Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Esra Battaloğlu"'
Publikováno v:
Balkan Medical Journal, Vol 39, Iss 1, Pp 3-11 (2022)
Inherited peripheral neuropathies (IPNs) are a heterogeneous group of disorders of the peripheral nervous system. The most common type of IPN is Charcot-Marie-Tooth (CMT) disease, which constitutes an interesting research focus for neurologists and h
Externí odkaz:
https://doaj.org/article/25db03c5e95d410282ab20e8df984457
Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease
Publikováno v:
Bezmiâlem Science, Vol 7, Iss 3, Pp 215-220 (2019)
Objective:Among the hypomyelinating diseases of childhood, Pelizaeus Merzbacher disease (PMD) is caused by X-linked proteolipid protein (PLP) gene mutations, whereas patients without mutations of PLP gene-called Pelizaues Merzbacher-like disease (PML
Externí odkaz:
https://doaj.org/article/5c6310c0d99248609049ab22057db45f
Autor:
Arman Çakar, Emre Pekbilir, Serdar Ceylaner, Hacer Durmuş, Esra Battaloğlu, Umut Şahin, Yeşim Parman
Publikováno v:
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. :1-4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::67e0d74aa3bff61fe55b0b2503c0f3c6
https://doi.org/10.1080/21678421.2023.2189925
https://doi.org/10.1080/21678421.2023.2189925
Publikováno v:
Türk Nöroloji Dergisi, Vol 21, Iss 3, Pp 124-126 (2015)
A Turkish family living in northern Turkey with hereditary neuropathy is described herein. The current study presents two sisters with severe proximal and distal motor deficits, anatomic deformities, such as pes cavus and claw hand, dependent on whee
Externí odkaz:
https://doaj.org/article/6c78177cbd5b45108e86cb42753333da
Autor:
Arman Çakar, Meltem İnci, Ayşe Nur Özdağ Acarlı, Sinan Çomu, Ayşe Candayan, Esra Battaloğlu, Şeyma Tekgül, Ayşe Nazlı Başak, Hacer Durmuş, Yeşim Parman
Publikováno v:
Acta neurologica ScandinavicaREFERENCES. 145(5)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by the SACS gene variants. Main clinical features include early-onset and progressive cerebellar ataxia, spasticity, sensorimotor polyneuropathy. However, the phenotypic spe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cf54dbd443505c9f280788058045608
https://pubmed.ncbi.nlm.nih.gov/35130357
https://pubmed.ncbi.nlm.nih.gov/35130357
Publikováno v:
Türk Nöroloji Dergisi, Vol 16, Iss 4, Pp 193-198 (2010)
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder characterized by acute, painless and recurrent mononeuropathies that are secondary to minor trauma or compression. Diagnosis is often overlooked when deta
Externí odkaz:
https://doaj.org/article/e886fa9a106a4eb3b2299d2595304cd1
Autor:
null Arman Çakar, null Meltem İnci, null Ayşe Nur Özdağ Acarlı, null Sinan Çomu, null Ayşe Candayan, null Esra Battaloğlu, null Şeyma Tekgül, null Ayşe Nazlı Başak, null Hacer Durmuş, null Yeşim Parman
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012a0b25709cb5e9635ac8db51dd7d3e
https://doi.org/10.1111/ane.13592/v2/response1
https://doi.org/10.1111/ane.13592/v2/response1
Autor:
Alina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, Morasha Plesser Duvdevani, Tamar Harel, Luna Tammer, Baozhong Xin, Somayeh Bakhtiari, James Rice, Clare L. van Eyk, Jozef Gecz, Jean K. Mah, Derek Atkinson, Heidi Cope, Jennifer A. Sullivan, Alon M. Douek, Daniel Colquhoun, Jason Henry, Donald Wlodkowic, Yesim Parman, Ayşe Candayan, Elif Kocasoy-Orhan, Anat Ilivitzki, Shiri Soudry, Rina Leibu, Fabian Glaser, Valerie Sency, Gil Ast, Vandana Shashi, Michael C. Fahey, Esra Battaloğlu, Albena Jordanova, Vardiella Meiner, A. Micheil Innes, Heng Wang, Orly Elpeleg, Michael C. Kruer, Jan Kaslin, Hagit Baris Feldman
Publikováno v:
Am J Hum Genet
The American journal of human genetics
The American journal of human genetics
Cell adhesion molecules are membrane-bound proteins predominantly expressed in the central nervous system along principal axonal pathways with key roles in nervous system development, neural cell differentiation and migration, axonal growth and guida
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::728e55ef43dca6709d1765690d9d96c9
https://pubmed.ncbi.nlm.nih.gov/35108495
https://pubmed.ncbi.nlm.nih.gov/35108495
Publikováno v:
Türk Nöroloji Dergisi, Vol 21, Iss 3, Pp 124-126 (2015)
Ad dress for Cor res pon den ce/Ya z›fl ma Ad re si: Nilgun Erten MD, Giresun University Faculty of Medicine, Department of Neurology, Giresun, Turkey Phone: +90 454 310 10 00 E-mail: nderten@hotmail.com Re cei ved/Ge lifl Ta ri hi: 02.07.2014 Ac c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2da03a43eaffd1948488cb72e51684e3
https://hdl.handle.net/20.500.12697/1967
https://hdl.handle.net/20.500.12697/1967
Autor:
Yeşim, Parman, Esra, Battaloğlu
Publikováno v:
Handbook of clinical neurology. 115
Recessively transmitted predominantly motor neuropathies are rare and show a severe phenotype. They are frequently observed in populations with a high rate of consanguineous marriages. At least 15 genes and six loci have been found to be associated w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3ac37ce63062891492c619f9d47b8a1f
https://pubmed.ncbi.nlm.nih.gov/23931818
https://pubmed.ncbi.nlm.nih.gov/23931818