-
1
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 -
2
المؤلفون: José Berciano, Jefferey M Vance, Marina L. Kennerson, Zwi N. Berneman, Antonio G. García, Peter De Jonghe, Kristl Claeys, Garth A. Nicholson, H.M.E. Bienfait, Eva Nelis, Martin Lammens, Ilse De Veuster, Elsdon Storey, Els De Vriendt, Stephan Züchner, John Merory, Kristien Verhoeven, Jonathan Baets, Vincent Timmerman
المساهمون: Other departments
المصدر: Brain, 132, Pt 7, pp. 1741-52
Brain, 132, 1741-52
Brain
Brain, 132(Part 7), 1741-1752. Oxford University Pressمصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Biopsy, Neural Conduction, Sural nerve, medicine.disease_cause, Dynamin II, Cataract, Cohort Studies, Young Adult, Myelin, Degenerative disease, Sural Nerve, Charcot-Marie-Tooth Disease, medicine, Perception and Action [DCN 1], Humans, Aged, Dynamin, Mutation, medicine.diagnostic_test, business.industry, Original Articles, Anatomy, Middle Aged, medicine.disease, Blood Cell Count, Median Nerve, Pedigree, DNM2, Phenotype, medicine.anatomical_structure, Female, Human medicine, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05a99a97b633f60c5286746ad554cc0aTest
https://doi.org/10.1093/brain/awp115Test -
3
المؤلفون: M. Bojar, E. Vyhnálková, Luciano Merlini, P. De Jonghe, Eva Nelis, L. Baránková, Radim Mazanec, Iva Sakmaryová, Petr Vondráček, Pavel Seeman, Stephan Züchner
المصدر: Neuromuscular disorders
مصطلحات موضوعية: Adult, Male, Adolescent, media_common.quotation_subject, Nonsense, Population, Mutation, Missense, Nerve Tissue Proteins, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Charcot-Marie-Tooth Disease, medicine, Humans, Point Mutation, Missense mutation, Age of Onset, Allele, Child, education, Allele frequency, Alleles, Genetics (clinical), Aged, Czech Republic, 030304 developmental biology, media_common, Genetics, 0303 health sciences, Mutation, education.field_of_study, Muscle Weakness, Haplotype, Middle Aged, 3. Good health, Electrophysiology, Haplotypes, Neurology, Codon, Nonsense, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Age of onset, Algorithms, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e493c694b7bd8fcf8946cb825e00aa7Test
https://doi.org/10.1016/j.nmd.2007.02.010Test -
4
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 -
5
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 -
6
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 -
7
المؤلفون: Lawrence T. Reiter, Eva Nelis, Christine Van Broeckhoven, P. J. Hastings, Peter De Jonghe, James R. Lupski
المصدر: The American journal of human genetics
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, mariner-like element, Biology, Polymerase Chain Reaction, law.invention, Meiosis, Gene mapping, Hotspot, law, Charcot-Marie-Tooth Disease, Gene duplication, Genetics, Humans, Genetics(clinical), Gene conversion, Homologous recombination, Repeated sequence, Gene, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Recombination, Genetic, Minimum efficient processing segments, Peripheral Nervous System Diseases, HNPP deletion, Recombinant DNA, CMT1A-REPs, Gene Deletion, Chromosomes, Human, Pair 17, Research Article
وصف الملف: pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::169d048992da87d43b0020c1e97881c1Test
-
8
المؤلفون: H Backhovens, Eva Nelis, Sandra Simokovic, Ann Löfgren, Vincent Timmerman, Christine Van Broeckhoven, Jean-Jacques Martin, Peter De Jonghe
المصدر: Human mutation
مصطلحات موضوعية: Male, Genetics, education.field_of_study, Biology, Connexins, Pedigree, Charcot-Marie-Tooth Disease, Mutation, Mutation testing, Humans, Connexin 32, Female, Identification (biology), education, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef52f4399e4c911cb7b98810b83ab7a5Test
https://doi.org/10.1002Test/(sici)1098-1004(1997)9:1<47::aid-humu8>3.0.co;2-m -
9
المؤلفون: Laura E. Warner, Calvin Wheeler, Max J. Hilz, Christine Van Broeckhoven, Stirling Carpenter, Eva Nelis, David R. Witt, Edwin H. Kolodny, Adria Bodell, James R. Lupski, James M. Killian, Stanley H. Appel, Gordon V. Watters, George Karpati
المصدر: Neuron
مصطلحات موضوعية: Adult, Male, Genotype, Protein Conformation, Neuroscience(all), DNA Mutational Analysis, Disease, medicine.disease_cause, Cohort Studies, 03 medical and health sciences, Myelin, 0302 clinical medicine, Sural Nerve, Charcot-Marie-Tooth Disease, medicine, Humans, Point Mutation, Cloning, Molecular, Loss function, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Crystallography, business.industry, General Neuroscience, Myelin protein zero, Structural protein, medicine.disease, Phenotype, Dejerine–Sottas disease, Microscopy, Electron, medicine.anatomical_structure, Female, Hereditary Sensory and Motor Neuropathy, business, Myelin P0 Protein, 030217 neurology & neurosurgery, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c9ec748d81376d9c7bc705dc26178e7Test
https://doi.org/10.1016/s0896-6273Test(00)80177-4 -
10
المؤلفون: Vincent Timmerman, Jean-Jacques Martin, Chantal Ceuterick, Eva Nelis, Ludo Muylle, Peter Raeymaekers, Peter De Jonghe, Christine Van Broeckhoven
المصدر: Journal of the neurological sciences
مصطلحات موضوعية: Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Charcot-Marie-Tooth Disease, Genetic linkage, Humans, Medicine, Genes, Dominant, Motor Neurons, Genetics, business.industry, Cytogenetics, Chromosome, Spinal muscular atrophies, medicine.disease, SMA, Autosomal dominant form, Pedigree, nervous system diseases, Neurology, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 5, Female, Neurology (clinical), Lod Score, Hereditary Sensory and Motor Neuropathy, business, Chromosomes, Human, Pair 19, Motor neuropathy, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6620ced9e3cea0a05beb6b56b4e2a99Test
https://doi.org/10.1016/0022-510xTest(92)90091-x