Results 61 to 70 of about 2,332 (142)

Advancing Precision Nutrition Through Multimodal Data and Artificial Intelligence

Advanced Science, Volume 13, Issue 17, 23 March 2026.
Individual responses to food vary dramatically, challenging traditional dietary advice. This review explores how the unique genetic makeup, gut microbiome, and brain activity shape host metabolic health. We examine how artificial intelligence integrates these multimodal data to predict individualized dietary needs, moving beyond one‐size‐fits‐all ...
Yuanqing Fu, Ke Zhang, Zelei Miao, Gaoyi Yang, Yujing Huang, Ju‐Sheng Zheng   +5 more
wiley   +1 more source

Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients

Orphanet Journal of Rare Diseases
Background Primary periodic paralysis (PPP) is an inherited disorders of ion channel dysfunction characterized by recurrent episodes of flaccid muscle weakness, which can classified as hypokalemic (HypoPP), normokalemic (NormoPP), or hyperkalemic ...
Xuechao Zhao, Haofeng Ning, Lina Liu, Chaofeng Zhu, Yinghui Zhang, Guifang Sun, Huanan Ren, Xiangdong Kong   +7 more
doaj   +1 more source

Phenotypic heterogeneity in skeletal muscle sodium channelopathies: A case report and literature review

Journal of Pediatric Neurosciences, 2013
Skeletal muscle sodium channelopathies (SMSCs) including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PC), and sodium channel myotonia are caused by sodium channel gene (SCN4A) mutations, with altered sarcolemal excitability, and ...
Rashid Saleem, Gururaj Setty, Arif Khan, Duncan Farrell, Nahin Hussain   +4 more
doaj   +1 more source

Genetic defects are common in myopathies with tubular aggregates

Annals of Clinical and Translational Neurology, 2022
Objective A group of genes have been reported to be associated with myopathies with tubular aggregates (TAs). Many cases with TAs still lack of genetic clarification. This study aims to explore the genetic background of cases with TAs in order to improve
Qiang Gang, Conceição Bettencourt, Stefen Brady, Janice L. Holton, Estelle G. Healy, John McConville, Patrick J. Morrison, Michela Ripolone, Raffaella Violano, Monica Sciacco, Maurizio Moggio, Marina Mora, Renato Mantegazza, Simona Zanotti, Zhaoxia Wang, Yun Yuan, Wei‐wei Liu, David Beeson, Michael Hanna, Henry Houlden   +19 more
doaj   +1 more source

Dynamic MR of Muscle Contraction During Electrical Muscle Stimulation: Potential Application to the Evaluation of Neuromuscular Diseases

NMR in Biomedicine, Volume 38, Issue 12, December 2025.
This exploratory study investigated dynamic MRI during neuromuscular electrical stimulation (NMES) as a biomarker for muscular diseases. Fourteen healthy controls and ten patients with metabolic and myotonic myopathies underwent 3T MRI scanning. Results showed reduced strain and strain buildup rates in patients' soleus muscles compared to controls ...
Francesco Santini, Michele Giovanni Croce, Xeni Deligianni, Marta Brigid Maggioni, Matteo Paoletti, Leonardo Barzaghi, Niels Bergsland, Arianna Faggioli, Giulia Manco, Chiara Bonizzoni, Ning Jin, Sabrina Ravaglia, Anna Pichiecchio   +12 more
wiley   +1 more source

Voltage Sensors in Hypokalemic Periodic Paralysis

Pediatric Neurology Briefs, 2009
Researchers at the National Hospital, Queen Square, London, UK, conducted automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 patients with hypokalemic periodic paralysis (HypoPP).
J Gordon Millichap
doaj   +1 more source

Resistance Training in a Patient With Hypokalemic Periodic Paralysis and Permanent Weakness: A Case Report

Muscle &Nerve, Volume 74, Issue 1, Page 265-268, July 2026.
Jeppe Moesgaard Rasmussen, Anne Lagoni, Tina Dysgaard, Linda Kannuberg, Nanna Witting, Sonja Holm‐Yildiz   +5 more
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Ion channels

British Journal of Pharmacology, Volume 182, Issue S1, Page S152-S241, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Jörg Striessnig, Alasdair J. Gibb, Alistair A. Mathie, Emma L. Veale, Eamonn Kelly, Chloe J. Peach, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Richard W. Aldrich, Bernard Attali, Austin M. Baggetta, Elvir Becirovic, David J. Beech, Martin Biel, Roslyn M. Bill, Ana I. Caceres, William A. Catterall, Han Chow Chua, Alex C. Conner, Henry Danahay, Paul Davies, Katrien De Clerq, Markus Delling, Francesco Di Virgilio, Simonetta Falzoni, Wei Fang, Stefanie Fenske, Anna Fortuny‐Gomez, Samuel Fountain, George K. Chandy, Mohammad‐Reza Ghovanloo, Steve A. N. Goldstein, Martin Gosling, Christian Grimm, Stephan Grissmer, Kotdaji Ha, Tim G. Hales, Verena Hammelmann, Israel Hanukoglu, Meiqin Hu, Ad P. Ijzerman, Sairam V. Jabba, Mike Jarvis, Anders A. Jensen, Sven E. Jordt, Leonard K. Kaczmarek, Stephan Kellenberger, Charles Kennedy, Brian King, Philip Kitchen, Qiang Liu, Joseph W. Lynch, Rian W. Manville, Jessica Meades, Verena Mehlfeld, Annette Nicke, Stefan Offermanns, Edward Pérez‐Reyes, Leigh D. Plant, Stephan A. Pless, Lachlan D. Rash, Dejian Ren, Hussein N. Rubaiy, Mootaz M. Salman, Werner Sieghart, Lucia G. Sivilotti, Trevor G. Smart, Terrance P. Snutch, Paolo Tammaro, Jinbin Tian, James S. Trimmer, Charlotte Van den Eynde, Paola Vergani, Joris Vriens, Stephen G. Waxman, Aguan D. Wei, Brenda T. Winn, Heike Wulff, Haoxing Xu, Fan Yang, Lixia Yue, Xiaoli Zhang, Michael Zhu   +86 more
wiley   +1 more source

Натриеви каналопатии

Българска неврология, 2023
Човешката субединица – NaV1.4, влизаща в структурата на натриевия канал, е кодирана от SCN4A гена, разположен в хромозома 17q23. В зависимост от типа на възникналите мутации в SCN4A гена, може да се наблюдава патологично повишена или намалена мускулна ...
Stanislava Blagoeva, Teodora Chamova, Ivailo Tournev   +2 more
doaj  

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.

PLoS ONE, 2020
Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride channel CLC-1 and the SCN4A gene encoding voltage-gated sodium channel Nav1.4.
Chenyu Zhao, DongFang Tang, Hui Huang, Haiyan Tang, Yuan Yang, Min Yang, Yingying Luo, Huai Tao, Jianguang Tang, Xi Zhou, Xiaoliu Shi   +10 more
doaj   +1 more source