Lista de obras - Tomasz Kmiec - Dominio Público Uruguay

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

artículo científico publicado en 2011

An international registry for neurodegeneration with brain iron accumulation

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

MRI of a family with leukoencephalypathy with vanishing white matter.

artículo científico publicado en 2005

Mitochondrial protein associated neurodegeneration - case report

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 2016

SURF1 missense mutations promote a mild Leigh phenotype.

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration.

artículo científico publicado en 2017

Transcranial sonography in mitochondrial membrane protein-associated neurodegeneration.

artículo científico publicado en 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

artículo científico publicado en 1997

Lista de obras de Tomasz Kmiec

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