Results 111 to 120 of about 4,431,472 (259)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Biophysics Austria: 65 years history. [PDF]

Eur Biophys J
Pohl EE, Groschner K.
europepmc   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

The Tenno Society, the Buke Society, and the Industrial Society

Transactions of the Japan Academy, 2017
openaire   +2 more sources

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

Congresses, Symposia, Lectures, Education Courses

CHIMIA, 2017
Swiss Chemical Society
doaj   +6 more sources

Subjective Cognitive Concerns and Cognitive Trajectories in Parkinson's Disease: Biomarker Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the relationship of subjective cognitive concerns (SCC) with biomarkers of Alzheimer's disease (AD), neurodegeneration, and Parkinson's disease (PD) and domain‐specific cognitive trajectories among cognitively unimpaired persons with de novo PD. Method Cognitively unimpaired participants with SCC (n = 294) and without SCC (
Francesca V. Lopez, Fareshte Erani, Katherine J. Bangen, David G. Coughlin, Douglas Galasko, Kelsey R. Thomas   +5 more
wiley   +1 more source

Anticoagulation Treatment Response Among Phenotypic ESUS Clusters: Evidence From CASPR

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate treatment effect heterogeneity across phenotypic clusters of patients with cryptogenic embolic stroke using causal inference methods. Methods From a retrospective, multicenter cohort of patients with cryptogenic embolic stroke, we estimated the treatment effect of anticoagulation versus antiplatelet therapy in patients ...
Elena Badillo Goicoechea, Patrick Ellsworth, James E. Siegler, James R. Brorson, Christina M. Lineback, Frank G. Conyers, Deborah Kerrigan, Kelsey Eklund, Shadi Yaghi, Farid Khasiyev, Emiliya Melkumova, Collin J. Culbertson, Marissa D'Souza, Dinesh V. Jillella, Patrick Glover, Hassan Aboul‐Nour, Fadi Nahab, Mahan Shahrivari, Simona Nedelcu, David S. Liebeskind, Matthew M. Smith, Aaron Rothstein, Anna Bowman, Alicia Zha, Narendra Kala, Ahmad Abu Qdais, Sami Al Kasab, Mudassir Farooqui, Diana Rojas‐Soto, Yasmin Aziz, Franziska Herpich, Jean‐Philippe Daniel, Sean L. Thompson, Vivek Patel, Thanh N. Nguyen, Siddharth Sehgal, Wenzheng Yu, Wayneho Kam, Russel Van Coevering, Oana M. Dumitrascu, Muhammad Alvi, Balaji Krishnaiah, Setareh Salehi Omran, Guillermo Linares, Eesha Singh, Hamid Ali, Mary Penckofer, Jesse M. Thon, Shani Mannion, Dalia Chahien, Lucia Chen, Fawad Talat, Mehdi Abbasi, Richa Sharma   +53 more
wiley   +1 more source

Correction to: 'Exposure of male mice to nicotine leads to metabolic dysfunction in their male and female offspring'. [PDF]

J Endocr Soc
europepmc   +1 more source

Mind the Gap: Disparities in Education on Organ Donation and Transplantation-Results of a Global Survey. [PDF]

Transplant Direct
Herrera-Gayol A, Askar M, Meshram HS, Gondolesi GE, Krishnan N, Dwyer KM, Dhital K, Beed S, Stock P, Kute VB, Diaz C, Ghnaimat M, Barbari A, Abbud-Filho M, Tan BH, Gill J, Schiff J, Elenjickal EJ, Bušic M, Danziger-Isakov L, Egawa H, Ferreira G, Garcia-Padilla P, Ha J, Imventarza O, Hawthorne WJ, Manyalich M, Pilmore H, Berenguer M, Domínguez-Gil González B, Tchervenkov J, Sandal S, Cantarovich M, members of the TTS Working Group and the participating national, regional and international societies/organizations, members of the TTS Working Group and the participating national, regional and international societies/organizations .   +36 more
europepmc   +1 more source