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1
المؤلفون: Małgorzata Stępień-Wojno, Dorota Rowczenio, Anna Kostera-Pruszczyk, Robert Petrovic, Joanna Brydak-Godowska, Jacek Grzybowski, Ján Chandoga, Marta Lipowska, Monika Gawor, Agnieszka Ptasińska-Perkowska, Hanna Drac, Philip N. Hawkins, Janusz Szewczuk, Maria Franaszczyk, Anetta Lasek-Bal, Renata Śmierciak, Janet A. Gilbertson
المصدر: Neurologia i neurochirurgia polska. 54(6)
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Pediatrics, Neurology, Late onset, Medicine, Humans, Prealbumin, Amyloid Neuropathies, Familial, biology, business.industry, Amyloidosis, nutritional and metabolic diseases, Middle Aged, medicine.disease, Phenotype, Middle age, Transthyretin, Mutation (genetic algorithm), Mutation, biology.protein, Surgery, Neurology (clinical), Poland, Presentation (obstetrics), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fde596b492d1b50f293666118a4eef0cTest
https://pubmed.ncbi.nlm.nih.gov/33373035Test -
2
المؤلفون: Dagmara Kabzińska, Hanna Drac, Anna Potulska-Chromik, Beata Zakrzewska-Pniewska, Andrzej Kochański, Anna Kostera-Pruszczyk, Elena Sinkiewicz-Darol, Marek Gołębiowski
المصدر: Folia Neuropathologica. 4:369-374
مصطلحات موضوعية: Proband, Pathology, medicine.medical_specialty, business.industry, Multiple sclerosis, Point mutation, Disease, medicine.disease, Phenotype, Pathology and Forensic Medicine, Medicine, Tumor necrosis factor alpha, Neurology (clinical), business, Gene, Sequence (medicine)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0162fc082ff83faf364b482a7cd3bc6aTest
https://doi.org/10.5114/fn.2012.32366Test -
3
المؤلفون: Dagmara Kabzińska, Hanna Drac, Andrzej Kochański, Irena Hausmanowa-Petrusewicz, Nina Huber, Ueli Suter, Axel Niemann, Anna Potulska-Chromik
المصدر: Neurogenetics
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Nonsense mutation, Mutation, Missense, Genes, Recessive, Nerve Tissue Proteins, Biology, medicine.disease_cause, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Chlorocebus aethiops, Genotype, Genetics, medicine, Animals, Humans, Missense mutation, Gene, Genetics (clinical), 030304 developmental biology, Chromosome Aberrations, 0303 health sciences, Mutation, Autosomal dominant trait, Phenotype, Human genetics, Pedigree, 3. Good health, nervous system diseases, Protein Transport, COS Cells, Mitochondrial Membranes, Female, 030217 neurology & neurosurgery, HeLa Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aacc269d88ad26be8477d2ae7c98c59dTest
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4
المؤلفون: Hanna Drac, Dagmara Kabzińska, Irena Hausmanowa-Petrusewicz, Halina Strugalska-Cynowska, Andrzej Kochański, Izabela Moszyńska
المصدر: Journal of Applied Genetics. 52:177-183
مصطلحات موضوعية: Adult, Male, Adolescent, Mutation, Missense, Neural Conduction, Sural nerve, Biology, Gene mutation, medicine.disease_cause, Young Adult, Sural Nerve, Charcot-Marie-Tooth Disease, Prevalence, Genetics, medicine, Humans, Missense mutation, Child, Gene, Genetic Association Studies, Myelin Sheath, Mutation, Myelin protein zero, Infant, General Medicine, Phenotype, Human genetics, Median Nerve, Pedigree, Hereditary Central Nervous System Demyelinating Diseases, Child, Preschool, Female, Poland, Myelin P0 Protein, Myelin Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a19d7055c27afccaa50aa898d35ee8bfTest
https://doi.org/10.1007/s13353-010-0003-3Test -
5
المؤلفون: Dagmara Kabzińska, Andrzej Kochański, Irena Hausmanowa-Petrusewicz, Teresa Korwin-Piotrowska, Hanna Drac, Hanna Drechsler
المصدر: American Journal of Medical Genetics Part A. :2196-2199
مصطلحات موضوعية: Male, Threonine, Proband, Foot drop, Pes cavus, Ataxia, Proline, Neurological examination, Central nervous system disease, Charcot-Marie-Tooth Disease, Genetics, medicine, Humans, Age of Onset, Hearing Disorders, Genetics (clinical), medicine.diagnostic_test, business.industry, Myelin protein zero, Steppage gait, Anatomy, Middle Aged, medicine.disease, Pedigree, Mutation, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43356ee43e52abfb812d5216ee7f28dfTest
https://doi.org/10.1002/ajmg.a.31908Test -
6
المؤلفون: Hanna Drac, Dagmara Kabzińska, Francesc Palau, Katarzyna Rowińska-Marcińska, Andrzej Kochański, Laia Pedrola, Barbara Ryniewicz, Irena Hausmanowa-Petrusewicz
المصدر: Journal of the Neurological Sciences. 241:7-11
مصطلحات موضوعية: Adult, Male, Threonine, Indoles, DNA Mutational Analysis, Green Fluorescent Proteins, Gene Expression, Nerve Tissue Proteins, Disease, Biology, Transfection, medicine.disease_cause, GDAP1 gene, Central nervous system disease, Methionine, Degenerative disease, Microscopy, Electron, Transmission, Sural Nerve, Charcot-Marie-Tooth Disease, Chlorocebus aethiops, medicine, Animals, Humans, Child, Gene, Family Health, Genetics, Mutation, Chromosome, medicine.disease, Pedigree, Neurology, Child, Preschool, COS Cells, Poland, Neurology (clinical), Neuroscience, Novel mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e75d16df899ec425e2615f0dedfd87Test
https://doi.org/10.1016/j.jns.2005.10.002Test -
7
المؤلفون: Katarzyna Rowińska-Marcińska, Barbara Ryniewicz, Andrzej Kochański, Dagmara Kabzińska, Irena Hausmanowa-Petrusewicz, Hanna Drac
المصدر: European Journal of Paediatric Neurology. 8:221-224
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Mutational Analysis, Gene mutation, Biology, medicine.disease_cause, Polymerase Chain Reaction, Frameshift mutation, Exon, Charcot-Marie-Tooth Disease, Leucine, medicine, Humans, Point Mutation, Child, Frameshift Mutation, Gene, Polymorphism, Single-Stranded Conformational, Genes, Dominant, Genetics, Mutation, Myelin protein zero, Point mutation, Exons, General Medicine, Phenotype, nervous system diseases, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Myelin P0 Protein, Myelin Proteins, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dac61a43fcaef2921f9f2596263771caTest
https://doi.org/10.1016/j.ejpn.2004.04.001Test -
8
المؤلفون: Janina Rafałowska, Anna Fidziańska, Hanna Drac
المصدر: Brain and Development. 24:727-731
مصطلحات موضوعية: Male, Basal lamina 'onion bulb' formation, Schwann cell, Apoptosis, Sural nerve, Biology, Polyneuropathies, Sural Nerve, Developmental Neuroscience, Biopsy, medicine, Humans, Child, Pathological, Myelin Sheath, medicine.diagnostic_test, General Medicine, Anatomy, medicine.disease, medicine.anatomical_structure, Peripheral neuropathy, nervous system, Pediatrics, Perinatology and Child Health, Basal lamina, Schwann Cells, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::621533788f496d44e6db0ffe326be3fbTest
https://doi.org/10.1016/s0387-7604Test(02)00081-5 -
9
المؤلفون: Irena Hausmanowa-Petrusewicz, Andrzej Kochański, Dagmara Kabzińska, Barbara Ryniewicz, Hanna Drac, Maria Jędrzejowska
المصدر: Neuromuscular Disorders. 18:339-341
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, SMN1, Spinal Muscular Atrophies of Childhood, Nerve conduction velocity, Tooth disease, Exon, Charcot-Marie-Tooth Disease, Gene duplication, medicine, Humans, Child, Foot deformity, Genetics (clinical), Family Health, business.industry, Exons, Spinal muscular atrophy, Anatomy, medicine.disease, SMA, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, Female, Poland, Neurology (clinical), business, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34e74cd3cea57bd7bd556a76e4fa8c3eTest
https://doi.org/10.1016/j.nmd.2008.02.001Test -
10
المؤلفون: Hanna Drac, Diane L. Sherman, Dagmara Kabzińska, Andrzej Kochański, Peter J. Brophy, Anna Kostera-Pruszczyk, Irena Hausmanowa-Petrusewicz
المصدر: Neurology. 66:745-747
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Disease, Biology, medicine.disease_cause, Exon, Degenerative disease, Sural Nerve, Charcot-Marie-Tooth Disease, medicine, Humans, Age of Onset, Child, Gene, Sequence Deletion, Genetics, Mutation, Genetic Carrier Screening, Membrane Proteins, Protein level, Exons, Anatomy, medicine.disease, Membrane protein, Neurology (clinical), Age of onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::517824767623d2ac37bf6116640c3464Test
https://doi.org/10.1212/01.wnl.0000201269.46071.35Test