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Browsing Moleküler Biyoloji ve Genetik by Author

Browsing Moleküler Biyoloji ve Genetik by Author "Battaloğlu, Esra."

Now showing items 21-27 of 27

Mutation, exome sequencing and linkage analyses in Turkish CMT families

Erdoğan, Alperen. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2012., 2012.)

Charcot-Marie-Tooth disease (CMT) also known as hereditary motor and sensory neuropathy (HMSN) is the most frequent inherited neuropathy. The patients with CMT generally have distal muscle weakness and atrophy in the ...
Mutational analysis of the ARX gene and whole exome sequencing in epileptic encephalopathy patients

Özünlü, Hande. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2019., 2019.)

The term epileptic encephalopathy (EE) is used to describe epileptic syndromes with generally early onset, within the first year of life, refractory to drug treatment and poor developmental outcome. The genetics of epileptic ...
Screening of autosomal recessive Charcot-Marie-Tooth (ARCMT2), distal hereditary motor neuropathy (dHMN) and hereditary spastic paraplegia (HSP) patients for mutations in axonal neuropathy genes

Şenergin, H. Başak. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2006., 2006.)

Charcot-Marie-Tooth Disease (CMT), distal Hereditary Motor Neuropathy (HMN) and Hereditary Spastic Paraplegia (HSP) constitute the largest group of inherited diseases affecting the peripheral nervous system. In the scope ...
Screening of spastin, atlastin, nipa1 and reep1 genes in hereditary spastic paraplegia patients

Atay, Çiğdem. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2008., 2008.)

Hereditary Spastic Paraplegia (HSP), also known as Strümpell-Lorrain Syndrome or Familial Spastic Paraplegia (FSP), is a group of inherited neurodegenerative disorders that is characterized by progressive spasticity and ...
The effect of nNav1.5 gene expression in breast cancer metastasis

Yamacı, Rezan Fahrioğlu. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2006., 2006.)

Breast cancer is the most common cancer among women. Its metastasis is lethal that can not be detected at microscopic levels using current techniques. Thus, there is need for reliable early metastasis markers. Neonatal ...
The myelination puzzle: do fibroblast growth factors and their receptors have regulatory roles in peripheral nerve myelination?

Dağlıkoca, Emine Duygu. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2014., 2014.)

Axon-Schwann cell interaction is the key step in myelination and critical in the pathogenesis of peripheral neuropathies. Molecules mediating this interaction to promote the complex mechanism of myelination have not been ...
X-linked Charcot-Marie -Tooth neuropathy: mutation and haplotype analyses

Akat, İrem. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2009., 2009.)

Charcot-Marie-Tooth disease is the most common peripheral neuropathy with a prevalence of 17-40 per 100.000 individuals. X-linked Charcot-Marie-Tooth (CMTX) disease accounts for up to 15% of all CMT cases. There are five ...

Browsing Moleküler Biyoloji ve Genetik by Author "Battaloğlu, Esra."

Browsing Moleküler Biyoloji ve Genetik by Author "Battaloğlu, Esra."

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