Results 1 to 10 of about 32,341 (221)

Transcriptomic signature of painful human neurofibromatosis type 2 schwannomas [PDF]

Annals of Clinical and Translational Neurology, 2021
Schwannomas are benign neoplasms that can cause gain‐ and loss‐of‐function neurological phenotypes, including severe, intractable pain. To investigate the molecular mechanisms underlying schwannoma‐associated pain we compared the RNA sequencing profile ...
Phanidhar Kukutla, Sherif G. Ahmed, Daniel M. DuBreuil, Ahmed Abdelnabi, Murat Cetinbas, Giulia Fulci, Berent Aldikacti, Anat Stemmer‐Rachamimov, Scott R. Plotkin, Brian Wainger, Ruslan I. Sadreyev, Gary J. Brenner   +11 more
doaj   +2 more sources

Oculomotor nerve palsy in neurofibromatosis type 2 [PDF]

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   +2 more sources

Psychiatric symptoms in neurofibromatosis type 2 [PDF]

European Psychiatry, 2021
Introduction Neurofibromatosis type 2 (NF2) is a rare disorder associated with significant morbidity such as hearing loss that can lead to many psychiatric disorders. Objectives Describe the psychiatric symptoms associated to NF2. Methods We report
S. Khouadja, R. Melki, S. Younes, L. Zarrouk   +3 more
doaj   +2 more sources

Central nervous system manifestations of neurofibromatosis type 2: A case report [PDF]

Radiology Case Reports, 2023
Neurofibromatosis type 2 (phacomatosis) is a rare inherited autosomal dominant condition defined by the development of numerous central neuronal tumors.
Zineb Izi, MD, Kaoutar Imrani, MD, Najwa Amsiguine, MD, Tlaite Oubaddi, MD, Nabil Moatassim Billah, PhD, Ittimade Nassar, PhD   +5 more
doaj   +2 more sources

Multiple CNS Tumors in a Patient With Neurofibromatosis Type 2: Classical Presentation of a Rare Diseas

Acta Medica Iranica, 2020
Neurofibromatosis type 2 is a genetic autosomal dominant disorder, caused by spontaneous mutation in the gene located on chromosome 22 q11-13.1,which usually emerges in adolescence or early adulthood and is characterized by development of bilateral ...
Aamer Ubaid, Farishta Waheed, Awais Naeem   +2 more
doaj   +2 more sources

The genetic landscape and possible therapeutics of neurofibromatosis type 2 [PDF]

Cancer Cell International, 2023
Neurofibromatosis type 2 (NF2) is a genetic condition marked by the development of multiple benign tumors in the nervous system. The most common tumors associated with NF2 are bilateral vestibular schwannoma, meningioma, and ependymoma.
Mohammad Amin Ghalavand, Alimohamad Asghari, Mohammad Farhadi, Farzad Taghizadeh-Hesary, Masoud Garshasbi, Masoumeh Falah   +5 more
doaj   +2 more sources

Optic nerve and choroidal calcification in pediatric neurofibromatosis type 2 [PDF]

American Journal of Ophthalmology Case Reports
We describe a teenage boy with gradually progressive blurred vision in right eye. He could appreciate hand motions in the right eye and 20/20 vision in the left eye. Ophthalmic examination revealed bilateral optic atrophy with yellow-white peri-papillary
Shreya Gupta, Goura Chattannavar, Ashima Goyal Sharma, Ramesh Kekunnaya   +3 more
doaj   +2 more sources

Intralabyrinthine MRI FLAIR as a predictive marker for hearing loss in vestibular schwannomas in Neurofibromatosis Type 2. [PDF]

J Neurooncol
Walker RL, Laws MT, Kim HJ, Zalewski C, Asthagiri A, Ranganathan S, Hayes C, Heiss JD, Butman JA, Chittiboina P.   +9 more
europepmc   +3 more sources

Characteristics of MicroRNA Expression Depending on the Presence or Absence of Meningioma in Patients with Neurofibromatosis Type 2: A Secondary Analysis [PDF]

Neurologia Medico-Chirurgica
Meningioma is the second most frequent tumor in patients with neurofibromatosis type 2 (NF2). The presence of meningioma is believed to be a negative prognostic marker in these patients.
Takeshi IMURA, Takafumi MITSUHARA, Nobutaka HORIE   +2 more
doaj   +2 more sources

Neurofibromatosis type 2

Journal of Child Neurology, 2016
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder (incidence 1:33 000-40 000) characterized by formation of central nervous system tumors, due to mutation in the NF2 gene on chromosome 22q12. Vestibular schwannomas are the hallmark lesion, affecting 95% of individuals and typically occur bilaterally.
Simone Ardern-Holmes, Gemma Fisher, Kathryn North   +2 more
  +8 more sources