G. Haliloglu

发表

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.

P. Simsek-Kiper, G. Utine, K. Boduroğlu, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Evaluation of changes in physician behavior after introduction of pediatric syncope approach protocol in the emergency department.

D. Yalnızoǧlu, D. Alehan, O. Teksam, 2022, The American journal of emergency medicine.

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.

Developmental parameters and physical fitness in preschool children with Minor Neurological Dysfunction.

Halil Alkan, A. Mutlu, G. Haliloglu, 2021, The Turkish journal of pediatrics.

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.

N. Longo, C. V. van Karnebeek, B. Maranda, 2014, Molecular genetics and metabolism.

When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center.

M. Topcu, T. Coşkun, E. Vezir, 2012, The Turkish journal of pediatrics.

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

H. Topaloglu, G. Kale, T. Willer, 2005, Neuromuscular Disorders.

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

Susan C. Brown, F. Muntoni, H. Topaloglu, 2003, Neurology.

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.

Assessment of Whole-Brain White Matter by DTI in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

K. Doerschner, M. Alikaşifoğlu, Ç. Temucin, 2013, American Journal of Neuroradiology.

Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II)

K. Oguz, E. Utine, Y. Alanay, 2012, European Journal of Pediatrics.

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.

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

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

Molybdenum Cofactor Deficiency: Report of Three Cases Presenting as Hypoxic Ischemic Encephalopathy

I. Saatci, M. Topcu, T. Coşkun, 2001, Journal of child neurology.

The genomic and clinical landscape of fetal akinesia

M. Cossée, R. Heller, A. Koy, 2019, Genetics in Medicine.

Arthrogryposis and fetal hypomobility syndrome.

H. Topaloglu, G. Haliloglu, 2013, Handbook of clinical neurology.

Two patients with ‘Dropped head syndrome’ due to mutations in LMNA or SEPN1 genes

A. D’Amico, S. Benedetti, E. Bertini, 2005, Neuromuscular Disorders.

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

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

Early-onset chronic axonal neuropathy, strokes, and hemolysis

I. Gut, J. Melki, J. Maluenda, 2015, Neurology.

Neonatal-Onset Recurrent Guillain-Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency.

H. Topaloglu, K. Oguz, M. Alikaşifoğlu, 2017, Neuropediatrics.

Challenges in pediatric chronic inflammatory demyelinating polyneuropathy

H. Topaloglu, Ç. Temucin, D. Yüksel, 2016, Neuromuscular Disorders.

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.

Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

M. Main, F. Muntoni, A. Beggs, 2020, Annals of clinical and translational neurology.

Clinical features, muscle biopsy scores, myositis specific antibody profiles and outcome in juvenile dermatomyositis.

S. Ozen, H. Topaloglu, B. Talim, 2020, Seminars in arthritis and rheumatism.

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

E. Aronica, P. Andersen, P. van Damme, 2019, Annals of clinical and translational neurology.

3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.

T. Coşkun, H. Topaloglu, M. Kılıç, 2009, The Turkish journal of pediatrics.

Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation

H. Topaloglu, S. Çırak, B. Talim, 2017, Neuromuscular Disorders.

Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features.

J. Winkler, H. Topaloglu, B. Talim, 2004, Acta myologica.

The role of electrocardiography in the diagnosis of spinal muscular atrophy type III.

B. Anlar, G. Haliloglu, Mesut Gungor, 2015, The Journal of pediatrics.

Neuroblastoma in a Patient With Spinal Muscular Atrophy Type I

B. Yalçın, T. Kutluk, E. Sağ, 2015, Journal of child neurology.

Clinical and molecular evaluation of 16 patients with Rett syndrome.

E. Taşkiran, P. Simsek-Kiper, G. Utine, 2018, The Turkish journal of pediatrics.

Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience

H. Topaloglu, M. Alikaşifoğlu, G. Haliloglu, 2018, Neuropediatrics.

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

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

Glycosylation defects in muscular dystrophies

H. Topaloglu, G. Haliloglu, H. Topaloğlu, 2004, Current opinion in neurology.

A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy

B. Salancı, M. Alikaşifoğlu, Y. Alanay, 2013, Journal of child neurology.

Causes a Human Phenotype With Cerebellar Ataxia and Atrophy GRID 2 A Homozygous Deletion in

B. Salancı, M. Alikaşifoğlu, Y. Alanay, 2013 .

Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome

U. Arslan, B. Akpınar, K. Oguz, 2014, American journal of medical genetics. Part A.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Anita MacDonald, Flemming Skovby, Brian Fowler, 2014, Orphanet Journal of Rare Diseases.

Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies

P. Striano, S. Auvin, C. Mühlhausen, 2021, Expert review of neurotherapeutics.

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

M. Baumgartner, M. Hochuli, S. Grünert, 2021, Journal of inherited metabolic disease.

Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

O. Sanal, I. Tezcan, Dara M Strauss-Albee, 2012, Journal of Clinical Immunology.

Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment

A. Tokatlı, G. Haliloglu, Yılmaz Yıldız, 2016, Neuropediatrics.

Conventional and advanced MR imaging in infantile Refsum disease.

T. Coşkun, R. Wanders, M. Kılıç, 2015, The Turkish journal of pediatrics.

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.

T. Coşkun, H. Topaloglu, B. Talim, 2019, Pediatric neurology.

Calpain-3 mutations in Turkey

I. Richard, H. Topaloglu, E. Tan, 2006, European Journal of Pediatrics.

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

G. Ravenscroft, E. Todd, N. Romero, 2015, Orphanet Journal of Rare Diseases.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

E. Bertini, F. Muntoni, R. Bryson-Richardson, 2013, American journal of human genetics.

Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay.

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

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of α-dystroglycan

F. Muntoni, H. Topaloglu, G. Kale, 2003, Neuromuscular Disorders.

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

G. Ravenscroft, L. Swanson, A. Beggs, 2014, American journal of human 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.

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights

S. Yılmaz, A. Engel, B. Anlar, 2017, Journal of child neurology.

Early onset collagen VI myopathies: Genetic and clinical correlations

F. Rivier, A. Toutain, B. Echenne, 2010, Annals of neurology.

Relapsing Herpes simplex virus encephalitis despite high-dose acyclovir therapy: a case report.

A. Kara, I. Devrim, G. Seçmeer, 2008, The Turkish journal of pediatrics.

98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE 26–28th October, 2001, Naarden, The Netherlands

E. Mercuri, K. Bushby, F. Muntoni, 2002, Neuromuscular Disorders.

Ullrich Congenital Muscular Dystrophy

H. Topaloglu, G. Haliloglu, H. Topaloğlu, 2020, Definitions.

Expanding the phenotypic spectrum associated with mutations of DYNC1H1

G. Ravenscroft, N. Laing, M. Delatycki, 2017, Neuromuscular Disorders.

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

M. Hurles, C. Walsh, F. Muntoni, 2013, American journal of human genetics.

Congenital Muscular Dystrophy and Hypoglycosylation of a-Dystroglycan

M. Hurles, C. Walsh, F. Muntoni, 2013 .

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients

H. Topaloglu, B. Talim, G. Haliloglu, 2015, Journal of Inherited Metabolic Disease.

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medici

H. Topaloglu, G. Haliloglu, H. Topaloğlu, 2015, Neurology.

Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency

I. Tezcan, B. Anlar, D. Çağdaş, 2019, Neuropediatrics.

New-Onset Ocular Myasthenia after Multisystem Inflammatory Syndrome in Children

B. Anlar, Y. Ozsurekci, O. Demir, 2022, The Journal of Pediatrics.

Answer to Hypotonia: A Simple Hemogram

A. Kara, G. Kanra, S. Unal, 2005, Journal of child neurology.

Recurrent pseudotumoral hemicerebellitis: neuroimaging findings

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

Sydenham’s Chorea: A Case Report and Review of the Literature

A. Kara, D. Alehan, Y. Ozsurekci, 2012 .

Childhood Epilepsy with Occipital Paroxysm: Classification, Atypical Evolution and Long-Term Prognosis in 35 Patients.

D. Yalnızoǧlu, G. Turanlı, A. Aksoy, 2015, The Turkish journal of pediatrics.

Hypertrophic olivary degeneration in children: four new cases and a review of the literature with an emphasis on the MRI findings.

K. Oguz, S. E. Sanverdi, G. Haliloglu, 2012, The British journal of radiology.

Bi‐allelic mutations in MYL1 cause a severe congenital myopathy

A. Forrest, F. Muntoni, G. Ravenscroft, 2018, Human molecular genetics.

Nervous system complications of varicella-zoster virus infections: A tertiary center experience

Y. Ozsurekci, A. Cengiz, G. Haliloglu, 2017 .

The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy

S. Yılmaz, A. Smorenburg, S. Bertoli, 2021, Disability and rehabilitation.

Mycoplasma pneumoniae-associated transverse myelitis with unexpected rapid response to macrolide therapy: a case report.

A. Kara, I. Devrim, H. Tezer, 2008, The Turkish journal of pediatrics.

Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

O. Sanal, I. Tezcan, Dara M Strauss-Albee, 2012, Journal of Clinical Immunology.

Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features

E. Utine, M. Alikaşifoğlu, E. Taşkiran, 2021, American journal of medical genetics. Part A.

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

P. Nürnberg, H. Topaloglu, S. Çırak, 2016, Journal of Human Genetics.

Wernicke encephalopathy due to thiamine deficiency after surgery on a child with duodenal stenosis.

S. Ekinci, P. Akkus, E. Arslan, 2014, Pediatric neurology.

Benign monomelic amyotrophy in a 7-year-old girl with proximal upper limb involvement: case report.

H. Topaloglu, A. Karaduman, I. Alemdaroğlu, 2011, The Turkish journal of pediatrics.

Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis.

B. Anlar, S. Aysun, E. Yılmaz, 2003, The Turkish journal of pediatrics.

The general movements assessment and effects of an early intervention in an infant with Cri du chat syndrome: a case report.

A. Mutlu, A. Livanelioğlu, G. Haliloğlu, 2021, The Turkish journal of pediatrics.

Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability

M. Alikaşifoğlu, Y. Alanay, G. Utine, 2011, Molecular Syndromology.

Acute Abducens Nerve Paralysis in the Pediatric Emergency Department: Analysis of 14 Patients

D. Yalnızoǧlu, K. Oguz, O. Teksam, 2016, Pediatric emergency care.

Risk factors for seizure recurrence in a pediatric observation unit.

D. Yalnızoǧlu, O. Teksam, G. Haliloglu, 2019, The American journal of emergency medicine.

Novel insights into diabetes mellitus due to DNAJC3‐defect: Evolution of neurological and endocrine phenotype in the pediatric age group

D. Yalnızoǧlu, K. Oguz, A. Alikaşifoğlu, 2020, Pediatric diabetes.

Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature.

E. Mercuri, F. Muntoni, A. Manzur, 2003, Neuropediatrics.

Gender Prevalence in Childhood Multiple Sclerosis and Myasthenia Gravis

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

A Child with Refractory and Relapsing Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Myopathy: Case-Based Review.

S. Ozen, B. Talim, U. Aydingoz, 2023, Journal of neuromuscular diseases.

Early-onset juvenile dermatomyositis: A tertiary referral center experience and review of the literature.

S. Ozen, B. Talim, E. Sağ, 2022, Seminars in arthritis and rheumatism.

9th International Congress on Psychopharmacology & 5th International Symposium on Child and Adolescent Psychopharmacology

M. Ispir, E. Demirci, Sevgi Özmen, 2017 .

Inflammatory milieu of muscle biopsies in juvenile dermatomyositis

S. Ozen, H. Topaloglu, G. Kale, 2020, Rheumatology International.

Pseudopapilledema in a pediatric kidney transplant recipient

A. Bakkaloğlu, S. Kadayıfçılar, G. Haliloğlu, 2010, Pediatric Transplantation.

Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging

K. Oguz, O. Kandemir, D. Karçaaltıncaba, 2009, Pediatric Radiology.

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

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

Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery?

M. Main, E. Mercuri, F. Muntoni, 2007, Neuromuscular Disorders.

Susceptibility-Weighted Magnetic Resonance Imaging Findings of Two Pediatric Migraine Patients with Aura

E. Arsava, K. Oguz, C. Gunbey, 2015, Neuropediatrics.

Do the physiotherapy results make us happy in a case with ‘happy puppet’ (Angelman) syndrome?

O. Kara, A. Mutlu, M. Gunel, 2010, BMJ Case Reports.

Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder

T. Coşkun, A. Yaramis, G. Haliloglu, 2020, Pediatrics.

A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion

M. Alikaşifoğlu, P. Simsek-Kiper, G. Utine, 2020, Neuropediatrics.

A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type

S. Donkervoort, C. Bonnemann, G. Utine, 2022, The Journal of Pediatric Research.

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

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

Neonatal presentations of neuromuscular disorders.

G. Haliloglu, 2022, European journal of paediatric neurology.

Serum Retinol and β-Carotene Levels in Subacute Sclerosing Panencephalitis

B. Anlar, Serdal Gungor, A. Olmez, 2007 .

H. Topaloglu, G. Haliloglu, H. Topaloğlu, 2015, Neurology.

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

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

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.

Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia.

B. Wirth, B. Anlar, Dominic Winter, 2023, Journal of proteome research.

Ullrich Congenital Muscular Dystrophy

G. Haliloglu, H. Topaloğlu, 2020, Definitions.

Early-onset chronic axonal neuropathy, strokes, and hemolysis

I. Gut, J. Melki, J. Maluenda, 2015, Neurology.

A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories.

H. Kilic, C. Bekircan-Kurt, G. Haliloglu, 2020, Genetic testing and molecular biomarkers.

Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants

P. Simsek-Kiper, G. Utine, Burak Başer, 2024, Molecular Syndromology.

Acute Psychosis and Epileptic Encephalopathy as a Preliminary Symptom Leading to the Diagnosis of Tuberous Sclerosis Complex in an Adolescent

A. Akarsu, H. T. Çak, G. Haliloglu, 2017 .