-
1
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
-
2
المؤلفون: Paul Maddison, L. Phillips, Anna Kostera-Pruszczyk, Anna Łusakowska, Ana Töpf, L. Xu, Daniel G. MacArthur, Marta Bertoli, Kristl G. Claeys, Monkol Lek, Ela Akay, Katherine Johnson, Alexandra Bastian, Volker Straub, Stojan Peric, Vidosava Rakocevic Stojanovic, Andreas Hahn
المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)
Orphanet journal of rare diseases 12(1), 173 (2017). doi:10.1186/s13023-017-0722-1
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Candidate gene, Adolescent, lcsh:Medicine, Biology, Compound heterozygosity, Bioinformatics, Sequence variants, Frameshift mutation, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Glycogen storage disease type II, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Exome sequencing, Aged, Aged, 80 and over, Muscle Weakness, Glycogen Storage Disease Type II, Genetic heterogeneity, Research, lcsh:R, Whole exome sequencing, Genetic Variation, Muscle weakness, Pompe disease, alpha-Glucosidases, General Medicine, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Child, Preschool, Female, medicine.symptom, 030217 neurology & neurosurgery
وصف الملف: Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11a5bb4bbf80ab971616404ecc7b297cTest
http://link.springer.com/article/10.1186/s13023-017-0722-1Test -
3
المؤلفون: K. Jozwik-Plebanek, Anna Kostera-Pruszczyk, Andrzej Tykarski, Piotr Dobrowolski, Katarzyna Michel-Rowicka, Krystyna Widecka, Małgorzata Szczerbo-Trojanowska, K. Hanus, Andrzej Januszewicz, P. Talarowska, Marcin Protasiewicz, Dariusz Gąsecki, Anna Członkowska, Elżbieta Florczak, Ilona Michałowska, Marta Sołtysiak, Aleksander Prejbisz, Piotr Szczudlik, Piotr Hoffman, Łukasz Światłowski, Magdalena Januszewicz, Łukasz Tekieli, Iwona Kurkowska-Jastrzębska, Łukasz Stryczyński, Anna Klisiewicz, Beata Błażejewska-Hyżorek, Piotr Odrowąż-Pieniążek, Ewa Warchoł-Celińska
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Ambulatory blood pressure, Computed Tomography Angiography, Cervical Artery, Comorbidity, Fibromuscular dysplasia, Sex Factors, stomatognathic system, Risk Factors, Internal medicine, Hyperlipidemia, medicine, Fibromuscular Dysplasia, Humans, Whole Body Imaging, In patient, Prospective Studies, cardiovascular diseases, Vertebral Artery Dissection, business.industry, Incidence, Incidence (epidemiology), Blood Pressure Monitoring, Ambulatory, Middle Aged, medicine.disease, Dissection, Echocardiography, Hypertension, Cervical Vertebrae, cardiovascular system, Cardiology, Female, Poland, High incidence, Cardiology and Cardiovascular Medicine, business, circulatory and respiratory physiology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5284e7cf9bed69b42945ffcd154f3f3Test
https://ruj.uj.edu.pl/xmlui/handle/item/255871Test -
4
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 -
5
المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck
المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents
المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscleمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION
وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test -
6
المؤلفون: John Tzartos, Anastasios Tsonis, Kleopas A. Kleopa, Chantal M. E. Tallaksen, Dragana Lavrnic, Ivana Basta, Anthony Behin, Socrates J. Tzartos, Feza Deymeer, Stojan Peric, Mario Losen, C. Casasnovas Pons, Angelina H. Maniaol, Carlo Antozzi, Sonia Berrih-Aknin, Amelia Evoli, M. De Baets, F. Hanisch, E. Matsigkou, Renato Mantegazza, Tassos C. Kyriakides, Francesca Andreetta, Anna Kostera-Pruszczyk, Piotr Szczudlik, Güher Saruhan-Direskeneli, Konstantinos Lazaridis, Tarek Sharshar, Paraskevi Zisimopoulou, M. Jakubíkova, A. Vaknin, Hacer Durmus, Vasiliki Zouvelou, Eleni Zamba-Papanicolaou, Talma Brenner, Pilar Martinez-Martinez, Beata Szyluk, Jiri Pitha
المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs - R3 - Neuroscience
المصدر: Journal of Neuroimmunology, 284, 10-17. Elsevier
Journal of Neuroimmunologyمصطلحات موضوعية: Adult, Male, International Cooperation, Immunology, Radioimmunoassay, Thymus Gland, Diagnosis, medicine, Immunology and Allergy, Humans, Receptors, Cholinergic, Cell based assay, Myasthenia gravis, LDL-Receptor Related Proteins, Acetylcholine receptor, Aged, MuSK, Autoantibodies, Neuromyelitis optica, biology, business.industry, Multiple sclerosis, Neuromyelitis Optica, Autoantibody, Receptor Protein-Tyrosine Kinases, Hyperplasia, Middle Aged, medicine.disease, Flow Cytometry, 3. Good health, Settore MED/26 - NEUROLOGIA, Neurology, biology.protein, Cell-based assay, Female, Neurology (clinical), Thymus Hyperplasia, Antibody, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c566b9ba7e0928a801e300de6d24f7fTest
https://doi.org/10.1016/j.jneuroim.2015.04.015Test -
7
المؤلفون: A. Vaknin, Dragana Lavrnic, Eleni Zamba-Papanicolaou, Chantal M. E. Tallaksen, M. DeBaets, M. Frenkian Cuvelier, Stojan Peric, Talma Brenner, John Tzartos, Vasiliki Zouvelou, Beata Szyluk, Carlo Antozzi, Hacer Durmus, Piotr Szczudlik, Konstantinos Lazaridis, Francesca Andreetta, Paraskevi Zisimopoulou, T. Stojkovic, Socrates J. Tzartos, Angelina H. Maniaol, Sonia Berrih-Aknin, Renato Mantegazza, Anna Kostera-Pruszczyk, Feza Deymeer, Mario Losen, Pilar Martinez-Martinez, Panagiota Evangelakou, Kleopas A. Kleopa, Tassos C. Kyriakides, Amelia Evoli, Güher Saruhan-Direskeneli, Ivana Basta
المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs - R3 - Neuroscience
المصدر: Journal of Autoimmunity; Vol 52
Journal of Autoimmunity, 52, 139-145. Elsevier Science
Journal of Autoimmunityمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Thymoma, Adolescent, International Cooperation, Immunology, LRP4, Thymus Gland, Autoantibodies Cell based assay, Young Adult, Sex Factors, Epidemiology, Diagnosis, Humans, Immunology and Allergy, Medicine, Receptors, Cholinergic, Serologic Tests, Age of Onset, Child, Myasthenia gravis, LDL-Receptor Related Proteins, Aged, Autoantibodies, Acetylcholine receptor, Hyperplasia, biology, business.industry, Infant, Newborn, Autoantibody, Infant, Receptor Protein-Tyrosine Kinases, Middle Aged, medicine.disease, 3. Good health, HEK293 Cells, Child, Preschool, Immunoglobulin G, Disease Progression, biology.protein, Female, Therapy, Antibody, business, Lipoprotein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dc6fee35d6be5e7c6c4359d7e4c028eTest
-
8
المؤلفون: Michał Lower, Ewa Bartnik, Ewa Pronicka, Anna Łusakowska, Aneta Kaniak-Golik, Dorota Sabat, Anna Kamińska, Anna Kostera-Pruszczyk, Jakub Kruszewski, Dorota Lutyk, Magdalena Kaliszewska, Biruta Kierdaszuk, Joel Vizueta, Monika Nojszewska, Pawel Golik, Dorota Piekutowska-Abramczuk, Katarzyna Tońska
المصدر: Human Genetics
مصطلحات موضوعية: DNA Replication, Male, Models, Molecular, Mitochondrial DNA, Mitochondrial Diseases, Saccharomyces cerevisiae Proteins, Adolescent, DNA polymerase, Mitochondrial disease, Molecular Sequence Data, DNA-Directed DNA Polymerase, Saccharomyces cerevisiae, DNA, Mitochondrial, medicine, Genetics, Humans, Point Mutation, Genetics(clinical), Amino Acid Sequence, Allele, Cloning, Molecular, Gene, Genetics (clinical), Alleles, Dominance (genetics), Original Investigation, biology, Point mutation, DNA replication, Infant, Middle Aged, medicine.disease, DNA Polymerase I, Molecular biology, Mitochondria, Pedigree, Phenotype, Child, Preschool, biology.protein, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c480f15fcf565572ab756c31ea951413Test