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

المؤلفون: Reinhard Büttner, Roman Chrast, Kathrin Huehne, Volker Straub, Claudia Stendel, Nathalie Verpoorten, Carsten Bergmann, Vincent Timmerman, Haluk Topaloglu, Sevim Erdem, Gian Maria Fabrizi, Eva Nelis, Yesim Parman, Ersin Tan, J. Michael Schröder, Nicolo' Rizzuto, Jörg Klepper, Greg Lemke, Manfred Stuhrmann, Wolfgang Müller-Felber, Jutta Kirfel, Stephan Züchner, Sabine Rudnik-Schöneborn, Andreas Hahn, Mark H.G. Verheijen, Jan Senderek, Esra Battaloglu, Peter De Jonghe, Bernd Rautenstrauss, Klaus Zerres, Eckhard Buchheim

المساهمون: Çocuk Sağlığı ve Hastalıkları

المصدر: The American journal of human genetics

مصطلحات موضوعية: Adult, Male, Adolescent, Protein family, Molecular Sequence Data, Medizin, Genes, Recessive, Locus (genetics), Biology, Compound heterozygosity, src Homology Domains, Consanguinity, Autosomal recessive trait, Charcot-Marie-Tooth Disease, SH3TC2, Genetics, medicine, Animals, Humans, Genetics(clinical), Amino Acid Sequence, RNA, Messenger, Allele, Child, Genetics (clinical), Genetics & Heredity, Base Sequence, Genome, Human, Gene Expression Profiling, Intracellular Signaling Peptides and Proteins, Infant, Proteins, Articles, Middle Aged, Disease gene identification, medicine.disease, Pedigree, Alternative Splicing, Phenotype, Haplotypes, Child, Preschool, Mutation, Chromosomes, Human, Pair 5, Female, Hereditary motor and sensory neuropathy

وصف الملف: pdf; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91c63732a349714f14456870f7804476Test
https://doi.org/10.1086/379525Test

المؤلفون: Christine Van Broeckhoven, Sevim Erdem, Ersin Tan, Ann Löfgren, Haluk Topaloglu, Vincent Timmerman, Eva Nelis, Peter De Jonghe, Chantal Ceuterick

المصدر: Neuromuscular disorders

مصطلحات موضوعية: Male, Adolescent, Turkey, Myotubularin, Mutation, Missense, Genes, Recessive, Biology, Polymerase Chain Reaction, chemistry.chemical_compound, Exon, Charcot-Marie-Tooth Disease, Humans, Coding region, Missense mutation, Child, Gene, Chromatography, High Pressure Liquid, Myelin Sheath, Genetics (clinical), Genetics, Polymorphism, Genetic, Base Sequence, Chromosomes, Human, Pair 11, Point mutation, Homozygote, Chromosome Mapping, Chromosome, Exons, Sequence Analysis, DNA, Protein Tyrosine Phosphatases, Non-Receptor, Molecular biology, Pedigree, Neurology, chemistry, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Protein Tyrosine Phosphatases, Cytosine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::728c21042f12d377d12c1736dc96e78bTest
https://doi.org/10.1016/s0960-8966Test(02)00046-9

المؤلفون: C. Van Broeckhoven, P. De Jonghe, J.J. Martin, E. De Vriendt, Pragna Patel, Eva Nelis

المصدر: Journal of medical genetics

مصطلحات موضوعية: Male, DNA Mutational Analysis, Molecular Sequence Data, Biology, Polymerase Chain Reaction, Myelin, Exon, Charcot-Marie-Tooth Disease, Peripheral myelin protein 22, Gene duplication, Genetics, medicine, Humans, Coding region, Promoter Regions, Genetic, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), DNA Primers, Base Sequence, Exons, medicine.disease, Pedigree, medicine.anatomical_structure, Peripheral neuropathy, Mutation, Mutation testing, Female, Hereditary Sensory and Motor Neuropathy, Myelin Proteins, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce772a69af9c03cae30a36a76b8fcefTest
https://doi.org/10.1136/jmg.35.7.590Test

المؤلفون: Davide Pareyson, Vidmer Scaioli, Nathalie Verpoorten, Thomas R. Pieber, Nathalie Goemans, Kristl Claeys, Michaela Auer-Grumbach, Katrien Coen, Gunnar M. Buyse, Eva Nelis, P. De Jonghe, W. Salmhofer, Vincent Timmerman, Matilde Laura

المصدر: Neurology

مصطلحات موضوعية: Adult, Male, Genotype, Nerve Tissue Proteins, Protein Serine-Threonine Kinases, Biology, medicine.disease_cause, Compound heterozygosity, Minor Histocompatibility Antigens, Exon, WNK Lysine-Deficient Protein Kinase 1, Hereditary sensory and autonomic neuropathy, medicine, HSN2, Humans, Hereditary Sensory and Autonomic Neuropathies, Gene, Sequence Deletion, Genetics, Mutation, Chromosomes, Human, Pair 12, Base Sequence, Genetic Carrier Screening, Intracellular Signaling Peptides and Proteins, Chromosome Mapping, Exons, Middle Aged, medicine.disease, Phenotype, Introns, Pedigree, Female, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b94b6b17c4c81b75102bd3402ec67a87Test
https://hdl.handle.net/10067/567770151162165141Test

المؤلفون: Peter De Jonghe, Dirk Goossens, Jurgen Del-Favero, Thomas D. Bird, José M Prats, Nathalie Verpoorten, Florian Stögbauer, J. Meuleman, Eila M. Airaksinen, Tarja Mononen, Anja Schirmacher, Mark C. Hannibal, E. Bernd Ringelstein, Benjamin G Betz, Vincent Timmerman, Phillip F. Chance, Gregor Kuhlenbäumer, Gert Kurlemann, Adolfo Pou Serradell, Hyun Hor, Eva Nelis, Peter Young, Els De Vriendt, Giles D. J. Watts, Hartmut Halfter, Christine Van Broeckhoven, Joy Irobi

المصدر: Nature genetics

مصطلحات موضوعية: Cell division, Molecular Sequence Data, macromolecular substances, Hereditary neuralgic amyotrophy, Biology, medicine.disease_cause, Septin, GTP Phosphohydrolases, Mice, Dogs, Genetics, medicine, Animals, Brachial Plexus Neuritis, Humans, Amino Acid Sequence, Gene, Mutation, Base Sequence, fungi, Chromosome, Amyotrophy, medicine.disease, Rats, biological phenomena, cell phenomena, and immunity, Carcinogenesis, Septins, Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cf74f234d54040cc8162ad74a310aa0Test
https://pubmed.ncbi.nlm.nih.gov/16186812Test

المؤلفون: Yesim, Parman, Esra, Battaloglu, Ibrahim, Baris, Birdal, Bilir, Mürüvvet, Poyraz, Nisrine, Bissar-Tadmouri, Anna, Williams, Nadia, Ammar, Eva, Nelis, Vincent, Timmerman, Peter, De Jonghe, Ayaz, Najafov, Ayaz, Necefov, Feza, Deymeer, Piraye, Serdaroglu, Peter J, Brophy, G, Said

المصدر: Brain

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Biopsy, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Consanguinity, medicine.disease_cause, Sural Nerve, Charcot-Marie-Tooth Disease, medicine, Humans, Charcot-Marie-Tooth disease type 4, Age of Onset, Child, Mutation, Nerve biopsy, medicine.diagnostic_test, Base Sequence, Genetic heterogeneity, business.industry, Membrane Proteins, Heterozygote advantage, Middle Aged, Protein Tyrosine Phosphatases, Non-Receptor, Pedigree, Child, Preschool, Histopathology, Female, Neurology (clinical), Age of onset, Protein Tyrosine Phosphatases, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4071e939b1d043848410bb9f95496aeaTest
https://pubmed.ncbi.nlm.nih.gov/15469949Test

المؤلفون: Chantal Ceuterick, Els De Vriendt, Kristien Verhoeven, An Jacobs, Danny Huylebroeck, Peter De Jonghe, Veerle Van Gerwen, Tom Van de Putte, Vincent Timmerman, Eva Nelis, Annick Francis, An Zwijsen, Nathalie Verpoorten

المصدر: The American journal of human genetics

مصطلحات موضوعية: Genetic Markers, Male, GTP', Transcription, Genetic, Mutant, Molecular Sequence Data, Morphogenesis, Neural Conduction, Locus (genetics), GTPase, Biology, Mice, Report, medicine, Genetics, Animals, Guanine Nucleotide Exchange Factors, Humans, Nucleotide, Genetics(clinical), Peripheral Nerves, RNA, Messenger, Genetics (clinical), Myelin Sheath, chemistry.chemical_classification, Base Sequence, Research Support, Non-U.S. Gov't, Chromosome Mapping, Cell biology, Pedigree, medicine.anatomical_structure, chemistry, Peripheral nervous system, Mutation, Female, Guanine nucleotide exchange factor, Rho Guanine Nucleotide Exchange Factors, Chromosomes, Human, Pair 8

وصف الملف: pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5843bc075d83ed8f63aa84b156beeb9Test
https://hdl.handle.net/10067/427980151162165141Test

المؤلفون: Els De Vriendt, Christine Van Broeckhoven, Kristien Verhoeven, Eva Nelis, Vincent Timmerman, Joy Irobi, Peter De Jonghe, Ines Dierick

المصدر: Journal of the peripheral nervous system

مصطلحات موضوعية: Candidate gene, Chromosomes, Human, Pair 12, Base Sequence, Genetic Linkage, General Neuroscience, DNA Mutational Analysis, Molecular Sequence Data, Peripherin, Biology, Molecular biology, Splicing factor, Chemokine receptor, Mutation, Mutation testing, Homeobox, Humans, snRNP, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85b39ba4f62b5dafb57417a34469567cTest
https://pubmed.ncbi.nlm.nih.gov/12090300Test

المؤلفون: Vincent Timmerman, C. Van Broeckhoven, James R. Lupski, P. De Jonghe, Chantal Ceuterick, Ann Löfgren, Laura E. Warner, J. J. Martin, Eva Nelis, E. De Vriendt

المصدر: Neurology

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Time Factors, Early Growth Response Protein 2, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Nerve conduction velocity, Autosomal recessive trait, Myelin, Sural Nerve, Peripheral myelin protein 22, medicine, Missense mutation, Humans, Amino Acid Sequence, education, DNA Primers, education.field_of_study, Base Sequence, business.industry, medicine.disease, DNA-Binding Proteins, Microscopy, Electron, Peripheral neuropathy, medicine.anatomical_structure, Phenotype, nervous system, Neurology (clinical), business, Hereditary Sensory and Motor Neuropathy, Neuroscience, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a2462d92f22222e1d0d2c2cae16411aTest
https://pubmed.ncbi.nlm.nih.gov/10371530Test