M. Topçu

C. Gunbey, R. Gocmen, G. Haliloglu, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Management Strategies for CLN2 Disease.

J. Mink, J. Denecke, S. Mikhaylova, 2017, Pediatric neurology.

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

I. Saatci, M. Topcu, A. Dufke, 2004, Human mutation.

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

R. Michelucci, S. Berkovic, J. Serratosa, 1999, Human molecular genetics.

Giant axonal neuropathy: clinical and genetic study in six cases

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

Etiological yield of SNP microarrays in idiopathic intellectual disability.

M. Topcu, B. Anlar, M. Alikaşifoğlu, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

A. Schlessinger, A. Caglayan, M. Topcu, 2016, Cell.

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

C. Walsh, R. Folkerth, A. Barkovich, 2010, Nature Genetics.

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

C. Walsh, A. Barkovich, M. Topcu, 2010, Nature Genetics.

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

C. Walsh, Y. Shugart, M. Ruvolo, 2004, Nature Genetics.

Clinical, electrophysiological and neuropsychological findings of twenty-two children with mesial temporal sclerosis.

I. Saatci, M. Topcu, S. Aysun, 2003, The Turkish journal of pediatrics.

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

A. Palotie, S. Gökben, V. Anttila, 2012, Journal of Medical Genetics.

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

J. Shendure, B. O’Roak, I. Glass, 2015, Journal of Medical Genetics.

Somatic mutations in cerebral cortical malformations.

J. Shendure, I. Scheffer, C. Walsh, 2014, The New England journal of medicine.

Griscelli syndrome: report of three cases.

I. Saatci, F. Ersoy, T. Küçükali, 1995, Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association.

The Rett syndrome in males

G. Turanlı, H. Topaloglu, M. Berker, 1991, Brain and Development.

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

M. Topcu, C. Akyerli, A. Sayi, 2002, European Journal of Human Genetics.

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

A. Munnich, A. Saiardi, N. Boddaert, 2020, Nature Communications.

Mental retardation with rare fragile site expressed at 2q11

T. Tuncalı, A. Tükün, Y. Renda, 2000, Brain and Development.

Malformations of cortical development and epilepsy: evaluation of 101 cases (part II).

I. Saatci, D. Yalnızoǧlu, M. Topcu, 2007, The Turkish journal of pediatrics.

Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Stephan J Sanders, H. Per, R. Bronen, 2010, Nature.

Malformations of cortical development: clinical spectrum in a series of 101 patients and review of the literature (Part I).

I. Saatci, D. Yalnızoǧlu, M. Topcu, 2007, The Turkish journal of pediatrics.

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel

M. Topcu, H. Topaloglu, A. Ceylan, 2019, Brain and Development.

Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.

M. Topcu, B. Çeltikçi, H. A. Ozkara, 2011, Clinical biochemistry.

Streptococcus oralis as a Risk Factor for Middle Cerebral Artery Thrombosis

K. Oguz, E. Kazancı, A. Gurgey, 2005, Journal of child neurology.

Vertigo in childhood: a retrospective series of 100 children.

M. Topcu, B. Anlar, S. Aysun, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family

G. Ciliv, I. Sinici, H. Özkara, 2003, Pediatrics international : official journal of the Japan Pediatric Society.

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

S. Lorenzl, P. Bauer, M. Topcu, 2017, Current medical research and opinion.

Paraneoplastic syndrome manifesting as chronic cerebellar ataxia in a child with Hodgkin disease.

H. Topaloglu, G. Kale, K. Gucuyener, 1992, The Journal of pediatrics.

Childhood disabilities: reappraisal in the high‐tech era

M. Topcu, M. Topçu, 2012, Developmental medicine and child neurology.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Carolyn M Hutter, Edwin W Rubel, Michael Dorschner, 2008, American journal of human genetics.

Brain death: Determination with brain stem evoked potentials and radionuclide isotope studies

M. Topcu, A. Erbengi, B. Erbaş, 2005, Acta Neurochirurgica.

Selective involvement of the quadriceps muscle in congenital muscular dystrophies: An ultrasonographic study

B. Anlar, S. Aysun, H. Topaloglu, 1992, Brain and Development.

Benign Neonatal Sleep Myoclonus Mimicking Status Epilepticus

G. Turanlı, Ş. Altunbaşak, N. Şenbil, 2004, Journal of child neurology.

A case of paroxysmal tonic upgaze of childhood with ataxia.

M. Topçu, R. Apak, 1999, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

C. Walsh, P. Grant, Y. Shugart, 2004, Nature Genetics.

Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience

M. Topcu, I. Lay, E. Fadıloglu, 2019, Prenatal diagnosis.

Otorhinolaryngological, audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C.

M. Topcu, S. Aksoy, N. Demir, 2016, International journal of pediatric otorhinolaryngology.

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.

J. Shendure, B. O’Roak, C. Haldeman-Englert, 2014, American journal of human genetics.

Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey

M. Topcu, H. Topaloglu, K. Oguz, 2017, Acta Neurologica Belgica.

Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy

I. Sinici, H. Özkara, Evren Önder, 2009, Neurological research.

Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning

P. Ellen Grant, Hideyuki Okano, Kiho Im, 2014, Science.

Case of the month

I. Saatci, M. Topcu, T. Karagöz, 2005, European Journal of Pediatrics.

A predominantly cervical form of spinal muscular atrophy.

H. Topaloglu, K. Gucuyener, M. Aksu, 1992, Journal of neurology, neurosurgery, and psychiatry.

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.

Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases

I. Saatci, M. Topcu, M. Topcuoglu, 1998, Brain and Development.

Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel.

J. Beckmann, C. Yalçınkaya, E. Seboun, 2000, American journal of human genetics.

Life-threatening neurological complications after bone marrow transplantation in children

M. Topcu, I. Tezcan, D. Uçkan, 2005, Bone Marrow Transplantation.

International consensus classification of hippocampal sclerosis and etiologic diversity in children with temporal lobectomy

D. Yalnızoǧlu, M. Topcu, F. Söylemezoğlu, 2020, Epilepsy & Behavior.

Intertechnique Agreement in Epilepsy Imaging

D. Yalnızoǧlu, M. Topcu, G. Turanlı, 2019 .

Recurrent pseudotumoral hemicerebellitis: neuroimaging findings

K. Oguz, D. Alehan, G. Haliloglu, 2008, Pediatric Radiology.

Vigabatrin in pediatric patients with refractory epilepsy.

D. Yalnızoǧlu, S. Aysun, G. Turanlı, 2006, The Turkish journal of pediatrics.

Rasmussen encephalitis in childhood

I. Saatci, D. Yalnızoǧlu, M. Topcu, 1999, Child's Nervous System.

Lamotrigine for children with refractory epilepsy

M. Topcu, S. Aysun, G. Turanlı, 2008, The Turkish journal of pediatrics.

Neurologic features as initial presentations of childhood malignancies.

M. Topcu, S. Aysun, H. Topaloglu, 1994, Pediatric neurology.

Leigh syndrome in a 3-year-old boy with unusual brain MR imaging and pathologic findings.

I. Saatci, F. Söylemezoğlu, Z. Akçören, 2000, AJNR. American journal of neuroradiology.

D. Akdemir, B. Özsungur, Özlem Uzun, 2013, Epilepsy & Behavior.

Medulloblastoma in a Child with the Metabolic Disease L-2-Hydroxyglutaric Aciduria

M. Topcu, N. Akalan, S. Palaoğlu, 2002, Pediatric Neurosurgery.

An unusual case of Duchenne muscular dystrophy

Ş. Ayter, H. Topalogˇlu, P. Dinçer, 1993, Brain and Development.

A case of leukoencephalopathy with vanishing white matter.

I. Saatci, F. Söylemezoğlu, M. Topçu, 2000, Neuropediatrics.

Long‐term follow‐up of indirect hyperbilirubinemia in full‐term Turkish infants

E. Özmert, M. Yurdakök, G. Tekinalp, 1996, Acta paediatrica.

Evoked potentials in children with Wilson's disease

G. Turanlı, M. Topcuoglu, G. Nurlu, 2002, Brain and Development.

Cranial MR findings in Wilson's disease

I. Saatci, M. Topcu, A. Besim, 1997, Acta radiologica.

Neurophysiologic features in glutaric aciduria type I.

D. Yalnızoǧlu, M. Topcu, G. Turanlı, 2005, The Turkish journal of pediatrics.

Subacute sclerosing panencephalitis in Turkey: epidemiological features.

B. Anlar, S. Aysun, Y. Renda, 1988, Journal of tropical pediatrics.

Bilateral generalized polymicrogyria (BGP)

A J Barkovich, I. Scheffer, C. Walsh, 2004, Neurology.

Hot Water Epilepsy

T. Zileli, Y. Renda, K. Varlı, 1992, Clinical EEG.

Treatment of a severe conversion disorder in a 10-year-old boy: a case study and overview.

H. Topaloglu, Dilşad Foto-Özdemir, S. Ozusta, 2012, The Turkish journal of pediatrics.

Willingness to participate in clinical treatment research among older African Americans and Whites.

M. Topçu, D. Brown, 2003, The Gerontologist.

Niemann-Pick disease type C in the newborn period: a single-center experience

M. Topcu, H. Demir, A. Yuce, 2017, European Journal of Pediatrics.

Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect

D. Yalnızoǧlu, K. Oguz, A. Dursun, 2019, Journal of inherited metabolic disease.

Effects of Johnstone pressure splints combined with neurodevelopmental therapy on spasticity and cutaneous sensory inputs in spastic cerebral palsy.

A. Livanelioğlu, M. Kerem, M. Topçu, 2001, Developmental medicine and child neurology.

Neurologic outcome in patients with MRI pattern of damage typical for neonatal hypoglycemia

D. Yalnızoǧlu, M. Topcu, G. Turanlı, 2007, Brain and Development.

Neurologic Involvement in Primary Immunodeficiency Disorders

M. Topcu, I. Tezcan, B. Anlar, 2018, Journal of child neurology.

Electrical status epilepticus during sleep: A study of 22 patients

D. Yalnızoǧlu, M. Topcu, G. Turanlı, 2015, Brain and Development.

Surgical management of temporal lobe tumor-related epilepsy in children.

D. Yalnızoǧlu, M. Topcu, G. Turanlı, 2005, Journal of neurosurgery.

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.

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Z. Tümer, J. Christodoulou, M. Larsen, 2018, Clinical genetics.

Surgery for epilepsy in children with dysembryoplastic neuroepithelial tumor: clinical spectrum, seizure outcome, neuroradiology, and pathology

D. Yalnızoǧlu, G. Turanlı, A. Cila, 2009, Child's Nervous System.

C.P.2.12 Congenital muscular dystrophy with mental retardation, dilated cardiomyopathy and abnormally located mitochondria

H. Topaloglu, B. Talim, D. Alehan, 2007, Neuromuscular Disorders.

Clinical and Magnetic Resonance Imaging Features of L-2-Hydroxyglutaric Acidemia: Report of Three Cases in Comparison With Canavan Disease

R. Schutgens, R. Wanders, G. Erdem, 1996, Journal of child neurology.

Impact of Recent Seizures on Cerebral Blood Flow in Patients With Sturge-Weber Syndrome: Study of 2 Cases

A. Ozturk, M. Topcu, B. Anlar, 2007, Journal of child neurology.

Psychiatric evaluation of children with CSWS (continuous spikes and waves during slow sleep) and BRE (benign childhood epilepsy with centrotemporal spikes/rolandic epilepsy) compared to children with absence epilepsy and healthy controls.

G. Turanlı, Y. Taner, E. Erdoğan-Bakar, 2007, The Turkish journal of pediatrics.

Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report

M. Topcu, A. Alikaşifoğlu, Y. Alanay, 2012, Journal of clinical research in pediatric endocrinology.

Arylsulfatase A pseudodeficiency incidence in Turkey.

S. Emre, M. Terzioğlu, Y. Renda, 2000, Turkish Journal of Pediatrics.

Genotype–phenotype analysis of human frontoparietal polymicrogyria syndromes

A. Barkovich, M. Topcu, W. Dobyns, 2005, Annals of neurology.

Non-epileptic paroxysmal events at pediatric video-electroencephalography monitoring unit over a 15-year period

D. Yalnızoǧlu, S. Karahan, G. Turanlı, 2023, Seizure.

L-2-hydroxyglutaric aciduria: a report of 29 patients.

D. Yalnızoǧlu, C. Yalçınkaya, M. Topcu, 2005, The Turkish journal of pediatrics.

L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.

M. Lathrop, R. Wanders, J. Prud'homme, 2004, Human molecular genetics.

N-Acetylaspartic Aciduria in Canavan Disease: Another Proof in Two Infants

H. Topaloglu, O. E. Ozcan, Y. Renda, 1990, Neuropediatrics.

Usefulness of long-term video-EEG monitoring in children at a tertiary care center.

D. Yalnızoǧlu, G. Turanlı, Selin Onay, 2013, The Turkish journal of pediatrics.

Autosomal recessive form of periventricular heterotopia

C. Walsh, Y. Shugart, S. Berkovic, 2003, Neurology.

Outcome and long term follow-up after corpus callosotomy in childhood onset intractable epilepsy

D. Yalnızoǧlu, G. Turanlı, N. Akalan, 2006, Child's Nervous System.

L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings.

M. Topcu, B. Anlar, J. Sass, 2008, Neuropediatrics.

L-2-Hydroxyglutaric aciduria: Identification of ten novel mutations in the L2HGDH gene

H. Omran, M. Topcu, J. Sass, 2008, Journal of Inherited Metabolic Disease.

Primary intracranial extradural Burkitt-type lymphoma

A. Erbengi, M. Büyükpamukçu, K. Tahta, 1991, Child's Nervous System.

Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders.

M. Topcu, K. Oguz, A. Cila, 2010, Diagnostic and interventional radiology.

Lesional resective epilepsy surgery in childhood: Comparison of two decades and long-term seizure outcome from a single center

D. Yalnızoǧlu, F. Söylemezoğlu, G. Turanlı, 2022, Epilepsy Research.

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice

S. Kumandas, M. Topcu, Y. Parman, 2021, Movement disorders : official journal of the Movement Disorder Society.

A case of the cerebro-costo-mandibular syndrome.

A. Gürgey, M. Çağlar, T. Kutluk, 1985, The Turkish journal of pediatrics.

Gender Prevalence in Childhood Multiple Sclerosis and Myasthenia Gravis

D. Yalnızoǧlu, B. Anlar, S. Aysun, 2002, Journal of child neurology.

Mystery Case: Pontine tegmental cap dysplasia in a neonate

H. Topaloglu, P. Simsek-Kiper, Şafak Parlak, 2018, Neurology.

Improvement of Myotonia with Carbamazepine in Three Cases with the Schwartz-Jampel Syndrome

H. Topaloglu, A. Serdaroğlu, K. Gücüyener, 1993, Neuropediatrics.

Evoked potentials in Guillain-Barré syndrome.

M. Topcu, G. Kanra, M. Ergin, 1993, The Turkish journal of pediatrics.

The Prognosis and Survival of Childhood Acute Lymphoblastic Leukemia with Central Nervous System Relapse

M. Topcu, M. Tuncer, S. Unal, 2004, Pediatric hematology and oncology.

Mutations in ARFGEF 2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

C. Walsh, P. Grant, Y. Shugart, 2022 .

Hydrotherapy for Rett syndrome.

Ilker Yilmaz, G. Bumin, M. Uyanık, 2003, Journal of rehabilitation medicine.

CLN7 - Turkish variant late infantile NCL

S. Mole, W. Mitchell, B. Lake, 1999 .

The seizure semiology consistent with frontal lobe symptomatogenic zone in children.

D. Yalnızoǧlu, F. Söylemezoğlu, G. Turanlı, 2016, The Turkish journal of pediatrics.

Peripheral neuropathy in a patient with d-2-hydroxyglutaric aciduria

J. Sass, T. Coşkun, J. Fischer, 2009, Journal of Inherited Metabolic Disease.

Sphingolipidoses in Turkey

H. Özkara, M. Topçu, 2004, Brain and Development.

Effect of botulinum toxin injections into rabbit eye.

G. Kural, S. Akar, M. Topçu, 1999, Strabismus.

Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives

M. Topcu, B. Anlar, K. Oguz, 2020, Molecular genetics and metabolism reports.

Prenatal Diagnosis Of Tay-Sachs Disease

S. Beksaç, A. Özkara, D. Başaran, 2010 .

Stroke Owing to Noncompaction of Myocardium

M. Topcu, A. Cila, A. Gürgey, 2003, Journal of child neurology.

Multicentric angiofollicular lymph-node hyperplasia associated with myasthenia gravis.

R. Doğan, I. Paşaoǧlu, Y. Güngen, 1994, The Thoracic and cardiovascular surgeon.

D-Glyceric Aciduria in a Six-Month-Old Boy Presenting with West Syndrome and Autistic Behaviour

I. Saatci, T. Coşkun, M. Kesimer, 2002, Neuropediatrics.

Pediatric Cardiology Consultation at Long-Term Video EEG Monitoring

D. Yalnızoǧlu, G. Turanlı, C. Gunbey, 2023, Annals of Medical Research.

Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member

M. Topcu, N. Mungan, A. Yuce, 2017, Molecular Diagnosis & Therapy.

Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity.

H. Topaloglu, K. Gücüyener, A. Karaduman, 1998, Neuropediatrics.

Corrigendum: Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

C. Walsh, Y. Shugart, M. Ruvolo, 2004, Nature Genetics.

Sandhoff disease in the Turkish population

H. Özkara, Y. Renda, M. Topçu, 1997, Brain & development (Tokyo. 1979).

Long-term effects of vagus nerve stimulation in refractory pediatric epilepsy: A single-center experience

D. Yalnızoǧlu, G. Turanlı, K. Oguz, 2020, Epilepsy & Behavior.

Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay‐Sachs disease

R. Gravel, B. Akerman, G. Ciliv, 1995, Human mutation.

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

C. Walsh, A. Barkovich, D. Riva, 2010, Brain and Development.

Osteoid osteoma in a 16-year-old boy presenting with atrophy of the left thigh: diagnostic difficulties.

M. Bozkurt, Sinem Akgül, M. Topçu, 2008, The Turkish journal of pediatrics.

P05.11 Miglustat treatment in Niemann-Pick disease type C (NP-C): Clinical experience in two patients

F. Gürakan, A. Yüce, G. Haliloglu, 2011 .

Evoked potentials in full-term and premature infants: a comparative study

G. Erdem, Y. Renda, S. Uysal, 1993, Child's Nervous System.

Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family.

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

Analysis of "pure" congenital muscular dystrophies in thirty-eight cases. How different is the classical type 1 from the occidental type cerebromuscular dystrophy?

D. Yalnızoǧlu, G. Kale, A. Tasdemir, 1994, Neuropediatrics.

Developmental abnormalities and mental retardation: diagnostic strategy.

D. Yalnızoǧlu, M. Topçu, 2013, Handbook of clinical neurology.

Successful treatment of cataplexy in patients with early-infantile Niemann-Pick disease type C: use of tricyclic antidepressants.

A. Yüce, H. T. Çak, G. Haliloglu, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Myelin oligodendrocyte glycoprotein antibodies in genetic leukodystrophies

M. Topcu, B. Anlar, K. Oguz, 2022, Journal of Neuroimmunology.

Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis.

M. Topcu, H. Aydin, B. Çeltikçi, 2012, Clinical biochemistry.

Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey

K. Oguz, E. Arslan, Gökçen Düzgün Konuşkan, 2017, Acta Neurologica Belgica.

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

H. Waterham, H. Mandel, R. Wanders, 2004, Human mutation.

[Childhood Traumas, Attachment and Alexithymia in Adolescentswith Psychogenic Nonepileptic Seizure Type of Conversion Disorder].

D. Akdemir, B. Özsungur, Özlem Uzun, 2019, Turk psikiyatri dergisi = Turkish journal of psychiatry.

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

U. Yiş, S. Kurul, D. Turkdoğan, 2024, Cerebellum.