Results 141 to 150 of about 7,188,262 (255)

Community Counts : The HTC Population Profile [through September 30th, 2016]

The HTC Population Profile is a set of twelve data items collected on patients with bleeding disorders or venous thromboembolism. Updated data tables describing patient characteristics from the HTC Population Profile through September 30th, 2016 are ...

core  

Disease-specific heterogeneity of C-reactive protein across 21 hematologic disorders reflects divergent inflammatory and hematopoietic phenotypes. [PDF]

Front Immunol
Guo H, Zhou J, Wang X, Wang D, Sun L.
europepmc   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Community Counts : The HTC Population Profile [through June 30th, 2016]

The HTC Population Profile is a set of twelve data items collected on patients with bleeding disorders or venous thromboembolism. Updated data tables describing patient characteristics from the HTC Population Profile through June 30th, 2016 are available

core  

Metabolic and Inflammatory Adverse Drug Reactions Associated with Amlodipine: A Descriptive and Disproportionality Analysis of EudraVigilance Reports. [PDF]

Pharmaceuticals (Basel)
Solomon CC, Butuca A, Frum A, Dobrea CM, Morgovan C, Palade NA, Pintea AL, Dădârlat DA, Ghibu S, Batar F, Tilinca MC, Gligor FG.   +11 more
europepmc   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Mitochondrial Function-Related Genes in Sleep Disorders: A Multi-Omics Mendelian Randomization Study. [PDF]

J Mol Neurosci
Xu J, Zhang Z, Yu L, Feng Y.
europepmc   +1 more source

Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay, Merve Alaylioglu, Erdi Sahin, Sanem Sultan Yoruk Oner, Gulce Iskan, Gulce Cosku Yilmaz Cakan, Gozde Kizilates‐Evin, Emre Hari, Elif Kurt, Erdinc Dursun, Basar Bilgic, Hasmet Hanagasi, Hakan Gurvit, Tamer Demiralp, Duygu Gezen‐Ak, Bedia Samanci   +15 more
wiley   +1 more source

Community Counts : The HTC Population Profile [through September 30, 2014]

The HTC Population Profile is a set of twelve data items collected on patients with bleeding disorders or venous thromboembolism. Updated data tables describing patient characteristics from the HTC Population Profile through through September 30, 2014 ...

core  

Evaluation of Dried Plasma Spot‐Based Quantification of Glial Fibrillary Acidic Protein as a Disease‐Associated Biomarker in Neuromyelitis Optica Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the diagnostic accuracy of glial fibrillary acidic protein (GFAP) measured in dried plasma spots versus conventional plasma‐ and serum‐GFAP testing for assessment of disease severity in aquaporin‐4 immunoglobulin G–positive neuromyelitis optica spectrum disorder (AQP4‐IgG+ NMOSD).
Felix Wohlrab, Evelyn Alvarez, Roua Hamdi, Bingqing Zhang, Hayeun Ji, Niyati Jhaveri, Patrick Schindler, Pedro Sanchez, Pia S. Sperber, Tanja Schmitz‐Hübsch, Frederike C. Oertel, Nisa Vorasoot, Najib Kissani, Falko Böhringer, Jens Kuhle, Anne‐Katrin Pröbstel, Xiao‐Jun Ma, Péter Körtvelyessy, Patrick Waters, Friedemann Paul   +19 more
wiley   +1 more source