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

Ewa Golanska ; Agata Gajos ; Monika Sieruta ; Malgorzata Szybka ; Monika Rudzinska ; Stanislaw Ochudlo ; Tomasz Kmiec ; Pawel P Liberski ; Andrzej Bogucki

PloS one, 01 January 2015, Vol.10(6), p.e0129656 [Rivista Peer Reviewed]

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

Sobstyl, Michał ; Ząbek, Mirosław ; Kmieć, Tomasz ; Sławek, Jarosław ; Budohoski, Karol P.

Movement Disorders, February 2014, Vol.29(2), pp.188-189 [Rivista Peer Reviewed]

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

Skowronska, Marta ; Kmiec, Tomasz ; Kurkowska-Jastrzębska, Iwona ; Czlonkowska, Anna

Journal of the Neurological Sciences, 15 May 2015, Vol.352(1-2), pp.110-111 [Rivista Peer Reviewed]

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

Langwinska-Wosko, Ewa ; Skowronska, Marta ; Kmiec, Tomasz ; Czlonkowska, Anna

Journal of the Neurological Sciences, 15 November 2016, Vol.370, pp.237-240 [Rivista Peer Reviewed]

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Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Hartig, Monika b ; Iuso, Arcangela ; Haack, Tobias ; Kmiec, Tomasz ; Jurkiewicz, Elzbieta ; Heim, Katharina ; Roeber, Sigrun ; Tarabin, Victoria ; Dusi, Sabrina ; Krajewska-Walasek, Malgorzata ; Jozwiak, Sergiusz ; Hempel, Maja ; Winkelmann, Juliane ; Elstner, Matthias ; Oexle, Konrad ; Klopstock, Thomas ; Mueller-Felber, Wolfgang ; Gasser, Thomas ; Trenkwalder, Claudia

The American Journal of Human Genetics, 2011, Vol.89(4), pp.543-550 [Rivista Peer Reviewed]

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

Kaczorowska, Magdalena ; Jurkiewicz, Elżbieta ; Domańska-Pakieła, Dorota ; Syczewska, Małgorzata ; Lojszczyk, Barbara ; Chmielewski, Dariusz ; Kotulska, Katarzyna ; Kuczyński, Dariusz ; Kmieć, Tomasz ; Dunin-Wąsowicz, Dorota ; Kasprzyk-Obara, Jolanta ; Jóźwiak

Epilepsia, January 2011, Vol.52(1), pp.22-7 [Rivista Peer Reviewed]

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Transcranial sonography in mitochondrial membrane protein-associated neurodegeneration

Skowronska, Marta ; Walter, Uwe ; Kmiec, Tomasz ; Czlonkowska, Anna

Parkinsonism and Related Disorders, November 2013, Vol.19(11), pp.1061-1063 [Rivista Peer Reviewed]

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Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration

Skowronska, Marta ; Kmiec, Tomasz ; Czlonkowska, Anna ; Kurkowska-Jastrzębska, Iwona

Clinical Neuroradiology, 2018, Vol.28(3), pp.385-392 [Rivista Peer Reviewed]

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

Sobstyl, Michal ; Kmiec, Tomasz ; Zabek, Miroslaw ; Szczaluba, Krzysztof ; Mossakowski, Zbigniew

Clinical Neurology and Neurosurgery, 2014, Vol.126, p.82(6) [Rivista Peer Reviewed]

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

Hoffman-Zacharska, Dorota ; Kmieć, Tomasz ; Poznański, Jarosław ; Jurek, Marta ; Bal, Jerzy

Brain and Development, October 2013, Vol.35(9), pp.877-880 [Rivista Peer Reviewed]

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da questo autore/creatore:

  1. Kmiec, T
  2. Kmiec, Tomasz
  3. Kmiec, Z
  4. Kmieć, Tomasz
  5. Kmiec, Zbigniew

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