Takip et
Esra Battaloğlu
Esra Battaloğlu
Professor of Molecular Genetics, Bogazici University
boun.edu.tr üzerinde doğrulanmış e-posta adresine sahip
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
S Züchner, IV Mersiyanova, M Muglia, N Bissar-Tadmouri, J Rochelle, ...
Nature genetics 36 (5), 449-451, 2004
18622004
Voltage-gated sodium channel expression and potentiation of human breast cancer metastasis
SP Fraser, JKJ Diss, AM Chioni, ME Mycielska, H Pan, RF Yamaci, F Pani, ...
Clinical cancer research 11 (15), 5381-5389, 2005
5602005
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases
S Yamamoto, M Jaiswal, WL Charng, T Gambin, E Karaca, G Mirzaa, ...
Cell 159 (1), 200-214, 2014
4002014
Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy
C Gonzaga-Jauregui, T Harel, T Gambin, M Kousi, LB Griffin, ...
Cell reports 12 (7), 1169-1183, 2015
2432015
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
J Senderek, C Bergmann, C Stendel, J Kirfel, N Verpoorten, P De Jonghe, ...
The American Journal of Human Genetics 73 (5), 1106-1119, 2003
2432003
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
C Stendel, A Roos, T Deconinck, J Pereira, F Castagner, A Niemann, ...
The American Journal of Human Genetics 81 (1), 158-164, 2007
1652007
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
nature genetics 44 (10), 1080-3, 2012
1482012
Genetic spectrum of hereditary neuropathies with onset in the first year of life
J Baets, T Deconinck, E De Vriendt, M Zimoń, L Yperzeele, ...
Brain 134 (9), 2664-2676, 2011
1402011
Clinicopathological and genetic study of early-onset demyelinating neuropathy
Y Parman, E Battaloğlu, I Barış, B Bilir, M Poyraz, N Bissar-Tadmouri, ...
Brain 127 (11), 2540-2550, 2004
942004
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis
I Barıs, AE Arısoy, A Smith, M Agostini, CS Mitchell, SM Park, ...
The Journal of Clinical Endocrinology & Metabolism 91 (10), 4183-4187, 2006
882006
Motor protein mutations cause a new form of hereditary spastic paraplegia
A Caballero Oteyza, E Battaloğlu, L Ocek, T Lindig, J Reichbauer, ...
Neurology 82 (22), 2007-2016, 2014
682014
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
M Zimoń, E Battaloğlu, Y Parman, S Erdem, J Baets, E De Vriendt, ...
neurogenetics 16, 33-42, 2015
462015
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D
Y Okamoto, MT Goksungur, D Pehlivan, CR Beck, C Gonzaga-Jauregui, ...
Genetics in medicine 16 (5), 386-394, 2014
462014
Mutational analysis and genotype/phenotype correlation in Turkish Charcot–Marie–Tooth Type 1 and HNPP patients
N Bissar‐Tadmouri, Y Parman, L Boutrand, F Deymeer, P Serdaroglu, ...
Clinical genetics 58 (5), 396-402, 2000
462000
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia
B Ozes, N Karagoz, R Schüle, A Rebelo, MJ Sobrido, F Harmuth, ...
Clinical genetics 92 (5), 534-539, 2017
452017
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole …
D Kancheva, D Atkinson, P De Rijk, M Zimon, T Chamova, V Mitev, ...
Genetics in Medicine 18 (6), 600-607, 2016
432016
Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians
S Önengüt, GN Kavaslar, E Battaloğlu, P Serdaroğlu, F Deymeer, ...
Annals of Human Genetics 64 (1), 33-40, 2000
432000
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability
E Ylikallio, R Woldegebriel, M Tumiati, P Isohanni, MM Ryan, Z Stark, ...
Brain 140 (8), 2093-2103, 2017
392017
Neonatal Nav1. 5 protein expression in normal adult human tissues and breast cancer
RF Yamaci, SP Fraser, E Battaloglu, H Kaya, K Erguler, CS Foster, ...
Pathology-Research and Practice 213 (8), 900-907, 2017
372017
Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies
AO Bayrak, IK Bayrak, E Battaloglu, B Ozes, O Yildiz, MK Onar
Neurological research 37 (2), 106-111, 2015
362015
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Makaleler 1–20