Results 61 to 70 of about 13,407 (248)

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations

Clinical Genetics, Volume 109, Issue 2, Page 356-362, February 2026.
Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Reihaneh Khorasanian, Mariasavina Severino, Morteza Doustmohammadi, Francesca Madia, Siddharth Srivastava, Aisling Quinlan, Dario Paladini, Federico Zara, Marcello Scala   +11 more
wiley   +1 more source

An Atypical Presentation of Guillain-Barré Syndrome: The Miller Fisher Variant

Annals of Internal Medicine: Clinical Cases
Miller Fisher syndrome (MFS), a rare variant of Guillain–Barré syndrome, presents as a triad of ophthalmoplegia, ataxia, and areflexia. This report presents a case of MFS with an atypical presentation, marked by left-sided external ophthalmoplegia, left ...
Danish Ahmed, Maryam Yasir Aldabsa, Saria Gouher   +2 more
doaj   +1 more source

Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]

, 2019
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria, Domínguez González, Cristina, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge M., Hernández Laín, Aurelio, Hernández Voth, Ana R., Paradas, Carmen, Rivas, Eloy, Sayas Catalán, Javier   +9 more
core   +1 more source

Add‐On Telitacicept Significantly Improves Outcome of Patients With Refractory Ocular Myasthenia Gravis a Real‐World Case Series

Brain and Behavior, Volume 16, Issue 1, January 2026.
6/7 patients achieved CMI by the third follow‐up, sustained to the fourth follow‐up, and 4/6 reached MSE by the fifth follow‐up. First real‐world evidence of adding telitacicept efficacy in refractory ocular MG symptoms Abstract Introduction Refractory ocular myasthenia gravis (MG) represents a significant therapeutic challenge, as conventional ...
Jing Lin, Yue Li, Mengcui Gui, Bitao Bu, Zhijun Li   +4 more
wiley   +1 more source

Recurrent Diplopia in a Pediatric Patient with Bickerstaff Brainstem Encephalitis

Case Reports in Neurological Medicine, 2016
Introduction. Acute complete external ophthalmoplegia is a rare finding in clinical practice that is associated with diseases affecting the neuromuscular junction, the oculomotor nerves, or the brainstem.
Scott A. McLeod, Wallace Wee, Francois D. Jacob, Isabelle Chapados, Francois V. Bolduc   +4 more
doaj   +1 more source

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease [PDF]

, 2016
Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity.
Costello, H, Fratter, C, Hanna, MG, Harding, BN, Holton, JL, Jacques, TS, Jaunmuktane, Z, Pitceathly, RD, Rahman, S, Rajakulendran, S, Sweeney, MG, Taanman, JW, Woodward, CE   +12 more
core   +1 more source

Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Thymidine kinase 2 deficiency (TK2d) is an ultra‐rare autosomal recessive mitochondrial myopathy with variable presentations, including late‐onset forms beginning after age 12. Unlike early‐onset disease, the natural history of late‐onset TK2d remains poorly defined.
Paloma Martín‐Jimenez, Laura Bermejo‐Guerrero, Luz Edith Ochoa, María Navarro‐Riquelme, Rocío Garrido‐Moraga, Aurelio Hernández‐Laín, Ana Hernández‐Voth, Adrián González Quintana, Ana Bermejo‐Moriñigo, Violeta González‐Méndez, Cristina Martín‐Arriscado Arroba, Dimitrii Smirnov, Nikita Konstantinovskiy, Joaquín Arenas, Miguel Ángel Martin, Alberto Blázquez, Cristina Domínguez‐González   +16 more
wiley   +1 more source

Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]

, 2009
Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander, Baloyannis, Banchs, Bossy-Wetzel, Brockmann, Cassidy-Stone, Chang, Chen, Cho, Clark, D. C. Chan, de Brito, Delettre, Dodson, Exner, Fransson, Frezza, Gispert, H. Chen, Hollenbeck, Kim, Kim, Li, Liot, Lustbader, Macaskill, Meeusen, Milone, Mortiboys, Okamoto, Orr, Park, Parone, Popp, Reis, Suen, Ten Dijke, Trushina, Wang, Waterham, Wood-Kaczmar, Zuchner, Z  chner   +42 more
core   +3 more sources

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, Volume 46, Issue 1, Page 46-55, January 2026.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

Vertebrobasilar dolichoectasia

Kerala Journal of Ophthalmology, 2016
Dolichoectasia is the increase in the length and diameter of vessels. It is a rare disease effectin g major vessels. For an ophthalmologist awareness of this entity is important to avoid unwanted investigation since this disease present as external ...
V Babitha, C Prasannakumari, K V Raju
doaj   +1 more source