Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Anna, Fidziańska"'
Autor:
Haluk Topaloglu, Rocio N. Villar-Quiles, Ulrike Schara, Susana Quijano-Roy, Luciano Merlini, Pascale Richard, Nathalie Goemans, Sandra Donkervoort, Ana Ferreiro, Anna Fidziańska, V. Gonzalez, David Orlikowski, Michel Fardeau, Carsten G. Bönnemann, M. Mayer, Corinne Metay, Brigitte Estournet, M. de Visser, M. von der Hagen, Norma B. Romero
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3584f0d992c977c126dc93013a64f98
Autor:
Agnieszka Madej-Pilarczyk, Magdalena Janus, Stefan Grajek, Adam Niezgoda, Michał Marchel, Anna Fidziańska, Romuald Wojnicz, Irena Hausmanowa-Petrusewicz
Publikováno v:
Journal of Applied Genetics
Laminopathies, a group of heterogeneous disorders associated with lamin A/C gene (LMNA) mutations, encompass a wide spectrum of clinical phenotypes, which may present as separate disease or as overlapping syndromes. We describe a 35-year-old female i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94f00831c3be749458eeb2c1a48a31e4
http://europepmc.org/articles/PMC5243892
http://europepmc.org/articles/PMC5243892
Publikováno v:
Folia Neuropathologica. 4:319-323
Introduction: During human myogenesis and synaptogenesis, the first contact between multiaxonal nerve terminals and the primary myotube occurs at an early stage of gestation, then monoaxonal nerve terminals form and postsynaptic clusters of acetylcho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::495451801c07eed676821c635c677320
https://doi.org/10.5114/fn.2013.39722
https://doi.org/10.5114/fn.2013.39722
Autor:
Agnieszka Madej-Pilarczyk, Manfred Wehnert, Anna Fidziańska, Nguyen Thuy Duong, Niebrój-Dobosz I
Publikováno v:
Europe PubMed Central
The study demonstrates a 12-year-old patient with progressive proximal muscle weakness, joint contractures, rigidity of the neck, and absence of emerin and lamin A in the muscle nuclei, which is caused by intronic mutation IVS3-27del18 (c.266-27del18
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80b44efcee14da927ad662f2b202e506
https://doi.org/10.5414/npp29078
https://doi.org/10.5414/npp29078
Publikováno v:
Clinical Neuropathology. 27:424-429
Objective: Sporadic inclusion body myositis (sIBM) is a chronic acquired inflammatory myopathy. The cause of sIBM remains unknown and its pathogenesis is controversial. There is a hypothesis [Karpati and Carpenter 1993] that the rimmed vacuoles resul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f3b494f8b2e9c9cf99cb823304acb7c
https://doi.org/10.5414/npp27424
https://doi.org/10.5414/npp27424
Autor:
Maria Styczyńska, Anna Fidziańska, Dagmara Kabzińska, Małgorzata Dorobek, Barbara Ryniewicz, Irena Hausmanowa-Petrusewicz
Publikováno v:
Genetic testing and molecular biomarkers. 19(11)
Limb girdle muscular dystrophy 2A (LGMD2A) is the most frequent LGMD variant in the European population, representing about 40% of LGMD. The c.550delA mutation in the CANP3 (calcium activated neutral protease 3) gene is the most commonly reported mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8fab13decf6ed447ffe6e9148ec0038
https://pubmed.ncbi.nlm.nih.gov/26484845
https://pubmed.ncbi.nlm.nih.gov/26484845
Autor:
Agnieszka Madej-Pilarczyk, Anna Fidziańska, Michał Marchel, Grzegorz Opolski, Irena Hausmanowa-Petrusewicz
Publikováno v:
Kardiologia polska. 73(10)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95575f3012998f78669124014be5af7a
https://pubmed.ncbi.nlm.nih.gov/26521841
https://pubmed.ncbi.nlm.nih.gov/26521841
Autor:
Anna Fidziańska, Pascal Richard, Ana Ferreiro, Bertrand Goudeau, Stéphanie Simon, Anna Kostera-Pruszczyk, Patrick Vicart
Publikováno v:
Neuromuscular Disorders. 16:759-762
Myofibrillar myopathies are genetically heterogeneous. We present a sporadic case of an 8-year-old boy with unusual combination of congenital skeletal muscle myopathy, cataract and poly/syndactyly. Muscle pathology revealed a mild myopathic picture w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af0b5eaf2e7c7ec88d17067d2a22d51
https://doi.org/10.1016/j.nmd.2006.07.025
https://doi.org/10.1016/j.nmd.2006.07.025
Autor:
Anna Fidziańska, Zofia Glinka
Publikováno v:
Acta Neuropathologica. 112:185-193
We investigated whether beta-amyloid and tau protein are involved in the formation of inclusion body myositis (IBM)-like inclusions found in children with rimmed vacuoles and congenitally affected muscles. We immunostained muscle biopsy specimens fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::725b572bf186b9b641bbda8db45b8566
https://doi.org/10.1007/s00401-006-0079-3
https://doi.org/10.1007/s00401-006-0079-3
Publikováno v:
Neuromuscular Disorders. 15:753-759
We report a patient with a slow-channel congenital myasthenic syndrome who carries a novel slow-channel mutation in the epsilon subunit of the acetylcholine receptor and has tubulofilamentous inclusion bodies, in skeletal muscle of the type observed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a5799b50d2eae24f0613c1758a33fe1
https://doi.org/10.1016/j.nmd.2005.07.009
https://doi.org/10.1016/j.nmd.2005.07.009