Results 31 to 40 of about 3,489,004 (303)

Patient involvement in rare diseases research: a scoping review of the literature and mixed method evaluation of Norwegian researchers’ experiences and perceptions

Orphanet Journal of Rare Diseases, 2022
Background Patients’ involvement (PI) in research is recognized as a valuable strategy for increasing the quality, developing more targeted research and to speed up more innovative research dissemination.
Gry Velvin, Thale Hartman, Trine Bathen
doaj   +1 more source

Dynamic interaction of genetic risk factors and cocaine abuse in the background of Parkinsonism – a case report

BMC Neurology, 2019
Background Parkinsonism is a complex multifactorial neurodegenerative disorder, in which genetic and environmental risk factors may both play a role. Among environmental risk factors cocaine was earlier ambiguously linked to Parkinsonism.
Anett Illés, Péter Balicza, Viktor Molnár, Renáta Bencsik, István Szilvási, Maria Judit Molnar   +5 more
doaj   +1 more source

Rare inherited disorders of fibrinogen [PDF]

Haemophilia, 2008
Summary.  Fibrinogen, a hexameric glycoprotein encoded by three genes –FGA, FGB, FGG– clustered on chromosome 4q is involved in the final steps of coagulation as a precursor of fibrin monomers required for the formation of the haemostatic plug. Inherited disorders of fibrinogen abnormalities are rare and not as well clinically characterized as some ...
S S, Acharya, D M, Dimichele
openaire   +2 more sources

Knowledge and therapeutic gaps : a public health problem in the rare coagulation disorders population

, 2011
Rare coagulation disorders (RCDs) present a considerable and multifaceted public health risk. Although inherited RCDs affect a minor segment of any local healthcare delivery system, their global impact is major and highlight the challenges of delivering ...
J. M. Soucie, Clotting Disorders Working Group, UDC Rare Bleeding, D. M. Dimichele, the European Network Rare Bleeding Disorders Database, A. D. Shapiro, D. J. Aschman, F. Peyvandi, J. Michael Soucie, Flora Peyvandi, Diane J. Aschman, Donna M. DiMichele, Amy D. Shapiro   +12 more
core   +1 more source

Camptocormia in patients with multiple system atrophy at different disease durations: frequency and related factors

BMC Neurology, 2021
Background Camptocormia is common in patients with multiple system atrophy (MSA). The current study was aimed at assessing the frequency of camptocormia and its related factors in MSA patients with different disease durations.
Ling Yu Zhang, Bei Cao, Qian-Qian Wei, Ru Wei Ou, Bi Zhao, Jing Yang, Ying Wu, Hui Fang Shang   +7 more
doaj   +1 more source

Broadening the phenotype of the TWNK gene associated Perrault syndrome

BMC Medical Genetics, 2019
Background Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms.
Bálint Fekete, Klára Pentelényi, Gabor Rudas, Anikó Gál, Zoltán Grosz, Anett Illés, Jimoh Idris, Gabor Csukly, Andor Domonkos, Maria Judit Molnar   +9 more
doaj   +1 more source

Additional file 1 of Rare disorders have many faces: in silico characterization of rare disorder spectrum

, 2022
Additional file 1. This .pdf file contains supplementary figures and tables (Figures S1–S5, Tables S1, S4 and S5). Figure S1. Orphadata and related study flowchart. Figure S2. Methodology and related study flowchart. Figure S3.
Laura Arbour (11080293), Anna Lehman (3492815), Vladimir Avramović (11838168), Simona D. Frederiksen (4060678), Tatiana Maroilley (11696484), Maja Tarailo-Graovac (11838174)   +5 more
core   +1 more source

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases [PDF]

, 2018
Copy number variations (CNVs) are genomic structural variations (deletions, duplications, or translocations) that represent the 4.8–9.5% of human genome variation in healthy individuals. In some cases, CNVs can also lead to disease, being the etiology of
Corpas, M., Lapunzina, P., Rojano, E., Reyes-Palomares, A., Nevado, J., Rodríguez-López, R., Ranea, J.A.G., Sánchez-Jiménez, F., Bueno, A., Lapunzina, Pablo, Reyes-Palomares, Armando, Nevado, Julián, Sánchez-Jiménez, Francisca, Bueno, Anibal, Corpas, Manuel, Ranea, Juan A G, Rojano, Elena, Rodríguez-López, Rocío   +17 more
core   +1 more source

Management of Wilson disease across Europe: an international physician-oriented survey by the ERN-RARE Liver group

Orphanet Journal of Rare Diseases
Background Wilson disease (WD) is a rare disorder resulting in copper overload. Diagnosis and treatment are complex and highly specialized. We aimed to investigate the management of WD across Europe in line with the mission and framework of the European ...
Frederik Teicher Kirk, Karina Stubkjær Rewitz, Zoe Mariño, Eduardo Couchonnal, Nicolas Lanthier, Wiebke Papenthin, Marina Berenguer, Aurelia Poujois, Dominique Debray, Aftab Ala, Luis García-Villarreal, Tudor Lucian Pop, Gerald Denk, Piotr Socha, Thomas Damgaard Sandahl   +14 more
doaj   +1 more source

Quantification of early learning and movement sub-structure predictive of motor performance

Scientific Reports, 2021
Time-to-fall off an accelerating rotating rod (rotarod) is widely utilized to evaluate rodent motor performance. We reasoned that this simple outcome could be refined with additional measures explicit in the task (however inconspicuously) to examine what
Vikram Jakkamsetti, William Scudder, Gauri Kathote, Qian Ma, Gustavo Angulo, Aksharkumar Dobariya, Roger N. Rosenberg, Bruce Beutler, Juan M. Pascual   +8 more
doaj   +1 more source