Results 81 to 90 of about 21,194 (199)

Distrofia muscular progressiva: alguns aspectos do diagnõstico diferencial

Arquivos de Neuro-Psiquiatria, 1960
The authors call attention to some clinical entities which are less known and more difficult to recognize and with which differential diagnosis of progressive muscular dystrophy should be made (infantile spinal muscular atrophy, amyotonia congenita ...
Sylvio Saraiva, Aron J. Diament, José Antonio Levy   +2 more
doaj   +1 more source

Knockdown of INPP5K compromises the differentiation of N2A cells

Frontiers in Molecular Neuroscience
Inositol polyphosphate 5-phosphatase K (INPP5K), also known as SKIP (skeletal muscle and kidney-enriched inositol phosphatase), is a cytoplasmic enzyme with 5-phosphatase activity toward phosphoinositides (PIs).
Annamaria Manzolillo, Lennart Gresing, Christian A. Hübner, Christian A. Hübner, Patricia Franzka   +4 more
doaj   +1 more source

Chiral Nanoparticles Suppress Inflammatory Infiltration to Promote Extracellular Matrix Remodeling for Ectopia Lentis Therapy

Advanced Science, Volume 13, Issue 58, 19 October 2026.
L‐cysteine‐configured chiral polyurethane nanoparticles suppress ocular inflammation and reduce extracellular matrix (ECM) degradation in ectopia lentis by regulating macrophages polarization and inhibiting nuclear factor kappa B signaling pathway. By promoting zonular fiber‐associated protein restoration and tissue repair, this minimally invasive ...
Yinuo Wen, Yan Yang, Haihan Gao, Yan Liu, Xinyue Wang, Linghao Song, Ruohong Li, Ao Miao, Jie Xu, Zhennan Zhao, Dan Li, Shenjie Peng, Linzhao Li, Min Zhang, Yonghang Liu, Liren Wang, Tianhui Chen, Yongxiang Jiang   +17 more
wiley   +1 more source

A Sri Lankan boy with Emery-Dreifuss muscular dystrophy 5 presenting during infancy with persistent transaminitis

BMC Pediatrics
Background Emery-Dreifuss muscular dystrophy is a rare muscular dystrophy characterised by muscle weakness, joint contractures, and cardiac involvement.
Sachith Mettananda, Thakshila Vipulanayake, Gihani Dineshika, Tharindi Suriapperuma, Manissha Rajeindran, Padmapani Padeniya   +5 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 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

Prevalence of Rare Diseases in Consanguineous Marriages: A Case of Ullrich Muscular Dystrophy in a Resource‐Limited Setting

Clinical Case Reports, Volume 14, Issue 10, October 2026.
Ullrich Muscular Dystrophy in Consanguineous Marriage. ABSTRACT In regions with high consanguinity, rare recessive disorders like Ullrich congenital muscular dystrophy (UCMD) may present at birth with hypotonia and respiratory distress. To enhance quality of life and prevent recurrence in future pregnancies, early recognition, genetic counseling, and ...
Kanza Farhan, Muhammad Burhan Tariq, Amna Farhan, Erma Khalid, Suhaira Hafeez Syed, Mohammed Hammad Jaber Amin   +5 more
wiley   +1 more source

Expression of COL6A1 in Tumor Matrix of Cholangiocarcinoma and Its Mechanism of Tumor Progression

Cancer Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background Cholangiocarcinoma (CCA), a malignant tumor originating from the bile duct epithelial cells, is characterized by aggressive invasion and poor prognosis. Abnormal remodeling of the tumor microenvironment plays a pivotal role in its disease progression.
Weibin Zhang, Chongshi Gao, Chongzhou Lan, Jia Dong, Boxing Xu, Yingmei Li, Jin Dai, Baitong Che, Cheng Li, Gang Dong, Yunfei Wu, Bo Li, Cheng Yang, Lingmei Kong   +13 more
wiley   +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

Quantitative Muscle MRI Fat Fraction as a Biomarker of Disease Severity in Mitochondrial Myopathies

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Quantitative muscle MRI is increasingly used to assess structural muscle damage in inherited myopathies, but its application in primary mitochondrial myopathies (PMM) has not been systematically evaluated in large cohorts. Because PMM are clinically and genetically heterogeneous, objective imaging biomarkers are needed to quantify ...
Ana Bermejo‐Moriñigo, Paloma Martín‐Jiménez, Violeta González‐Méndez, Laura Bermejo‐Guerrero, Luz Edith Ochoa, Cristina Martín‐Arriscado, Andrea Alcalá‐Galiano, Cristina Casado‐Pérez, María Navarro‐Riquelme, Rocío Garrido‐Moraga, Adrián González Quintana, Alberto Blázquez, Cristina Domínguez‐González   +12 more
wiley   +1 more source