Results 31 to 40 of about 3,349,140 (303)

Longitudinal evolution of motor and non-motor symptoms in early-stage multiple system atrophy: a 2-year prospective cohort study

BMC Medicine, 2022
Background The progression of motor and non-motor symptoms (NMS) and the sensitivity of each item of the Unified Multiple System Atrophy Rating Scale (UMSARS) to change remain unclear in Chinese patients with early-stage multiple system atrophy (MSA). We
Lingyu Zhang, Yanbing Hou, Bei Cao, Qianqian Wei, Ruwei Ou, Kuncheng Liu, Junyu Lin, Tianmi Yang, Yi Xiao, Yongping Chen, Wei Song, Bi Zhao, Huifang Shang   +12 more
doaj   +1 more source

Developing Methodology for the Creation of Clinical Practice Guidelines for Rare Diseases : A Report from RARE-Bestpractices [PDF]

, 2015
Date of Acceptance: 29/05/2015 The research leading to these results has received funding from the (FP7/2007–2013), under grant agreement n 305690 (RARE-Bestpractices project). The opinions, presented here reflect only the authors’ views.
RARE-Bestpractices Consortium
core   +1 more source

Diagnosis of rare bleeding disorders [PDF]

Haemophilia, 2020
AbstractRare bleeding disorders result in significant morbidity but are globally underdiagnosed. Advances in genomic testing and specialist laboratory assays have greatly increased the diagnostic armamentarium. This has resulted in the discovery of new genetic causes for rare diseases and a better understanding of the underlying molecular pathology.
Meijer, K., van Heerde, W.L., van Heerde, W.L., Gomez, K.   +3 more
openaire   +6 more sources

The improvement of motor symptoms in Huntington’s disease during cariprazine treatment

Orphanet Journal of Rare Diseases, 2023
Background Huntington’s disease (HD) is a progressive neurodegenerative disease, characterised by motor disturbances and non-motor (i.e., psychiatric) symptoms. Motor symptoms are the hallmark features of HD and take many forms.
Reka Csehi, Viktor Molnar, Mariann Fedor, Vivien Zsumbera, Agnes Palasti, Karoly Acsai, Zoltan Grosz, Gyorgy Nemeth, Maria Judit Molnar   +8 more
doaj   +1 more source

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes [PDF]

, 2013
De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes ...
Schellenberg, Gerard D., He, X, Liu, Li, Xin He, State, MW, Roeder, K, Gibbs, RA, Lim, ET, Elaine T Lim, Lim, Elaine, Schellenberg, Gerard, Sanders, SJ, Schellenberg, GD, Stephan J. Sanders (446495), Gerard D Schellenberg, He, Xin, James S. Sutcliffe (262611), Sanders, Stephan J., James S Sutcliffe, Stephan J Sanders, Gibbs, Richard A., Gerard D. Schellenberg (160086), Silvia De Rubeis (446496), State, Matthew W., Sanders, Stephan, Silvia De Rubeis, Sutcliffe, JS, Mark J Daly, Williams, Scott M., Xin He (48101), Bernie Devlin (228374), Buxbaum, Joseph D., Matthew W. State (446497), Devlin, B, Joseph D. Buxbaum (144578), Mark J. Daly (210204), Bernie Devlin, Liu, L, De Rubeis, Silvia, Roeder, Kathryn, Sutcliffe, James, Buxbaum, Joseph, Gibbs, Richard, Kathryn Roeder (228381), State, Matthew, Kathryn Roeder, Elaine T. Lim (171627), Richard A. Gibbs (94141), Joseph D Buxbaum, Daly, Mark J., Sutcliffe, James S., Daly, MJ, Buxbaum, JD, Matthew W State, Li Liu, De, S, Devlin, Bernie, Richard A Gibbs, Li Liu (75607), De Rubeis, S, Daly, Mark, Lim, Elaine T.   +61 more
core   +2 more sources

Rare single gene disorders: estimating baseline prevalence and outcomes worldwide. [PDF]

, 2018
As child mortality rates overall are decreasing, non-communicable conditions, such as genetic disorders, constitute an increasing proportion of child mortality, morbidity and disability. To date, policy and public health programmes have focused on common
Moorthie, Sowmiya, Gibbons, Stephen, Povey, Sue, ., Congenital Disorders Expert Group, Hamamy, Hanan, Darlison, Matthew, Bittles, Alan, Blencowe, Hannah, Modell, Bernadette, Petrou, Mary, Congenital Disorders Expert Group   +10 more
core   +3 more sources

Abnormal eye movements in spinocerebellar ataxia type 3

BMC Neurology, 2021
Background Abnormal eye movements are common in spinocerebellar ataxias Type 3 (SCA3). We conducted the research to explore the frequency of abnormal eye movements in Chinese patients with SCA3, to compare the demographic and clinical characteristics ...
Junyu Lin, Lingyu Zhang, Bei Cao, Qianqian Wei, Ruwei Ou, Yanbing Hou, Xinran Xu, Kuncheng Liu, Xiaojing Gu, Huifang Shang   +9 more
doaj   +1 more source

An easyguide to rare diseases in Ireland and consensus for action for government, the general public, media and political parties [PDF]

, 2020
The aims of this guide are to: • Explain what a rare disease is and how it is defined in health policy • Provide insights into living with a rare disease • Identify priorities patient advocacy groups would urge the Irish Government to include in the
IPPOSI, Health Research Charities Ireland, /, Rare Disease Ireland   +2 more
core  

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