Results 231 to 240 of about 304,862 (304)

Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System

Annals of Neurology, Volume 100, Issue 4, Page 709-736, October 2026.
Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti, Nicolas R. Barthélemy, Kanta Horie, Cindy V. Ly, Kaleigh F. Roberts, Srinivas Koutarapu, Richard J. Perrin, Erin E. Franklin, Chiara Pedicone, Joshua Orrick, Justin Melendez, Timothy M. Miller, Chihiro Sato, Nupur Ghoshal, Alison M. Goate, Celeste M. Karch, Randall J. Bateman, Soumya Mukherjee   +17 more
wiley   +1 more source

Improving Nocturnal Non-Invasive Positive Pressure Support Adherence in Children and Young Adults With Duchenne Muscular Dystrophy. [PDF]

Pediatr Pulmonol
Pascoe JE, Gurbani N, Ignatiuk D, Grad C, Simmons DM, Sketch M, Rolsen O, Mullen L, Schuler CL, Sawnani H.   +9 more
europepmc   +1 more source

Navigating the Prescription Drug Information System

Clinical Pharmacology &Therapeutics, Volume 120, Issue 4, Page 855-870, October 2026.
Information on new prescription drugs is increasingly complex and fragmented, posing challenges for healthcare professionals, patients, and payers. Clinicians require concise, actionable guidance to support prescribing decisions, while patients seek to balance benefits and harms when making decisions aligned with their treatment goals.
Irina V. Wang, Courtney Davis, Robin Forrest, Avi Cherla, Maximilian Siebert, Janice Cowden, Sophia Walker, Tamar Krishnamurti, Florence T. Bourgeois, Steven Woloshin, Anita K. Wagner, Huseyin Naci   +11 more
wiley   +1 more source

Downstream Pathways of Dystrophin Deficiency in Duchenne Muscular Dystrophy: Implications for Muscle Degeneration and Regeneration. [PDF]

J Cachexia Sarcopenia Muscle
Epis R, Rovetta G, Ferrari G, Bonfanti C, Careccia G, Messina G.   +5 more
europepmc   +1 more source

MicroRNA–mRNA Networks in Skeletal Muscle of Tailored Pig Models for Dystrophinopathies

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X‐linked dystrophinopathies caused by mutations in the dystrophin (DMD) gene. A common DMD‐causing mutation in humans is exon 52 deletion (DMDΔ52), which disrupts the reading frame and abolishes dystrophin expression.
Sarah Reschke, Alexander Graf, Frieder Hadlich, Florian Jaudas, Thomas Fröhlich, Michael Stirm, Nikolai Klymiuk, Stefan Krebs, Eckhard Wolf, Asghar Ali   +9 more
wiley   +1 more source

Preclinical efficacy of a gene therapy for <i>CHKB</i>-mediated muscular dystrophy. [PDF]

Mol Ther Adv
Tavasoli M, Alkandari M, Dorighello G, Devitt J, Hagerty L, Damsker J, Hoffman EP, McMaster CR.   +7 more
europepmc   +1 more source

Genetic and Pharmacologic Inhibition of Myostatin Restores Muscle Mass in a Dynamin 2‐Related Centronuclear Myopathy Mouse Model

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Autosomal dominant centronuclear myopathy (ADCNM), most commonly caused by mutations in the dynamin 2 (DNM2) gene, is a rare congenital myopathy characterized by progressive muscle weakness and atrophy. Myostatin, a key negative regulator of skeletal muscle mass, has shown therapeutic potential in several models of neuromuscular ...
Durieux Anne‐Cécile, Arnould David, Velarde Mathias, Allibert Valentine, Paret Chloé, Debelley Quentin, Kizilkilic Esra, Chambon Sidney, Girard Emmanuelle, Collin Louise, Gensel Alexandre, Castells Josiane, Pasternack Aja, Bowen Maximilien, Morel Baptiste, Hourdé Christophe, Laurent Schaeffer, Ritvos Olli, Bitoun Marc, Mounier Rémi, Freyssenet Damien   +20 more
wiley   +1 more source

The Economic Burden of Duchenne Muscular Dystrophy: A Systematic Review. [PDF]

Pharmacoeconomics
Landfeldt E, Åberg M, Bello L, Deroo V, Born AP, Giusti S, Ekström AB.   +6 more
europepmc   +1 more source

Assessment of muscle damage in patients with advanced Duchenne muscular dystrophy based on serum creatinine and the height-to-creatinine ratio. [PDF]

Front Neurol
Wan B, Li H, Shao J, Gao T, Shi Y, Sha C, Yu X.   +6 more
europepmc   +1 more source

Concurrent Treatment With Lorlatinib and Dinutuximab Beta Induced Acute Gastric Dilation in a Pediatric Patient With Neuroblastoma

Pediatric Blood &Cancer, Volume 73, Issue 10, October 2026.
Suna Lin, Linjie Li, JiJun Chen, Zhaokun Tao, Lifeng Zhang, Junqing Mao, Jinhu Wang   +6 more
wiley   +1 more source