Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Piraye Oflazer-Serdaroglu"'
Autor:
Hülya Kayserili, Haluk Topaloglu, Ayaz Aghayev, Zehra Oya Uyguner, Sahin Avci, Hacer Durmus, Zuhal Yapici, Pinar Tekturk, Seher Başaran, Yesim Parman, Umut Altunoglu, Piraye Oflazer-Serdaroglu, B Sevinc Rustemoglu, Gulendam Bagirova, Feza Deymeer, Güven Toksoy, Birsen Karaman
Publikováno v:
Neuromuscular Disorders. 29:601-613
We genetically evaluated 260 dystrophinopathy patients from Turkey. Karyotyping as an initial test in female patients, followed stepwise by multiplex ligation-dependent probe amplification and by targeted next-generation sequencing of DMD revealed de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::190147c364cb01ee776840e7569ad457
https://doi.org/10.1016/j.nmd.2019.03.012
https://doi.org/10.1016/j.nmd.2019.03.012
Autor:
Yesim Gulsen-Parman, Feza Deymeer, Hacer Durmus, Ravza Yilmaz, Memduh Dursun, Piraye Oflazer-Serdaroglu, Marina Cuttini
Publikováno v:
Muscle & Nerve. 55:651-656
Introduction In this study we sought to identify magnetic resonance imaging (MRI) signs of selective muscle involvement and disease progression in patients with spinal muscular atrophy type 3b (SMA3b). Methods Twenty-five patients with genetically co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5cce6b433c010b59ed06e49c19ea5b20
https://doi.org/10.1002/mus.25385
https://doi.org/10.1002/mus.25385
Publikováno v:
Neuromuscular Disorders. 29:S140-S141
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4175cd1990bc31254bc436f17660515a
https://doi.org/10.1016/j.nmd.2019.06.367
https://doi.org/10.1016/j.nmd.2019.06.367
Publikováno v:
Türk Nöroloji Dergisi, Vol 20, Iss 4, Pp 121-125 (2014)
OBJECTIVE: Oculopharyngodistal myopathy (OPDM) has been reported as a rare, adult-onset hereditary muscle disease. Patients show progressive oculopharyngeal and distal limb muscle involvement. As the genetic defect underlying OPDM is not known yet, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e4a1952340c01bc4e35b95b795baccf
http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-52385&look4=
http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-52385&look4=
Autor:
Feza Deymeer, Yesim Gulsen-Parman, Vuslat Yilmaz, Güher Saruhan-Direskeneli, Piraye Oflazer-Serdaroglu, Ozlem Gungor-Tuncer, Alper Toker
Publikováno v:
European neurology. 78(3-4)
Background: The difficult course of patients with myasthenia gravis (MG) with anti-muscle-specific tyrosine kinase antibodies (MuSK) has been emphasized. However, no clear information is available on patients who have a benign course. Methods: This s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f50d6599f85e37d6ca2feda834ab6da9
https://pubmed.ncbi.nlm.nih.gov/28768265
https://pubmed.ncbi.nlm.nih.gov/28768265
Autor:
Hacer, Durmus, Ravza, Yilmaz, Yesim, Gulsen-Parman, Piraye, Oflazer-Serdaroglu, Marina, Cuttini, Memduh, Dursun, Feza, Deymeer
Publikováno v:
Musclenerve. 55(5)
In this study we sought to identify magnetic resonance imaging (MRI) signs of selective muscle involvement and disease progression in patients with spinal muscular atrophy type 3b (SMA3b).Twenty-five patients with genetically confirmed SMA3b underwen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fdbe8830f30acb7140f35fb67b78e78e
https://pubmed.ncbi.nlm.nih.gov/27543937
https://pubmed.ncbi.nlm.nih.gov/27543937
Autor:
Piraye Oflazer-Serdaroglu, Yesim Parman, Mürüvvet Poyraz, Zeliha Matur, Esra Battaloglu, Feza Deymeer
Publikováno v:
Muscle & Nerve. 43:657-664
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9760b9a33573c2e9add453d0a9f71082
https://doi.org/10.1002/mus.21932
https://doi.org/10.1002/mus.21932
Autor:
Piraye Oflazer-Serdaroglu, Yesim Parman, Zeliha Matur, Feza Deymeer, Hacer Durmuş-Tekçe, Arman Çakar, Mehveş Poda, Murat Mert Atmaca, Ümit Hıdır Ulaş
Publikováno v:
Neuromuscular disorders : NMD. 26(7)
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. The mutant amyloidogenic transthyretin protein causes the systemic accumulation of amyloid fibrils
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4a8a8e834921ecb30e95a05677fe892
https://pubmed.ncbi.nlm.nih.gov/27238058
https://pubmed.ncbi.nlm.nih.gov/27238058
Publikováno v:
Neuromuscular Disorders. 26:S146
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc5ff6d15a25db647d348297a2577467
https://doi.org/10.1016/j.nmd.2016.06.218
https://doi.org/10.1016/j.nmd.2016.06.218
Autor:
Esra Battaloglu, Zeliha Matur, Yesim Parman, Mürüvvet Poyraz, Feza Deymeer, Piraye Oflazer-Serdaroglu
Publikováno v:
Musclenerve. 43(5)
Introduction: In the demyelinating form of Charcot–Marie–Tooth disease, median motor conduction velocity (MCV) was noted to be around 20 m/s in peripheral myelin protein 22 (PMP22) duplications, in contrast to higher MCVs in connexin 32 gene (Cx3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df613ea5be3ff18e94cb480e23c653cb
https://pubmed.ncbi.nlm.nih.gov/22806384
https://pubmed.ncbi.nlm.nih.gov/22806384