Tomasz Kmiec
Warsaw, MZ 04730, Poland
Last Updated: 09/26/2026
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Found 28 publications
Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.
Journal: Brain : a journal of neurology
Published: June 02, 2023
Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.
Journal: Pharmaceutics
Published: November 25, 2022
Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease.
Journal: Metabolic brain disease
Published: October 21, 2022
A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia.
Journal: Human molecular genetics
Published: October 07, 2022
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.
Journal: Diagnostics (Basel, Switzerland)
Published: December 28, 2020
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 18, 2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Journal: Annals of neurology
Published: May 12, 2020
Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12?
Journal: Parkinsonism & related disorders
Published: April 06, 2020
Palliative care in 9 children with neurodegeneration with brain iron accumulation.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: June 04, 2019
Deep brain stimulation hardware-related complications and their management: A single-center retrospective analysis of 65 patients with various dystonic conditions.
Journal: Journal of the neurological sciences
Published: May 26, 2019
Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: February 26, 2019
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.
Journal: The Lancet. Neurology
Published: December 13, 2018
Last Updated: 09/26/2026