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1
المؤلفون: Biruta Kierdaszuk, Anna Kostera-Pruszczyk, Miłosz Jastrzębski, Marta Lipowska, Anna Łusakowska, Aleksandra Jastrzębska, Anna Potulska-Chromik, Anna Kamińska
المصدر: Acta Neurologica Scandinavica. 140:239-243
مصطلحات موضوعية: Adult, Male, myalgia, medicine.medical_specialty, Adolescent, Compound heterozygosity, Frameshift mutation, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, Genetic Testing, 030212 general & internal medicine, Child, Aged, Aged, 80 and over, Glycogen Storage Disease Type II, business.industry, Muscle weakness, General Medicine, Enzyme replacement therapy, Middle Aged, Dried blood spot, Muscular Dystrophies, Limb-Girdle, Neurology, Child, Preschool, Mutation, Cohort, Female, Dried Blood Spot Testing, Poland, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a96c46828960b42652f1ea1167996dTest
https://doi.org/10.1111/ane.13133Test -
2
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 -
3
المؤلفون: Wioletta Krysa, Anna Sulek, Anna Kamińska, Monika Nojszewska, Malgorzata Gawel, Andrzej Seroka, Janusz Sierdziński, Anna Lusakowska, Anna Kostera-Pruszczyk, Ewelina Elert-Dobkowska
المصدر: Journal of electromyography and kinesiology : official journal of the International Society of Electrophysiological Kinesiology. 49
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Needle emg, Adolescent, Myotonia Congenita, Myotonic discharges, Biophysics, Neuroscience (miscellaneous), Genes, Recessive, Biceps, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, Child, Muscle, Skeletal, Genes, Dominant, CLCN1, biology, business.industry, Myotonia congenita, Electromyography, 030229 sport sciences, Middle Aged, medicine.disease, Evoked Potentials, Motor, Motor unit, Child, Preschool, Significant positive correlation, Mutation, biology.protein, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a983a6f54832569373e5a885ca64b7Test
https://pubmed.ncbi.nlm.nih.gov/31610484Test -
4
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 -
5
المؤلفون: Anna Kamińska, Agnieszka Dramińska, Aleksey Shatunov, Bertrand Goudeau, Lev G. Goldfarb, Kazuyo Takeda, Nyamkhishig Sambuughin, Anna Kostera-Pruszczyk, Patrick Vicart, Sergei V. Strelkov, Piotr Pruszczyk
المصدر: International Journal of Cardiology. 117:244-253
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Cardiomyopathy, macromolecular substances, Transfection, medicine.disease_cause, Cell Line, Desmin, Myoblasts, Mice, Internal medicine, medicine, Animals, Humans, Point Mutation, Myopathy, Intermediate filament, Family Health, Heart Failure, Cardiomyopathy, Restrictive, Mutation, Crystallography, business.industry, Point mutation, Restrictive cardiomyopathy, Dilated cardiomyopathy, Middle Aged, musculoskeletal system, medicine.disease, Pedigree, Heart Block, Cardiology, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8f820e4b8583f139758af5609cd9039Test
https://doi.org/10.1016/j.ijcard.2006.05.019Test -
6
المؤلفون: Aleksandra, Nadaj-Pakleza, Pascale, Richard, Anna, Lusakowska, Joanna, Gajewska, Zygmunt, Jamrozik, Anna, Kostera-Pruszczyk, Hubert, Kwieciński, Anna, Kamińska
المصدر: Neurologia i neurochirurgia polska. 43(2)
مصطلحات موضوعية: Adult, Cell Nucleus, Male, Genotype, Electromyography, Biopsy, Intranuclear Inclusion Bodies, Mitochondrial Myopathies, Middle Aged, Poly(A)-Binding Protein I, Pedigree, Diagnosis, Differential, Phenotype, Muscular Dystrophy, Oculopharyngeal, Mutation, Humans, Female, Muscle, Skeletal, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::82fd9ba8b0e5ac1906ade7a46e5be0abTest
https://pubmed.ncbi.nlm.nih.gov/19484687Test