Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration

Authors: Klopstock, Thomas, Videnovic, Aleksandar, Bischoff, Almut Turid, Bonnet, Cecilia, Cif, Laura, Comella, Cynthia, Correa‐Vela, Marta, Escolar, Maria L., Fraser, Jamie L., Gonzalez, Victoria, Hermanowicz, Neal, Jech, Robert, Jinnah, Hyder A., Kmiec, Tomasz, Lang, Anthony, Martí, Maria J., Mercimek‐Andrews, Saadet, Monduy, Migvis, Nimmo, Graeme A.M., Perez‐Dueñas, Belen, Pfeiffer, Helle Cecilie Viekilde, Planellas, Lluis, Roze, Emmanuel, Thakur, Nivedita, Tochen, Laura, Vanegas‐Arroyave, Nora, Zorzi, Giovanna, Burns, Colleen, Greblikas, Feriandas

Source: Movement disorders. 36(6):1342-1352

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122940724.0x000001&indx=1&recIds=ETOCvdc_100122940724.0x000001

Deep brain stimulation hardware-related complications and their management: A single-center retrospective analysis of 65 patients with various dystonic conditions

Authors: Sobstyl, Michał, Stapińska-Syniec, Angelika, Giziński, Jakub, Kmieć, Tomasz, Kupryjaniuk, Anna

Source: In Journal of the Neurological Sciences 15 December 2019 407

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

Authors: Klopstock, Thomas ^*, Tricta, Fernando, Neumayr, Lynne, Karin, Ivan, Zorzi, Giovanna, Fradette, Caroline, Kmieć, Tomasz, Büchner, Boriana, Steele, Hannah E, Horvath, Rita, Chinnery, Patrick F, Basu, Anna, Küpper, Clemens, Neuhofer, Christiane, Kálmán, Bernadette, Dušek, Petr, Yapici, Zuhal, Wilson, Ian, Zhao, Feng, Zibordi, Federica, Nardocci, Nardo, Aguilar, Christine, Hayflick, Susan J, Spino, Michael, Blamire, Andrew M, Hogarth, Penelope, Vichinsky, Elliott

Source: In The Lancet Neurology July 2019 18(7):631-642

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

Authors: Huebl, Julius, Poshtiban, Anahita, Brücke, Christof, Siegert, Sandy, Bock, Antje, Koziara, Henryk, Kmiec, Tomasz, Rola, Rafał, Mandat, Tomasz, Kühn, Andrea A.

Source: In Clinical Neurophysiology April 2019 130(4):469-473

Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12?

Authors: Skowronska, Marta, Buksinska-Lisik, Malgorzata, Kmiec, Tomasz, Litwin, Tomasz, Kurkowska-Jastrzębska, Iwona, Czlonkowska, Anna

Source: Parkinsonism & related disorders. 80:15-18

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100135921152.0x000001&indx=1&recIds=ETOCvdc_100135921152.0x000001

Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein–associated neurodegeneration

Authors: Dusek, Petr, Mekle, Ralf, Skowronska, Marta, Acosta‐Cabronero, Julio, Huelnhagen, Till, Robinson, Simon Daniel, Schubert, Florian, Deschauer, Marcus, Els, Antje, Ittermann, Bernd, Schottmann, Gudrun, Madai, Vince I., Paul, Friedemann, Klopstock, Thomas, Kmiec, Tomasz, Niendorf, Thoralf, Wuerfel, Jens, Schneider, Susanne A.

Source: Movement disorders. 35(1):142-150

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100099797952.0x000001&indx=1&recIds=ETOCvdc_100099797952.0x000001

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

Authors: Skowronska, Marta, Kmiec, Tomasz, Jurkiewicz, Elzbieta, Malczyk, Katarzyna, Kurkowska-Jastrzębska, Iwona, Czlonkowska, Anna

Source: In Parkinsonism and Related Disorders June 2017 39:71-76

Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.

Authors: Iankova, Vassilena¹, Sparber, Peter², Rohani, Mohammad³, Dusek, Petr⁴, Büchner, Boriana¹, Karin, Ivan¹, Schneider, Susanne A¹, Gorriz, Juan M^5,6, Kmiec, Tomasz⁷, Klopstock, Thomas^1,8,9, Thomas.Klopstock@med.uni-muenchen.de

Source: Brain: A Journal of Neurology; Apr2024, Vol. 147 Issue 4, p1389-1398, 10p

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

Authors: Hogarth, Penelope, Kurian, Manju A., Gregory, Allison, Csányi, Barbara, Zagustin, Tamara, Kmiec, Tomasz, Wood, Patricia, Klucken, Angelika, Scalise, Natale, Sofia, Francesca, Klopstock, Thomas, Zorzi, Giovanna, Nardocci, Nardo, Hayflick, Susan J.

Source: In Molecular Genetics and Metabolism March 2017 120(3):278-287

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

Authors: Langwinska-Wosko, Ewa, Skowronska, Marta, Kmiec, Tomasz, Czlonkowska, Anna

Source: In Journal of the Neurological Sciences 15 November 2016 370:237-240

Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration

Authors: Skowronska, Marta, Kmiec, Tomasz, Czlonkowska, Anna, Kurkowska-Jastrzębska, Iwona

Source: Clinical neuroradiology. 28(3):385-392

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125295166.0x000001&indx=1&recIds=ETOCvdc_100125295166.0x000001

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

Authors: Sobstyl, Michał, Kmieć, Tomasz, Ząbek, Mirosław, Szczałuba, Krzysztof, Mossakowski, Zbigniew

Source: In Clinical Neurology and Neurosurgery November 2014 126:82-87

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

Authors: Jędrzejowska, Maria, Madej-Pilarczyk, Agnieszka, Fidziańska, Anna, Mierzewska, Hanna, Pronicka, Ewa, Obersztyn, Ewa, Gos, Monika, Pronicki, Maciej, Kmieć, Tomasz, Migdał, Marek, Mierzewska-Schmidt, Magdalena, Walczak-Wojtkowska, Iwona, Konopka, Elżbieta, Hausmanowa-Petrusewicz, Irena

Source: In European Journal of Paediatric Neurology March 2014 18(2):183-192

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

Authors: Kotulska, Katarzyna, Chmielewski, Dariusz, Borkowska, Julita, Jurkiewicz, Elżbieta, Kuczyński, Dariusz, Kmieć, Tomasz, Łojszczyk, Barbara, Dunin-Wąsowicz, Dorota, Jóźwiak, Sergiusz

Source: In European Journal of Paediatric Neurology September 2013 17(5):479-485

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

Authors: Jóźwiak, Sergiusz, Kotulska, Katarzyna, Domańska-Pakieła, Dorota, Łojszczyk, Barbara, Syczewska, Małgorzata, Chmielewski, Dariusz, Dunin-Wąsowicz, Dorota, Kmieć, Tomasz, Szymkiewicz-Dangel, Joanna, Kornacka, Maria, Kawalec, Wanda, Kuczyński, Dariusz, Borkowska, Julita, Tomaszek, Katarzyna, Jurkiewicz, Elżbieta, Respondek-Liberska, Maria

Source: In European Journal of Paediatric Neurology 2011 15(5):424-431

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

Authors: 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, Tiranti, Valeria, Kretzschmar, Hans, Schmitz, Gerd, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger

Source: In The American Journal of Human Genetics 2011 89(4):543-550

Deficyt liazy adenylobursztynianowej – diagnostyka i charakterystyka kliniczna 7 polskich pacjentów

Alternate Title: Adenylsuccinate lyase deficiency – diagnostics and clinical characterization of 7 Polish patients (English)

Authors: Jurecka, Agnieszka, Tylki-Szymańska, Anna, Bogdańska, Anna, Kmieć, Tomasz, Mierzewska, Hanna, Pohorecka, Monika, Słomińska, Ewa, Smoleński, Ryszard, Sykut-Cegielska, Jolanta, Taybert, Joanna, Pronicka, Ewa

Source: In Pediatria Polska 2007 82(7):526-532

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Transcranial sonography in mitochondrial membrane protein-associated neurodegeneration

Authors: Skowronska, Marta, Walter, Uwe, Kmiec, Tomasz, Czlonkowska, Anna

Source: In Parkinsonism and Related Disorders November 2013 19(11):1061-1063