Results 51 to 60 of about 25,453,690 (257)

Looking at Optic Nerve Sheath Meningiomas Through Genetics—From Clinic to Bench and Back Again

Frontiers in Bioscience-Scholar
Optic nerve sheath meningiomas (ONSMs) occupy a unique intersection between neuro-oncology and genetics. Although most cases arise in middle-aged women as solitary, slow-growing tumors, pediatric onset, bilateral disease, or rapid progression frequently ...
Marco Zeppieri, Fabiana D’Esposito, Caterina Gagliano, Marco Battista, Piero Barboni, Simonetta Gaia Nicolosi, Matteo Capobianco   +6 more
doaj   +1 more source

Incidental Finding of Isolated Colonic Neurofibroma

Case Reports in Gastroenterology, 2013
Neurofibromatosis is a genetic disorder manifested by characteristic cutaneous lesions called neurofibromas. There are two distinct neurocutaneous syndromes named neurofibromatosis type 1 (also called von Recklinghausen disease or NF1) and ...
Haritha Chelimilla, Chaitanya K. Chandrala, Masooma Niazi, Kavitha Kumbum   +3 more
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Pulmonary hypertension associated with neurofibromatosis type 2

Pulmonary Circulation, 2021
Although precapillary pulmonary hypertension is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown.
Hirohisa Taniguchi, Tomoya Takashima, Ly Tu, Raphaël Thuillet, Asuka Furukawa, Yoshiko Furukawa, Akio Kawamura, Marc Humbert, Christophe Guignabert, Yuichi Tamura   +9 more
doaj   +1 more source

Oculomotor nerve palsy in neurofibromatosis type 2

Radiology Case Reports, 2022
Neurofibromatosis (NF) type 2 is a rare neurological, autosomal dominant and genetic disorder. It is caused by a mutation in the tumor suppressor gene, called NF2 gene. The disorder results in several benign tumors of the nervous system.
Aymen Shahab, MBBS, Hafsa Sardar, MBBS, Samaa Akhtar, MD, MSc, Anam Safdar, MBBS,FCPS, Muhammad Ismail Safi, MD, Izaz Ahmad, Faheemullah Khan, MBBS,MD   +6 more
doaj   +1 more source

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

The ocular presentation of neurofibromatosis 2 [PDF]

Eye, 1997
Neurofibromatosis 2 (NF2) is an inherited disorder characterised primarily by bilateral vestibular schwannomas and other central nervous system tumours. Individuals with NF2 also have early onset cortical and posterior subcapsular or capsular cataract and other ocular abnormalities, such as retinal hamartomas.
N K, Ragge, M E, Baser, V M, Riccardi, R E, Falk   +3 more
openaire   +2 more sources

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

JCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes, Niccola Lutri, Haerin Chung, Charles A. Nelson   +3 more
wiley   +1 more source

Multifocality in neurofibromatosis type 2 [PDF]

Neuro-Oncology, 2014
In their article in the current edition of the journal Asthagiri and colleagues1 elegantly demonstrate that the lobulated appearance of vestibular schwannomas in NF2 is due to the multifocal origin of separate clonal tumors that have distinct second somatic ‘hits’ in the NF2 gene. In 1971 Knudson2 published the “two hit” hypothesis of tumorigenesis for
Evans, D Gareth R; id_orcid 0000-0002-8482-5784, Stivaros, Stavros M   +1 more
openaire   +2 more sources