List of works - Tomasz Kmieć

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

scientific article

An international registry for neurodegeneration with brain iron accumulation

scientific article published on 17 September 2012

Analysis of neurological complications in children transplanted due to fulminant liver failure

scientific article published on 01 January 2006

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

Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.

scientific article published on 20 May 2013

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

scientific article published on 4 January 2011

Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).

scientific article published on 26 December 2016

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

scientific article published in March 2018

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

scientific article published on 21 March 2017

Eye of the tiger sign in a 23 year patient with mitochondrial membrane protein associated neurodegeneration.

scientific article published on 20 March 2015

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

scientific article published in February 2006

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

scientific article published on 2 November 2010

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

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

Long-term outcomes of bilateral pallidal stimulation for primary generalised dystonia

scientific article published on 30 August 2014

MRI of a family with leukoencephalypathy with vanishing white matter.

scientific article published on 24 May 2005

Mitochondrial protein associated neurodegeneration - case report

scientific article published on 23 January 2014

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

scientific article

Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype

scientific article published on 14 December 2012

Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation

scientific article published on 12 March 2008

Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.

scientific article

Retinal and optic nerve abnormalities in neurodegeneration associated with mutations in C19orf12 (MPAN).

scientific article published on 23 September 2016

SURF1 missense mutations promote a mild Leigh phenotype.

scientific article published on August 2009

Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions

scientific article published on 18 June 2015

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

scientific article published on 15 December 2013

Status dystonicus due to internal pulse generator depletion in a patient with primary generalized dystonia.

scientific article published on 18 July 2013

Subthalamic and pallidal oscillatory activity in patients with Neurodegeneration with Brain Iron Accumulation type I (NBIA-I)

scientific article published on 25 January 2019

Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration.

scientific article published on 28 March 2017

Transcranial sonography in mitochondrial membrane protein-associated neurodegeneration.

scientific article published on 17 July 2013

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

scientific article

List of works by Tomasz Kmieć

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

An international registry for neurodegeneration with brain iron accumulation

Analysis of neurological complications in children transplanted due to fulminant liver failure

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

Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.

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

Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).

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

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

Eye of the tiger sign in a 23 year patient with mitochondrial membrane protein associated neurodegeneration.

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

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

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

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

Long-term outcomes of bilateral pallidal stimulation for primary generalised dystonia

MRI of a family with leukoencephalypathy with vanishing white matter.

Mitochondrial protein associated neurodegeneration - case report

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

Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype

Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation

Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.

Retinal and optic nerve abnormalities in neurodegeneration associated with mutations in C19orf12 (MPAN).

SURF1 missense mutations promote a mild Leigh phenotype.

Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions

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

Status dystonicus due to internal pulse generator depletion in a patient with primary generalized dystonia.

Subthalamic and pallidal oscillatory activity in patients with Neurodegeneration with Brain Iron Accumulation type I (NBIA-I)

Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration.

Transcranial sonography in mitochondrial membrane protein-associated neurodegeneration.

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1