Results 181 to 190 of about 163,750 (343)

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Long-Term Follow-Up for Child with Ataxia Telangiectasia Related Scoliosis Using Surface Topography: A Case Report. [PDF]

Reports (MDPI)
Wagner B, Thiessen A, Liu XC.
europepmc   +1 more source

Congenital Scoliosis [PDF]

Proceedings of the Royal Society of Medicine, 1910
openaire   +2 more sources

Zebrafish models of idiopathic scoliosis link cerebrospinal fluid flow defects to spine curvature

Science, 2016
Haiyun Gan, Jeong-Heon Lee, Jing Han, Zhiquan Wang, Scott M Riester, Jianji Chen, H. Zhou, Jinglong Wang, Honglian Zhang, Na Yang, Elizabeth W. Bradley, Thai H. Ho, Brian P. Rubin, Julia A. Bridge, S. Thibodeau, T. Ordog, Yue Chen, A. J. Wijnen, Andre M. Oliveira, R. Xu, J. Westendorf   +20 more
semanticscholar   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1306-1314, June 2026.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Long-Term Management of Adolescent Idiopathic Scoliosis in Adulthood: Clinical Challenges and Progress During the Critical Period of Pregnancy. [PDF]

Healthcare (Basel)
Hou Z, Wu J, Chen C, Lu H, Yang J, Han T.   +5 more
europepmc   +1 more source

Pre- and postsurgical anxiety and body perception: the significance of cognitive-behavioral therapy in scoliosis adolescents. [PDF]

BMC Musculoskelet Disord
Misterska E, Tomaszewski M, Marcinak-Stępak P, Głowacki M.   +3 more
europepmc   +1 more source

Idiopathic scoliosis [PDF]

Annals of Translational Medicine, 2020
openaire   +2 more sources

Utility of Far‐Field Potentials as a Biomarker of Neurodegeneration in Spinal Muscular Atrophy

Muscle &Nerve, Volume 73, Issue 6, Page 1089-1095, June 2026.
ABSTRACT Introduction/Aims Far field potentials (FFP) have been proposed as a reliable neurophysiological prognostic biomarker in amyotrophic lateral sclerosis (ALS). This study evaluated the utility of ulnar nerve FFP as a robust research biomarker of lower motor neuron degeneration in spinal muscular atrophy (SMA).
Aicee Dawn Calma, Nathan Pavey, Cláudia Santos Silva, Yukiko Tsuji, Amirul Ab Ghapar, Katrina Morris, Matthew C. Kiernan, Michelle A. Farrar, Parvathi Menon, Steve Vucic   +9 more
wiley   +1 more source

Radiological characteristics in coronal and sagittal planes and short-term postoperative outcomes in patients with lumbar disc herniation accompanied by sciatic scoliosis. [PDF]

Sci Rep
Yang J, Xie X, Sheng W, Guo H, Deng Q.
europepmc   +1 more source