Results 81 to 90 of about 13,407 (248)

Mitochondrial myopathy and comorbid major depressive disorder. effectiveness of dTMS on gait and mood symptoms [PDF]

, 2015
Background: Mitochondrial myopathies (MMs) often present with leukoencephalopathy and psychiatric symptoms, which do not respond to or worsen with psychiatric drugs.
Angeletti, Gloria, Brugnoli, Roberto, Callovini, G, Dacquino, Claudia, Danese, E, DEL CASALE, Antonio, Ferracuti, Stefano, Ferri, Vr, Gentile, Giovanna, Girardi, Paolo, Janiri, D, Kotzalidis, Georgios, Manfredi, G, Raccah, Rn, Rapinesi, Chiara, Scatena, P, Serata, D, Simmaco, Maurizio, Zangen, A   +18 more
core   +1 more source

Reduced Mitochondrial Adenine Nucleotide Translocase 1 (ANT1) Correlates With Aging‐Associated Airway Remodeling

Aging Cell, Volume 24, Issue 12, December 2025.
Adenine nucleotide translocase 1 (ANT1), a mitochondrial ATP transporter, is decreased in the lung epithelium of aged adults and aged mice correlating to pathogenic airway changes. Loss of ANT1 correlates with increased cellular senescence and changes in COL8A1 in the airway epithelium of the lung.
Roshani Jha, Jian Shi, Maggie J. Sedgwick, Justin Sui, Timothy E. Corcoran, Corrine R. Kliment   +5 more
wiley   +1 more source

Ophthalmoplegic Migraine and Infundibular Dilatation of a Cerebral Artery [PDF]

, 2008
Ophthalmoplegic migraine (OM) is a childhood disorder of uncertain etiology manifesting recurrent unilateral headache associated with a transitory oculomotor (usually IIIrd nerve) palsy.
O'Hara, Wong, Mark, Prats, Ramelli, Doran, Lance, Van der Dussen, Bharucha, Headache Classification Subcommittee. International Headache Society, Carlow, Satoh   +11 more
core   +2 more sources

Genetic and Structural Variations in Czech Patients With Congenital Myopathies

Clinical Genetics, Volume 108, Issue 6, Page 678-683, December 2025.
We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Jana Zídková, Barbora Lauerová, Lívie Mensová, Tereza Kramářová, Johana Kopčilová, Kamila Réblová, Magdaléna Soukup Vodičková, Martina Hujňáková, Jana Haberlová, Marie Rohlenová, Radim Mazanec, Jana Šoukalová, Renata Gaillyová, Emílie Vyhnálková, Miroslava Balaščaková, Pavlína Danhofer, Lenka Juříková, Dagmar Grečmalová, Andrea Gřegořová, Pavlína Plevová, Martina Langová, Tomáš Honzík, Martin Magner, Martina Klincová, Pavla Solařová, Mária Šenkeříková, Lenka Fajkusová   +26 more
wiley   +1 more source

Effectiveness of Pyridoxine and Pyridostigmine in the Treatment of Vincristine-Induced Bilateral Ptosis and External Ophthalmoplegia: A Case Report

Türk Oftalmoloji Dergisi, 2014
In this manuscript, we present the case of a patient with acute lymphoblastic leukemia who developed vincristine-induced bilateral ptosis and external ophthalmoplegia and who was treated successfully with pyridoxine and pyridostigmine.
Osman Okan Olcaysu, Ahmet Altun, Elif Olcaysu, Sertaç Argun Kıvanç, Zuhal Keskin Yıldırım   +4 more
doaj   +1 more source

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. [PDF]

, 2015
Hearing impairment is the second most prevalent clinical feature after optic atrophy in Dominant Optic Atrophy associated with mutations in the OPA1 gene.
Arslan, E, Biscaro, A, Cama, Elona, Caporali, L, Carelli, V., La Morgia, C, Liguori, R, Magnavita, V, Monteleone, A, Rossi, R, Santarelli, Rosamaria, Scimemi, Pietro, Valentino, Ml   +12 more
core   +3 more sources

Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling

Brain and Behavior, Volume 15, Issue 11, November 2025.
We report a 32‐year‐old female patient with SANDO syndrome (a subtype of mitochondrial encephalomyopathy), who carries two heterozygous POLG mutations: a novel c.3297G>C and a known c.1774C>T. The neuronal models expressing these mutations demonstrated mitochondrial dysfunction, thereby confirming their pathogenicity.
Fanjing Zhou, Jiang Chen, Tingzheng Zhang, Fengnan Niu, Jinglong Hu, Yun Xu, Meijuan Zhang   +6 more
wiley   +1 more source

Ophthalmic artery occlusion following facial sclerosing therapy

Journal of Ophthalmic & Vision Research, 2018
Purpose: To describe a case of ophthalmic artery occlusion and complete ophthalmoplegia after intralesional injection of a sclerosing agent into a subcutaneous hemangioma on the forehead. Case Report: A 16-year-old girl underwent direct injection of 3 mL
Alireza Dehghani, Leila Rezaei, Heshmatollah Ghanbari, Kobra Nasrollahi, Mehdi Tavakoli   +4 more
doaj   +1 more source

Endothelial dysfunction in a child with Pearson marrow-pancreas syndrome managed with Descemet stripping automated endothelial keratoplasty using a suture pull-through techniqu [PDF]

, 2019
A 4-year-old girl with a history of Pearson marrow-pancreas syndrome presenting with severe, progressive photophobia was found to have bilateral, diffuse corneal thickening and peripheral pigmentary retinopathy. She underwent Descemet stripping automated
Areaux, Raymond G., Jr., Berry, Susan, Halbach, Caroline S., Hou, Joshua H., Vadhul, Raghav   +4 more
core   +1 more source

Three and Four Courses of Radiation for Children With Recurrent Diffuse Intrinsic Pontine Glioma

Pediatric Blood &Cancer, Volume 72, Issue 11, November 2025.
ABSTRACT Purpose Re‐irradiation (RT2) for children with diffuse intrinsic pontine glioma (DIPG) is increasingly used upon recurrence; however, limited data are available for evaluating additional courses of radiotherapy (RT) for DIPG. The purpose of this case series was to report our institutional experience in treating patients with recurrent DIPG ...
Nisha Shariff, Anthony Lausch, Eric Bouffet, Derek S. Tsang   +3 more
wiley   +1 more source