E. Demir

发表

Does Nephrotoxicity Exist in Pediatric Epileptic Patients on Valproate or Carbamazepine Therapy?

A. Serdaroğlu, N. Buyan, K. Gücüyener, 2015, Journal of child neurology.

Regional brain volume reduction and cognitive outcomes in preterm children at low risk at 9 years of age

A. Serdaroğlu, K. Gücüyener, E. Ergenekon, 2017, Child's Nervous System.

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

B. Echenne, H. Topaloglu, A. Ferreiro, 2002, American journal of human genetics.

Weight gain associated with valproate in childhood.

S. Aysun, E. Demir, Ercan Demir, 2000, Pediatric neurology.

A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families

J. Beckmann, H. Topaloglu, G. Kale, 2000, Journal of medical genetics.

GUILLAIN-BARRE SYNDROME ASSOCIATED WITH HEPATITIS B VACCINE AND A REVIEW OF THE LITERATURE

A. Serdaroğlu, Ç. Kasapkara, E. Demir, 2009 .

Andermann Syndrome in a Turkish Patient

V. Timmerman, H. Topaloglu, P. de Jonghe, 2003, Journal of child neurology.

Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes.

H. Per, M. Canpolat, D. Yalnızoǧlu, 2022, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA→G shows a severe phenotype

X. Estivill, T. Casals, A. Tolun, 2000 .

Collagen VI Status and Clinical Severity in Ullrich Congenital Muscular Dystrophy: Phenotype Analysis of 11 Families Linked to the COL6 Loci

B. Echenne, H. Topaloglu, A. Ferreiro, 2004, Neuropediatrics.

Milk of calcium: A rare manifestation of juvenile dermatomyositis

N. Buyan, B. Talim, İ. Akdulum, 2020, Archives of rheumatology.

Multiple Sclerosis with Onset Younger Than 10 Years in Turkey

H. Per, M. Canpolat, S. Gökben, 2017, Neuropediatrics.

Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.

X. Estivill, T. Casals, A. Tolun, 2000, Journal of medical genetics.

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

F. Baas, J. Gleeson, T. Ben-Omran, 2017, American journal of human genetics.

Retinal Thickness in Pediatric Multiple Sclerosis

K. Gücüyener, E. Gürkaş, Ünsal Yılmaz, 2012 .

A child with atypically subtle clinical presentation of acute arterial ischaemic stroke in the middle cerebral artery

K. Gucuyener, C. Havalı, E. Demir, 2018, Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences.

Mutations in COL 6 A 3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

B. Echenne, H. Topaloglu, A. Ferreiro, 2002 .

A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings

E. Kotilŏglu, E. Demir, S. Müftüoğlu, 1997, Clinical genetics.

Giant axonal neuropathy: clinical and genetic study in six cases

M. Koenig, S. Aysun, H. Topaloglu, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

M. Koenig, B. Tüysüz, H. Topaloglu, 2000, Nature Genetics.

Giant axonal neuropathy locus refinement to a < 590 kb critical interval

M. Hamida, D. Callen, H. Topaloglu, 2000, European Journal of Human Genetics.

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

E. Bertini, D. Cooper, M. Mort, 2011, Orphanet journal of rare diseases.

Molecular Genetic Analysis of the PLP 1 Gene in 38 Families with PLP 1-related disorders : Identification and Functional Characterization of 11 Novel PLP 1 Mutations

E. Bertini, D. Cooper, M. Mort, 2011 .

Atypical Presentations of Subacute Sclerosing Panencephalitis in Two Neurologically Handicapped Cases

A. Serdaroğlu, K. Gucuyener, K. Gücüyener, 2009, Neuropediatrics.

Effect of Alendronate Treatment on the Clinical Picture and Bone Turnover Markers in Chronic Idiopathic Hyperphosphatasia

A. Bereket, B. Özkan,, E. Demir, 2000, Journal of pediatric endocrinology & metabolism : JPEM.

Opsoclonus–myoclonus syndrome following rotavirus gastroenteritis

K. Gucuyener, C. Havalı, E. Demir, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

The effect of topiramate on body weight and ghrelin, leptin, and neuropeptide-Y levels of prepubertal children with epilepsy.

A. Serdaroğlu, A. Bideci, K. Gücüyener, 2014, Pediatric neurology.

3-Methylcrotonyl-CoA Carboxylase Deficiency: Phenotypic Variability in a Family

M. Baumgartner, G. Biberoğlu, A. Hasanoğlu, 2009, Journal of child neurology.

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

J. Winkler, U. Bogdahn, B. Winner, 2006, Neurology.

Effect of Antiepileptic Drugs on Plasma Lipids, Lipoprotein (a), and Liver Enzymes

M. Topbaş, A. Aslan, S. Yıldırmış, 2006, Journal of child neurology.

Benign Familial Infantile Convulsions: Phenotypic Variability in a Family

Güzide Turanl, E. Demir, Dilek Yalnzoğlu, 2005, Journal of child neurology.

Benign Familial Infantile Convulsions: Phenotypic Variability in a Family

E. Demir, Dilek Yalnzoğlu, M. Topçu, 2005, Journal of child neurology.

Clinical and genetic correlate in childhood onset Friedreich ataxia.

N. Ceviz, H. Topaloglu, B. Anar, 1999, Neuropediatrics.

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

P. Pramstaller, L. Ozelius, O. Landt, 2002, Neurology.

Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

N. Buyan, G. Biberoğlu, F. Ezgü, 2021, Journal of Bone and Mineral Metabolism.

Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the α3(VI) N10‐N7 domains

N. Maraldi, C. Capanni, P. Bonaldo, 2006, Journal of cellular physiology.

Reduced Retinal Nerve Fiber Layer Thickness and Macular Volume in Pediatric Multiple Sclerosis

A. Serdaroğlu, K. Gücüyener, E. Gürkaş, 2012, Journal of child neurology.

An unusual presentation of Muscle–Eye–Brain disease: Severe eye abnormalities with mild muscle and brain involvement

G. Comi, K. Gucuyener, B. Talim, 2009, Neuromuscular Disorders.

Childhood Case of Progressive Multifocal Leukoencephalopathy With Improved Clinical Outcome

B. Anlar, U. Liebert, F. Söylemezoğlu, 2005, Journal of child neurology.

Temporary Seizure in an Infant Who Had Been Exposed to G-Amino Butyric Acid Receptor Antagonist Thiocolchicoside.

K. Gucuyener, C. Havalı, E. Demir, 2017, Pediatric emergency care.

Internal carotid artery dissection without intracranial infarct following a minor shoulder trauma: The second pediatric case and review of the literature

A. Serdaroğlu, Z. Öztürk, E. Demir, 2018, Journal of Clinical Neuroscience.

Atypical presentations of SSPE: a clinical study in four cases.

B. Anlar, A. Aksoy, E. Demir, 2007, The Turkish journal of pediatrics.

Autism Spectrum Disorder Management Practices and Level of Knowledge Among General Pediatricians

A. Serdaroğlu, K. Gücüyener, Ş. Soysal, 2015 .

Assessment of mothers’ knowledge and perceptions of electroencephalography and determination of the short-term effect of an informational leaflet

A. Serdaroğlu, K. Gucuyener, Ş. Soysal, 2009, Epilepsy & Behavior.

An ultra-rare cause of severe hypotonia mimicking Pompe disease in an infant: RRM2B related mitochon- drial DNA depletion syndrome with a novel mutation

A. Serdaroğlu, G. Biberoğlu, F. Ezgü, 2021, Neurology Asia.

Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family.

J. Prud'homme, E. Demir, M. Topçu, 2004, Pediatric neurology.

Infantile spasms as the initial symptom of biotinidase deficiency.

O. Kalayci, T. Coşkun, E. Demir, 1994, The Journal of pediatrics.