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

Relation: https://www.mdpi.com/1422-0067/23/22/14095; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/2de82955c0494f2b8af1fe0d6215c9f8

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/c1c1cc67202f46d9a15f002a4e227929

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/a140dd09be1741a88891ab27a803a8de

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4750945?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/2058bd1615b344d695af6e83cf4bc0f5

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=multidiscipl::5543bf55982dd6d8302a536e6aa0df39

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 Neurophysiol

مصطلحات 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

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, 189-192

مصطلحات 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

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 Group

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede2f1263d2e5fcb4ccb5ad0d522013b
https://doi.org/10.1038/s41431-020-0601-4

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 Ltd

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::855bae814a6f10bd223f46a478fa2b70
http://europepmc.org/articles/PMC8063372

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d351cce6e1a177c43bc02c14a42c57
https://doi.org/10.3390/ijms23137190