Results 211 to 220 of about 31,520 (324)

ACTA1‐Related Adult‐Onset Scapuloperoneal Myopathy With Cores and Rods

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
We report a patient with an adult‐onset, slowly progressive, ACTA1‐related scapuloperoneal myopathy with cores and rods, determined by the heterozygous variant NM_001100.4:c.1001C > T, p.(Pro334Leu). The scapuloperoneal phenotype could represent a distinct subcategory, and the characterisation of this patient with a less severe, different clinical ...
Alexandru Caramizaru, Marion Onnée, Sergey Nikitin, Amelia Dobrescu, Gianmarco Severa, Aysylu Murtazina, Andoni Urtizberea, Jean‐Pascal Lefaucheur, Robert‐Yves Carlier, Corinne Metay, Edoardo Malfatti   +10 more
wiley   +1 more source

A comprehensive framework for the interpretation of TTN missense variants. [PDF]

Genome Med
Di Feo MF, Rees M, Lillback V, Kho AL, Meybatova A, Holt M, Jungbluth H, Muntoni F, Baranello G, Sarkozy A, Fiorillo C, Baratto S, Bruno C, Traverso M, Iacomino M, Pedemonte M, Brolatti N, Faravelli F, Zara F, Mandarà GML, Beggs AH, Genetti CA, Barraza-Flores P, Rodolico C, Messina S, Schnabel F, Balogh I, Szakszon K, Sarv S, Õunap K, Ricci FS, Mussa A, Malfatti E, Bertini ES, D'Amico A, Diodato D, Catteruccia M, Ravenscroft G, Johari M, Kurbatov SA, Chausova P, Murtazina A, Kuchina A, Shchagina O, Drakos M, Spilioti M, Evangeliou AE, Zaganas I, Zhong H, Luo S, Merlini L, Nguyen CT, Tasca G, Reeves T, Mörner S, Danielsson O, Udd B, T. T. N. study group, Gautel M, Savarese M.   +59 more
europepmc   +1 more source

Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1)

ChemMedChem, Volume 21, Issue 5, 13 March 2026.
DM1 is an RNA gain‐of‐function disease caused by CTG repeat expansion, producing toxic r(CUG)exp RNA that sequesters MBNL1 and impairs splicing. This review covers the field of CUG and CTG ligands identified or rationally designed as DM1 drug candidates, highlighting their molecular design, RNA‐ or DNA‐binding modes, in vitro affinities and ...
Camille Richagneux, Anton Granzhan
wiley   +1 more source

Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency. [PDF]

Orphanet J Rare Dis
Pugliese A, von Landenberg C, Gallizzi R, Migliorato A, Pierno S, Rodolico C, Kornblum C, Arena IG, Kunz WS, Reimann J, Toscano A, Musumeci O.   +11 more
europepmc   +1 more source

Table 1_Early muscle hypotonia as a potential marker for autism spectrum disorder: a systematic review.docx

Ting Zhang (102583), Jinying Wang (2038141), Zhenkun Cao (1814386), Yuhan Ma (5778359), Zhihai Lv (16011203)   +4 more
openalex   +1 more source

Mesenchymal Stem Cell‐Derived Apoptotic Micro‐Vesicles Repaired Sciatic Nerve Defect by Regulating Early Inflammatory Microenvironment and Promoting Angiogenesis

Advanced Healthcare Materials, Volume 15, Issue 10, 13 March 2026.
HUCMSC‐Apo‐mvs enhance peripheral nerve repair by modulating the inflammatory microenvironment (IME), primarily through coordinated actions on three functional cells. They recruit macrophages and promote their polarization from pro‐inflammatory M1 to anti‐inflammatory M2 phenotypes, increasing secretion of IL‐10 and VEGF.
Haolin Liu, Yiben Ouyang, Bo Wang, Xiaochun Zhang, Yanjun Guan, Ruichao He, Yuhui Cui, Junli Wang, Qianru Yao, Yixiao Tan, Xiwei Peng, Xing Xiong, Sice Wang, Dongdong Li, Haofeng Cheng, Tianqi Su, Xiaoyang Fu, Jinjuan Zhao, Mingqian Yu, Yi Wang, Jiang Peng, Yu Wang   +21 more
wiley   +1 more source

Fading Muscle and a Flaccid Bladder: Atonic Bladder in a Case of Myotonic Dystrophy-A Case Report. [PDF]

Ann Neurosci
Ravichandran PY, R K, Madhavan K.
europepmc   +1 more source

On the Generation of Rapid Eye Movement Sleep and the Reversal of Sleep-Related Hypotonia in Muscles of the Upper Airway

, 2018
Kevin P. Grace
openalex   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Acute Reversible Convergent Strabismus Following Accidental Lorazepam Ingestion in a Child: A Rare Ocular Manifestation of Benzodiazepine Toxicity. [PDF]

Cureus
El Athmani O, Debono L, Jeddi Y, Mekaoui N, Karboubi L.   +4 more
europepmc   +1 more source