Results 181 to 190 of about 638,283 (276)

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

Divided by discipline? A systematic literature review on the quantification of online sexism and misogyny using a semi-automated approach. [PDF]

Scientometrics
Dutta A, Banducci S, Camargo CQ.
europepmc   +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

CCCdb: a comprehensive manually curated database for cell-cell communication in human and mouse. [PDF]

Nucleic Acids Res
Xu M, Zhang G, Wang X, Chen Y, Feng C, Guo J, Fan X, Liu L, Wang Y, Cui T, Liu J, Luo L, Xun Q, Fan Y, Ma X, Tang H, Li C, Shang D.   +17 more
europepmc   +1 more source

Use of Symptomatic Drug Treatment for Fatigue in Multiple Sclerosis and Patterns of Work Loss

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To describe the use of central stimulants and amantadine for fatigue in MS and evaluate a potential association with reduced work loss in people with MS. Methods We conducted a nationwide, matched, register‐based cohort study in Sweden (2006 to 2023) using national registers with prospective data collection.
Simon Englund, Johan Reutfors, Thomas Frisell, Fredrik Piehl   +3 more
wiley   +1 more source

Virtual Surgical Planning (VSP) in Orthognathic Surgery for Non-Syndromic Cleft Patients: A Scoping Review of Trends and Clinical Outcomes. [PDF]

J Clin Med
Drążek J, Bliźniak F, Lubecka K, Wołoszyn J, Kęska M, Chęciński M, Szuta M, Sikora M.   +7 more
europepmc   +1 more source

By Zargay Habibi, Teaching Assistant Computer Science Faculty Database and Information System Department Mentors: Badam Niazi, Teaching Assistant and jamilurahman Faizi Teaching Assistant

Zargay Habibi
openalex   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

The consolidation of open-source computer-assisted chemical synthesis data into a comprehensive database. [PDF]

J Cheminform
Hasic H, Ishida T.
europepmc   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source