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List of works by Dimitrios I. Zafeiriou

A case presenting with delayed motor milestones

scientific article published on 30 September 2005

Adrenocorticotropic hormone and vigabatrin treatment of children with infantile spasms underlying cerebral palsy.

scientific article published on November 1996

Age of first diagnosis in children with cerebral palsy--the need for new developmental screening tests.

scientific article published in July 1998

Alexander disease

scientific article published on 10 November 2012

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

scientific article

Association of brain-derived neurotrophic factor (BDNF) and elongator protein complex 4 (ELP4) polymorphisms with benign epilepsy with centrotemporal spikes in a Greek population

scientific article published on 22 September 2014

Benign congenital hemifacial spasm ⬇️

scientific article published on September 1, 1997

Brain and spinal MR imaging findings in mucopolysaccharidoses: a review.

scientific article published on 12 July 2012

Castleman's disease presenting as a goiter in a child

scientific article published on 01 January 2003

Central nervous system abnormalities in asymptomatic young patients with Sbeta-thalassemia.

scientific article published on June 2004

Cerebellar agenesis and diabetes insipidus.

scientific article

Childhood autism and associated comorbidities

scientific article

Childhood steroid-responsive painful opthalmoplegia: clues to opthalmoplegic migraine

scientific article published on 01 December 2006

Clinical and laboratory data in a sample of Greek children with autism spectrum disorders

scientific article

Clinical course and seizure outcome of idiopathic childhood epilepsy: determinants of early and long-term prognosis

scientific article

Clinical features, laboratory findings and differential diagnosis of benign acute childhood myositis

scientific article published in December 2000

Congenital Horner's syndrome associated with cervical neuroblastoma

scientific article published on 01 March 2006

Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh syndrome

scientific article published on 01 March 1995

Developing treatment options for metachromatic leukodystrophy.

scientific article published on 18 October 2011

Diverse clinical and genetic aspects of craniofrontonasal syndrome.

scientific article published on February 2011

Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies.

scientific article published in November 1997

Endothelial activation and inflammation biomarkers in children and adolescents with sickle cell disease.

scientific article published on 27 June 2013

Ethylmalonic encephalopathy: clinical and biochemical observations

scientific article (publication date: April 2007)

Familial moyamoya disease in a Greek family.

scientific article

Fetal stroke and cerebrovascular disease: Advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins

scientific article published on 11 September 2018

Growth hormone replacement therapy in Costello syndrome

scientific article published on 01 December 2014

Hemolytic anemia presenting with idiopathic intracranial hypertension.

scientific article published in January 2008

Hypoparathyroidism and intracranial calcifications in beta-thalassemia major

scientific article published in March 2001

Identification of feeding risk factors for impaired nutrition status in paediatric patients with cerebral palsy

scientific article published on 24 March 2012

Images in clinical medicine. Hypoglossal-nerve palsy

scientific article published on 01 January 2004

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

scientific article published on 01 January 2011

Incontinentia pigmenti: a skin, brain, and eye matter.

scientific article published on 26 July 2013

L-2-Hydroxyglutaric aciduria presenting as status epilepticus.

scientific article published in July 2001

L-2-Hydroxyglutaric aciduria presenting with severe autistic features.

scientific article published on 5 November 2007

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

scientific article

MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.

scientific article

Magnetic resonance imaging findings in mild mucopolysaccharidosis II (Hunter's syndrome)

scientific article published on 01 January 1998

Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.

scientific article published on 11 April 2016

Neurological complications in beta-thalassemia.

scientific article

Neurological outcome at 6 and 12 months corrected age in hospitalised late preterm infants -a prospective study.

scientific article published on 6 March 2018

Neurophysiologic Evaluation of Long-Term Desferrioxamine Therapy in Beta-Thalassemia Patients ⬇️

scientific article published on May 1, 1998

Neurophysiologic and intellectual evaluation of beta-thalassemia patients.

scientific article published on 31 May 2005

Neurophysiology and MRI in late-infantile metachromatic leukodystrophy

scientific article published on 01 November 1999

Niemann-Pick type C disease associated with peripheral neuropathy.

scientific article published in September 2003

Noninvasive ultra high-frequency (1kHz) oscillations’ recording: High-fidelity over somatosensory cortex ⬇️

scientific article published on June 9, 2012

Obstetrical brachial plexus palsy

scientific article published on 01 April 2008

PEX1 deficiency presenting as Leber congenital amaurosis

scientific article published on 01 August 2004

Pandemic influenza A (H1N1) 2009-associated hemolytic uremic syndrome

scientific article published on 14 July 2010

Parental reports of health-related quality of life in greek children with neurofibromatosis type 1.

scientific article published in September 2009

Plantar response profile of high-risk infants at one year of life.

scientific article published in August 1999

Plasmalogen levels in Gaucher disease.

scientific article published on 23 May 2008

Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.

scientific article published in August 2005

Primitive reflexes and postural reactions in the neurodevelopmental examination.

scientific article published in July 2004

Prospective follow-up of primitive reflex profiles in high-risk infants: clues to an early diagnosis of cerebral palsy.

scientific article published in September 1995

Prospective study of ankle clonus at the first year of life ⬇️

scientific article published on September 1, 1997

Pseudoaneurysm of the popliteal artery complicated by peroneal mononeuropathy in a 4-year-old child: report of a case

scientific article published on 27 August 2007

Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2.

scientific article published on 22 November 2012

Self-mutilation and mental retardation: clues to congenital insensitivity to pain with anhidrosis.

scientific article published in February 2004

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

scientific article published on April 2012

Serial MRI and neurophysiological studies in late-infantile Krabbe disease

scientific article published in October 1996

Serial magnetic resonance imaging and neurophysiological studies in multiple sulphatase deficiency

scientific article published on 18 September 2007

Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B).

scientific article

Single dose immunoglobulin therapy for childhood Guillain-Barrésyndrome ⬇️

scientific article published on July 1, 1997

Single high-dose immunoglobulin therapy for childhood Guillain-Barré syndrome

scientific article published on 01 July 1999

Somatosensory Evoked Potentials in Children With Bilateral Spastic Cerebral Palsy ⬇️

scientific article published on March 1, 2011

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

scientific article published in March 2010

Subclinical central nervous system involvement and thrombophilic status in young thalassemia intermedia patients of Greek origin.

scientific article published in April 2012

Superior sagittal sinus thrombosis in steroid-resistant nephrotic syndrome.

scientific article

The Complex Interplay of Cortex, Cerebellum, and Age in a Cohort of Pediatric Patients With Tuberous Sclerosis Complex

scientific article published in 2021

Thelarche variant in a girl with Angelman syndrome.

scientific article published in August 2004

Two Greek siblings with sepiapterin reductase deficiency.

scientific article published on 27 May 2008

Tyrosine hydroxylase deficiency with severe clinical course.

scientific article published on 10 February 2009

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

scientific article published on 29 April 2010

Ulnar hypoplasia and neurofibromatosis type I.

scientific article published in December 2004

Unraveling the brainstem mysteries in late-preterm infants

scientific article published on 4 October 2011

Using postural reactions as a screening test to identify high-risk infants for cerebral palsy: a prospective study ⬇️

scientific article published on August 1, 1998

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