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Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

Folia neuropathologica, 2016-01, Vol.54 (1), p.59-65

2016

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

Clinical neurology and neurosurgery, 2020-09, Vol.196, p.106033-106033, Article 106033

2020

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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Journal of medical genetics, 2016-08, Vol.53 (8), p.511-522

2016

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The neuropathological findings of developmental and epileptic encephalopathy-43 (DEE43) and delineation of a the molecular spectrum of novel case

Seizure (London, England), 2021-12, Vol.93, p.75-80

2021

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Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts

Molecular syndromology, 2022-02, Vol.13 (2), p.132-138

2022

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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Genetics in medicine, 2023-01, Vol.25 (1), p.37-48

2023

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Autoimmune Neurological Disorder with Anti-Ma2/Ta Antibodies in a Pediatric Patient

The Israel Medical Association journal, 2018-10, Vol.20 (10), p.653-655

2018

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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

Journal of the neurological sciences, 2014-03, Vol.338 (1), p.214-217

2014

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

Stem cells international, 2020, Vol.2020, p.7104243-16

2020

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

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2012-10, Vol.159B (7), p.760-771

2012

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Evidence of the milder phenotypic spectrum of c. 1582G >A PIGT variant: Delineation based on seven novel Polish patients

Clinical genetics, 2020-11, Vol.98 (5), p.468-476

2020

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The system of values of paediatricians, paediatricians-in-training, and medical students

Pediatria polska, 2018, Vol.93 (6), p.444-450

2018

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Hypomyelination, hypogonadotropic hypogonadism, hypodontia – First Polish patient

Brain & development (Tokyo. 1979), 2010-08, Vol.32 (7), p.574-578

2010

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From focal epilepsy to Dravet syndrome – Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit

Neurologia i neurochirurgia polska, 2015-01, Vol.49 (4), p.258-266

2015

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Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients

Clinical genetics, 2020-11, Vol.98 (5), p.468-476

2020

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

Advances in Clinical Science, 2016, Vol.878, p.73-82

Pokorski, Mieczyslaw

2016

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

Brain & development (Tokyo. 1979), 2011-10, Vol.33 (9), p.713-717

2011

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Quality of life in childhood epilepsy with lateralized epileptogenic foci

BMC neurology, 2010-08, Vol.10 (1), p.69-69, Article 69

2010

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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

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2012-03, Vol.159B (2), p.236-242

2012

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Regression of cystic lesions on brain MRI in a child with hypoxic-ischemic encephalopathy treated with selective head cooling

Ginekologia polska, 2013-02, Vol.84 (2), p.151-156

2013

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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

American journal of human genetics, 2013-11, Vol.93 (5), p.967-975

2013

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Diagnostic implications of genetic copy number variation in epilepsy plus

Epilepsia (Copenhagen), 2019-04, Vol.60 (4), p.689-706

2019

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Comprehensive genomic analysis of patients with disorders of cerebral cortical development

European journal of human genetics : EJHG, 2018-08, Vol.26 (8), p.1121-1131

2018

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Patterns of the EEG records in children with West Syndrome

Przeglad lekarski, 2015, Vol.72 (11), p.694

2015

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Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

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

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

The neuropathological findings of developmental and epileptic encephalopathy-43 (DEE43) and delineation of a the molecular spectrum of novel case

Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Autoimmune Neurological Disorder with Anti-Ma2/Ta Antibodies in a Pediatric Patient

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

Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

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

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

Evidence of the milder phenotypic spectrum of c. 1582G >A PIGT variant: Delineation based on seven novel Polish patients

The system of values of paediatricians, paediatricians-in-training, and medical students

Hypomyelination, hypogonadotropic hypogonadism, hypodontia – First Polish patient

From focal epilepsy to Dravet syndrome – Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit

Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients

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

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

Quality of life in childhood epilepsy with lateralized epileptogenic foci

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

Regression of cystic lesions on brain MRI in a child with hypoxic-ischemic encephalopathy treated with selective head cooling

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Diagnostic implications of genetic copy number variation in epilepsy plus

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

Patterns of the EEG records in children with West Syndrome

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