Results 141 to 150 of about 297,136 (308)
Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures
Annals of Neurology, EarlyView.Objective
Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.Haley E. Pysick, Rup K. Sainju, Roshni Nair, Deidre N. Dragon, Eduardo Bravo, Laura Vilella, Xiaojin Li, Samden D. Lhatoo, George B. Richerson, Brian K. Gehlbach +9 morewiley +1 more sourceMigraine: Diagnosis, treatment and understanding c1960-2010 [PDF]
, 2014 seminar transcriptThere are around eight million migraine sufferers in the UK today. This Witness Seminar looked at the last 50 years of research into the diagnosis and treatment of the condition and the changing attitudes of the medical profession ...Overy, C, Tansey, EMcore Tau Pathology in Alzheimer's Disease Uniquely Affects Sulcal Depths
Annals of Neurology, EarlyView.Objective
Though it is widely known that tau deposition affects brain structure, the precise localization of these effects is poorly understood, especially in relation to gyral and sulcal anatomy. We investigated whether tau pathology in Alzheimer's disease (AD) preferentially affects sulci, and particularly sulcal depths.Samira A. Maboudian, Corrina S. Fonseca, Adam C. Martersteck, Yishu Chao, Yuheng Chen, Daniela Ushizima, Duygu Tosun, Lea T. Grinberg, Kevin S. Weiner, William J. Jagust, for the Alzheimer's Disease Neuroimaging Initiative +10 morewiley +1 more sourceTension-Type Headache. Systematic review of the most widespread primary headache disorder.
Journal of Education, Health and Sport
Tension-type headache (TTH) is a primary headache disorder defined by the International Classification of Headache Disorders 3rd edition (ICHD-3) and is one of the most common types of headache worldwide.Michał Hładki, Michalina Simachi, Michalina Janiszewska, Beata Imbirska, Marta Prager-Zimny, Michalina Cyrulik, Natalia Ramlau, Dominika Kolenda, Zuzanna Fischer, Marcin Podolak +9 moredoaj +1 more sourceIndividualized Atrophy‐Based Prediction of Dementia Progression in Familial Frontotemporal Lobar Degeneration With Bayesian Linear Mixed‐Effects Modeling
Annals of Neurology, EarlyView.Objective
Age of symptom onset is highly variable in familial frontotemporal lobar degeneration (f‐FTLD). Accurate prediction of onset would inform clinical management and trial enrollment. Prior studies indicate that individualized maps of brain atrophy can predict conversion to dementia in f‐FTLD.Shubir Dutt, Dana Leichter, Yann Cobigo, Amy Wolf, John Kornak, Annie Clark, Lucy L. Russell, Arabella Bouzigues, David M. Cash, Martina Bocchetta, Molly Olzinski, Brian Appleby, Ece Bayram, Barbara Borroni, Andrea Bozoki, Chris R. Butler, David Clark, Rhian S. Convery, R. Ryan Darby, Alexandre de Mendonça, Bradford Dickerson, Kimiko Domoto‐Reilly, Simon Ducharme, Eve Ferry‐Bolder, Elizabeth Finger, Phoebe H. Foster, Douglas R. Galasko, Daniela Galimberti, Alexander Gerhard, Nupur Ghoshal, Caroline Graff, Neill Graff‐Radford, Ian M. Grant, Chadwick M. Hales, Lawrence S. Honig, Ging‐Yuek Hsiung, Edward D. Huey, David Irwin, Lize C. Jiskoot, Walter Kremers, Justin Y. Kwan, Robert Laforce, Isabelle Le Ber, Gabriel C. Léger, Johannes Levin, Irene Litvan, Ian R. Mackenzie, Mario Masellis, Mario F. Mendez, Fermin Moreno, Chiadi Onyike, Markus Otto, Belen Pascual, Peter Pressman, Rosa Rademakers, Eliana Marisa Ramos, Aaron Ritter, Erik D. Roberson, James B. Rowe, Raquel Sanchez‐Valle, Isabel Santana, Harro Seelaar, Allison Snyder, Sandro Sorbi, Matthis Synofzik, Maria Carmela Tartaglia, Pietro Tiraboschi, John C. van Swieten, Marijne Vandebergh, Rik Vandenberghe, Hilary W. Heuer, Bruce L. Miller, William W. Seeley, Maria Luisa Gorno‐Tempini, Joel H. Kramer, Leah Forsberg, Kejal Kantarci, Bradley F. Boeve, Adam L. Boxer, Jonathan D. Rohrer, Howard J. Rosen, Adam M. Staffaroni, FTD Prevention Initiative (FPI) investigators +82 morewiley +1 more sourceDiverse Genetic Etiologies of Unilateral Polymicrogyria
Annals of Neurology, EarlyView.Objective
Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang +21 morewiley +1 more sourceFibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
Annals of Neurology, EarlyView.Objective
Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods
We Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech +42 morewiley +1 more sourceSex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?
Annals of Neurology, EarlyView.Background
Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods
We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).Maurizio Grassano, Francesca Palumbo, Gabriele Mora, Salvatore Gallone, Giovanni De Marco, Ilaria Merulla, Claudia Paolantonio, Alessandra Maccabeo, Antonio Canosa, Umberto Manera, Rosario Vasta, Barbara Iazzolino, Marcella Testa, Giuseppe Fuda, Paolina Salamone, Giulia Marchese, Federico Casale, Cristina Moglia, Andrea Calvo, Giuseppe Borghero, Adriano Chiò +20 morewiley +1 more sourceCSF‐Compartmentalized Antibody Glycoprofiles in NMDAR Encephalitis Associate with Etiology and Functional Recovery
Annals of Neurology, EarlyView.Objective
To characterize Fc‐glycosylation profiles in patients with anti‐N‐methyl‐D‐aspartate receptor encephalitis (NMDARe) and assess their association with antibody compartmentalization (cerebrospinal fluid [CSF] vs serum), disease triggers (viral, tumor‐related or idiopathic), and 1‐year outcomes.Laura Marmolejo, Claudia Papi, Chiara Milano, Esther Aguilar, Estibaliz Maudes, Ivana Duvnjak Orešković, Jerko Štambuk, Maja Pučić‐Baković, Gemma Olivé‐Cirera, Elianet Fonseca, Mar Guasp, Eugenia Martinez‐Hernandez, Helena Ariño, Takahiro Iizuka, Thais Armangué, Josep Dalmau, Marianna Spatola +16 morewiley +1 more sourceAlternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target
Annals of Neurology, EarlyView.Objective
Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...Arian Hach, Katja Lohmann, Manabu Funayama, Poornima J. Menon, Eva‐Juliane Vollstedt, Teresa Kleinz, Hiroyo Yoshino, Suzanne Lesage, Britta Meier, Carolyn M. Sue, Jean‐Christophe Corvol, Alexis Brice, Nobutaka Hattori, Christine Klein, Aleksandar Rakovic +14 morewiley +1 more source