PMC Articles for MedGen (Select 68665) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Select item 116512181.

RNA mis‐splicing in children with congenital myotonic dystrophy is associated with physical function

Julia M. Hartman, Kobe Ikegami, Marina Provenzano, Kameron Bates, Amanda Butler, Aileen S. Jones, Kiera N. Berggren, Jeanne Dekdebrun, Marnee J. McKay, Jennifer N. Baldwin, Kayla M. D. Cornett, Joshua Burns, Michael Kiefer, Nicholas E. Johnson, Melissa A. Hale, the DMCRN Consortium

Ann Clin Transl Neurol. 2024 Dec; 11(12): 3175–3191. Published online 2024 Oct 25. doi: 10.1002/acn3.52224

PMCID:: PMC11651218

Abstract Article PDF–7.6M

Select item 115860062.

Preclinical study of the antimyotonic efficacy of safinamide in the myotonic mouse model

Ileana Canfora, Concetta Altamura, Jean-Francois Desaphy, Brigida Boccanegra, Silvia Vailati, Carla Caccia, Elsa Melloni, Gloria Padoani, Annamaria De Luca, Sabata Pierno

Neurotherapeutics. 2024 Oct; 21(6): e00455. Published online 2024 Sep 24. doi: 10.1016/j.neurot.2024.e00455

PMCID:: PMC11586006

Abstract Article PDF–959K

Select item 115565263.

Chapter 4 Periodic Paralysis

Stephen C. Cannon

Handb Clin Neurol. Author manuscript; available in PMC 2024 Nov 12.

Published in final edited form as: Handb Clin Neurol. 2024; 203: 39–58. doi: 10.1016/B978-0-323-90820-7.00002-1

PMCID:: PMC11556526

Abstract Article PDF–1.4M

Select item 115292894.

Latent factors underlying the symptoms of adult-onset myotonic dystrophy type 1 during the clinical course

Yanan Zhang, Bailey Wallace, Bo Cai, Nicholas Johnson, Emma Ciafaloni, Yedatore Swamy Venkatesh, Christina Westfield, Suzanne McDermott

Orphanet J Rare Dis. 2024; 19: 409. Published online 2024 Nov 1. doi: 10.1186/s13023-024-03359-8

PMCID:: PMC11529289

Abstract Article PDF–1.4M

Select item 115030965.

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

Mridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash, Pilar Marti, Thomas Robertson, Juan Vilchez, Anita Cairns, Elizabeth Harris, Chiara Marini-Bettolo, Khalid Hundallah, Amal M Alhashem, Mohammed Al-Owain, Reza Maroofian, Gianina Ravenscroft, Volker Straub

J Med Genet. 2024 Aug; 61(10): e109970. Published online 2024 Aug 28. doi: 10.1136/jmg-2024-109970

PMCID:: PMC11503096

Abstract Article PDF–10M

Select item 114772336.

Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy

Sören Janßen, Leoni S. Erbe, Moritz Kneifel, Matthias Vorgerd, Kristina Döring, Krzysztof P. Lubieniecki, Joanna M. Lubieniecka, Wanda M. Gerding, Nicolas Casadei, Anne-Katrin Güttsches, Christoph Heyer, Thomas Lücke, Hoa Huu Phuc Nguyen, Cornelia Köhler, Sabine Hoffjan

Int J Mol Sci. 2024 Oct; 25(19): 10867. Published online 2024 Oct 9. doi: 10.3390/ijms251910867

PMCID:: PMC11477233

Abstract Article PDF–9.1M

Select item 114617847.

BK channels promote action potential repolarization in skeletal muscle but contribute little to myotonia

Chris Dupont, Brianna Blake, Andrew A. Voss, Mark M. Rich

Pflugers Arch. 2024; 476(11): 1693–1702. Published online 2024 Aug 16. doi: 10.1007/s00424-024-03005-z

PMCID:: PMC11461784

Abstract Article PDF–2.0M

Select item 113954468.

The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania

Sofya A. Ionova, Aysylu F. Murtazina, Andrey A. Marakhonov, Olga A. Shchagina, Nina V. Ryadninskaya, Inna S. Tebieva, Vitaly V. Kadyshev, Artem O. Borovikov, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko

Int J Mol Sci. 2024 Sep; 25(17): 9734. Published online 2024 Sep 9. doi: 10.3390/ijms25179734

PMCID:: PMC11395446

Abstract Article PDF–1.4M

Select item 113951429.

The Accordion Zebrafish tq206 Mutant in the Assessment of a Novel Pharmaceutical Approach to Brody Myopathy

Eylem Emek Akyürek, Francesca Greco, Chiara Tesoriero, Francesco Dalla Barba, Marcello Carotti, Giulia Gorni, Dorianna Sandonà, Andrea Vettori, Roberta Sacchetto

Int J Mol Sci. 2024 Sep; 25(17): 9229. Published online 2024 Aug 25. doi: 10.3390/ijms25179229

PMCID:: PMC11395142

Abstract Article PDF–3.9M

Select item 1134059610.

Msi2 enhances muscle dysfunction in a myotonic dystrophy type 1 mouse model

Maria Sabater-Arcis, Nerea Moreno, Teresa Sevilla, Manuel Perez Alonso, Ariadna Bargiela, Ruben Artero

Biomed J. 2024 Aug; 47(4): 100667. Published online 2023 Oct 4. doi: 10.1016/j.bj.2023.100667

PMCID:: PMC11340596

Abstract Article PDF–12M

Select item 1123574711.

Contractile properties and magnetic resonance imaging‐assessed fat replacement of muscles in myotonia congenita

Laura Nørager Jacobsen, Mads Godtfeldt Stemmerik, Sofie Vinther Skriver, Jonas Jalili Pedersen, Nicoline Løkken, John Vissing

Eur J Neurol. 2024 Apr; 31(4): e16207. Published online 2024 Jan 25. doi: 10.1111/ene.16207

PMCID:: PMC11235747

Abstract Article PDF–8.0M

Select item 1118959512.

Epidemiología genómica de los sublinajes δ del virus SARS-CoV-2 de la segunda ola de COVID en Antioquia en el 2021

Cristian Arbey Velarde, Uriel Hurtado, Andrés Cardona, Celeny Ortiz, Idabely Betancur

Biomedica. 2024 Mar; 44(1): 54–66. Spanish. Published online 2024 Mar 31. doi: 10.7705/biomedica.6862

PMCID:: PMC11189595

Abstract Article PDF–649K

Select item 1114560713.

Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia

Mariagrazia Talarico, Francesco Fortunato, Audrey Labalme, Louis Januel, Nicolas Chatron, Damien Sanlaville, Ilaria Sammarra, Monica Gagliardi, Radha Procopio, Paola Valentino, Grazia Annesi, Gaetan Lesca, Antonio Gambardella

Epilepsia Open. 2024 Jun; 9(3): 951–959. Published online 2024 Mar 27. doi: 10.1002/epi4.12920

PMCID:: PMC11145607

Abstract Article PDF–8.4M

Select item 1109161914.

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

Abstract Article PDF–1.3M

Select item 1109155915.

A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia

Carmen Campanale, Paola Laghetti, Ilaria Saltarella, Concetta Altamura, Eleonora Canioni, Emanuele Iosa, Lorenzo Maggi, Raffaella Brugnoni, Paolo Tacconi, Jean-François Desaphy

J Neuromuscul Dis. 2024; 11(3): 725–734. Prepublished online 2024 Mar 1. Published online 2024 Apr 30. doi: 10.3233/JND-230134