-
1
المؤلفون: Monika Nojszewska, Marek Gołębiowski, Tomasz Mazurczak, Anna Potulska-Chromik, Malgorzata Lukawska, Marta Lipowska, Magdalena Kaliszewska, Anna Kostera-Pruszczyk, Katarzyna Tońska, Edyta Maj
المصدر: Clinical Neurophysiology. 130:e91-e92
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Mutation, medicine.diagnostic_test, business.industry, Mitochondrial disease, Magnetic resonance imaging, Neurological examination, medicine.disease, medicine.disease_cause, Sensory Systems, Cerebrospinal fluid, Neurology, Physiology (medical), medicine, Etiology, Neurology (clinical), Ataxic Gait, business, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8e15a79ba689f5b441e17faec88b0008Test
https://doi.org/10.1016/j.clinph.2019.04.533Test -
2
المؤلفون: P. Halat, A. Jezela-Stanek, Monika Gos, M. Rydzanicz, E. Ciara, Piotr Gasperowicz, E. Dębek, Anna Kostera-Pruszczyk, Maria Jędrzejowska
المصدر: Neuromuscular Disorders. 27:S135
مصطلحات موضوعية: Scapuloperoneal spinal muscular atrophy, Pathology, medicine.medical_specialty, Neurology, TRPV4 gene, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Medicine, In patient, Neurology (clinical), business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::651ed7cec0d286ed0359bcd07b54c840Test
https://doi.org/10.1016/j.nmd.2017.06.158Test -
3
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 -
4
المؤلفون: Anna Fidziańska, Pascal Richard, Ana Ferreiro, Bertrand Goudeau, Stéphanie Simon, Anna Kostera-Pruszczyk, Patrick Vicart
المصدر: Neuromuscular Disorders. 16:759-762
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Muscle Proteins, Biology, Cataract, Desmin, LMNA, Myofibrils, medicine, Humans, Myotilin, Connectin, Child, Muscle, Skeletal, Selenoproteins, Myopathy, Genetics (clinical), Hyaline, Genetics, Microfilament Proteins, alpha-Crystallin B Chain, Skeletal muscle, Lamin Type A, musculoskeletal system, medicine.disease, Congenital myopathy, Cytoskeletal Proteins, Polydactyly, Phenotype, medicine.anatomical_structure, Neurology, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Syndactyly, sense organs, Neurology (clinical), medicine.symptom, Dystrophin, Myopathies, Structural, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af0b5eaf2e7c7ec88d17067d2a22d51Test
https://doi.org/10.1016/j.nmd.2006.07.025Test -
5
المؤلفون: Maria Jędrzejowska, Monika Gos, Anna Kamińska, Eric P. Hoffman, Jaya Punetha, Carsten G. Bönnemann, Yaqun Zou, Anna Kostera-Pruszczyk, Ying Hu, Akanchha Kesari
المصدر: Neuromuscular Disorders. 26:S189
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Collagen xii, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, Myopathy, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f2b6de4f532193c3557695212c092755Test
https://doi.org/10.1016/j.nmd.2016.06.373Test -
6
المؤلفون: Monika Nojszewska, Anna Kostera-Pruszczyk, Ewa Bartnik, Magdalena Kaliszewska, Anna Kamińska, Marek Gołębiowski, Katarzyna Tońska, Edyta Maj, T. Mazurczak
المصدر: Neuromuscular Disorders. 23:830
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ataxia, medicine.diagnostic_test, business.industry, Cauda equina, Magnetic resonance imaging, medicine.disease, Surgery, Dysarthria, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Nerve conduction study, Medicine, Neurology (clinical), Ataxic Gait, medicine.symptom, business, Myoclonus, Polyneuropathy, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1e598e8de9c652d6cdbd3bc41dee3f3dTest
https://doi.org/10.1016/j.nmd.2013.06.663Test -
7
المصدر: Electroencephalography and Clinical Neurophysiology. 99:385
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, General Neuroscience, Multiple sclerosis, Medicine, Neurology (clinical), Sympathetic skin response, business, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d2a1c5c8ebba8b2b97c0a0670c3de8cdTest
https://doi.org/10.1016/0013-4694Test(96)88658-5