Acute Autonomic Neuropathy as a Rare Cause of Severe Arterial Hypertension in a Child

by Halszka Kamińska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Bożena Werner
Published 2021-06-01

Determinants of Quality of Life in Myasthenia Gravis Patients

by Piotr Szczudlik, Ewa Sobieszczuk, Beata Szyluk, Marta Lipowska, Justyna Kubiszewska, Anna Kostera-Pruszczyk
Published 2020-09-01

Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy

by Anna Lusakowska, Maria Jedrzejowska, Anna Kaminska, Katarzyna Janiszewska, Przemysław Grochowski, Janusz Zimowski, Janusz Sierdzinski, Anna Kostera-Pruszczyk
Published 2021-03-01

Progressive External Ophthalmoplegia in Polish Patients—From Clinical Evaluation to Genetic Confirmation

by Biruta Kierdaszuk, Magdalena Kaliszewska, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Katarzyna Tońska, Anna M. Kamińska, Anna Kostera-Pruszczyk
Published 2021-12-01

Pediatric CIDP: Diagnosis and Management. A Single-Center Experience

by Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Małgorzata Łukawska, Marta Lipowska, Dorota Hoffman-Zacharska, Beata Olchowik, Magdalena Figlerowicz, Karolina Kanabus, Edyta Rosiak
Published 2021-07-01

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

by Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G. Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E. Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G. MacArthur, Volker Straub
Published 2017-11-01

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb...

by Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández-Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub
Published 2018-07-01

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

by Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jordi Díaz-Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller
Published 2019-08-01

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

by Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller
Published 2018-09-01