Palliative care in 9 children with neurodegeneration with brain iron accumulation

por Dangel, Tomasz, Kmieć, Tomasz, Januszaniec, Artur, Ważny, Barbara
Publicado 2019

Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration

por Skowronska, Marta, Kmiec, Tomasz, Czlonkowska, Anna, Kurkowska-Jastrzębska, Iwona
Publicado 2017

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

por Golanska, Ewa, Gajos, Agata, Sieruta, Monika, Szybka, Malgorzata, Rudzinska, Monika, Ochudlo, Stanislaw, Kmiec, Tomasz, Liberski, Pawel P., Bogucki, Andrzej
Publicado 2015

Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease

por Purzycka-Olewiecka, Joanna Karolina, Hetmańczyk-Sawicka, Katarzyna, Kmieć, Tomasz, Szczęśniak, Dominika, Trubicka, Joanna, Krawczyński, Maciej, Pronicki, Maciej, Ługowska, Agnieszka
Publicado 2022

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia

por Dubey, Abhishek Anil, Krygier, Magdalena, Szulc, Natalia A, Rutkowska, Karolina, Kosińska, Joanna, Pollak, Agnieszka, Rydzanicz, Małgorzata, Kmieć, Tomasz, Mazurkiewicz-Bełdzińska, Maria, Pokrzywa, Wojciech, Płoski, Rafał
Publicado 2022

Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases

por Ługowska, Agnieszka, Baydakova, Galina, Ilyushkina, Alex, Zakharova, Ekaterina, Mierzewska, Hanna, Szymańska, Krystyna, Wierzba, Jolanta, Kubalska, Jolanta, Graban, Ałła, Kmieć, Tomasz, Perkowska-Sumiła, Barbara, Tylki-Szymańska, Anna, Bednarska-Makaruk, Małgorzata
Publicado 2021

Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro

por Zanuttigh, Enrica, Derderian, Kevork, Güra, Miriam A., Geerlof, Arie, Di Meo, Ivano, Cavestro, Chiara, Hempfling, Stefan, Ortiz-Collazos, Stephanie, Mauthe, Mario, Kmieć, Tomasz, Cammarota, Eugenia, Panzeri, Maria Carla, Klopstock, Thomas, Sattler, Michael, Winkelmann, Juliane, Messias, Ana C., Iuso, Arcangela
Publicado 2023

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration

por 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
Publicado 2020