Lista de obras -

A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy

artículo científico publicado en 2013

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

scientific article published on 12 March 2020

Adenylosuccinate lyase deficiency: the first identified polish patient

artículo científico publicado en 2007

Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children.

artículo científico publicado en 2016

Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution

artículo científico publicado en 2016

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

artículo científico publicado en 2012

Basal ganglia lesions in children and adults

artículo científico publicado en 2013

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

artículo científico publicado en 2018

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

artículo científico publicado en 2016

Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.

artículo científico publicado en 2008

Clinical and genetic study of juvenile form of Huntington's disease

artículo científico publicado en 2002

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

artículo científico publicado en 2018

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene

artículo científico publicado en 2008

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

artículo científico publicado en 2012

Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2

artículo científico publicado en 2010

Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.

artículo científico publicado en 2008

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

artículo científico publicado en 2016

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

artículo científico publicado en 2018

Diffuse hypomyelination is not obligate for POLR3-related disorders

artículo científico publicado en 2016

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

artículo científico publicado en 2002

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

artículo científico publicado en 2011

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

scientific article published on 01 October 2020

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

artículo científico publicado en 2009

Infantile mitochondrial leucodystrophy - a case report

artículo científico publicado en 2005

Intrathecal Infusion of Autologous Adipose-Derived Regenerative Cells in Autoimmune Refractory Epilepsy: Evaluation of Safety and Efficacy

artículo científico publicado en 2020

Is leucodystrophy really a feature of PIGT-CDG?

artículo científico publicado en 2020

Juvenile form of Alexander's disease - a case confirmed by detection of mutation in GFAP gene

artículo científico publicado en 2007

Kufs' disease: diagnostic difficulties in the examination of extracerebral biopsies.

artículo científico publicado en 2009

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

artículo científico publicado en 2011

Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.

artículo científico publicado en 2006

MELAS--mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome--two cases confirmed by biochemical and molecular investigations. Differential diagnosis of stroke causes

artículo científico publicado en 2002

MRI of a family with leukoencephalypathy with vanishing white matter.

artículo científico publicado en 2005

Natural History of Vanishing White Matter

artículo científico publicado en 2018

Neurodegenerative disease in infants with multiple congenital malformations--report of two cases

artículo científico publicado en 2004

Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.

artículo científico publicado en 2012

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

artículo científico publicado en 2016

Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.

artículo científico publicado en 2004

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

artículo científico publicado en 2005

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

artículo científico publicado en 2009

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

artículo científico publicado en 2013

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

artículo científico publicado en 2016

Stenogyria - not only in Chiari II malformation

artículo científico publicado en 2014

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease

Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls

artículo científico publicado en 2007

Ultrastructural picture of blood vessels in muscle and skin biopsy in CADASIL

scientific article published on 01 January 2006

Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects

artículo científico publicado en 2020

Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.

artículo científico publicado en 2016

Lista de obras de

A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Adenylosuccinate lyase deficiency: the first identified polish patient

Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children.

Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

Basal ganglia lesions in children and adults

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.

Clinical and genetic study of juvenile form of Huntington's disease

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

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2

Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.

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

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

Diffuse hypomyelination is not obligate for POLR3-related disorders

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

Infantile mitochondrial leucodystrophy - a case report

Intrathecal Infusion of Autologous Adipose-Derived Regenerative Cells in Autoimmune Refractory Epilepsy: Evaluation of Safety and Efficacy

Is leucodystrophy really a feature of PIGT-CDG?

Juvenile form of Alexander's disease - a case confirmed by detection of mutation in GFAP gene

Kufs' disease: diagnostic difficulties in the examination of extracerebral biopsies.

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

Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.

MELAS--mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome--two cases confirmed by biochemical and molecular investigations. Differential diagnosis of stroke causes

MRI of a family with leukoencephalypathy with vanishing white matter.

Natural History of Vanishing White Matter

Neurodegenerative disease in infants with multiple congenital malformations--report of two cases

Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

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

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

Stenogyria - not only in Chiari II malformation

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease

Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls

Ultrastructural picture of blood vessels in muscle and skin biopsy in CADASIL

Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects

Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.