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1
المؤلفون: Florian P. Thomas, Ivan Litvinenko, Albena Jordanova, Laurence J. Kinsella, Boryana Ishpekova, Ivailo Tournev, Yi Pan, Steven S. Scherer, Francisco de Assis Aquino Gondim, Peter De Jonghe, Chitharanjan V. Rao, Velina Guergueltcheva, Thomas J. Geller
المصدر: Journal of neurology
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Weakness, Neurology, Neural Conduction, Action Potentials, Sural nerve, Asymptomatic, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Charcot-Marie-Tooth Disease, medicine, Humans, Peripheral Nerves, Remyelination, Biology, Aged, Neuroradiology, Family Health, Neurologic Examination, Electromyography, business.industry, Age Factors, Middle Aged, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Female, Human medicine, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Sensory nerve
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المؤلفون: Amandine Boyer, P. K. Thomas, Beate Schlotter, Elizabeth Freitas, Ian Martins, Rafaëlle Bernard, Boryana Ishpekova, Albena Jordanova, Jaume Colomer, Luba Kalaydjieva, Garth A. Nicholson, Thomas Voit, Velina Guergelcheva, Ivailo Tournev, Hanns Lochmüller, Michael Hunter, Nicolas Lévy, Ivo Kremensky, Bharti Morar
المصدر: Human Mutation. 22:129-135
مصطلحات موضوعية: Genetics, Mutation, Sequence analysis, Single-nucleotide polymorphism, Biology, medicine.disease_cause, medicine.disease, Phenotype, Pathogenesis, Exon, medicine, Hereditary motor and sensory neuropathy, Gene, Genetics (clinical)
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3
المؤلفون: Ivailo Tournev, R. H. M. King, Stephen Milanov, Nevena Popova, Zdravko Kamenov, Radoslav Petkov, Ognian Kamenov, Maria Uzunova, Alexander Schmarov, Galina Dimitrova, Julia Petrova, Margarita Raicheva-Terzieva, Olia Radeva, Georgi Kolarov, Boryana Ishpekova, Velina Guergueltcheva, Kiril Romanski, Yanko Petkov, Lidia Aneva, Luba Kalaydjieva, P. K. Thomas, Maria Katzarova, Bryan Youl
المصدر: Annals of Neurology. 45:742-750
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Pathology, Nerve biopsy, medicine.diagnostic_test, Craniofacial abnormality, business.industry, Marinesco–Sjögren syndrome, Chorea, Neurological disorder, medicine.disease, Short stature, Peripheral neuropathy, Neurology, medicine, Congenital cataracts, Neurology (clinical), medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::04e659f8155c07bd8f2f70b53b3cb948
https://doi.org/10.1002/1531-8249(199906)45:6<742::aid-ana8>3.0.co;2-n -
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المؤلفون: R. H. M. King, Stella Stancheva, Iva Petkova, Lefkos T. Middleton, Luba Kalaydjieva, Amelia Nikolova, Ivo Turnev, J. R. Muddle, Anna Hristova, A. Trogu, Julia Petrova, Luciano Merlini, Alexander Shmarov, Boryana Ishpekova, P. K. Thomas
المصدر: Brain. 121:399-408
مصطلحات موضوعية: Adult, Male, Adolescent, Biopsy, Neural Conduction, Motor nerve, Sural nerve, Deafness, Nerve conduction velocity, Vestibulocochlear nerve, Myelin, Hearing, Sural Nerve, Humans, Medicine, Child, Nerve biopsy, medicine.diagnostic_test, business.industry, Sensory loss, Anatomy, Middle Aged, medicine.disease, Electrophysiology, Microscopy, Electron, medicine.anatomical_structure, Carrier State, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, business, Hereditary motor and sensory neuropathy, Demyelinating Diseases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b802ef0970f83cc59aee2f56f9181560
https://doi.org/10.1093/brain/121.3.399 -
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المؤلفون: P. K. Thomas, Veneta Georgieva, Julia Petrova, Alexey Savov, Rosalind H. H. King, Dora Angelicheva, Lefkos T. Middleton, Stella Stancheva, Luba Kalaydjieva, Amelia Nikolova, Iva Petkova, Ivailo Turnev, K. Honeyman, David Chandler, Boryana Ishpekova, Alan H. Bittles, Alexander Shmarov, Anna Hristova, Momchil Moskov, Joachim Hallmayer, Francesc Calafell
المصدر: Nature Genetics. 14:214-217
مصطلحات موضوعية: Male, Linkage disequilibrium, Roma, Adolescent, Genetic Linkage, Population, Disease, Biology, Nerve Fibers, Myelinated, Chromosome (genetic algorithm), Gene mapping, Genetics, Humans, Bulgaria, Child, education, education.field_of_study, Chromosome Mapping, Founder Effect, Pedigree, Evolutionary biology, Genetic marker, Endogamy, Female, Hereditary Sensory and Motor Neuropathy, Chromosomes, Human, Pair 8, Founder effect
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfe38239162f395bf45bc6d8f6b46b68
https://doi.org/10.1038/ng1096-214 -
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المؤلفون: Tinne Ooms, Stefano C. Previtali, Zoran Mitrović, Van Dijck P, Haluk Topaloglu, Silvia Lechner, Vedrana Milic Rasic, J. Nikodinovic, Wolfgang Löscher, Thomas Müller, Albena Jordanova, Michaela Auer-Grumbach, Yesim Parman, S. Todorovic, Leonardo Almeida-Souza, Van Damme P, Esra Battaloglu, Erik Fransen, Hahn Af, Dusanka Savic-Pavicevic, Nina Barišić, Jonathan Baets, Beleza-Meireles A, Andreas R. Janecke, Guergueltcheva, Günther Bernert, De Vriendt E, Stephan Züchner, Timmerman, De Rijk P, K. Peeters, Zeliha Matur, Boryana Ishpekova, Britt-Sabina Petersen, De Jonghe P, Ivailo Tournev, Magdalena Zimoń
المصدر: Nature genetics
مصطلحات موضوعية: Axonal neuropathy, Saccharomyces cerevisiae Proteins, Neuromyotonia, DNA Mutational Analysis, Mutation, Missense, Gene Expression, Genes, Recessive, Nerve Tissue Proteins, Saccharomyces cerevisiae, Biology, medicine.disease_cause, Myotonia, 03 medical and health sciences, Mice, 0302 clinical medicine, Genetic linkage, Genetics, medicine, Missense mutation, Animals, Humans, Abnormalities, Multiple, Amino Acid Sequence, Loss function, Conserved Sequence, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, Genetic Complementation Test, Syndrome, medicine.disease, 3. Good health, Human medicine, generated lysyl-adenylate, histidine, supports, mice, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery
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المؤلفون: Dušan Butinar, Luciano Merlini, Jon Andoni Urtizberea, Axinia Corches, Thomas Voit, David Gresham, Rebecca Gooding, Alexei Savov, P. K. Thomas, Martina Baethmann, Luba Kalaydjieva, Vania Nedkova, Jaume Colomer, Luchezar Karagyozov, Dora Angelicheva, Amelia Nikolova, Roos de Jonge, Brigitte Chabrol, Rosalind H.M. King, David Chandler, Karin Blechschmidt, Boryana Ishpekova, Danielle E. Dye, Peter Yanakiev, Ivailo Tournev, Bronya J.B. Keats, Lisa Heather, Frank Baas, Arnold Starr
المساهمون: Other departments
المصدر: Chandler, D; Angelicheva, D; Heather, L; Gooding, R; Gresham, D; Yanakiev, P; et al.(2000). Hereditary motor and sensory neuropathy-Lom (HMSNL): Refined genetic mapping in Romani (Gypsy) families from several European countries. Neuromuscular Disorders, 10(8), 584-591. doi: 10.1016/S0960-8966(00)00148-6. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/3dj3g474
Neuromuscular disorders, 10(8), 584-591. Elsevier Limitedمصطلحات موضوعية: Adult, Male, Roma, Adolescent, Genotype, DNA Mutational Analysis, Biology, Gene mapping, medicine, Humans, Child, Genetics (clinical), Genetics, Chromosome Mapping, Middle Aged, medicine.disease, Pedigree, Clinical neurology, Europe, Phenotype, Haplotypes, Neurology, Pediatrics, Perinatology and Child Health, Disease Progression, Demyelinating neuropathy, Microsatellite, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, Hereditary motor and sensory neuropathy
وصف الملف: application/pdf
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8دورية أكاديمية
المؤلفون: Michael Hunter, Rafaëlle Bernard, Elizabeth Freitas, Amandine Boyer, Bharti Morar, Ian J. Martins, Ivailo Tournev, Albena Jordanova, Velina Guergelcheva, Boryana Ishpekova, Ivo Kremensky, Garth Nicholson, Beate Schlotter, Hanns Lochmüller, Thomas Voit, Jaume Colomer, P.K. Thomas, Nicolas Levy, Luba Kalaydjieva
المصدر: Human Mutation; Aug2003, Vol. 22 Issue 2, p129-135, 7p
مصطلحات موضوعية: CHARCOT-Marie-Tooth disease, GENETIC mutation, NUCLEOTIDE sequence, GENETIC code, GENETIC polymorphisms, PHENOTYPES, ROMANIES
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9دورية أكاديمية
المؤلفون: Michael Hunter, Rafaëlle Bernard, Elizabeth Freitas, Amandine Boyer, Bharti Morar, Ian J. Martins, Ivailo Tournev, Albena Jordanova, Velina Guergelcheva, Boryana Ishpekova, Ivo Kremensky, Garth Nicholson, Beate Schlotter, Hanns Lochmüller, Thomas Voit, Jaume Colomer, P.K. Thomas, Nicolas Levy, Luba Kalaydjieva
المصدر: Human Mutation; Aug2003, Vol. 22 Issue 2, p129-135, 7p