human Genetics, 28(7), 956-962. Nature Publishing Groupمصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Offspring, Genetic counseling, Biology, HUNTINGTON-DISEASE, CTG REPEAT, Asymptomatic, Myotonic dystrophy, Article, 03 medical and health sciences, CAG REPEAT, PATERNAL TRANSMISSION, Genetics, medicine, Humans, Myotonic Dystrophy, HETEROGENEITY, Allele, ANTICIPATION, Child, Genetics (clinical), 0303 health sciences, ORIGIN, 030305 genetics & heredity, Chromosome, EXPANSION, medicine.disease, SIZE, PRACTICE GUIDELINES, Cohort, Paternal Inheritance, Female, medicine.symptom, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Chromosomes, Human, Pair 19
وصف الملف: application/pdf
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المؤلفون: Giuseppe Lauria, Stephen G. Waxman, Catharina G. Faber, Dimos Kapetis, Yang Yang, Monique M. Gerrits, Jordi Heijman, Patrick J. Lindsey, M.N. Xenakis, Ronald L. Westra, Hubert J.M. Smeets
المساهمون: Klinische Genetica, RS: MHeNs - R3 - Neuroscience, Genetica & Celbiologie, MUMC+: DA KG Lab Centraal Lab (9), Cardiologie, RS: Carim - H01 Clinical atrial fibrillation, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Dept. of Advanced Computing Sciences, RS: FSE MaCSBio, RS: FSE DACS, RS: FSE DACS Mathematics Centre Maastricht, Toxicogenomics, RS: GROW - R4 - Reproductive and Perinatal Medicine, RS: FHML MaCSBio
المصدر: BMC Bioinformatics
BMC Bioinformatics, Vol 22, Iss 1, Pp 1-24 (2021)
BMC Bioinformatics, 22(1):212. BioMed Central Ltdمصطلحات موضوعية: QH301-705.5, In silico, Computer applications to medicine. Medical informatics, R858-859.7, Pain, Computational biology, Biochemistry, SCN9A MUTATIONS, Scaling, 03 medical and health sciences, Broad spectrum, 0302 clinical medicine, Structural Biology, DISORDER MUTATIONS, Missense mutation, Humans, Atomic hydropathicity, Biology (General), Molecular Biology, NEURONS, 030304 developmental biology, 0303 health sciences, Spatial complexity, Chemistry, Applied Mathematics, SELF-ORGANIZED CRITICALITY, ERYTHROMELALGIA, Computational modeling, SODIUM-CHANNEL NA(V)1.7, ELECTROPHYSIOLOGICAL PROPERTIES, Phenotype, Cumulative hydropathic topology, Computer Science Applications, FAMILY, NaV1.7, OF-FUNCTION MUTATION, NAV1, Mutation (genetic algorithm), Missense mutations, Mutation, Selectivity filter, INACTIVATION, Pathogenicity prediction, 030217 neurology & neurosurgery, Research Article
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المؤلفون: Milena Ślęczkowska, Rowida Almomani, Margherita Marchi, Bianca T. A. de Greef, Maurice Sopacua, Janneke G. J. Hoeijmakers, Patrick Lindsey, Erika Salvi, Gidon J. Bönhof, Dan Ziegler, Rayaz A. Malik, Stephen G. Waxman, Giuseppe Lauria, Catharina G. Faber, Hubert J. M. Smeets, Monique M. Gerrits
المساهمون: RS: MHeNs - R3 - Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Toxicogenomics, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Specialisten (9)
المصدر: International Journal of Molecular Sciences; Volume 23; Issue 13; Pages: 7190
International journal of molecular sciences, 23(13):7190. Multidisciplinary Digital Publishing Institute (MDPI)مصطلحات موضوعية: EXPRESSION, Potassium Channels, Anoctamins, TRPV Cation Channels, VARIANTS, Catalysis, Inorganic Chemistry, Transient Receptor Potential Channels, Diabetic Neuropathies, Diabetes Mellitus, Humans, Physical and Theoretical Chemistry, MUTATION, Molecular Biology, Spectroscopy, neuropathic pain, RECEPTOR, TRP channels, ANOCTAMIN 1, Organic Chemistry, MIPs-NGS, ion channel, diabetic neuropathy, General Medicine, PREVALENCE, Computer Science Applications, MIGRAINE, TRPV4, BLOCK, SENSORY NEURONS, Neuralgia
وصف الملف: application/pdf