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Browsing M.S. Theses by Subject "Charcot-Marie-Tooth disease."

Browsing M.S. Theses by Subject "Charcot-Marie-Tooth disease."

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  • Analysis of the Cx32, MPZ and PMP22 mutations in the Turkish Charcot-Marie-Tooth patients 
    Maracı, Nazmiye Öncü. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2006., 2006.)
    Charcot-Marie-Tooth disease is the most common hereditary peripheral neuropathy with a prevalence rate of one in 2500. Although the disease is classified as demyelinating and axonal CMT based on clinical investigations, ...
  • Detection of DNA duplications in charcot-marie-tooth type 1 (CMT1) patients by DNA analysis 
    Bissar-Tadmouri, Nisrine. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 1997., 1997.)
    Charcot-Marie-Tooth neuropathy (CMT), also known as Hereditary Motor and Sensory Neuropathy (HMSN), is a heterogeneous group of inherited diseases of peripheral nerves. It is estimated that 112500 persons have a form of ...
  • Development of a drosophila CMT model via overexpression and knocking-in of GDAP1 gene 
    Akyüz, Hüseyin Kaya. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2013., 2013.)
    Charcot-Marie-Tooth (CMT) disease is one of the most common inherited disorders of the nervous system. Known also as hereditary motor and sensory neuropathy, this disease is characterized by distal sensory loss, muscle ...
  • Development of a drosophila CMT4A model using imago approach 
    Yıldırım, Kerem. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2013., 2013.)
    Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. So far, approximately 50 genes and loci have been associated with CMT. Mutations in ganglioside-induced differentiation-associated protein ...
  • Expression analysis and behavioral assays in drosophila CMT models 
    Küey, Cansu. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2015., 2015.)
    Charcot–Marie–Tooth (CMT) disease is the most common inherited disorder of the peripheral nervous system. It is characterized by progressive distal sensory loss and weakness, muscle atrophy in hands and lower legs, and ...
  • Functional and morphological evaluation of drosophila CMT models 
    Gökerküçük, Elif Begüm. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2015., 2015.)
    Charcot-Marie-Tooth (CMT) disease is the most frequent inherited peripheral neuropathy in humans with a prevalence of 1 in 2500. It comprises a large group of genetically heterogeneous hereditary motor and sensory neuropathies ...
  • 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 ...
  • 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 ...

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