Giant axonal neuropathy: clinical and genetic study in six cases

Autor: Sevim Erdem, Gülşen Köse, L. Cavalier, Michel Koenig, Ercan Demir, Pascale Bomont, Haluk Topaloglu, Pascale Guicheney, S Muftuoglu, Sabiha Aysun, Mehmet Demirci, Meral Topçu, E Tan, A N Cakar

Publikováno v: Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2005, 76 (6), pp.825-32. ⟨10.1136/jnnp.2003.035162⟩

International audience; BACKGROUND: Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly" hair. The disease

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92adda23bf5ac4683338576f4ef845f2
https://doi.org/10.1136/jnnp.2003.035162

Immunohistochemical evaluation of periprosthetic membrane from loose cemented and uncemented total hip arthroplasty

Autor: Bulent, Atilla, Pergin, Atilla, Ahmet M, Tokgözoglu, Ayse N, Cakar, Ahmet M, Alpaslan

Publikováno v: Saudi medical journal. 26(3)

Evaluate the cellular mechanisms responsible for the aseptic loosening of total hip replacements.Twenty periprosthetic membranes were collected during revision procedures at the Department of Orthopedics, Hacettepe University, Ankara, Turkey, during

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7c887a3b9da71e002499ac6d17b1ab55
https://pubmed.ncbi.nlm.nih.gov/15806213

Static and dynamic pressure-volume curves reflect different aspects of respiratory system mechanics in experimental acute respiratory distress syndrome

Autor: A B, Adams, N, Cakar, J J, Marini

Publikováno v: Respiratory care. 46(7)

A lower inflection point, an upper inflection (or deflection) point, and respiratory system compliance can be estimated from an inspiratory static pressure-volume (SPV) curve of the respiratory system. Such data are often used to guide selection of p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5676e24ad2b2c7148b984b3ee34f5a5c
https://pubmed.ncbi.nlm.nih.gov/11455939

MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis?

Autor: M, Tekin, F, Yalçinkaya, N, Cakar, N, Akar, M, Misirlioğlu, H, Taştan, N, Tümer

Publikováno v: Clinical genetics. 57(6)

Familial Mediterranean fever (FMF) is an autosomal recessive disease. It is characterized by recurrent febrile episodes in association with peritonitis, pleuritis, and arthritis. Progressive systemic amyloidosis is the most important complication of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::69fc890006dcdd1143fedfdd40364b9a
https://pubmed.ncbi.nlm.nih.gov/10905662

PW01-025 – Definition of colchicine resistance in FMF

Autor: A Tufan, E Baskin, F Yalcinkaya, E Erken, E Gunal, AM Onat, G Demircin, A Berdeli, H Erdem, O Yavascan, Z Ekinci, H Ozdogan, N Cakar, B Kisacik, O Donmez, B Sozeri, S Bakkaloglu, G Basbozkurt, E Comak, I Gokce, I Dursun, U Kalyoncu, O Ozkaya, I Simsek, A Gul, C Acikel, S Ozen, S Kalman, S Erten, F Yildiz, H Direskeneli, S Yavuz, B Goker, M Gurgoze, E Demirkaya, B Makay, H Ozer, Y Tabel, G Ozcelik, S Senel, S Emre, R Topaloglu, S Yuksel, N Akinci, M Tunca, H Poyrazoglu, T Kasifoglu, A Duzova, F Gok, A Kucuk, S Akar, O Kasapcopur, A Dinc, N Ayaz, E Unsal, S Kavukcu, A Delibas

Publikováno v: Pediatric Rheumatology Online Journal

Familial Mediterranean fever (FMF) is an autoinflammatory disorder, characterized by periodic fever and serosal inflammation. Colchicine is effective in controlling the attacks and preventing the development of amyloidosis. About 5-10% of the patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61bc40135edb5ea7566b6cb778fdf3b3
http://europepmc.org/articles/PMC3952434