Results 121 to 130 of about 277,259 (259)

Practice Recommendations for Genetic Testing of Ataxias

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at‐risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic ...
Sharan R. Srinivasan, Amy D. Mook, Michelle Rochman, Jin Yun Helen Chen, Weiyi Mu, George R. Wilmot, Liana S. Rosenthal, Wendy R. Uhlmann   +7 more
wiley   +1 more source

Pre‐Diagnostic Features of Multiple Sclerosis in a Diverse UK Cohort: A Nested Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Many patients with Multiple Sclerosis (MS) experience nonspecific symptoms prior to diagnosis. This period—the 'MS prodrome'—has been described in socio‐economically homogeneous cohorts to date. It remains unclear to what extent events prior to an MS diagnosis differ according to social determinants of health. Methods We conducted a
Pooja Tank, Benjamin M. Jacobs, Jonathan Bestwick, Ruth Dobson   +3 more
wiley   +1 more source

Genetic Modifiers of Parkinson's Disease: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik, Michael V. Holmes, Pierre Fontanillas, Giulietta M. Riboldi, Ruth B. Schneider, Jingchunzi Shi, Anna Guan, Susana Tat, Steven Micheletti, Keaton Stagaman, Josh Gottesman, David A. Hinds, Joyce Y. Tung, 23andMe Research Team, Stella Aslibekyan, Lucy Norcliffe‐Kaufmann   +15 more
wiley   +1 more source

Chitosan-based biomaterials used in critical-size bone defects: radiographic study in rat's calvaria

Revista de Odontologia da UNESP
OBJECTIVE: This study evaluated, using digital radiographic images, the action of chitosan and chitosan hydrochloride biomaterials, with both low and high molecular weight, used in the correction of critical-size bone defects (CSBD's) in rat's calvaria ...
Rubens Spin-Neto, Felipe Leite Coletti, Rubens Moreno de Freitas, Chaíne Pavone, Sérgio Paulo Campana-Filho, Rosemary Adriana Chiérici Marcantonio   +5 more
doaj  

Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuroinflammation driven by extracellular copper contributes to neuronal damage in Wilson's disease (WD). This study investigated the relationship between brain metal burden and peripheral neuroinflammation markers in WD. Methods We conducted a cross‐sectional study involving 89 participants, including patients with WD (n = 63 ...
Sung‐Pin Fan, Ya‐Fang Chen, Cheng‐Hsuan Li, Yih‐Chih Kuo, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Tai‐Chung Tseng, Tung‐Hung Su, Chien‐Ting Hsu, Huey‐Ling Chen, Chin‐Hsien Lin, Yen‐Hsuan Ni   +12 more
wiley   +1 more source

Characteristics of Cerebral Palsy in the Midwestern US

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebral palsy (CP) is the most common lifelong motor disability worldwide. Yet, data is limited on how CP manifests in the US. Our objective was to characterize and determine factors affecting functional outcomes in a large population of young people with CP in the Midwestern US.
Susie Kim, Kelsey Steffen, Lauren Gottschalk‐Henneberry, Jennifer Miros, Amy Robichaux‐Viehoever, Karen Taca, Bhooma R. Aravamuthan   +6 more
wiley   +1 more source

Nerve Excitability in Asymptomatic Carriers and Amyotrophic Lateral Sclerosis Patients With C9orf72

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We investigated the effects of C9orf72 mutation carriership on peripheral nerve excitability in asymptomatic individuals from families with a history of C9orf72 amyotrophic lateral sclerosis (ALS) and patients. Methods We included 47 asymptomatic individuals from families with a history of C9orf72 ALS, of whom 23 were carriers (C9 ...
Diederik J. L. Stikvoort García, H. Stephan Goedee, Leonard H. van den Berg, Boudewijn T. H. M. Sleutjes   +3 more
wiley   +1 more source

Prevalence of Stroke and Diagnostic Performance of Emergency MRI in Acute Isolated Dizziness

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke is frequently misdiagnosed in patients presenting with acute isolated dizziness; the optimal imaging modality for this population remains debated. This study aimed to determine the prevalence of stroke among patients with isolated dizziness and to assess the diagnostic accuracy of magnetic resonance imaging (MRI) and computed ...
Xiao Hu, Sijia Liu, Xiaosan Wu, Sunhong Yan, Jie Shen, Lei Zhu, Xueyun Liu, Zijie Wang, Chu Chen, Tiannan Yang, Chuanqin Fang, Qi Li   +11 more
wiley   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

A Multi‐Center Retrospective Cohort Study of Neurosarcoidosis Myelitis: Current Observations and Future Directions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The optimal treatment for neurosarcoidosis myelitis is uncertain. We characterize incident neurosarcoidosis myelitis and assess treatment response by MRI and clinical scales. Methods Incident probable or definite neurosarcoidosis myelitis in adults was retrospectively identified from 13 academic medical centers.
Giovanna S. Manzano, Denis Balaban, Yihan Zhang, Brian Healy, Bart K. Chwalisz, Michael Levy, Nagagopal Venna, Barney J. Stern, Carlos A. Pardo, Paula Barreras, Nicole Bou Rjeily, Eoin P. Flanagan, Vyanka Redenbaugh, Allen J. Aksamit Jr., Spencer Hutto, Max Herman, Sally El Sammak, Elsa C. Rodriguez, Laura Snider, Hannah Rains, Mayra Montalvo, Torge Rempe, Sergi Martinez Ramirez, Lucas Horta, Stacey Clardy, Jennifer Lord, Tracey A. Cho, Lama Abdel Wahed, Joseph R. Berger, Rohini D. Samudralwar, Noellie Rivera Torres, David B. Clifford, Steven Richard Dunham, Masoud Majed, Aram Zabeti, Samuel Marcucci, Yang Mao‐Draayer, Jon Doty, Paunel B. Agyei, Shamik Bhattacharyya   +39 more
wiley   +1 more source