Ayse Nazli Basak, PhD
Affiliations: | Molecular Biology and Genetics | Bogazici University, Istanbul, Turkey |
Area:
Amyotrophic Lateral Sclerosis, Genetics of Neurodegenerative DiseasesGoogle:
"Ayse Basak"Mean distance: 17.97 (cluster 32)
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Publications
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Gultekin M, Dogan ME, Simsir G, et al. (2021) Varied phenotypic spectrum presenting of paroxysmal exercise-induced dyskinesia: a Turkish family with SLC2A1 mutation. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology |
Candayan A, Yunisova G, Çakar A, et al. (2019) The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype. Neurogenetics |
Kocoglu C, Gundogdu A, Kocaman G, et al. (2018) Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families. Neurology. Genetics. 4: e218 |
Akçakaya NH, Yapıcı Z, Tunca Cİ, et al. (2017) A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy. Journal of Neurology, Neurosurgery, and Psychiatry |
Genç G, Apaydın H, Gündüz A, et al. (2016) Successful treatment of Juvenile parkinsonism with bilateral subthalamic deep brain stimulation in a 14-year-old patient with parkin gene mutation. Parkinsonism & Related Disorders. 24: 137-8 |
Iskender C, Kartal E, Akcimen F, et al. (2015) Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11. Neurology. Genetics. 1: e25 |
Synofzik M, Ronchi D, Keskin I, et al. (2012) Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS. Human Molecular Genetics. 21: 3568-74 |
Enunlu I, Ozansoy M, Basak AN. (2011) Alfa-class prefoldin protein UXT is a novel interacting partner of Amyotrophic Lateral Sclerosis 2 (Als2) protein. Biochemical and Biophysical Research Communications. 413: 471-5 |
Lesage S, Patin E, Condroyer C, et al. (2010) Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. Human Molecular Genetics. 19: 1998-2004 |