Results 111 to 120 of about 260,514 (183)

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Proteomic Signatures of Noise‐Induced Hearing Loss in the Mouse Cochlea

Cell Biology International, Volume 50, Issue 10, October 2026.
ABSTRACT Hearing loss affects over 1.5 billion people worldwide and has substantial social, educational, and economic consequences. Although genetic studies have identified numerous hearing‐loss‐associated genes, the molecular changes accompanying noise‐induced hearing loss (NIHL) remain incompletely understood.
Ana Carla Batissoco, Danillo Alencar‐Coutinho, Ana Carolina Ferreira‐Scatone, Stella Diogo‐Cavassana, Jeanne Oiticica, Karina Lezirovitz, Ricardo Ferreira Bento   +6 more
wiley   +1 more source

PARMAKLARDA EKSTANSOR GÜÇ KAYBI İLE KLİNİĞE YANSIYAN BİR NEMALİN MİYOPATİ OLGUSU

Cerrahpaşa Medical Journal, 2014
Background.- Wide spectrum of genetic defects may lead to congenital myopathies. Thus, clinical features such as age of onset, distribution of weakness and other associating diseases, may very considerably.Diagnostic difficulties are encountered with ...
Şevki ŞAHİN, Mehmet AKALIN, Meral KIZILTAN   +2 more
doaj  

From Genomics to Precision Cardiology: A Comprehensive Review of Clinical Applications and Challenges in Cardiovascular Diseases

Clinical Cardiology, Volume 49, Issue 10, October 2026.
Genomic medicine in cardiovascular care is progressing from established diagnostic applications toward integrated risk prediction, multiomics, and emerging therapeutic strategies. ABSTRACT Background Genomic cardiology is an emerging field integrating genetic, molecular, imaging, and digital health data to improve cardiovascular disease (CVD ...
Neda Mohsen‐Pour, Shiva Esmaeili, Aydin Feyzi, Ali Sharafi, Majid Maleki, Samira Kalayinia   +5 more
wiley   +1 more source

Troponin Variants in Congenital Myopathies: How They Affect Skeletal Muscle Mechanics. [PDF]

Int J Mol Sci, 2021
van de Locht M, Borsboom TC, Winter JM, Ottenheijm CAC.   +3 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

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study. [PDF]

Acta Neuropathol Commun, 2022
Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E.   +33 more
europepmc   +1 more source

Current advances in 2025: A critical review of selected topics by the Association for the Advancement of Blood and Biotherapies (AABB) Clinical Transfusion Medicine Committee

Transfusion, EarlyView.
Nabiha H. Saifee, Jennifer Andrews, Mary Berg, Stella T. Chou, Mischa Covington, Elizabeth P. Crowe, Ruchika Goel, Juliana A. Guarente, Tina Ipe, Jeremy W. Jacobs, Jessica Jacobson, Cyril Jacquot, Jenna Khan, Thane A. Kubik, Theodros Mamo, Michael F. Murphy, Kerry O'Brien, Monica B. Pagano, Anil K. Panigrahi, Jacqueline N. Poston, Scott E. Potter, Simon J. Stanworth, Moritz Stolla, Alyssa Ziman, Ryan A. Metcalf   +24 more
wiley   +1 more source