Results 121 to 130 of about 51,867 (216)

Autoportrait de Duchenne de Boulogne avec son patient : À droite, contraction électrique légère du sourcilier : douleur à gauche, abaissement spasmodique du sourcil en masse, occasionné par l’impression de la lumière Figure 27 du Mécanisme de la physionomie humaine de Duchenne de Boulogne, planche de l’album personnel de Duchenne

Épreuve sur papier salé avec couche protectrice d’après un négatif sur verre au collodion, 23,1 × 16,8 cmEn 1856, le docteur Duchenne de Boulogne sollicite Adrien Tournachon pour illustrer son ouvrage.
Adrien Tournachon et Dr Duchenne de Boulogne
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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

Preparing Genetic Counselors for Advocacy Partnerships: A Novel Internship Model

Journal of Genetic Counseling, Volume 35, Issue 5, October 2026.
ABSTRACT Patient advocacy organizations (PAOs) and genetic counseling have expanded in tandem with the growth of precision medicine. Genetic counseling and PAOs share important goals related to advancing genomic medicine, creating novel possibilities for synergistic collaboration, especially as the sheer number of PAOs focused on genetic conditions ...
Marin Kalista, Lisa Jay Kessler, Deborah Requesens, Kathleen D. Valverde, Rebecca Mueller   +4 more
wiley   +1 more source

Teaching Cell and Gene Therapy in Genetic Counseling Programs: Survey Findings and Suggested Practical Resources for Integration

Journal of Genetic Counseling, Volume 35, Issue 5, October 2026.
ABSTRACT As cell and gene therapies (CGTs) advance through clinical trials into clinical practice, it becomes increasingly important for genetic counselors (GCs) to understand these therapeutics to discuss them with patients. Despite the apparent need for GCs to obtain CGT‐related education, little is known about the training GCs receive on CGT topics ...
Mariel Sebby, Lily McConachie, Leah Wetherill, Paula Delk, Emily L. Hopewell   +4 more
wiley   +1 more source

Needs, Challenges, and Opportunities for Genetic Counselors in Vietnam: A Qualitative Interview Study With Healthcare Leaders and Genetics Professionals

Journal of Genetic Counseling, Volume 35, Issue 5, October 2026.
ABSTRACT In Vietnam, access to genetic testing has expanded rapidly, but the genetic counseling needed to translate genetic testing results into informed healthcare decisions remains limited. Currently, genetic counseling is provided by physicians or PhD‐trained laboratory geneticists in Vietnam; there are no Master's‐level trained genetic counselors ...
Mai Ly Tran Burke, Peter James B. Abad, Basma M'Barek, Angelica Michelle Raney, Janine S. Bruce, Sylvia Bereknyei Merrell, Hetanshi Naik, Kelly E. Ormond   +7 more
wiley   +1 more source

Non-operative treatment for perforated gastro-duodenal peptic ulcer in Duchenne Muscular Dystrophy: a case report

BMC Surgery, 2004
Background Clinical characteristics and complications of Duchenne muscular dystrophy caused by skeletal and cardiac muscle degeneration are well known. Gastro-intestinal involvement has also been recognised in these patients.
Wever Jan, Van Royen Barend J, Oddens Jorg R, Brinkman Justus-Martijn, Olsman Jan G   +4 more
doaj  

Posttranslational Modifications of p62/SQSTM1 in Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Schematic illustration of p62 as a posttranslational modifications (PTMs)‐programmed integrator in homeostasis, pathogenesis, and therapeutic targeting. (Left) Homeostasis: In physiological states, p62, through various PTMs such as phosphorylation, ubiquitination, and acetylation, coordinates essential cellular functions.
Weikai Wang, Xin Jiang, Runing Qiu, Chandra Sugiarto Wijaya, Miaoqin Chen, Jin Wang, Liyuan Zhu, Hongchuan Jin, Lifeng Feng   +8 more
wiley   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, Volume 46, Issue 11, Page 1732-1745, October 2026.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Small Proteoglycans, Big Impact: Decorin, Biglycan, and Asporin in Musculoskeletal Tissue Health and Disease

Proteoglycan Research, Volume 4, Issue 4, October 2026.
ABSTRACT The extracellular matrix (ECM) is a dynamic and information‐rich network that integrates structural support with biochemical and mechanical signaling. Among its key regulatory components are the Small Leucine‐Rich Proteoglycans (SLRPs), a family of matrix molecules that coordinate extracellular architecture with cell signaling.
Alessandra Leone, Zsuzsa Jenei‐Lanzl, Frank Zaucke   +2 more
wiley   +1 more source

Cardiac resynchronization therapy in a young patient with Duchenne muscular dystrophy

, 2015
Tamami Kono,1 Akiyoshi Ogimoto,1 Kazuhisa Nishimura,1 Toshihiro Yorozuya,2 Takafumi Okura,1 Jitsuo Higaki1 1Department of Cardiology, Pulmonology, Hypertension and Nephrology, 2Department of Anesthesiology and Resuscitology, Ehime University Graduate ...
Nishimura K, Kono T, Okura T, Ogimoto A, Yorozuya T, Higaki J   +5 more
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