Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Rare neurological diseases"'
Autor:
Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J. Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas Nadke, Alma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B. Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients with rare neurological
Externí odkaz:
https://doaj.org/article/dae4649b5a064957935d72b149d0ec67
Autor:
Sara Cannizzo, Vinciane Quoidbach, Paola Giunti, Wolfgang Oertel, Gregory Pastores, Maja Relja, Giuseppe Turchetti
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract One of the most relevant challenges for healthcare providers during the COVID– 19 pandemic has been assuring the continuity of care to patients with complex health needs such as people living with rare diseases (RDs). The COVID–19 pandem
Externí odkaz:
https://doaj.org/article/6eeae50920484079bba0bb14a87b1646
Autor:
Chris-Tiann Roberts, Khatereh Saei Arezoumand, Ashraf Kadar Shahib, James R. Davie, Mojgan Rastegar
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
Rare neurological diseases include a vast group of heterogenous syndromes with primary impairment(s) in the peripheral and/or central nervous systems. Such rare disorders may have overlapping phenotypes, despite their distinct genetic etiology. One u
Externí odkaz:
https://doaj.org/article/9b65840063194d9e8904ebbd1d768b7a
Autor:
Elise Brimble, Kathryn G. Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R. Z. Ruzhnikov, Xilma R. Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson, the FOXG1 Research Foundation
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background We refine the clinical spectrum of FOXG1 syndrome and expand genotype–phenotype correlations through evaluation of 122 individuals enrolled in an international patient registry. Methods The FOXG1 syndrome online patient registry
Externí odkaz:
https://doaj.org/article/3b64a88bf2e4498fa667eb61c8835c14
Akademický článek
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Autor:
LIU Mingsheng, CUI Liying
Publikováno v:
罕见病研究, Vol 1, Iss 2, Pp 97-100 (2022)
Rare neurological diseases contain of a great variety of different disease and difficult to diagnose and cure. In the past years, many drugs are approved for treatment of the rare diseases, bringing hope to patients. However, these drugs are usually
Externí odkaz:
https://doaj.org/article/675d5f49b94443698c66e3943442f6e8
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
ObjectiveTo clarify the current state of methodology of clinical trials for rare neurological diseases in children, and to provide a basis for the further optimization of the trial design.MethodsData of clinical trials for the rare neurological disea
Externí odkaz:
https://doaj.org/article/00e5e06276804550946b272df5fe7daf
Autor:
Styliani-Aggeliki Sintila, Marina Boziki, Christos Bakirtzis, Thomai Stardeli, Nikoletta Smyrni, Ioannis Nikolaidis, Dimitrios Parissis, Theodora Afrantou, Theodore Karapanayiotides, Ioanna Koutroulou, Virginia Giantzi, Paschalis Theotokis, Evangelia Kesidou, Georgia Xiromerisiou, Efthimios Dardiotis, Panagiotis Ioannidis, Nikolaos Grigoriadis
Publikováno v:
Medicina, Vol 59, Iss 2, p 266 (2023)
Background and Objectives: Rare diseases (RDs) are life-threatening or chronically impairing conditions that affect about 6% of the world’s population. RDs are often called ‘orphan’ diseases, since people suffering from them attract little supp
Externí odkaz:
https://doaj.org/article/9257866a752d4e268b3a17be28d8176d
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Carola Reinhard, Anne-Catherine Bachoud-Lévi, Tobias Bäumer, Enrico Bertini, Alicia Brunelle, Annemieke I. Buizer, Antonio Federico, Thomas Gasser, Samuel Groeschel, Sanja Hermanns, Thomas Klockgether, Ingeborg Krägeloh-Mann, G. Bernhard Landwehrmeyer, Isabelle Leber, Alfons Macaya, Caterina Mariotti, Wassilios G. Meissner, Maria Judit Molnar, Jorik Nonnekes, Juan Dario Ortigoza Escobar, Belen Pérez Dueñas, Lori Renna Linton, Ludger Schöls, Rebecca Schuele, Marina A. J. Tijssen, Rik Vandenberghe, Anna Volkmer, Nicole I. Wolf, Holm Graessner
Publikováno v:
Frontiers in Neurology, Vol 11 (2021)
While rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. In 2017, 24 European R
Externí odkaz:
https://doaj.org/article/d626e4ca4eb942849d4ce495989090a2