Results 61 to 70 of about 638 (208)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird, Haley McQuown, Jihyun Park, Samuel J. Teener, Ian F. Webber‐Davis, Andrew D. Carter, Dae‐Gyu Jang, Eva L. Feldman, Stephen A. Goutman, Benjamin J. Murdock   +9 more
wiley   +1 more source

A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi, Giorgio Ricciardiello Mejia, Andre Metzger, Kang Hyun Ryu, Salonee Marwaha, Eva Grzegorczyk, Li Zhou, Eliana Jacobs, Boris Gilyadov, Claudia Kunney, Liqhwa Ncube, Ankit Parekh, Emmanuel Mignot, Fanny M. Elahi, Joseph Winer, Kathleen Poston, Andreas Brink‐Kjaer, Emmanuel H. During   +17 more
wiley   +1 more source

Variety of Chassean burials in the Toulouse region: the contribution of Sauzas (Blagnac, Haute-Garonne)

Gallia Préhistoire, 2018
Up until the discovery of the Chassean funerary complex of Sauzas, (Blagnac, Haute-Garonne), in 2008, all of the burials recorded in the Toulousain were in dwelling sites, and generally in domestic type structures (ditches, pits, shafts).
Fabrice Pons, Muriel Gandelin, Jérôme Rouquet   +2 more
doaj   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Ji‐Hyung Park, Eun‐Hyuk Choi, Jorge Otero‐Millan, David S. Zee, Jeong‐Yoon Choi, Ji‐Soo Kim   +5 more
wiley   +1 more source

Adornments in Funeral Contexts: Analysis of a Necklace from the Bronze Age Cemetery at Cândești, Romania

Heritage
The Cândești necropolis is currently the largest excavated Bronze Age necropolis in Romania, with approximately 800 graves. Notably, one grave from an earlier phase of the Monteoru culture (c.
Monica Mărgărit, Anca-Diana Popescu, Mădălina Stănescu, Rodica-Mariana Ion, Sofia Slămnoiu-Teodorescu, Daniela Cristea-Stan   +5 more
doaj   +1 more source

Variété des inhumations chasséennes en région toulousaine : l’apport du site de Sauzas (Blagnac, Haute-Garonne)

Gallia Préhistoire, 2018
Up until the discovery of the Chassean funerary complex of Sauzas (Blagnac, Haute-Garonne), in 2008, all of the burials recorded in the Toulousain were in dwelling sites, and generally in domestic type structures (ditches, pits, shafts).
Fabrice Pons, Muriel Gandelin, Jérôme Rouquet   +2 more
doaj   +1 more source

Temporal Interference Stimulation of Centromedian‐Parafascicular Complex in Disorders of Consciousness: A Pilot Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Treatment of disorders of consciousness (DoC) remains a major clinical challenge, and noninvasive, targeted modulation of deep brain structures has emerged as a promising therapeutic strategy. We aimed to evaluate the feasibility/safety and preliminary effects of thalamic temporal interference stimulation (TIS) targeting centromedian‐
Gengyao Hu, Changgeng Song, Dianwei Wu, Xiaoqian Niu, Jianmin Hao, Lijuan Liu, Xiaogang Kang, Wen Jiang   +7 more
wiley   +1 more source

Grave VIa at Oakhurst Shelter: Reporting on a 5000-year-old mistaken identity and associated grave-goods

Southern African Field Archaeology
Almost a century ago, Goodwin excavated Grave VIa at Oakhurst Shelter that later became known as one of the most intriguing Later Stone Age burials in southern Africa. At the time, and in subsequent discussions, it was thought that a man was buried with
Marlize Lombard
doaj   +1 more source