المؤلفون: Shoij Tsuji, Yesim Parman, Maria Muglia, Aldo Quattrone, Peter De Jonghe, Alexander V. Polyakov, Margaret A. Pericak-Vance, Mario Zappia, J. Michael Schröder, Esra Battologlu, Eva Nelis, Alessandra Patitucci, Elena L. Dadali, Jeffery M. Vance, Nisrine Bissar-Tadmouri, Irina V. Mersiyanova, Oleg V. Evgrafov, Yuji Takahashi, Julie M. Rochelle, Stephan Züchner, Vincent Timmerman, Jan Senderek

المصدر: Nature genetics
36 (2004): 449–451. doi:10.1038/ng1341
info:cnr-pdr/source/autori:Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröd/titolo:Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A/doi:10.1038%2Fng1341/rivista:Nature genetics (Print)/anno:2004/pagina_da:449/pagina_a:451/intervallo_pagine:449–451/volume:36

مصطلحات موضوعية: Adult, Male, Adolescent, MFN2, Mutation, Missense, Kinesins, Nerve Tissue Proteins, Biology, medicine.disease_cause, GTP Phosphohydrolases, Mitochondrial Proteins, Mitofusin-2, Charcot-Marie-Tooth Disease, Genetics, medicine, MFN1, Missense mutation, Humans, Child, Mutation, Membrane Proteins, Exons, Middle Aged, medicine.disease, Introns, Mitochondria, Pedigree, mitochondrial fusion, Chromosomes, Human, Pair 1, Child, Preschool, Optic Atrophy 1, Female, Mitochondrial optic neuropathies, Lod Score

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::581bb48b8476b6ea6bbc21390e135ae5Test
https://hdl.handle.net/10067/469230151162165141Test

المؤلفون: Nadia Ammar, Rim Amouri, Nina Barišić, Jean Jacques Martin, Chantal Ceuterick, Fayçal Hentati, Eva Nelis, Peter De Jonghe, Vincent Timmerman, Luciano Merlini

المصدر: Neuromuscular disorders

مصطلحات موضوعية: Male, GDAP1, Charcot-Marie-Tooth disease, DNA Mutational Analysis, Glycine, Neural Conduction, Nerve Tissue Proteins, Gene mutation, Biology, medicine.disease_cause, Arginine, Nerve conduction velocity, Charcot-Marie-Tooth Disease, medicine, Humans, Genetic Predisposition to Disease, Histidine, Cysteine, Peripheral Nerves, Allele, Ulnar nerve, Gene, Genetics (clinical), Alleles, Genetics, Family Health, Mutation, Point mutation, Tryptophan, Sequence Analysis, DNA, Pedigree, Electrophysiology, Microscopy, Electron, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Vocal cord paresis, Demyelinating Diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad4c633429e0db3f0dc3f4c474b3c622Test
https://pubmed.ncbi.nlm.nih.gov/14561495Test

المؤلفون: A. Ammendola, Giacomo Lus, Albena Jordanova, Roberto Cotrufo, Tiziana Cavallaro, Nicolo' Rizzuto, Mariarosa A. B. Melone, Eva Nelis, P. De Jonghe, Ann Löfgren, Vincent Timmerman

المساهمون: Lus, Giacomo, Nelis, E, Jordanova, A, Lofgren, A, Cavallaro, T, Ammendola, A, Melone, Mariarosa Anna Beatrice, Rizzuto, N, Timmerman, V, Cotrufo, R, DE JONGHE, P.

المصدر: Neurology
Scopus-Elsevier

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Biopsy, NEFM, DNA Mutational Analysis, Sural nerve, medicine.disease_cause, Genetic determinism, Degenerative disease, Sural Nerve, Charcot-Marie-Tooth Disease, Gene duplication, medicine, Humans, Peripheral Nerves, Child, Aged, Genes, Dominant, Mutation, medicine.diagnostic_test, business.industry, Electrodiagnosis, Giant axon, Anatomy, Middle Aged, medicine.disease, Axons, nervous system diseases, Pedigree, Italy, Female, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5257dfa8ce68f6f324252c3e74af9533Test
https://pubmed.ncbi.nlm.nih.gov/14557576Test

المؤلفون: Sabine Rudnik-Schöneborn, Eva Nelis, Günther Bernert, Jan Senderek, J. Michael Schröder, Klaus Zerres, Peter De Jonghe, Astrid Makowski, Stephan Züchner, Vincent Ramaekers, Carsten Bergmann

المصدر: Brain

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Turkey, Schwann cell, Genes, Recessive, Nerve Tissue Proteins, Biology, medicine.disease_cause, Exon, Degenerative disease, Charcot-Marie-Tooth Disease, Germany, medicine, Humans, Allele, Child, Gene, Mutation, Homozygote, Anatomy, medicine.disease, Pathophysiology, Axons, Pedigree, medicine.anatomical_structure, Child, Preschool, Nerve Degeneration, Female, Neurology (clinical), Hereditary motor and sensory neuropathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53f91252ecb6f157a27ef08dc98d02eaTest
https://pubmed.ncbi.nlm.nih.gov/12566285Test

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: Irina Mersivanova, Peter De Jonghe, Jurgen Del Favero, Oleg V. Evgrafov, Jean-Jacques Martin, Eva Nelis, Christine Van Broeckhoven, Vincent Timmerman

المصدر: Annals of neurology

مصطلحات موضوعية: Genetics, Time Factors, Adolescent, Nonsense mutation, Chromosome, Gene mutation, Biology, medicine.disease, Pedigree, Degenerative disease, Neurology, Polymorphism (computer science), Charcot-Marie-Tooth Disease, Neurofilament Proteins, Mutation (genetic algorithm), Mutation, medicine, Missense mutation, Chain gene, Humans, Female, Neurology (clinical), Chromatography, High Pressure Liquid

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b11f1237f0c7d3a9f73d11293d87e39Test
https://pubmed.ncbi.nlm.nih.gov/11220745Test

المؤلفون: P. De Jonghe, Eva Nelis, Vincent Timmerman

المصدر: Neuromuscular diseases: from basic mechanisms to clinical management / Deymeer, F. [edit.]

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Medicine, business, Peripheral

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03f1dd01b0f648c8c09c8d2205ecc6e0Test
https://hdl.handle.net/10067/281430151162165141Test

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

المؤلفون: P. De Jonghe, Ann Löfgren, Christine Verellen, L. Van Maldergem, Vincent Timmerman, E. De Vriendt, Eva Nelis, J. J. Martin, C. Van Broeckhoven, A Vercruyssen, Chantal Ceuterick

المصدر: Brain

مصطلحات موضوعية: Male, Threonine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Biopsy, Nonsense mutation, DNA Mutational Analysis, Sural nerve, Biology, Myelin, Methionine, Sural Nerve, Charcot-Marie-Tooth Disease, medicine, Missense mutation, Humans, Point Mutation, Neurons, Afferent, Gene, Polymorphism, Single-Stranded Conformational, Ulnar Nerve, Aged, Family Health, Motor Neurons, Electromyography, Myelin protein zero, Anatomy, Phenotype, Median Nerve, Pedigree, medicine.anatomical_structure, Haplotypes, Mutation (genetic algorithm), Female, Neurology (clinical), Myelin P0 Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a181f37db8c034948b4c9cee6b8f1e1fTest
https://pubmed.ncbi.nlm.nih.gov/10071056Test