Results 171 to 180 of about 1,958,128 (299)

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

DNA methylation is associated with von Willebrand factor and coagulation factor VIII plasma levels: the atherosclerosis risk in communities study. [PDF]

Clin Epigenetics
Hahn J, Bressler J, Fornage M, Boerwinkle E, Smith NL, Morrison AC, de Vries PS.   +6 more
europepmc   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Estimating the Factor VIII-Equivalent Activity of Emicizumab Using Global Assays of Haemostasis. [PDF]

Haemophilia
Kraemmer D, Ay C, Rejtő J, Heinze G, Quehenberger P, Pabinger I, Königsbrügge O.   +6 more
europepmc   +1 more source

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Induction of factor VIII tolerance by hemophilia gene transfer to eradicate factor VIII inhibitors. [PDF]

Blood Adv
Young G.
europepmc   +1 more source

Neuroinflammation in GAD65 Antibody‐Associated Epilepsy Measured Using [18F]DPA‐714 PET/MRI

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The timing for initiating immunotherapy in patients with glutamic acid decarboxylase 65 (GAD65) antibody‐associated epilepsy is a challenge. We used the translocator protein radioligand [18F]DPA‐714 and PET to evaluate brain microglial activation.
Jingjing Chen, Yuying Zhang, Heyu Zhang, Jinming Zhang, Ningning Wang, Xintong Guo, Yicong Liu, Yue Liu, Xiangsong Zhang, Ziyi Chen, Guanzhong Ni   +10 more
wiley   +1 more source

Biventricular and Multisystem Thrombosis in a Young Patient With Elevated Factor VIII: A Case Report. [PDF]

Cureus
Leib CS, Ariza-Ordonez N, Isaza D.
europepmc   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

<i>Erratum</i> to: "Consistent clinical factor VIII equivalency is unlikely for non-factor therapies in hemophilic mice". [PDF]

Haematologica
Sefiane T, McCluskey G, Clavel M, Maynadié H, Peyron I, David T, Brochier C, Saller F, Khamari M, Denis CV, Christophe OD, Lenting PJ, Muczynski V, Casari C.   +13 more
europepmc   +1 more source