Results 211 to 220 of about 267,799 (305)

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

Performance evaluation of 3D-printed geopolymer monoliths for cadmium adsorption. [PDF]

Sci Rep
Siddiqui S, Ramakrishnaiah CR, Suranani S, Suneetha YK.   +3 more
europepmc   +1 more source

Inhibition of Classical and Alternative Complement Pathway by Ravulizumab and Eculizumab

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the feasibility of classical (CH50) and alternative (AH50) complement pathway activity as potential biomarkers for treatment guidance and monitoring during therapy with ravulizumab in patients with generalized myasthenia gravis (gMG) and compare these to therapeutic drug monitoring under eculizumab.
Lea Gerischer, Frauke Stascheit, Maximilian Mönch, Paolo Doksani, Carla Dusemund, Meret Herdick, Philipp Mergenthaler, Maike Stein, Amani Suboh, Jutta Schröder‐Braunstein, Guido Wabnitz, Jan D. Lünemann, Sophie Lehnerer, Sarah Hoffmann, Andreas Meisel   +14 more
wiley   +1 more source

A myosin hypertrophic cardiomyopathy mutation disrupts the super-relaxed state and boosts contractility by enhanced actin attachment. [PDF]

Proc Natl Acad Sci U S A
Cail RC, Barua B, Báez-Cruz FA, Winkelmann DA, Goldman YE, Ostap EM.   +5 more
europepmc   +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

Compaction of chromatin domains regulates target search times of proteins. [PDF]

PLoS Comput Biol
Dutta S, Rajakumar A, Padinhateeri R, Mitra MK.   +3 more
europepmc   +1 more source

477. Fundamental and Clinical investigation of SPan-1 RIA beads

, 1992
保田 定利, 助石 宙志, 正木 修, 楠原 俊明, 中瀬 節夫   +4 more
openalex   +2 more sources

Functional Connectivity Linked to Cognitive Recovery After Minor Stroke

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine ...
Vrishab Commuri, Isabella Dallasta, Ciaran Stone, Sophia Girgenti, Neda Gould, Rafael H. Llinas, Jonathan Z. Simon, Elisabeth Breese Marsh   +7 more
wiley   +1 more source

Engineering Strategies for Fungal Cell Disruption in Biotechnological Applications. [PDF]

Eng Life Sci
Mantri BU, Vahidinasab M, Berensmeier S.
europepmc   +1 more source

Comparison of Immunomagnetic Bead Separation‐Immunosensor Detection and Nested‐PCR Methods for Detecting Mycobacterium avium Subspecies paratuberculosis in Cattle Feces [PDF]

Mohammad Khosravi, Mohammad Nouri, Mohammad Rahim Haji Hajikolaei, Ali Kolivand, Darioush Gharibi, Peter D. Constable   +5 more
openalex   +1 more source