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Tomasz Kmiec

26

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Cardiac symptoms in cases of neurodegeneration associated with mutations in C19orf12

2020 Parkinsonism & Related Disorders
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Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities.

2020 Annals of Neurology
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Palliative care in 9 children with neurodegeneration with brain iron accumulation

2019 Neurological Sciences
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Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study

2019 Lancet Neurology
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Subthalamic and pallidal oscillatory activity in patients with Neurodegeneration with Brain Iron Accumulation type I (NBIA-I)

2019 Clinical Neurophysiology
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Pallidal or Subthalamic Deep Brain Stimulation for the Generalized Dystonia Treatment

2016 Journal of Neurology and Neurophysiology
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Eye of the tiger sign in a 23 year patient with mitochondrial membrane protein associated neurodegeneration

2015 Journal of the Neurological Sciences
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Mitochondrial protein associated neurodegeneration – Case report

2014 Neurologia I Neurochirurgia Polska
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Status dystonicus due to internal pulse generator depletion in a patient with primary generalized dystonia

2014 Movement Disorders
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Zalecenia leczenia żywieniowego dzieci z przewlekłymi chorobami układu nerwowego

2012
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