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المؤلفون: David R. Cornblath, Nina Huber, Vincent Timmerman, Alice B. Schindler, E. Jaakkola, Dagmara Kabzińska, J. Pilch, Michaela Auer-Grumbach, Albena Jordanova, Andrzej Kochański, P. De Jonghe, Christian Guelly, Magdalena Zimoń, Irena Hausmanowa-Petrusewicz, Ueli Suter, Gian Maria Fabrizi, Axel Niemann, Kenneth H. Fischbeck, E. De Vriendt, Jonathan Baets
المصدر: Neurology
مصطلحات موضوعية: DNA Mutational Analysis, Nerve Tissue Proteins, Paternity, Disease, Biology, medicine.disease_cause, Article, Cohort Studies, 03 medical and health sciences, Exon, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Chlorocebus aethiops, medicine, Animals, Humans, Allele, Ganglioside-induced differentiation associated-protein 1 (GDAP1) mutations, autosomal recessive Charcot-Marie-Tooth (ARCMT), neuropathy, autosomal dominant Charcot-Marie-Tooth (ADCMT), Genes, Dominant, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Reverse Transcriptase Polymerase Chain Reaction, Haplotype, Exons, Penetrance, Phenotype, Axons, Introns, Mitochondria, Pedigree, 3. Good health, Haplotypes, COS Cells, Mutation testing, Human medicine, Neurology (clinical), 030217 neurology & neurosurgery, HeLa Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7769223aaa3a27ea48f0c4a43a4869Test
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272385/?tool=pubmedTest -
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المؤلفون: M. Casarotto, Sergio Ferrari, Vincent Timmerman, P. De Jonghe, Laura Bertolasi, T Deconinck, Gian Maria Fabrizi, Nicolo' Rizzuto, Tiziana Cavallaro, Federica Taioli
المصدر: Neurology
مصطلحات موضوعية: Proband, Charcot-Marie-Tooth, Pathology, medicine.medical_specialty, Molecular Sequence Data, Neural Conduction, medicine.disease_cause, FGD4 gene, Young Adult, Degenerative disease, CMT4H, neuropathy, mutation, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth disease type 4H, Humans, Medicine, Amino Acid Sequence, Child, Mutation, Nerve biopsy, Base Sequence, medicine.diagnostic_test, Genetic heterogeneity, business.industry, Microfilament Proteins, Peroneal muscular atrophy, Myelin outfoldings, medicine.disease, Pedigree, Female, Human medicine, Neurology (clinical), business, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb6d3f014126726f247b8e06dafbec75Test
https://doi.org/10.1212/01.wnl.0000345373.58618.b6Test -
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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 -
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المؤلفون: C. Van Broeckhoven, J. Meuleman, J. J. Martin, A. Pou-Serradell, Chantal Ceuterick, P. De Jonghe, Vincent Timmerman, Ann Löfgren
المصدر: Neuromuscular disorders
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, DNA, Recombinant, medicine.disease_cause, Exon, Sural Nerve, Peripheral myelin protein 22, Pressure, Humans, Paralysis, Medicine, Child, Gene, Genetics (clinical), Genetics, Mutation, Splice site mutation, Base Sequence, business.industry, Point mutation, medicine.disease, Phenotype, Pedigree, Electrophysiology, Peripheral neuropathy, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, business, Myelin Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01d7dc1c59ba11b5947a94015bdc0dc0Test
https://doi.org/10.1016/s0960-8966Test(00)00214-5 -
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المصدر: Neuromuscular Disorders, 11, 8, pp. 753--6
Neuromuscular Disorders, 11, 753--6
Neuromuscular disordersمصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Biopsy, Axonal loss, Neural Conduction, Sural nerve, Cell Count, Biology, medicine.disease_cause, Myelin, Sural Nerve, Charcot-Marie-Tooth Disease, medicine, Humans, Axon, Genetics (clinical), Myelin Sheath, Mutation, medicine.diagnostic_test, Myelin-associated glycoprotein, Neuromusculaire en neurometabole aandoeningen, Anatomy, Middle Aged, Immunohistochemistry, Axons, Myelin-Associated Glycoprotein, medicine.anatomical_structure, Neurology, Amino Acid Substitution, Neuromuscular and neurometabolic disorders, nervous system, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Myelin P0 Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e942e736d7e72cf978e8992c3c6a97abTest
https://doi.org/10.1016/s0960-8966Test(01)00229-2 -
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المؤلفون: Michael A. Gonzalez, Tania Djémié, Johannes R. Lemke, Laura Hernandez-Hernandez, Sarah Weckhuysen, Steffen Syrbe, Arvid Suls, Rikke S. Møller, Jose Serratosa, Ulrike B. S. Hedrich, Sanjay M. Sisodiya, Matthis Synofzik, Snezana Maljevic, R. Schuele-Freyer, Ingo Helbig, Erik Riesch, Stephan Züchner, Aarno Palotie, Bridget H. Maher, Saskia Biskup, P. De Jonghe, Hande Caglayan, Stephan Müller, Holger Lerche, Markus Wolff, Mutluay Arslan
المصدر: Clinical Neurophysiology. 126:e80
مصطلحات موضوعية: Membrane potential, 0303 health sciences, Candidate gene, Mutation, Ataxia, Biology, medicine.disease_cause, Phenotype, Sensory Systems, Potassium channel, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Neurology, Physiology (medical), Epilepsy syndromes, medicine, Neurology (clinical), Neuron, medicine.symptom, Neuroscience, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::34c93699640319cbc3d74163a01b5e9aTest
https://doi.org/10.1016/j.clinph.2015.04.106Test -
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المؤلفون: Mariana Gospodinova, Vanyo Mitev, C. Tzekov, P. De Jonghe, Teodora Chamova, Stoyan Bichev, Hanns Lochmüller, Chantal Ceuterick-de Groote, K. Storm, E. Reyniers, Vincent Timmerman, Elke Ydens, G. Hadjidekov, V. Mihaylova, Leonardo Almeida-Souza, Albena Jordanova, E. De Vriendt, A Suls, Jonathan Baets, I. Tournev, P.F.M. van der Ven, J. J. Martin, K. Peeters, Velina Guergueltcheva, Dieter O. Fürst
المصدر: Neurology
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Genotype, Genetic Linkage, Filamins, Nonsense mutation, DNA Mutational Analysis, Genome-wide association study, Haploinsufficiency, Biology, Filamin, medicine.disease_cause, Frameshift mutation, Contractile Proteins, medicine, Humans, FLNC, Myopathy, Bulgaria, Mutation, Microfilament Proteins, Middle Aged, Pedigree, Distal Myopathies, Female, Neurology (clinical), Human medicine, medicine.symptom, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cc09a5eab8334dc040c48894e873e02Test
https://hdl.handle.net/10067/927420151162165141Test -
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المؤلفون: B Michielsens, Jurgen Del-Favero, P. De Jonghe, Karin Dahan, Albena Jordanova, Jonathan Baets, Dirk Goossens, T Deconinck, Wim Robberecht, Milic Rasic, Katrien Smets, Patrick Santens, P. Van den Bergh, L. De Meirleir, E. Schmedding, P. Van Damme
المساهمون: Pediatrics, Internal Medicine Specializations, Neuroprotection & Neuromodulation
المصدر: Neurology
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Late onset, Autosomal recessive spastic ataxia of Charlevoix-S, Biology, medicine.disease_cause, Young Adult, Exon, ARSACS, medicine, Humans, Copy-number variation, Child, Heat-Shock Proteins, SACs, Genetics, Mutation, Cerebellar ataxia, Spastic Paraplegia, Hereditary, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Phenotype, Peripheral neuropathy, Microsatellite, Female, Human medicine, Neurology (clinical), medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22eecc2b957d560aae0b8eaaa5983e60Test
https://biblio.vub.ac.be/vubir/mutations-in-sacs-cause-atypical-and-lateonset-forms-of-arsacsTest(0272eb48-c1bf-4382-aa1c-51a3e8a24fe8).html -
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المؤلفون: M. Keckarevic Markovic, V. Brankovic, J. Baets, V. Milic Rasic, Jelena Mladenović, S. Todorovic, J. Nikodinovic, A. Jordanova, A. Kosac, D. Pavicevic Savic, M. Zimon, P. De Jonghe
المصدر: European Journal of Paediatric Neurology. 19:S67
مصطلحات موضوعية: Mutation, medicine.medical_specialty, Pathology, Neuromyotonia, business.industry, General Medicine, medicine.disease, medicine.disease_cause, Myotonia, Phenotype, 3. Good health, Molecular genetics, Pediatrics, Perinatology and Child Health, Genotype, Standard protocol, Medicine, Neurology (clinical), business, Founder mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ce55c0ea5f89d9413101d467a4b5698aTest
https://doi.org/10.1016/s1090-3798Test(15)30221-x -
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المؤلفون: Ann Löfgren, Vanyo Mitev, Tine Deconinck, N Ivanova, R Rousev, Albena Jordanova, Vincent Timmerman, I. Tournev, A Andreeva, P. De Jonghe, V Georgieva, Ivo Kremensky
المصدر: Clinical genetics
مصطلحات موضوعية: Spastin, Hereditary spastic paraplegia, DNA Mutational Analysis, Biology, Gene mutation, medicine.disease_cause, Genotype, Genetics, medicine, Ethnicity, Missense mutation, Humans, Genetic Testing, Age of Onset, Bulgaria, Genetics (clinical), Genetic testing, Genes, Dominant, Adenosine Triphosphatases, Mutation, medicine.diagnostic_test, Spastic Paraplegia, Hereditary, medicine.disease, Pedigree, Age of onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d5b58dcde075e9b9199a3ba416e999fTest
https://pubmed.ncbi.nlm.nih.gov/17100993Test