U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination
You searched 8+ million full text articles

Try this search in 34+ million citations and abstracts

PMC Full-Text Search Results

Items: 1 to 20 of 425

1.
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy
Andreas Roos, Martin Häusler, Laxmikanth Kollipara, Ana Topf, Corinna Preusse, Rolf Stucka, Kay Nolte, Tim Strom, Riccardo Berutti, Xuehui Jiang, Randi Koll, Hanns Lochmüller, Sabine Maria Schacht, René P. Zahedi, Joachim Weis, Jan Senderek
J Neuromuscul Dis. 2024; 11(5): 1131–1137. Prepublished online 2024 Aug 7. Published online 2024 Sep 3. doi: 10.3233/JND-240050
PMCID:
PMC11380306
ArticlePDF–591K
2.
Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study
Lara Schlaffke, Robert Rehmann, Martijn Froeling, Anne-Katrin Güttsches, Matthias Vorgerd, Elena Enax-Krumova, Johannes Forsting
J Neuromuscul Dis. 2024; 11(5): 997–1009. Prepublished online 2024 Jul 13. Published online 2024 Sep 3. doi: 10.3233/JND-240053
PMCID:
PMC11380292
ArticlePDF–795K
3.
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data
N.M. van de Velde, Y.D. Krom, J. Bongers, R.J.A. Hoek, N.A. Ikelaar, M. van der Holst, K.J. Naarding, J.C. van den Bergen, E. Vroom, A. Horemans, J.G.M. Hendriksen, I.J.M. de Groot, S.L.S. Houwen-van Opstal, J.J.G.M. Verschuuren, H.A. van Duyvenvoorde, R.R. Snijder, E.H. Niks
J Neuromuscul Dis. 2024; 11(5): 1095–1109. Prepublished online 2024 Jul 13. Published online 2024 Sep 3. doi: 10.3233/JND-240061
PMCID:
PMC11380288
ArticlePDF–345K
4.
Changes in Physiopathological Markers in Myotonic Dystrophy Type 1 Skeletal Muscle: A 3-Year Follow-up Study
Marie-Pier Roussel, Aymeric Ravel-Chapuis, Jonathan Gobin, Bernard J. Jasmin, Jean-Philippe Leduc-Gaudet, Cynthia Gagnon, Elise Duchesne
J Neuromuscul Dis. 2024; 11(5): 981–995. Prepublished online 2024 Jul 15. Published online 2024 Sep 3. doi: 10.3233/JND-230139
PMCID:
PMC11380274
ArticlePDF–411K
5.
The Role of Cognition, Affective Symptoms, and Apathy in Treatment Adherence with Noninvasive Home Mechanical Ventilation in Myotonic Dystrophy
Bettine A.H. Vosse, Jasmijn de Jong, Leandre A. la Fontaine, Corinne G.C. Horlings, Sander M.J. van Kuijk, Nicolle A.M. Cobben, Anne-Fleur Domensino, Caroline van Heugten, Catharina G. Faber
J Neuromuscul Dis. 2024; 11(5): 1123–1130. Prepublished online 2024 Jul 28. Published online 2024 Sep 3. doi: 10.3233/JND-240081
PMCID:
PMC11380258
ArticlePDF–215K
6.
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit
Kristina Kastreva, Teodora Chamova, Stanislava Blagoeva, Stoyan Bichev, Violeta Mihaylova, Stefanie Meyer, Rachel Thompson, Sylvia Cherninkova, Velina Guergueltcheva, Hanns Lochmuller, Ivailo Tournev
J Neuromuscul Dis. 2024; 11(5): 1011–1020. Prepublished online 2024 Jul 4. Published online 2024 Sep 3. doi: 10.3233/JND-230235
PMCID:
PMC11380250
ArticlePDF–193K
7.
Nociceptive Pain in Patients with Neuromuscular Disorders: A Cross-Sectional Clinical Study
Elena Sagerer, Corinna Wirner-Piotrowski, Marko Mijic, Marcela Arndt, Natalia Garcia-Angarita, Benedikt Schoser, Stephan Wenninger
J Neuromuscul Dis. 2024; 11(5): 1111–1122. Prepublished online 2024 Jul 1. Published online 2024 Sep 3. doi: 10.3233/JND-240068
PMCID:
PMC11380240
ArticlePDF–445K
8.
Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment
Avi Harazi, Lena Yakovlev, Nili Ilouz, Philipp Selke, Rudiger Horstkorte, Yakov Fellig, Olga Lahat, Tzuri Lifschytz, Nathalie Abudi, Rinat Abramovitch, Zohar Argov, Stella Mitrani-Rosenbaum
J Neuromuscul Dis. 2024; 11(5): 905–917. Prepublished online 2024 Jun 12. Published online 2024 Sep 3. doi: 10.3233/JND-240056
PMCID:
PMC11380236
ArticlePDF–854K
9.
Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT
Tiziana Lencioni, Virginia Bandini, Cristina Schenone, Maria Lagostina, Alessia Aiello, Angelo Schenone, Maurizio Ferrarin, Carlo Trompetto, Laura Mori, CMT-RF Study Group
J Neuromuscul Dis. 2024; 11(4): 815–828. Prepublished online 2024 Apr 26. Published online 2024 Jul 2. doi: 10.3233/JND-240006
PMCID:
PMC11307089
ArticlePDF–586K
10.
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene
Michela Bisciglia, Hazim Kadhim, Sophie Lecomte, Isabelle Vandernoot, Laurence Desmyter, Gauthier Remiche
J Neuromuscul Dis. 2024; 11(4): 871–875. Prepublished online 2024 May 22. Published online 2024 Jul 2. doi: 10.3233/JND-230020
PMCID:
PMC11307083
ArticlePDF–432K
11.
Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties: Insights from Clinical Practice
Sam Geuens, Nathalie Goemans, Jurgen Lemiere, Nathalie Doorenweerd, Liesbeth De Waele
J Neuromuscul Dis. 2024; 11(4): 791–799. Prepublished online 2024 Apr 29. Published online 2024 Jul 2. doi: 10.3233/JND-230251
PMCID:
PMC11307073
ArticlePDF–537K
12.
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment
Claudio Semplicini, Michela Agostini, Cinzia Andrigo, Stefano Masiero, Francesco Piccione, Gianni Sorarù
J Neuromuscul Dis. 2024; 11(4): 877–881. Prepublished online 2024 May 22. Published online 2024 Jul 2. doi: 10.3233/JND-240021
PMCID:
PMC11307065
ArticlePDF–374K
13.
Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND)
Sam Geuens, Nathalie Goemans, Jurgen Lemiere, Nathalie Doorenweerd, Liesbeth De Waele
J Neuromuscul Dis. 2024; 11(4): 801–814. Prepublished online 2024 May 9. Published online 2024 Jul 2. doi: 10.3233/JND-240012
PMCID:
PMC11307047
ArticlePDF–158K
14.
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy
Dilek Cavusoglu, Beril Talim, Gazanfer Ekinci, Haluk Topaloglu
J Neuromuscul Dis. 2024; 11(4): 883–887. Prepublished online 2024 May 11. Published online 2024 Jul 2. doi: 10.3233/JND-240022
PMCID:
PMC11307026
ArticlePDF–328K
15.
Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A Systematic Review
Elisabetta Pupillo, Ammar Al-Chalabi, Serena Sassi, Emilio Arippol, Lorenzo Tinti, Eugenio Vitelli, Massimiliano Copetti, Maurizio A. Leone, Elisa Bianchi
J Neuromuscul Dis. 2024; 11(4): 749–765. Prepublished online 2024 May 14. Published online 2024 Jul 2. doi: 10.3233/JND-230217
PMCID:
PMC11307009
ArticlePDF–541K
16.
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis
E. Landfeldt, A. Alemán, S. Abner, R. Zhang, C. Werner, I. Tomazos, N. Ferizovic, H. Lochmüller, J. Kirschner
J Neuromuscul Dis. 2024; 11(3): 579–612. Prepublished online 2024 Apr 22. Published online 2024 Apr 30. doi: 10.3233/JND-230220
Correction in:
J Neuromuscul Dis. 2025 Jan-Feb; 12(1): 22143602251320076.
PMCID:
PMC11091649
ArticlePDF–1.2M
17.
Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review
Nicoline Voet, Ronne Pater, Joana Garmendia, Andone Sistiaga, Garazi Labayru, Benjamin Gallais, Ingrid de Groot, Samar Muslemani, Cynthia Gagnon, Christopher Graham
J Neuromuscul Dis. 2024; 11(3): 567–577. Prepublished online 2024 Mar 19. Published online 2024 Apr 30. doi: 10.3233/JND-240003
PMCID:
PMC11091642
ArticlePDF–134K
18.
Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study
Stefan Nicolau, Jyoti Malhotra, Maryann Kaler, Pamela Magistrado-Coxen, Megan A. Iammarino, Natalie F. Reash, Emma C. Frair, Saranga Wijeratne, Benjamin J. Kelly, Peter White, Linda P. Lowes, Megan A. Waldrop, Kevin M. Flanigan
J Neuromuscul Dis. 2024; 11(3): 679–685. Prepublished online 2024 Mar 8. Published online 2024 Apr 30. doi: 10.3233/JND-230107
PMCID:
PMC11091625
ArticlePDF–844K
19.
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
Berta Estévez-Arias, Leslie Matalonga, Loreto Martorell, Anna Codina, Carlos Ortez, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Janet Hoenicka, Cristina Jou, Francesc Palau, Sergi Beltran, Hanns Lochmüller, Ana Töpf, Andrés Nascimento, Daniel Natera-de Benito
J Neuromuscul Dis. 2024; 11(3): 647–653. Prepublished online 2024 Mar 10. Published online 2024 Apr 30. doi: 10.3233/JND-230216
PMCID:
PMC11091619
ArticlePDF–1.3M
20.
Stride Velocity 95th Centile Detects Decline in Ambulatory Function Over Shorter Intervals than the 6-Minute Walk Test or North Star Ambulatory Assessment in Duchenne Muscular Dystrophy
Michael Rabbia, Maitea Guridi Ormazabal, Hannah Staunton, Klaas Veenstra, Damien Eggenspieler, Mélanie Annoussamy, Laurent Servais, Paul Strijbos
J Neuromuscul Dis. 2024; 11(3): 701–714. Prepublished online 2024 Apr 16. Published online 2024 Apr 30. doi: 10.3233/JND-230188
PMCID:
PMC11091611
ArticlePDF–503K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Search details

See more...

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center