Results 151 to 160 of about 3,346 (262)

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Stochastic analysis of compact stars under composite polytropes. [PDF]

Sci Rep
Nouh MI, El-Essawy SH, Foda MM, Aboueisha MS.   +3 more
europepmc   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Accurate geometric albedo, shape, and size of Hi'iaka from a stellar occultation. [PDF]

Nat Commun
Fernández-Valenzuela E, Ortiz JL, Holler BJ, Sicardy B, Rommel FL, Vara-Lubiano M, Morales N, Vachier F, Desmars J, Kretlow M, Vieira-Martins R, Jehin E, Ferrais M, Santos-Sanz P, Rustamkulov Z, de la Vega A, Warner E, Benkhaldoun Z, Kamin R, Ryan A, Earls B, Conti D, de Wit J, Burdanov A, Francini R, Langill P, Morales R, Fraser W, Kiss C, Pál A, Souami D, Lecacheux J, Braga-Ribas F, Duffard R, Alvarez-Candal A, Benedetti-Rossi G, Morgado B, Camargo JIB, Júnior ARG, Assafin M, Aissa DB, Grigahcene Z, Buie MW, Licandro J, Alarcon MR, Serra-Ricart M, Castro-Tirado A, Fernandez-Garcia EJ, Iglesias-Marzoa R, Galindo-Guil FJ, González H, Gonçalves R, Rengstorf A, Flynn R, Olsen A, Hanna B, Barnes J, A'Hearn JA, Kreyche SM, Miller WJ, Mortensen LE, Gibson TC, Walker G, Stolle-McAllister G, Feiden GA, Froetschel J, Steel S, Encardes D, Fisher RS, Luken A, Holcomb E, Caton D, Dunford B, Monin D.   +73 more
europepmc   +1 more source

Quantitative MRI Uncovers Subtle Cortical Damage in Myelin Oligodendrocyte Glycoprotein Antibody‐Associated Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether myelin‐sensitive quantitative MRI reveals microstructural abnormalities in normal‐appearing cortex (NACtx) in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), indicating that conventional MRI underestimates remission residual cortical injury.
Valentina Camera, Agnese Tamanti, Silvia Messina, Nicola Dall'Osto, Teresa Maltempo, Stefano Ziccardi, Matteo Foschi, Maria Grazia Piscaglia, Diana Ferraro, Francesco Crescenzo, Francesca Rossi, Albulena Bajrami, Sabrina Marangoni, Damiano Marastoni, Francesca Benedetta Pizzini, Maria Isabel Leite, Roberta Magliozzi, Patrick Waters, Massimiliano Calabrese, Jacqueline Palace, Ruth Geraldes   +20 more
wiley   +1 more source

Stellar Physics [PDF]

Physics Today, 2003
openaire   +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

Finite-Capacity Thermodynamics of Causal Horizons. [PDF]

Entropy (Basel)
Antiba CA.
europepmc   +1 more source

Vascular Disease, Non‐Steroidal Anti‐Inflammatory Drugs and Risk of Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives A history of vascular disease has been shown to be associated with an increased risk of Parkinson's disease, but this may be due to reverse causation. In addition, non‐steroidal anti‐inflammatory drugs are thought to reduce Parkinson's disease risk, but evidence is inconsistent and confounding by prior vascular disease is possible ...
Clare Wotton, Carol Hermon, Sarah Floud, Gillian Reeves, Isobel Barnes   +4 more
wiley   +1 more source

Kinetic Jeans instability in FOG framework. [PDF]

Sci Rep
Das M, Atteya A, Karmakar PK.
europepmc   +1 more source