Results 231 to 240 of about 7,324,524 (245)

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

Peripheral TDP-43 pathology in amyotrophic lateral sclerosis: toward a systemic proteinopathy. [PDF]

Acta Neuropathol
Codron P, Miranda M, Garnier M, He S, Gouju J, Cassereau J, Leblanc P, Letournel F.   +7 more
europepmc   +1 more source

Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin, Tianyuan Yang, Minglei Liu, Haiyang Luo, Jing Yuan, Ke Zhang, Xinsheng Han, Jing Yang, Yuming Xu   +8 more
wiley   +1 more source

Biological heterogeneity in Parkinson's disease: implications for MRI-based patient stratification. [PDF]

NPJ Parkinsons Dis
Pokotylo MM, Brüggemann N, Prasuhn J.
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

Baseline Neuroinflammation Stratifies TSPO‐PET Response to Disease‐Modifying Therapy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate which baseline clinical and imaging characteristics best predict TSPO‐PET‐measurable reduction in glial activation following treatment of multiple sclerosis (MS), to utilize this information for designing more efficient biomarker‐based clinical trials targeting glial activation.
Marlene T. Morch, Markus Matilainen, Giulia N. Baldrighi, Marjo Nylund, Maija Saraste, Laura Airas   +5 more
wiley   +1 more source

Direct clinician-pathologist multidisciplinary review and diagnostic revision in children with gastrointestinal disorders. [PDF]

JPGN Rep
Dahl E, Bergheim C, Berger I, Melchior R, Jenke A.   +4 more
europepmc   +1 more source

Role of alpha-1-acid glycoprotein for diagnosing feline infectious peritonitis

, 2005
V. Tranquillo, S. Paltrinieri, A. Giordano   +2 more
core   +1 more source

Agentic systems in computational pathology: architectures, evidence, and translational challenges. [PDF]

J Transl Med
Lu X, Li Q, Gao Y, Dong W, Lyu M, Ma S, Li J, Wu Y, Cai L, Zhang T, Lyu S, Liu Z, Liu H, Luo S.   +13 more
europepmc   +1 more source

A new era of genome-wide association studies in the field of Alzheimer's disease and overlapping co-pathologies: lessons learned from a neuropathology-centered approach. [PDF]

Acta Neuropathol
Laureyssen C, Thal DR, Sleegers K.
europepmc   +1 more source