Results 261 to 270 of about 2,115,183 (392)

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Anatomical Associations Between Focal Mitochondrial Metabolism and Patterns of Neurodegeneration in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a very specific neuroimaging signature, but the molecular underpinnings of the strikingly selective anatomic involvement have not elucidated to date. Accordingly, a large neuroimaging study was conducted with 258 participants to evaluate associations between patterns of neurodegeneration and focal ...
Marlene Tahedl, We Fong Siah, Efstratios Karavasilis, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Foteini Christidi, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

Caught on Tape: How Video Clarified Focal to Bilateral Tonic-Clonic Seizures? [PDF]

Epilepsy Curr
Bhansali S, Punia V.
europepmc   +1 more source

Characteristic Features of the Interictal EEG Background in 2 Patients With Malignant Migrating Partial Epilepsy in Infancy

, 2015
Olga Selioutski, Laurie E. Seltzer, James L. Burchfiel, Alex R. Paciorkowski, Giuseppe Erba   +4 more
openalex   +1 more source

Thrombectomy versus Medical Management for Pediatric Acute Ischemic Stroke Due to Isolated M2 Occlusion: A Multicenter Cohort Study

Annals of Neurology, EarlyView.
Objective Endovascular thrombectomy (EVT) is increasingly used for pediatric large vessel occlusion (LVO) stroke, however, its role in isolated M2 occlusions remains underexplored. This study compared clinical outcomes in children with isolated M2 occlusion treated with EVT versus best medical therapy (BMT). Methods This multicenter cohort study pooled
Peter B. Sporns, Kartik D. Bhatia, Prakash Muthusami, Carmen Parra‐Farinas, Christine K. Fox, Adam A. Dmytriw, Basile Kerleroux, Sarah Lee, Jens Fiehler, Christian Lehmann, Franja Dugar, Todd Abruzzo, Lisa Pabst, Stuart Fraser, Lisa R. Sun, Grégoire Boulouis, Tanja Burkard, Olivier Naggara, Manoelle Kossorotoff, André Kemmling, Martin Olivieri, Mesha Martinez, Marios Psychogios, Thi Dan Linh Nguyen‐Kim, Moritz Wildgruber   +24 more
wiley   +1 more source

Tenecteplase Versus Alteplase for First‐Pass Reperfusion in Basilar Artery Occlusion Stroke Thrombectomy

Annals of Neurology, EarlyView.
Objective The first‐pass effect (FPE), defined as excellent reperfusion after a single attempt, is associated with improved outcomes in large vessel occlusion stroke. We evaluated whether intravenous tenecteplase (TNK) compared with alteplase (TPA) increases the likelihood of FPE in basilar artery occlusion (BAO).
Dylan N. Wolman, Rahul R. Karamchandani, Sina Hemmer, Tyler M. Bielinski, Nitin Goyal, Jeremy B. Rhoten, Mahesh V. Jayaraman, Christian T. Sidebottom, Bradley A. Gross, Alhamza R. Al‐Bayati, Mohamed F. Doheim, Matthew K. Tobin, Anoop Chinthala, Avi Gajjar, Justin Mascitelli, Matthew R. Webb, Jan‐Karl Burkhardt, Kyle W. Scott, Visish Srinivasan, Daniel Tonetti, Manisha Koneru, David J. Altschul, Dhrumhil Vaishnav, Sumeet Multani, Thana Theofanis, William J. Ares, Je Yeong Sone, Ramin Zand, Sasan Bahrami, Jiang Li, Gary Defilipp, Dale Strong, Radmehr Torabi, Krisztina Moldovan, Clemens M. Schirmer, Alexandra R. Paul, Bradley N. Bohnstedt, Raul G. Nogueira, Philipp Hendrix   +38 more
wiley   +1 more source

The Top 100 Most Cited Articles on Epilepsy Surgery: A Bibliometric Analysis of the Literature. [PDF]

Cureus
Gould J, Patel S, Chaurasia B.
europepmc   +1 more source

Eslicarbazepine acetate add-on for drug-resistant partial epilepsy. [PDF]

Cochrane Database Syst Rev, 2017
Chang XC, Yuan H, Wang Y, Xu HQ, Hong WK, Zheng RY.   +5 more
europepmc   +1 more source

Long‐term efficacy and tolerability of topiramate as add‐on therapy in refractory partial epilepsy: An observational study

Epilepsia, 2009
Yang-Je Cho, K. Heo, W. Kim, S. Jang, Y. Jung, B. S. Ye, D. Song, Byung In Lee   +7 more
semanticscholar   +1 more source

The Epidemiology of Primary Lateral Sclerosis: Results from a Population‐Based Cohort

Annals of Neurology, EarlyView.
Objective In this population‐based study, we described the epidemiology of primary lateral sclerosis (PLS) in northern Italy and compared the clinical characteristics of patients with PLS to those with predominant upper motor neuron (PUMN) involvement and classic amyotrophic lateral sclerosis (ALS).
Rosario Vasta, Enrico Matteoni, Giorgio Pellegrino, Antonio Canosa, Umberto Manera, Francesca Palumbo, Maurizio Grassano, Sara Cabras, Alessandra Maccabeo, Fabrizio D'Ovidio, Gabriele Mora, Salvatore Gallone, Elisa D'Angelo, Letizia Mazzini, Fabiola De Marchi, Cristina Moglia, Adriano Chiò, Andrea Calvo   +17 more
wiley   +1 more source