Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages

Authors: Ayşe Candayan, Yeşim Parman, Esra Battaloğlu

Source: Balkan Medical Journal, Vol 39, Iss 1, Pp 3-11 (2022)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://balkanmedicaljournal.org/text.php?lang=en&id=2363; https://doaj.org/toc/2146-3123; https://doaj.org/toc/2146-3131

Access URL: https://doaj.org/article/25db03c5e95d410282ab20e8df984457

Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease

Authors: Elif GÖKÇAL, Birdal BİLİR, Esra BATTALOĞLU, Resa AYDIN, Zuhal YAPICI

Source: Bezmiâlem Science, Vol 7, Iss 3, Pp 215-220 (2019)

Subject Terms: Pelizaues-Merzbacher disease, Pelizaues-Merzbacher-Like Disease, gap junction protein α12, genotype, phenotype, Medicine (General), R5-920

File Description: electronic resource

Relation: http://bezmialemscience.org/archives/archive-detail/article-preview/genotype-phenotype-correlation-in-pelizaeus-merzba/20565; https://doaj.org/toc/2148-2373

Access URL: https://doaj.org/article/5c6310c0d99248609049ab22057db45f

A Family with Vocal Cord Paralysis Associated with GDAP1 Mutation in Giresun, Turkey

Authors: Nilgün Erten, Esra Battaloğlu, Alperen Erdoğan, Erdal Seren

Source: Türk Nöroloji Dergisi, Vol 21, Iss 3, Pp 124-126 (2015)

Subject Terms: Vocal cord paralysis, hereditary neuropathy, GDAP1 gene, Medicine, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-38358&look4=; https://doaj.org/toc/1301-062X

Access URL: https://doaj.org/article/6c78177cbd5b45108e86cb42753333da

Hereditary Neuropathy with Liability to Pressure Palsy: The Clinical and Electrophysiological Features of Four Families

Authors: Ayşe Oytun Bayrak, Esra Battaloğlu, Handan Akar, İbrahim Barış, Musa Kazım Onar

Source: Türk Nöroloji Dergisi, Vol 16, Iss 4, Pp 193-198 (2010)

Subject Terms: Neuropathy, hereditary, liability to pressure palsies, electrophysiology, Medicine, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-49368; https://doaj.org/toc/1301-062X; https://doaj.org/toc/1309-2545

Access URL: https://doaj.org/article/e886fa9a106a4eb3b2299d2595304cd1

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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Authors: Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N. Jhangiani, Matthew N. Bainbridge, Kim S. Lawson, Davut Pehlivan, Yuji Okamoto, Marjorie Withers, Pedro Mancias, Anne Slavotinek, Pamela J. Reitnauer, Meryem T. Goksungur, Michael Shy, Thomas O. Crawford, Michel Koenig, Jason Willer, Brittany N. Flores, Igor Pediaditrakis, Onder Us, Wojciech Wiszniewski, Yesim Parman, Anthony Antonellis, Donna M. Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski

Source: Cell Reports, Vol 12, Iss 7, Pp 1169-1183 (2015)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124715007639; https://doaj.org/toc/2211-1247

Access URL: https://doaj.org/article/b23784000fc94e8fa5337756d5dd9e52

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