Results 61 to 70 of about 32,320 (220)

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

The GCTx format and cmap{Py, R, M, J} packages: resources for optimized storage and integrated traversal of annotated dense matrices

Bioinform., 2018
Motivation Facilitated by technological improvements, pharmacologic and genetic perturbational datasets have grown in recent years to include millions of experiments.
Oana M. Enache, D. Lahr, Ted E. Natoli, Lev Litichevskiy, David Wadden, Corey Flynn, Joshua Gould, Jacob K. Asiedu, Rajiv Narayan, A. Subramanian   +9 more
semanticscholar   +1 more source

Influência de doses de fósforo no fluxo difusivo em solos de Alagoas Influence of phosphorus doses in diffusive flow in the soils of Alagoas

Revista Brasileira de Engenharia Agrícola e Ambiental, 2008
Objetivando avaliar o efeito de diferentes doses de fósforo sobre o fluxo difusivo deste elemento em amostras de solos do Estado de Alagoas, conduziu-se um experimento em laboratório, no Centro de Ciências Agrárias da Universidade Federal de Alagoas ...
Adelmo L. Bastos, José P. V. da Costa, Ivandro de F. da Silva, Roberto W. C. Raposo, Jacob S. Souto   +4 more
doaj   +1 more source

Presynaptic Congenital Myasthenic Syndromes

Muscle &Nerve, EarlyView.
ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley   +1 more source

Root-CMAP latencies, MEP latencies and CMCTs.

, 2016
Root-CMAP latencies, MEP latencies and CMCTs.
Francesca Sperli (253869), Antonio Bertolotto (253875), Federica Melillo (2793337), Marco Capobianco (253863), Alessia Di Sapio (2793340), Walter Troni (750546), Simona Malucchi (253860)   +6 more
core   +1 more source

Motor Unit Number Estimation of Human Abductor Hallucis from a CMAP Scan

Muscle and Nerve, 2018
Introduction: This study performed motor unit number estimation (MUNE) of the abductor hallucis (AH) muscle from 16 healthy control participants on the basis of the compound muscle action potential (CMAP) scan.
Xiaoyan Li, Ya Zong, C. Klein, P. Zhou
semanticscholar   +1 more source

Interpretable seasonal multisite hidden Markov model for stochastic rain generation in France [PDF]

Advances in Statistical Climatology, Meteorology and Oceanography
We present a lightweight stochastic weather generator (SWG) based on a multisite hidden Markov model (HMM) trained on a large area with French weather station data.
E. Gobet, D. Métivier, D. Métivier, S. Parey   +3 more
doaj   +1 more source

Retinoic Acid Receptor Is a Novel Therapeutic Target for Postoperative Cognitive Dysfunction

Pharmaceutics, 2023
Postoperative cognitive dysfunction (POCD) is a clinical syndrome characterizing by cognitive impairments in the elderly after surgery. There is limited effective treatment available or clear pathological mechanisms known for this syndrome. In this study,
Yongjie Bao, Wenni Rong, An Zhu, Yuan Chen, Huiyue Chen, Yirui Hong, Jingyang Le, Qiyao Wang, C. Benjamin Naman, Zhipeng Xu, Lin Liu, Wei Cui, Xiang Wu   +12 more
doaj   +1 more source

The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley   +1 more source

CMAP and SNAP recordings.

, 2014
A. CMAP evoked by distal (top trace) and proximal (bottom trace) stimulation. B. SNAP stimulus-response curve with 1 mA stimulus step increments starting subthreshold at the top trace and increasing to supramaximal by the bottom trace.
John R. Hotson (541249)
core   +1 more source