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» Authors » Esra Battaloglu

Esra Battaloglu

Explore the profile of Esra Battaloglu including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 36
Citations 1777
Followers 0
Related Specialties
Neurology
Genetics
Oncology
Top 10 Co-Authors
Yesim Parman
Albena Jordanova
Ayse Candayan
Arman Cakar
Vincent Timmerman
Peter De Jonghe
Hacer Durmus
Stephan Zuchner
Derek Atkinson
Haluk Topaloglu
Published In
Brain
Am J Hum Genet
Neurogenetics
Nat Genet
Eur J Neurol
Affiliations
Soon will be listed here.
Recent Articles
1.
Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13
Bertini A, Reilly M, Pisciotta C, Previtali S, Parman Y, Battaloglu E, et al.
Eur J Neurol . 2025 Feb; 32(2):e70084. PMID: 39943887
Background And Aims: In 2019, we conducted a cross-sectional study, collecting information on 50 patients with CMT4B, an ultrarare CMT subtype, to better define the clinical phenotype. We now aimed...
2.
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Cortese A, Dohrn M, Curro R, Negri S, Lassuthova P, Pisciotta C, et al.
Brain . 2025 Feb; PMID: 39938083
Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause the most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, the full genotype-phenotype spectrum and progression of the disease...
3.
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants
Cakar A, Candayan A, Bagirova G, Uyguner Z, Ceylaner S, Durmus H, et al.
Eur J Neurol . 2025 Jan; 32(1):e16572. PMID: 39776111
Background: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy. In this study, we aimed to analyze the genetic spectrum and describe phenotypic features in a large cohort from Türkiye....
4.
A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia
Cakar A, Pekbilir E, Ceylaner S, Durmus H, Battaloglu E, Sahin U, et al.
Amyotroph Lateral Scler Frontotemporal Degener . 2023 Mar; 24(5-6):535-538. PMID: 36935613
is the first identified causative gene for amyotrophic lateral sclerosis. Recently, a novel syndrome, presenting with severe childhood-onset spastic tetraplegia and axial hypotonia caused by the homozygous truncating variants in...
5.
Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages
Candayan A, Parman Y, Battaloglu E
Balkan Med J . 2022 Mar; 39(1):3-11. PMID: 35325986
Inherited peripheral neuropathies (IPNs) are a heterogeneous group of disorders of the peripheral nervous system. The most common type of IPN is Charcot-Marie-Tooth (CMT) disease, which constitutes an interesting research...
6.
Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder
Cakar A, Inci M, Ozdag Acarli A, Comu S, Candayan A, Battaloglu E, et al.
Acta Neurol Scand . 2022 Feb; 145(5):619-626. PMID: 35130357
Objectives: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by the SACS gene variants. Main clinical features include early-onset and progressive cerebellar ataxia, spasticity, sensorimotor polyneuropathy. However, the phenotypic...
7.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Kurolap A, Kreuder F, Gonzaga-Jauregui C, Duvdevani M, Harel T, Tammer L, et al.
Am J Hum Genet . 2022 Feb; 109(3):518-532. PMID: 35108495
Cell adhesion molecules are membrane-bound proteins predominantly expressed in the central nervous system along principal axonal pathways with key roles in nervous system development, neural cell differentiation and migration, axonal...
8.
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
Candayan A, Cakar A, Yunisova G, Ozdag Acarli A, Atkinson D, Topaloglu P, et al.
Neurol Genet . 2021 Sep; 7(5):e621. PMID: 34476298
Background And Objectives: Inherited peripheral neuropathies (IPNs) are a group of genetic disorders of the peripheral nervous system in which neuropathy is the only or the most predominant clinical feature....
9.
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features
Cakar A, Sahin E, Tezel S, Candayan A, Samanci B, Battaloglu E, et al.
Acta Neurol Belg . 2021 Jun; 122(4):939-945. PMID: 34101140
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, slowly progressive disorder characterized by cerebellar ataxia, sensory neuropathy and bilateral vestibulopathy. Recently, a biallelic intronic AAGGG repeat expansion, (AAGGG),...
10.
Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel Mutation
Akdal G, Kocoglu K, Bora E, Koc A, Ulgenalp A, Bedir M, et al.
Neurol Clin Pract . 2021 Apr; 11(2):e129-e134. PMID: 33842081
Purpose Of Review: To report the findings in 12 members over 3 generations of a family with dominantly inherited Charcot-Marie-Tooth disease (CMT1B) due to a novel mutation, who all had...