Results 61 to 70 of about 3,329 (204)

The prevalence of hereditary neuromuscular disorders in Northern Norway

Brain and Behavior, 2021
Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller, Marijke Van Ghelue, Irene Lund, Christoffer Jonsrud, Kjell Arne Arntzen   +4 more
doaj   +1 more source

Muscle hypertrophy in myotonia congenita [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2003
A 28 year old male presented to our neurology service with stiffness of a few years’ duration in all muscles. The stiffness was maximum at the onset of exercise and his muscles loosened up after some time. He had no difficulty in releasing his grip after holding an object. He had very well developed muscles in spite …
B, Varkey, L, Varkey
openaire   +2 more sources

Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 3, June 2025.
ABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling.
Jose Verdu‐Diaz, Carla Bolano‐Díaz, Alejandro Gonzalez‐Chamorro, Sam Fitzsimmons, Jodi Warman‐Chardon, Goknur Selen Kocak, Debora Mucida‐Alvim, Ian C. Smith, John Vissing, Nanna Scharff Poulsen, Sushan Luo, Cristina Domínguez‐González, Laura Bermejo‐Guerrero, David Gomez‐Andres, Javier Sotoca, Anna Pichiecchio, Silvia Nicolosi, Mauro Monforte, Claudia Brogna, Eugenio Mercuri, Jorge Alfredo Bevilacqua, Jorge Díaz‐Jara, Benjamín Pizarro‐Galleguillos, Peter Krkoska, Jorge Alonso‐Pérez, Montse Olivé, Erik H. Niks, Hermien E. Kan, James Lilleker, Mark Roberts, Bianca Buchignani, Jinhong Shin, Florence Esselin, Emmanuelle Le Bars, Anne Marie Childs, Edoardo Malfatti, Anna Sarkozy, Luke Perry, Sniya Sudhakar, Edmar Zanoteli, Filipe Tupinamba Di Pace, Emma Matthews, Shahram Attarian, David Bendahan, Matteo Garibaldi, Laura Fionda, Alicia Alonso‐Jiménez, Robert Carlier, Ali Asghar Okhovat, Shahriar Nafissi, Atchayaram Nalini, Seena Vengalil, Kieren Hollingsworth, Chiara Marini‐Bettolo, Volker Straub, Giorgio Tasca, Jaume Bacardit, Jordi Díaz‐Manera, the Myo‐Guide Consortium   +58 more
wiley   +1 more source

Case Report: General Anesthetic Management for Laparoscopic Cholecystectomy in Paramyotonia Congenita

International Journal of Medical Students, 2020
Background: Paramyotonia congenita (PC) is a rare disorder affecting skeletal muscle. Patients with this non-progressive condition experience intermittent episodes of sustained myotonia.
Analise McGreal, Daniel Slagle, Andrew Dickens   +2 more
doaj   +1 more source

In vivo assessment of muscle membrane properties in myotonic dystrophy [PDF]

, 2016
INTRODUCTION: Myotonia in myotonic dystrophy types 1 (DM1) and 2 (DM2) is generally attributed to reduced chloride channel conductance. We used muscle velocity recovery cycles (MVRCs) to investigate muscle membrane properties in DM1 and DM2, with ...
Bostock, H, Boërio, D, Hanna, MG, Tan, SV, Turner, C, Z'Graggen, WJ   +5 more
core  

Bestimmung der Bindung von Trijodthyronin an Serumproteine mittels Dextran-Gel-Filtration [PDF]

, 1966
1. Es wird eine Methode zur gleichzeitigen Bestimmung des sog. freien und des proteingebundenen Anteils von in vitro zugesetztem L-Trijodthyronin-131Jod im Serum mittels Dextran-Gel-Filtration angegeben.
A. Cuarón, A. Vanotti, B. E. P. Murphy, B. E. P. Murphy, B. Shapiro, C. M. Blackburn, D. J. Godden, E. C. Albright, F. A. Horster, H. G. Heinze, H. Kutzim, H. Spitzy, J. Benotti, J. L. Rabinowitz, J. Robbins, K. Schwarz, K. Sterling, K. Sterling, K. Sterling, K. Sterling, M. A. Santos, M. Dubravcik, M. Green, M. L. Mitchell, M. L. Mitchell, M. W. Hamolsky, M. W. Hamolsky, N. D. Lee, N. Freinkel, O. R. Lowry, P. C. Scriba, R. Landgraf, R. W. Rawson, S. B. Barker, S. B. Barker, S. B. Barker, S. B. Barker, T. Friis, W. Keiderling, W. Stumpf, W. T. Salter   +40 more
core   +1 more source

MYL1‐Related Congenital Myopathy: Clinical, Genetic and Pathological Insights

Neuropathology and Applied Neurobiology, Volume 51, Issue 3, June 2025.
This study describes two individuals with severe congenital myopathy caused by novel biallelic MYL1 variants. Detailed muscle analyses revealed selective type II fibre hypotrophy, aberrant myofibrillogenesis, and signs of autophagic impairment. The findings expand the clinical and pathological spectrum of MYL1‐related myopathy and suggest a broader ...
Irene Madrigal, Cristina Villar‐Vera, Gemma Arca, Jesica Expósito‐Escudero, Laia Rodríguez‐Revenga, Andres Piolatti‐Luna, Nuria Muelas, Roger Vilchez, Maria Ciutad Celdran, Anna Codina, Berta Estévez‐Arias, Laura Carrera‐Garcia, Carlos Ortez, Leonardo Rodriguez‐Carunchio, Giorgia Sebastiani, Inmaculada Azorin, Andrés Nascimento, Cristina Jou, Juan Jesus Vilchez, Daniel Natera‐de Benito   +19 more
wiley   +1 more source

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker. [PDF]

, 1996
Missense mutations in the skeletal muscle Na+ channel alpha subunit occur in several heritable forms of myotonia and periodic paralysis. Distinct phenotypes arise from mutations at two sites within the III-IV cytoplasmic loop: myotonia without weakness ...
Brown, RH, Cannon, SC, Hayward, LJ
core  

Modulation of the slow/common gating of CLC channels by intracellular cadmium. [PDF]

, 2015
Members of the CLC family of Cl(-) channels and transporters are homodimeric integral membrane proteins. Two gating mechanisms control the opening and closing of Cl(-) channels in this family: fast gating, which regulates opening and closing of the ...
Chen, Tsung-Yu, Tsai, Ming-Feng, Yu, Wei-Ping, Yu, Yawei   +3 more
core   +1 more source

Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia

European Journal of Neurology, Volume 32, Issue 5, May 2025.
ABSTRACT Background This study aimed to determine the role of five new rare SCN4A variants suspected to cause paramyotonia or myotonic disorder. Methods Ten patients from seven families underwent clinical, neurophysiological, imaging, and muscle biopsy examinations.
Vesa Periviita, Roope Männikkö, Manu Jokela, Richa Sud, Michael G. Hanna, Bjarne Udd, Johanna Palmio   +6 more
wiley   +1 more source