Results 141 to 150 of about 1,108,914 (332)

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

5′ DREDGE: Direct Repeat-Enabled Downregulation of Gene Expression via the 5′ UTR of Target Genes

Cells
Despite the availability of numerous methods for controlling gene expression, there remains a strong need for technologies that maximize two key properties: selectivity and reversibility.
Sagar J. Parikh, Heather M. Terron, Luke A. Burgard, Dylan D. Butler, Frank M. LaFerla, Shelley Lane, Malcolm A. Leissring   +6 more
doaj   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Autism Spectrum Disorder May Be Highly Prevalent in People with Functional Neurological Disorders [PDF]

, 2022
Belén González‐Herrero, Francesca Morgante, Javier Pagonabarraga, Biba Stanton, Mark J. Edwards   +4 more
openalex   +1 more source

Deep Learning–Assisted Differentiation of Four Peripheral Neuropathies Using Corneal Confocal Microscopy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah, Ioannis N. Petropoulos, Mark Stettner, Maryam Ferdousi, Uazman Alam, Nathan Efron, Ahmed Serag, Rayaz A. Malik   +7 more
wiley   +1 more source

780Clinical Characteristics And Outcomes among Children with Neurological Disorders Hospitalized with Community-acquired Pneumonia (CAP) in the Etiology of Pneumonia in the Community (EPIC) Study [PDF]

, 2014
Alexander J. Millman, Lyn Finelli, Anna M. Bramley, Georgina Peacock, Derek J. Williams, Sandra R. Arnold, Carlos G. Grijalva, Evan J. Anderson, Jonathan A. McCullers, Krow Ampofo, Andrew T. Pavia, Kathryn M. Edwards, Seema Jain   +12 more
openalex   +1 more source

Neurological Disorders and Covid-19 At the University Hospital of Lome

, 2023
Vinyo Kodzo Kumako, Léhleng Agba, Kossivi Apétsè, Damelan Kombaté, Komi Assogba, Mofou Belo, Ayelo- La Balogou, Vinyo Kodzo Kumako, N Zhu, D Zhang, W Wang, X Li, B Yang, J Song, . Tan, W, Y Wu, W Ho, Y Huang, D Jin, S Li, S Liu, . Zheng, Z, L Mao, H Jin, M Wang, Y Hu, S Chen, Q He, . Hu, B, D Wang, B Hu, C Hu, F Zhu, X Liu, J Zhang, . Peng, Z, W Wu, A Wang, M Liu, A Balogou, K Grunitzky, K Tossa, M Belo, A Kowu, C Von Weyhern, I Kaufmann, F Neff, M Kremer, I Solomon, E Normandin, S Bhattacharyya, S Mukerji, K Keller, A Ali, . Sabeti, P, R Reichard, K Kashani, N Boire, E Constantopoulos, Y Guo, C Lucchinetti, K Assogba, B Mofou, A Ekue, K Apets, D Kombat, K Ekouvi   +71 more
openalex   +1 more source

iPSCs: A Preclinical Drug Research Tool for Neurological Disorders [PDF]

, 2021
Gabriele Bonaventura, Rosario Iemmolo, Giuseppe Antonino Attaguile, Valentina La Cognata, Brigida Sabrina Pistone, Giuseppe Raudino, Velia D’Agata, Giuseppina Cantarella, Maria Luisa Barcellona, Sebastiano Cavallaro   +9 more
openalex   +1 more source

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein, Haoqi Sun, Sophie Lehnerer, Lea Gerischer, Maximilian Mönch, Christian Meisel, Andreas Meisel, Pushpa Narayanaswami   +7 more
wiley   +1 more source