E. Battaloğlu

发表

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

Eric Boerwinkle, William B. Dobyns, Tomasz Gambin, 2014, Cell.

Combination of myotonic dystrophy and hereditary motor and sensory neuropathy

E. Battaloğlu, A. Başak, S. Kurt, 2010, Journal of the Neurological Sciences.

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

Y. Parman, E. Battaloğlu, H. Topaloglu, 2015, Genetics in Medicine.

A LARGE FAMILY WITH CHARCOT-MARIE-TOOTH TYPE 1A AND TYPE 2 DIABETES MELLITUS

E. Battaloğlu, F. Koç, D. Yerdelen, 2006, The International journal of neuroscience.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, P. van Damme, 2014, neurogenetics.

Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies

E. Battaloğlu, A. O. Bayrak, İ. Bayrak, 2015, Neurological research.

A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)

A. Mégarbané, L. Santoro, Y. Parman, 2019, Annals of neurology.

Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort

Y. Parman, E. Battaloğlu, A. Jordanova, 2021, Neurology: Genetics.

Nerve conduction studies in Charcot–Marie–Tooth disease in a cohort from Turkey

Y. Parman, E. Battaloğlu, F. Deymeer, 2011, Muscle & nerve.

Charcot‐Marie‐Tooth disease associated with Type 2 diabetes mellitus

Y. Parman, E. Battaloğlu, H. Forta, 2001, Diabetic medicine : a journal of the British Diabetic Association.

Congenital Hypothyroidism But Not Athyreosis A Novel Missense Mutation in Human TTF-2 ( FKHL 15 ) Gene Associated with Society

E. Battaloğlu, V. Chatterjee, S. Park, 2006 .

Congenital Hypothyroidism But Not Athyreosis A Novel Missense Mutation in Human TTF-2 (FKHL15) Gene Associated with

Soo-Mi Park, E. Battaloğlu, V. Chatterjee, 2006 .

A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.

E. Battaloğlu, V. Chatterjee, S. Park, 2006, The Journal of clinical endocrinology and metabolism.

Low dose vincristine-induced severe polyneuropathy in a Hodgkin lymphoma patient: a case report (vincristine-induced severe polyneuropathy).

E. Battaloğlu, T. Çil, Y. Tamam, 2009, Journal of pediatric hematology/oncology.

A Family with Vocal Cord Paralysis Associated with GDAP1 Mutation in Giresun, Turkey

E. Battaloğlu, N. Erten, E. Seren, 2015 .

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

R. Schüle, M. Synofzik, E. Battaloğlu, 2017, Clinical genetics.

Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation

G. M. Halmágyi, E. Battaloğlu, G. Akdal, 2020, Neurology. Clinical practice.

Mutational analysis and genotype/phenotype correlation in Turkish Charcot–Marie–Tooth Type 1 and HNPP patients

Y. Parman, E. Battaloğlu, F. Deymeer, 2000, Clinical genetics.

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder

S. Çomu, Y. Parman, E. Battaloğlu, 2022, Acta neurologica Scandinavica.

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Y. Parman, E. Battaloğlu, Byung-Ok Choi, 2019, neurogenetics.

Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease

E. Battaloğlu, Elif Gökçal, Z. Yapıcı, 2018, Bezmialem Science.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, Cell reports.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

P. Lockhart, L. Kauppi, A. Oshlack, 2017, Brain : a journal of neurology.

MCM 3 AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

P. Lockhart, L. Kauppi, A. Oshlack, 2022 .

Voltage-Gated Sodium Channel Expression and Potentiation of Human Breast Cancer Metastasis

R. Coombes, Z. Siwy, D. Latchman, 2005, Clinical Cancer Research.

SIK2 attenuates proliferation and survival of breast cancer cells with simultaneous perturbation of MAPK and PI3K/Akt pathways

Ö. Sahin, E. Battaloğlu, Ipek Coban, 2018, Oncotarget.

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

S. Züchner, K. Zerres, S. Rudnik-Schöneborn, 2003, American journal of human genetics.

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Donna M. Muzny, Yuji Okamoto, Richard A. Gibbs, 2013, Genetics in Medicine.

Genetic spectrum of hereditary neuropathies with onset in the first year of life

B. Ceulemans, Y. Parman, E. Battaloğlu, 2011, Brain : a journal of neurology.

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus–Merzbacher disease

C. Yalçınkaya, E. Battaloğlu, M. Bartnik, 2013, Clinical genetics.

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.

U. Suter, K. Zerres, S. Rudnik-Schöneborn, 2007, American journal of human genetics.

Recessively transmitted predominantly motor neuropathies.

Y. Parman, E. Battaloğlu, 2013, Handbook of clinical neurology.

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

P. Brophy, Y. Parman, E. Battaloğlu, 2004, Brain : a journal of neurology.

Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages

Y. Parman, E. Battaloğlu, Ayşe Candayan, 2022, Balkan medical journal.

Genotype-Phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-Like Disease Running Head : Genotype-Phenotype in Pelizaeus Merzbacher

E. Battaloğlu, Elif Gökçal, Z. Yapıcı, 2018 .

DNA analysis in Turkish Duchenne/Becker muscular dystrophy families

E. Battaloğlu, F. Deymeer, C. Özdemir, 1992, Human Genetics.

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.

J. Gécz, G. Ast, F. Glaser, 2022, American journal of human genetics.

The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype

Y. Parman, E. Battaloğlu, A. Başak, 2019, neurogenetics.

Motor protein mutations cause a new form of hereditary spastic paraplegia

D. Timmann, S. Züchner, B. Bender, 2014, Neurology.

X-linked Charcot-Marie-Tooth disease and multiple sclerosis

Y. Parman, E. Battaloğlu, F. Deymeer, 2007, Journal of Neurology.

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene

S. Züchner, Y. Parman, E. Battaloğlu, 2004, Neurology.

Warfarin maintenance dose associated with genetic polymorphisms of CYP2C9.

E. Battaloğlu, M. Khalaj-Kondori, E. Khaleqsefat, 2017, Hippokratia.

Neonatal Nav1.5 protein expression in normal adult human tissues and breast cancer.

E. Battaloğlu, C. Foster, K. Erguler, 2017, Pathology, research and practice.

A multiplexed ARMS-PCR approach for the detection of common MECP2 mutations.

E. Battaloğlu, I. Baris, 2009, Genetic testing and molecular biomarkers.

A Multiplexed ARMS-PCR Approach for the Detection of CommonMECP2Mutations

E. Battaloğlu, I. Baris, 2009 .

Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians

E. Battaloğlu, F. Calafell, F. Deymeer, 2000, Annals of human genetics.

Clinical and genetic features of PKAN patients in a tertiary centre in Turkey

E. Battaloğlu, M. Gultekin, U. Ozbek, 2017, Clinical Neurology and Neurosurgery.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, Y. Parman, 2014, neurogenetics.

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features

Y. Parman, E. Battaloğlu, H. Hanagasi, 2021, Acta Neurologica Belgica.

A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia

Y. Parman, E. Battaloğlu, A. Çakar, 2023, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Charcot‐Marie‐Tooth disease associated with Type 2 diabetes mellitus

Y. Parman, E. Battaloğlu, H. Forta, 2001, Diabetic medicine : a journal of the British Diabetic Association.

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

S. Züchner, Michael A. Gonzalez, E. Battaloğlu, 2017, Clinical genetics.