Tomasz Kmieć

állampolgárság: Lengyelország

beszélt nyelvek: lengyel

foglalkozás: kutató, orvos, neurológus

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Articles 30

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Title

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2019-01-25

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

Tomasz Kmieć, Tomasz Mandat, Henryk Koziara, Rafał Rola
2018-03-01

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

Adriana Mika, Rafał Płoski, Anna Walczak, Agnieszka Pollak, Anna Kutkowska-Kazmierczak, Andrzej Dziembowski, Małgorzata Rydzanicz, Elżbieta Jurkiewicz, Tomasz Kmieć, Tomasz Sledzinski, Teresa J Stradomska, Wieslaw Nowak, Cezary Kowalewski, Piotr Gasperowicz, Ewa Obersztyn, Lech Korniszewski, Ewa Jankowska-Steifer
2017-03-28

Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration

Marta Skowronska, Tomasz Kmieć, Anna Członkowska, Iwona Kurkowska-Jastrzębska
2017-03-21

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

Tomasz Kmieć, Elżbieta Jurkiewicz, Iwona Kurkowska-Jastrzębska, Anna Członkowska
2016-09-23

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

Tomasz Kmieć, Anna Członkowska, Ewa Langwińska-Wośko
2016-12-26

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

Tomasz Kmieć
2015-06-18

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

Ewa Golanska, Tomasz Kmieć, Paweł P. Liberski
2015-03-20

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

Tomasz Kmieć, Iwona Kurkowska-Jastrzębska, Anna Członkowska
2014-08-30

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

Tomasz Kmieć, Krzysztof Szczałuba
2014-01-23

Mitochondrial protein associated neurodegeneration - case report.

Tomasz Kmieć, Marta Skowrońska
2013-07-18

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

Tomasz Kmieć, Jarosław Sławek
2013-07-17

Transcranial sonography in mitochondrial membrane protein-associated neurodegeneration

Uwe Walter, Tomasz Kmieć, Anna Członkowska
2013-12-15

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

Hanna Mierzewska, Ewa Pronicka, Maciej Pronicki, Tomasz Kmieć, Marek Migdal, Irena Hausmanowa-Petrusewicz, Monika Gos, Ewa Obersztyn
2013-04-06

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.

Elżbieta Jurkiewicz, Tomasz Kmieć, Sergiusz Jóźwiak, Katarzyna Kotulska
2013-05-20

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

Agnieszka Ługowska, Tomasz Kmieć, Anna Tylki-Szymańska, Małgorzata Bednarska-Makaruk
2012-09-17

An international registry for neurodegeneration with brain iron accumulation

Florian Kohlmayer, Tomasz Kmieć
2012-12-14

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

Jarosław Poznański, Tomasz Kmieć, Dorota Hoffman-Zacharska
2011-10-01

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

Valeria Tiranti, Thomas Meitinger, Claudia Trenkwalder, Konrad Oexle, Sabrina Dusi, Elżbieta Jurkiewicz, Juliane Winkelmann, Holger Prokisch, Sergiusz Jóźwiak, Gerd Schmitz, Tomasz Kmieć, Małgorzata Krajewska-Walasek, Thomas Gasser, Tobias B Haack, Arcangela Iuso, Thomas Klopstock, Tim M Strom, Katharina Heim, Matthias Elstner, Maja Hempel
2011-01-04

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

Magdalena Kaczorowska, Elżbieta Jurkiewicz, Małgorzata Syczewska, Katarzyna Kotulska, Tomasz Kmieć, Dorota Dunin-Wasowicz, Sergiusz Jóźwiak, Dorota Domańska-Pakieła
2011-04-19

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

Sergiusz Jóźwiak, Katarzyna Kotulska, Małgorzata Syczewska, Tomasz Kmieć, Julita Borkowska, Elżbieta Jurkiewicz, Joanna Szymkiewicz-Dangel, Maria Borszewska-Kornacka, Maria Respondek-Liberska, Dorota Domańska-Pakieła, Wanda Kawalec
2010-11-02

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

Elżbieta Jurkiewicz, Tomasz Kmieć, Sergiusz Jóźwiak, Krystyna Domanska-Janik, Barbara Lukomska, Mieczyslaw Litwin, Jerzy Walecki, Aleksandra Habich, Katarzyna Kotulska, Dariusz Boruczkowski, Anna Sarnowska
2009-08-01

SURF1 missense mutations promote a mild Leigh phenotype

Kateřina Veselá, Jiri Zeman, Dorota Piekutowska-Abramczuk, Martin Magner, Maciej Pronicki, Jolanta Sykut-Cegielska, Tomasz Kmieć, Elżbieta Jurkiewicz, Małgorzata Krajewska-Walasek, Ewa Pronicka
2008-10-14

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

Magdalena Kaczorowska, Tomasz Kmieć, Sergiusz Jóźwiak, Marek Kaciński
2008-03-12

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

Tomasz Kmieć, Anna Turska-Kmieć, Sergiusz Jóźwiak, Irena Hausmanowa-Petrusewicz, Klaudia Nestorowicz, Joanna Rekawek
2007-10-01

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

Maciej Pronicki, Dorota Piekutowska-Abramczuk, Agnieszka Karkucinska-Wieckowska, Wiesława Grajkowska, Tomasz Kmieć, Jolanta Sykut-Cegielska
2006-02-01

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

Thomas Meitinger, Barbara Garavaglia, Holger Prokisch, Tomasz Kmieć, Thomas Klopstock, Markus Schuelke, Nardo Nardocci, Giovanna Zorzi
2006-01-01

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

Paweł Nachulewicz, Piotr Kaliciński, Tomasz Kmieć, Joanna Teisseyre
2005-05-01

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

Elżbieta Jurkiewicz, Tomasz Kmieć, Sergiusz Jóźwiak, Mieczyslaw Litwin
2005-05-24

MRI of a family with leukoencephalypathy with vanishing white matter

Elżbieta Jurkiewicz, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Tomasz Kmieć, Ewa Pronicka, Gert C Scheper
1997-03-01

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

Antonio Federico, Tomasz Kmieć, Guy A. Rouleau

Human - wd:Q58878879

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