المؤلفون: Walentyna Szirkowiec, Wioletta Krysa, Maria Rakowicz, Monika Nojszewska, Anna Lusakowska, Marta Rajkiewicz, Elzbieta Zdzienicka, Jacek Zaremba, Hubert Kwieciński, Anna Kamińska, Jolanta Kubalska, Anna Sulek, Anna Kostera-Pruszczyk

المصدر: Neurologia i Neurochirurgia Polska. 52:736-742

مصطلحات موضوعية: musculoskeletal diseases, Proband, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, business.industry, Microsatellite instability, medicine.disease, Myotonia, Polymerase Chain Reaction, Myotonic dystrophy, Pregnancy, Mutation, medicine, Dynamic mutation, Humans, Myotonic Dystrophy, Female, Surgery, Poland, Neurology (clinical), Allele, Trinucleotide repeat expansion, business, Gene, Alleles

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32fb38e0c90828b267b334e991d9cd27Test
https://doi.org/10.1016/j.pjnns.2018.02.008Test

المؤلفون: Anna Kostera-Pruszczyk, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Biruta Kierdaszuk, Magdalena Kaliszewska, Katarzyna Tońska, Anna Kamińska

المصدر: Genes
Volume 12
Issue 1
Genes, Vol 12, Iss 54, p 54 (2021)

مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial encephalomyopathy, Ophthalmoplegia, Chronic Progressive External, Mitochondrial Diseases, Gene Expression, Kearns-Sayre Syndrome, TWNK gene, 0302 clinical medicine, Cerebellum, Medicine, Child, Genetics (clinical), Sequence Deletion, Middle Aged, DNA Polymerase gamma, Mitochondria, Pedigree, Female, medicine.symptom, muscle biopsy, RNASEH1 gene, Adult, medicine.medical_specialty, Mitochondrial DNA, Adolescent, lcsh:QH426-470, Mitochondrial disease, Genetic counseling, Ribonuclease H, DNA, Mitochondrial, Article, Ophthalmoparesis, Diagnosis, Differential, Mitochondrial Proteins, multiple mitochondrial DNA deletions, 03 medical and health sciences, mitochondrial disorders, Mitochondrial Encephalomyopathies, POLG gene, Internal medicine, Genetics, Humans, Muscle, Skeletal, Cerebrum, Aged, Polymorphism, Genetic, business.industry, External ophthalmoplegia, DNA Helicases, medicine.disease, progressive external ophthalmoplegia, lcsh:Genetics, 030104 developmental biology, Poland, mitochondrial DNA deletions, business, Chronic progressive external ophthalmoplegia, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f5e9eb9fa21a47ae74a18085f3fdcc0Test

المؤلفون: Małgorzata Dorobek, Mariusz Ołtarzewski, Ewa Bartnik, Edyta Szymańska, Aleksandra Głowacka, Anna Łusakowska, Elżbieta Ciara, Marta Lipowska, Krystyna H. Chrzanowska, Dorota Piekutowska-Abramczuk, Biruta Kierdaszuk, Katarzyna Tońska, Joanna Pera, Natalia Jurkowska, Jiri Zeman, Małgorzata Rydzanicz, Anna Sulek, Anna Kamińska, Karolina Langiewicz-Wojciechowska, Dariusz Chmielewski, Magdalena Kaliszewska, Marketa Tesarova, Bogdan Brodacki, Paweł Kowalski, Grzegorz Placha, Rafał Płoski, Ewa Jabłońska, Małgorzata Krajewska-Walasek, Joanna Trubicka, Anna Kostera-Pruszczyk, Agnieszka Bakuła, Ewa Pronicka, Dariusz Kuczyński

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Mitochondrial Diseases, Ataxia, Adolescent, Mitochondrial disease, Population, Mutation, Missense, Genes, Recessive, Biology, 03 medical and health sciences, 0302 clinical medicine, Epidemiology, medicine, Humans, Allele, Child, education, Molecular Biology, Allele frequency, Genetics, education.field_of_study, Infant, Newborn, Infant, Diffuse Cerebral Sclerosis of Schilder, Cell Biology, Middle Aged, medicine.disease, DNA Polymerase gamma, 030104 developmental biology, Amino Acid Substitution, Child, Preschool, Cohort, Molecular Medicine, Female, Poland, medicine.symptom, Age of onset, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d39a01306f49659e344165510d03ed2Test
https://ruj.uj.edu.pl/xmlui/handle/item/112814Test

المؤلفون: Elzbieta Fidziańska, Anna Kostera-Pruszczyk, Mariola Holding, Sylwia Jadczak, Jacek Zaremba, Anna Kamińska, Diana Massalska, Janusz Zimowski, Anna Łusakowska

المصدر: Neurologia i neurochirurgia polska. 48(6)

مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, medicine.disease_cause, Frameshift mutation, Dystrophin, Exon, Gene Duplication, Gene duplication, Medicine, Humans, Point Mutation, Multiplex ligation-dependent probe amplification, Muscular dystrophy, Frameshift Mutation, Genetics, Mutation, biology, business.industry, Point mutation, medicine.disease, Muscular Dystrophy, Duchenne, biology.protein, Surgery, Female, Neurology (clinical), Poland, business, Multiplex Polymerase Chain Reaction, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ec7d03cf53c7c946bc6b9665f3823a0Test
https://pubmed.ncbi.nlm.nih.gov/25482253Test