Results 61 to 70 of about 1,644 (145)

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, Volume 98, Issue 6, Page 1335-1351, December 2025.
[Color figure can be viewed at www.annalsofneurology.org] Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

Lysine Acetyltransferase 6 in Health and Disease

MedComm, Volume 6, Issue 12, December 2025.
KAT6A and its paralog KAT6B have emerged as druggable targets for the treatment of malignancies, especially for breast cancer. Recent progress in drug discovery has promoted the development of dual inhibitors targeting KAT6A and KTA6B, which shows potent antitumor efficacy and manageable toxicity.
Yujing Tan, Jiani Wang, Fei Ma
wiley   +1 more source

Comparison of double bundle semitendinosus technique and pedicled quadriceps technique in patellar instability

Knee Surgery, Sports Traumatology, Arthroscopy, Volume 33, Issue 11, Page 3762-3771, November 2025.
Abstract Purpose To compare clinical and functional outcomes of medial patellofemoral ligament (MPFL) reconstruction using a minimally invasive pedicled quadriceps tendon (QT) or patella double tunnel technique with semitendinosus tendon (ST) graft in patients with recurrent patella dislocation.
Tayfun Özel, Semih Yaş, Hayati Hürol Türkoğlu, Asim Ahmadov, Muhammet Baybars Ataoğlu, Ulunay Kanatlı   +5 more
wiley   +1 more source

Nail-Patella Syndrome [PDF]

Proceedings of the Royal Society of Medicine, 1963
J A Fixsen, D R Sweetnam
openaire   +4 more sources

Triangular Lunulae in Papillon–Lefèvre Syndrome: A Case Report

Clinical Case Reports
Triangular lunulae, typically associated with Nail–Patella Syndrome, may also present in other syndromes, as seen in this case. Papillon–Lefèvre syndrome is a rare genodermatosis linked to significant morbidity.
Zarak Khan Shiraz, Fahad Faizullah, Qaisar Ali Khan, Irfan Ullah, Mehran Khan, Bader Semakieh, Zain Ul Islam, Ravina Verma   +7 more
doaj   +1 more source

Isolated loss of inferior pubic ramus: a case report

Journal of Medical Case Reports, 2008
Introduction It has been stated that regulation of the development of the iliac bone is different from that of the ischium and pubis. There are well-known clinical syndromes concerned with hypoplasia of ischiopubic bone, such as small patella syndrome ...
Saber Aly
doaj   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

Type III collagen disorders: A case report and review of literature

Indian Journal of Pathology and Microbiology, 2016
Collagen type III is a normal component of interstitium and blood vessels. Collagenofibrotic glomerulopathy (CG) and nail patella syndrome (NPS) are the diseases of abnormal type III collagen deposition.
A Anitha, Mahesha Vankalakunti, Vishwanath Siddini, Kishore Babu, Ravishankar Bonu, Sudarshan Ballal   +5 more
doaj   +1 more source

Abstracts From PVRI 2026 Dublin

Pulmonary Circulation, Volume 16, Issue 2, April 2026.
wiley   +1 more source