List of works by Elżbieta Jurkiewicz

"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.

scientific article published in January 2013

1324 FAT DISTRIBUTION, LIPIDS AND INFLAMMATORY ACTIVITY CORRELATE WITH LIPID INFILTRATION OF THE LIVER IN OBESE/OVERWEIGHT CHILDREN

A Pharmacokinetics, Efficacy, and Safety Study of Gadoterate Meglumine in Pediatric Subjects Aged Younger Than 2 Years

scientific article

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

scientific article

Accuracy of intraoperative registration during electromagnetic neuronavigation in intracranial procedures performed in children.

scientific article published in March 2007

Acute fright induces onset of symptoms in vanishing white matter disease-case report

scientific article published in July 2006

Adenylosuccinate lyase deficiency: the first identified polish patient

scientific article

Angiocentric glioma: a rare intractable epilepsy-related tumour in children.

scientific article published in January 2014

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex.

scientific article published on 19 April 2011

Apparent diffusion coefficient is increased in children with tuberous sclerosis complex personal experience and review of the literature.

scientific article

Arterial hypertension with brachydactyly in a 15-year-old boy.

scientific article

Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.

scientific article

Basal ganglia lesions in children and adults

scientific article

Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease

scientific article published on 8 August 2015

Blood pressure rhythmicity and visceral fat in children with hypertension.

scientific article published on 19 August 2013

Brain MRI in fetuses with cardiac tumours

scientific article published on 31 October 2007

Brain Metastases from Ewing's Sarcoma. A Report of Two Cases and Review of the Literature.

scientific article published on 29 August 2009

CRAN-06. CHILDREN WITH PINEOBLASTOMA. A SINGLE-INSTITUTION SERIES

Cerebellar lesions in children with tuberous sclerosis complex

scientific article published on 30 November 2006

Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex.

scientific article published on 4 January 2011

Cervical spine MRI findings in patients with Mucopolysaccharidosis type II.

scientific article

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

scientific article

Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.

scientific article published on April 2013

Congenital CNS tumors diagnosed on prenatal MRI

scientific article published on 01 August 2011

Congenital brain tumors in a series of 56 patients.

scientific article

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

scientific article published on 4 February 2016

Congenital intramedullary spinal cord tumours: a report of two cases

scientific article published on 01 October 2011

Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex.

scientific article

Contrast enhancement pattern predicts poor survival for patients with non-WNT/SHH medulloblastoma tumours

scientific article published on 11 April 2015

Cyst-like cortical tubers in patients with tuberous sclerosis complex: MR imaging with the FLAIR sequence.

scientific article published on 28 March 2006

Direct trans-sylvian approach to the ventrolateral pons in surgical management of large cystic cavernous malformations of the brain stem in children

scientific article published in January 2003

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.

scientific article published in March 2018

EEG abnormalities preceding the epilepsy onset in tuberous sclerosis complex patients - a prospective study of 5 patients.

scientific article

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

scientific article published on 29 January 2018

Ectopic virilising adrenocortical tumour in the spinal region in an 8 year-old boy: a case report and review of the literature

scientific article

Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex.

scientific article

Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up

scientific article published on 01 December 2012

Epilepsy in newborns with tuberous sclerosis complex.

scientific article

Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.

scientific article published on 21 March 2017

Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy

scientific article published on 16 September 2011

Germinoma Mimicking Brain Inflammation: A Case Report

scientific article published on 20 May 2019

Giant cerebellar cavernous malformation in 4-month-old boy. Case report and review of the literature.

scientific article

Giant intracranial aneurysm in a 9-year-old boy with tuberous sclerosis

scientific article published on 14 March 2006

High Grade Gliomas and DIPG

scholarly article

In vitro anti-HIV-1 activity of chondroitin polysulphate

scientific article (publication date: July 1989)

Infantile spasms and cytomegalovirus infection: antiviral and antiepileptic treatment

scientific article published on 01 September 2007

Infratentorial tumors in children - value of ADC in prediction of grade of neoplasms.

scientific article published on October 2010

Intracerebroventricular Transplantation of Cord Blood-Derived Neural Progenitors in a Child With Severe Global Brain Ischemic Injury

scientific article published on 2 November 2010

LG-35LOW GRADE GLIOMAS (LGG) IN INFANTS - ONE INSTITUTION EXPERIENCE.

scientific article published on 30 May 2016

LG-45DISSEMINATED LOW GRADE GLIOMAS IN CHILDREN (DLGG)- ONE INSTITUTION EXPERIENCE.

scientific article published on 30 May 2016

LG-49LOW GRADE GLIOMA (LGG) OF THE SPINAL CORD. SPECIFIC LOCATION NEEDS SPECIFIC TREATMENT.

scientific article published on 30 May 2016

LG-56NON-INFILTRATING LOW GRADE GLIOMA (LGG) OF THE BRAIN STEM IN CHILDREN. ONE CENTER EXPERIENCE.

scientific article published on 30 May 2016

Leigh disease due to SCO2 mutations revealed at extended autopsy.

scientific article

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

scientific article

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient

scientific article published on 28 January 2011

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings

scientific article published on 09 January 2014

Liver Angiomyolipomas in Tuberous Sclerosis Complex-Their Incidence and Course.

scientific article

Long-term MRI cell tracking after intraventricular delivery in a patient with global cerebral ischemia and prospects for magnetic navigation of stem cells within the CSF

scientific article

Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex

scientific article published on 6 April 2013

MB-02CONTRAST ENHANCEMENT PATTERN IS ASSOCIATED WITH MOLECULAR TYPE OF MEDULLOBLASTOMA TUMOURS AND PREDICTS POOR SURVIVAL FOR PATIENTS.

scientific article published on 30 May 2016

MEDULLOBLASTOMA

MR imaging, apparent diffusion coefficient and histopathological features of desmoplastic infantile tumors-own experience and review of the literature.

scientific article

MR venography in children and adolescents with multiple sclerosis does not show increased prevalence of extracranial veins anomalies.

scientific article

MRCP Versus ERCP in the Evaluation of Chronic Pancreatitis in Children: Which Is the Better Choice?

scientific article

MRI findings in the young infant with brainstem disconnection and extracerebral features. Report of one case and review of the literature

scientific article

MRI in the diagnosis of congenital white matter diseases and other neurodegenerative diseases

scientific article

MRI of a family with leukoencephalypathy with vanishing white matter.

scientific article published on 24 May 2005

Magnetic resonance imaging in the evaluation of the fetal spinal canal contents.

scientific article

Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome

scientific article published on January 2004

Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.

scientific article

Medullary cap dysplasia: MRI and diffusion tensor imaging of a hindbrain malformation

scientific article published in January 2015

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

scientific article published on 18 October 2017

Moyamoya disease associated with stenosis of extracranial arteries: a case report and review of the literature

scientific article

Multiparametric MRI as a Non-Invasive Monitoring Tool for Children with Autoimmune Hepatitis

scientific article published on 09 September 2020

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

scientific article published in February 2018

Naturally occurring V1-env region variants mediate simian immunodeficiency virus SIVmac escape from high-titer neutralizing antibodies induced by a protective subunit vaccine

scientific article published on December 2000

Neuroimaging of multiple sclerosis in children

scientific article

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

scientific article

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

scientific article

Non-neuronopathic Gaucher disease due to saposin C deficiency.

scientific article

PEDIATRICS CLINICAL RESEARCH

Persistent multifocal atrial tachycardia in infant with encephalocraniocutaneous lipomatosis: a case report.

scientific article published on 14 August 2013

Phase II study of anti-CD4 idiotype vaccination in HIV positive volunteers.

scientific article

Phenotype expansion and development in Kosaki Overgrowth Syndrome

scientific article published on 11 December 2017

Pontine tegmental cap dysplasia: a hindbrain malformation caused by defective neuronal migration.

scientific article

Proton MR Spectroscopy in Patients with Leigh Syndrome.

scientific article published on 24 June 2011

RADIOLOGY

Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts

scientific article

Rhombencephalosynapsis - isolated anomaly or complex malformation?

scientific article published on July 2012

SURF1 missense mutations promote a mild Leigh phenotype.

scientific article published on August 2009

Severe central and peripheral paraneoplastic demyelination associated with tumours of the ovaries

scientific article

Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients.

scientific article published in January 2009

Spinal cord compression in Maroteaux-Lamy syndrome: case report and review of the literature with effects of enzyme replacement therapy.

scientific article published on 21 December 2012

Spinal cord lesions in children and adolescents with multiple sclerosis - Magnetic resonance imaging.

scientific article published on 14 December 2016

Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas.

scientific article published in January 2011

Surgical treatment of subependymal giant cell astrocytoma in tuberous sclerosis complex patients.

scientific article published on 10 December 2013

Teratoma or enterogenous cyst? The histopathological and clinical dilemma in co-existing occult neural tube dysraphism

scientific article published in January 2006

Transalar sphenoidal encephalocele. A case report

scientific article published on 30 April 2007

Trilateral retinoblastoma: an institutional experience and review of the literature

scientific article published on 31 July 2009

Usefulness of magnetic resonance imaging with SWI sequence (susceptibility-weighted imaging) in diagnosing cerebral hemosiderosis - case report

scientific article published on July 2010

Virginal breast hypertrophy in a patient with Beckwith-Wiedemann syndrome.

scientific article published on 26 January 2018

[Can proton magnetic resonance spectroscopy be of any value as a prognostic factor in medulloblastoma?]

scientific article published on 01 April 2003

[Children with neurofibroma type 1 treated in the Children's Memorial Health Institute]

scientific article published on 01 July 2006

[Developmental anomalies of the nervous system in ultrasonography and CT images].

scientific article published in September 1986

[The value of the proton magnetic resonance spectroscopy (HMRS) of white matter injury in children treated with chemo- and/or radiotherapy. Preliminary report]

scientific article published on 01 April 2003

[Treatment results of children and adolescents with brain stem tumours. Own experiences]

scientific article published on 01 July 2006

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